Incidental Mutation 'IGL01734:Cdh23'
| ID | 105615 |
|---|
| Institutional Source |
Australian Phenomics Network
(link to record)
|
|---|
| Gene Symbol |
Cdh23
|
|---|
| Ensembl Gene |
ENSMUSG00000012819 |
|---|
| Gene Name | cadherin 23 (otocadherin) |
|---|
| Synonyms | nmf252, bob, ahl, mdfw, 4930542A03Rik, sals, nmf112, nmf181, USH1D |
|---|
| Accession Numbers | |
|---|
| Is this an essential gene? |
Possibly essential (E-score: 0.634)
|
|---|
| Stock # | IGL01734
|
|---|
| Quality Score | |
|---|
| Status |
|
|---|
| Chromosome | 10 |
|---|
| Chromosomal Location | 60302748-60696490 bp(-) (GRCm38) |
|---|
| Type of Mutation | missense |
|---|
| DNA Base Change (assembly) |
T to C
at 60303513 bp
|
|---|
| Zygosity | Heterozygous |
|---|
| Amino Acid Change |
Aspartic acid to Glycine
at position 3307
(D3307G)
|
|---|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101104
(fasta)
|
|---|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004316]
[ENSMUST00000073242]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105463]
[ENSMUST00000105464]
[ENSMUST00000105465]
[ENSMUST00000177779]
[ENSMUST00000165878]
[ENSMUST00000179238]
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004316
|
|---|
| SMART Domains |
Protein: ENSMUSP00000004316
Gene: ENSMUSG00000004207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
272 |
1.2e-16 |
SMART |
|
SapB
|
314 |
389 |
2.07e-20 |
SMART |
|
low complexity region
|
412 |
430 |
N/A |
INTRINSIC |
|
SapB
|
439 |
514 |
3.84e-24 |
SMART |
|
SAPA
|
523 |
556 |
3.19e-22 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000073242
AA Change: D3308G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000072973
Gene: ENSMUSG00000012819
AA Change: D3308G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
55 |
130 |
5.15e-13 |
SMART |
|
CA
|
154 |
234 |
3.19e-18 |
SMART |
|
CA
|
258 |
346 |
2.03e-11 |
SMART |
|
CA
|
371 |
458 |
8.11e-11 |
SMART |
|
CA
|
482 |
559 |
1.04e-22 |
SMART |
|
CA
|
583 |
669 |
3.55e-25 |
SMART |
|
CA
|
693 |
776 |
2.04e-25 |
SMART |
|
CA
|
800 |
888 |
5.03e-16 |
SMART |
|
CA
|
912 |
993 |
1.05e-27 |
SMART |
|
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
|
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
|
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
|
CA
|
1335 |
1415 |
1.21e-18 |
SMART |
|
CA
|
1440 |
1524 |
2.38e-26 |
SMART |
|
CA
|
1549 |
1631 |
6.27e-26 |
SMART |
|
CA
|
1656 |
1741 |
6.99e-24 |
SMART |
|
CA
|
1765 |
1848 |
3.49e-24 |
SMART |
|
CA
|
1872 |
1956 |
2.78e-18 |
SMART |
|
CA
|
1984 |
2066 |
5.6e-14 |
SMART |
|
CA
|
2090 |
2171 |
2.59e-27 |
SMART |
|
CA
|
2195 |
2290 |
2.87e-11 |
SMART |
|
CA
|
2317 |
2399 |
1.01e-20 |
SMART |
|
CA
|
2423 |
2506 |
1.09e-25 |
SMART |
|
CA
|
2530 |
2608 |
7.91e-23 |
SMART |
|
CA
|
2634 |
2719 |
1.06e-23 |
SMART |
|
CA
|
2750 |
2843 |
2e-10 |
SMART |
|
Blast:CA
|
2867 |
2956 |
4e-51 |
BLAST |
|
transmembrane domain
|
3067 |
3089 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105461
AA Change: D3309G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101101
Gene: ENSMUSG00000012819
AA Change: D3309G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
55 |
130 |
5.15e-13 |
SMART |
|
CA
|
154 |
234 |
3.19e-18 |
SMART |
|
CA
|
258 |
346 |
2.03e-11 |
SMART |
|
CA
|
371 |
458 |
1.25e-11 |
SMART |
|
CA
|
482 |
559 |
1.04e-22 |
SMART |
|
CA
|
583 |
669 |
3.55e-25 |
SMART |
|
CA
|
693 |
776 |
2.04e-25 |
SMART |
|
CA
|
800 |
888 |
5.03e-16 |
SMART |
|
CA
|
912 |
993 |
1.05e-27 |
SMART |
|
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
|
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
|
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
|
CA
|
1335 |
1416 |
5.26e-19 |
SMART |
|
CA
|
1441 |
1525 |
2.38e-26 |
SMART |
|
CA
|
1550 |
1632 |
6.27e-26 |
SMART |
|
CA
|
1657 |
1742 |
6.99e-24 |
SMART |
|
CA
|
1766 |
1849 |
3.49e-24 |
SMART |
|
CA
|
1873 |
1957 |
2.78e-18 |
SMART |
|
CA
|
1985 |
2067 |
5.6e-14 |
SMART |
|
CA
|
2091 |
2172 |
2.59e-27 |
SMART |
|
CA
|
2196 |
2291 |
2.87e-11 |
SMART |
|
CA
|
2318 |
2400 |
1.01e-20 |
SMART |
|
CA
|
2424 |
2507 |
1.09e-25 |
SMART |
|
CA
|
2531 |
2609 |
7.91e-23 |
SMART |
|
CA
|
2635 |
2720 |
1.06e-23 |
SMART |
|
CA
|
2751 |
2844 |
2e-10 |
SMART |
|
Blast:CA
|
2868 |
2957 |
4e-51 |
BLAST |
|
transmembrane domain
|
3068 |
3090 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105462
AA Change: D3276G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101102
Gene: ENSMUSG00000012819
AA Change: D3276G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
55 |
130 |
5.15e-13 |
SMART |
|
CA
|
154 |
234 |
3.19e-18 |
SMART |
|
CA
|
261 |
349 |
2.03e-11 |
SMART |
|
CA
|
374 |
461 |
8.11e-11 |
SMART |
|
CA
|
485 |
562 |
1.04e-22 |
SMART |
|
CA
|
586 |
672 |
3.55e-25 |
SMART |
|
CA
|
696 |
779 |
2.04e-25 |
SMART |
|
CA
|
803 |
891 |
5.03e-16 |
SMART |
|
CA
|
915 |
996 |
1.05e-27 |
SMART |
|
CA
|
1020 |
1103 |
1.99e-19 |
SMART |
|
CA
|
1127 |
1209 |
6.94e-19 |
SMART |
|
CA
|
1234 |
1314 |
1.99e-19 |
SMART |
|
CA
|
1338 |
1418 |
1.21e-18 |
SMART |
|
CA
|
1443 |
1527 |
2.38e-26 |
SMART |
|
CA
|
1552 |
1634 |
6.27e-26 |
SMART |
|
CA
|
1659 |
1744 |
6.99e-24 |
SMART |
|
CA
|
1768 |
1851 |
3.49e-24 |
SMART |
|
CA
|
1875 |
1959 |
2.78e-18 |
SMART |
|
CA
|
1987 |
2069 |
5.6e-14 |
SMART |
|
CA
|
2093 |
2174 |
2.59e-27 |
SMART |
|
CA
|
2198 |
2293 |
2.87e-11 |
SMART |
|
CA
|
2320 |
2402 |
1.01e-20 |
SMART |
|
CA
|
2426 |
2509 |
1.09e-25 |
SMART |
|
CA
|
2533 |
2611 |
7.91e-23 |
SMART |
|
CA
|
2637 |
2722 |
1.06e-23 |
SMART |
|
CA
|
2753 |
2846 |
2e-10 |
SMART |
|
Blast:CA
|
2870 |
2959 |
4e-51 |
BLAST |
|
transmembrane domain
|
3070 |
3092 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105463
AA Change: D3274G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101103
Gene: ENSMUSG00000012819
AA Change: D3274G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
55 |
130 |
5.15e-13 |
SMART |
|
CA
|
154 |
234 |
3.19e-18 |
SMART |
|
CA
|
258 |
346 |
2.03e-11 |
SMART |
|
CA
|
371 |
458 |
1.25e-11 |
SMART |
|
CA
|
482 |
559 |
1.04e-22 |
SMART |
|
CA
|
583 |
669 |
3.55e-25 |
SMART |
|
CA
|
693 |
776 |
2.04e-25 |
SMART |
|
CA
|
800 |
888 |
5.03e-16 |
SMART |
|
CA
|
912 |
993 |
1.05e-27 |
SMART |
|
CA
|
1017 |
1100 |
1.99e-19 |
SMART |
|
CA
|
1124 |
1206 |
6.94e-19 |
SMART |
|
CA
|
1231 |
1311 |
1.99e-19 |
SMART |
|
CA
|
1335 |
1416 |
5.26e-19 |
SMART |
|
CA
|
1441 |
1525 |
2.38e-26 |
SMART |
|
CA
|
1550 |
1632 |
6.27e-26 |
SMART |
|
CA
|
1657 |
1742 |
6.99e-24 |
SMART |
|
CA
|
1766 |
1849 |
3.49e-24 |
SMART |
|
CA
|
1873 |
1957 |
2.78e-18 |
SMART |
|
CA
|
1985 |
2067 |
5.6e-14 |
SMART |
|
CA
|
2091 |
2172 |
2.59e-27 |
SMART |
|
CA
|
2196 |
2291 |
2.87e-11 |
SMART |
|
CA
|
2318 |
2400 |
1.01e-20 |
SMART |
|
CA
|
2424 |
2507 |
1.09e-25 |
SMART |
|
CA
|
2531 |
2609 |
7.91e-23 |
SMART |
|
CA
|
2635 |
2720 |
1.06e-23 |
SMART |
|
CA
|
2751 |
2844 |
2e-10 |
SMART |
|
Blast:CA
|
2868 |
2957 |
4e-51 |
BLAST |
|
transmembrane domain
|
3068 |
3090 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105464
AA Change: D3307G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101104
Gene: ENSMUSG00000012819
AA Change: D3307G
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
CA
|
55 |
130 |
5.15e-13 |
SMART |
|
CA
|
154 |
234 |
3.19e-18 |
SMART |
|
CA
|
258 |
346 |
2.03e-11 |
SMART |
|
CA
|
371 |
456 |
3.58e-12 |
SMART |
|
CA
|
480 |
557 |
1.04e-22 |
SMART |
|
CA
|
581 |
667 |
3.55e-25 |
SMART |
|
CA
|
691 |
774 |
2.04e-25 |
SMART |
|
CA
|
798 |
886 |
5.03e-16 |
SMART |
|
CA
|
910 |
991 |
1.05e-27 |
SMART |
|
CA
|
1015 |
1098 |
1.99e-19 |
SMART |
|
CA
|
1122 |
1204 |
6.94e-19 |
SMART |
|
CA
|
1229 |
1309 |
1.99e-19 |
SMART |
|
CA
|
1333 |
1414 |
5.26e-19 |
SMART |
|
CA
|
1439 |
1523 |
2.38e-26 |
SMART |
|
CA
|
1548 |
1630 |
6.27e-26 |
SMART |
|
CA
|
1655 |
1740 |
6.99e-24 |
SMART |
|
CA
|
1764 |
1847 |
3.49e-24 |
SMART |
|
CA
|
1871 |
1955 |
2.78e-18 |
SMART |
|
CA
|
1983 |
2065 |
5.6e-14 |
SMART |
|
CA
|
2089 |
2170 |
2.59e-27 |
SMART |
|
CA
|
2194 |
2289 |
2.87e-11 |
SMART |
|
CA
|
2316 |
2398 |
1.01e-20 |
SMART |
|
CA
|
2422 |
2505 |
1.09e-25 |
SMART |
|
CA
|
2529 |
2607 |
7.91e-23 |
SMART |
|
CA
|
2633 |
2718 |
1.06e-23 |
SMART |
|
CA
|
2749 |
2842 |
2e-10 |
SMART |
|
Blast:CA
|
2866 |
2955 |
3e-51 |
BLAST |
|
transmembrane domain
|
3066 |
3088 |
N/A |
INTRINSIC |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105465
|
|---|
| SMART Domains |
Protein: ENSMUSP00000101105
Gene: ENSMUSG00000004207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
270 |
2.76e-16 |
SMART |
|
SapB
|
312 |
387 |
2.07e-20 |
SMART |
|
low complexity region
|
410 |
428 |
N/A |
INTRINSIC |
|
SapB
|
437 |
512 |
3.84e-24 |
SMART |
|
SAPA
|
521 |
554 |
3.19e-22 |
SMART |
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128249
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135638
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151194
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153525
|
|---|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156501
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177779
|
|---|
| SMART Domains |
Protein: ENSMUSP00000137286
Gene: ENSMUSG00000004207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
273 |
2.37e-15 |
SMART |
|
SapB
|
315 |
390 |
2.07e-20 |
SMART |
|
low complexity region
|
413 |
431 |
N/A |
INTRINSIC |
|
SapB
|
440 |
515 |
3.84e-24 |
SMART |
|
SAPA
|
524 |
557 |
3.19e-22 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165878
|
|---|
| SMART Domains |
Protein: ENSMUSP00000126407
Gene: ENSMUSG00000004207
| Domain | Start | End | E-Value | Type |
|---|
|
SAPA
|
18 |
51 |
1.4e-18 |
SMART |
|
SapB
|
58 |
135 |
1.87e-27 |
SMART |
|
SapB
|
192 |
267 |
2.76e-16 |
SMART |
|
SapB
|
309 |
384 |
2.07e-20 |
SMART |
|
low complexity region
|
407 |
425 |
N/A |
INTRINSIC |
|
SapB
|
434 |
509 |
3.84e-24 |
SMART |
|
SAPA
|
518 |
551 |
3.19e-22 |
SMART |
|
|---|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000179238
|
|---|
| SMART Domains |
Protein: ENSMUSP00000137476
Gene: ENSMUSG00000004207
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
SAPA
|
21 |
54 |
1.4e-18 |
SMART |
|
SapB
|
61 |
138 |
1.87e-27 |
SMART |
|
SapB
|
195 |
273 |
8.5e-17 |
SMART |
|
SapB
|
315 |
390 |
2.07e-20 |
SMART |
|
low complexity region
|
413 |
431 |
N/A |
INTRINSIC |
|
SapB
|
440 |
515 |
3.84e-24 |
SMART |
|
SAPA
|
524 |
557 |
3.19e-22 |
SMART |
|
|---|
| Coding Region Coverage |
|
|---|
| Validation Efficiency |
|
|---|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the cadherin superfamily, whose genes encode calcium dependent cell-cell adhesion glycoproteins. The encoded protein is thought to be involved in stereocilia organization and hair bundle formation. The gene is located in a region containing the human deafness loci DFNB12 and USH1D. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of this cadherin-like gene. Upregulation of this gene may also be associated with breast cancer. Alternative splice variants encoding different isoforms have been described. [provided by RefSeq, May 2013]
PHENOTYPE: Mutant mice exhibit circling behavior, tilting of the head and are deaf. Mice homozygous for a targeted knock-out exhibit abnormal outer hair cells morphology. [provided by MGI curators]
|
|---|
| Allele List at MGI | |
|---|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932442E05Rik |
T |
A |
10: 118,861,466 |
W210R |
possibly damaging |
Het |
| Aknad1 |
T |
C |
3: 108,751,901 |
M77T |
probably benign |
Het |
| Aox2 |
A |
T |
1: 58,354,310 |
I1210F |
possibly damaging |
Het |
| Brd8 |
A |
T |
18: 34,614,805 |
|
probably benign |
Het |
| Chsy1 |
T |
C |
7: 66,171,310 |
I431T |
probably damaging |
Het |
| Cobl |
A |
G |
11: 12,254,980 |
|
probably benign |
Het |
| Col28a1 |
T |
C |
6: 8,158,134 |
D308G |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 48,185,304 |
Y568H |
probably damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,622,583 |
I264T |
probably damaging |
Het |
| Dusp22 |
G |
T |
13: 30,696,252 |
C52F |
probably damaging |
Het |
| Fbxw22 |
A |
C |
9: 109,383,925 |
M318R |
probably damaging |
Het |
| Ffar4 |
C |
T |
19: 38,113,847 |
T310M |
probably damaging |
Het |
| Fn1 |
A |
G |
1: 71,619,485 |
V1138A |
probably damaging |
Het |
| Glt6d1 |
T |
A |
2: 25,794,493 |
Y167F |
probably benign |
Het |
| Hydin |
T |
A |
8: 110,490,789 |
Y1436* |
probably null |
Het |
| Il12a |
G |
A |
3: 68,691,555 |
C2Y |
possibly damaging |
Het |
| Inpp5a |
T |
C |
7: 139,454,090 |
Y38H |
possibly damaging |
Het |
| Jmy |
A |
C |
13: 93,459,651 |
L490R |
probably damaging |
Het |
| Kif26a |
T |
A |
12: 112,176,828 |
L1172H |
probably benign |
Het |
| Kmo |
A |
T |
1: 175,655,102 |
M331L |
probably benign |
Het |
| Lonp1 |
G |
A |
17: 56,616,026 |
T627M |
probably damaging |
Het |
| Lrrc41 |
T |
C |
4: 116,093,134 |
|
probably null |
Het |
| Mast4 |
A |
T |
13: 102,737,615 |
S1556R |
probably damaging |
Het |
| Mmel1 |
A |
G |
4: 154,891,951 |
N490S |
probably benign |
Het |
| Mpped2 |
A |
G |
2: 106,783,813 |
D164G |
probably damaging |
Het |
| Nap1l1 |
A |
G |
10: 111,492,899 |
T230A |
probably benign |
Het |
| Nrap |
C |
A |
19: 56,350,309 |
A913S |
probably damaging |
Het |
| Nudt16 |
G |
T |
9: 105,131,508 |
Q65K |
probably benign |
Het |
| Olfr1039 |
T |
A |
2: 86,131,668 |
|
probably benign |
Het |
| Olfr199 |
T |
G |
16: 59,216,429 |
L61F |
probably benign |
Het |
| Olfr201 |
T |
A |
16: 59,268,850 |
K272N |
probably benign |
Het |
| Olfr382 |
C |
A |
11: 73,516,636 |
A188S |
probably benign |
Het |
| Olfr813 |
T |
A |
10: 129,856,802 |
C95S |
probably benign |
Het |
| Parp14 |
A |
G |
16: 35,858,600 |
F333L |
probably benign |
Het |
| Pi4ka |
G |
T |
16: 17,297,260 |
Q1422K |
probably benign |
Het |
| Polr3c |
T |
C |
3: 96,713,520 |
E494G |
probably damaging |
Het |
| Prss42 |
C |
A |
9: 110,798,343 |
P49Q |
probably benign |
Het |
| Ptpra |
C |
T |
2: 130,544,077 |
T568I |
probably damaging |
Het |
| Ring1 |
T |
C |
17: 34,023,320 |
D71G |
probably damaging |
Het |
| Siae |
T |
A |
9: 37,631,486 |
S193T |
probably damaging |
Het |
| Slf2 |
T |
C |
19: 44,973,267 |
|
probably null |
Het |
| Spinkl |
T |
A |
18: 44,174,572 |
K7N |
possibly damaging |
Het |
| Tbk1 |
G |
A |
10: 121,571,983 |
R82* |
probably null |
Het |
| Tcf12 |
T |
C |
9: 71,922,648 |
|
probably null |
Het |
| Tcl1b5 |
G |
A |
12: 105,178,955 |
M59I |
probably benign |
Het |
| Thumpd3 |
C |
A |
6: 113,066,845 |
T407K |
probably damaging |
Het |
| Timm29 |
T |
C |
9: 21,593,735 |
V233A |
probably damaging |
Het |
| Tns3 |
A |
G |
11: 8,519,192 |
|
probably benign |
Het |
| Ubash3b |
T |
C |
9: 41,026,247 |
|
probably benign |
Het |
| Ugdh |
G |
T |
5: 65,422,688 |
T253K |
probably benign |
Het |
| Zfp143 |
T |
A |
7: 110,072,209 |
|
probably benign |
Het |
| Zfp738 |
A |
G |
13: 67,683,444 |
|
probably benign |
Het |
|
|---|
| Other mutations in Cdh23 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00229:Cdh23
|
APN |
10 |
60523548 |
missense |
probably benign |
0.03 |
|
IGL00429:Cdh23
|
APN |
10 |
60421141 |
missense |
probably damaging |
0.97 |
|
IGL01014:Cdh23
|
APN |
10 |
60307522 |
missense |
probably damaging |
0.99 |
|
IGL01284:Cdh23
|
APN |
10 |
60466097 |
missense |
possibly damaging |
0.95 |
|
IGL01305:Cdh23
|
APN |
10 |
60312624 |
missense |
probably damaging |
1.00 |
|
IGL01367:Cdh23
|
APN |
10 |
60310787 |
missense |
probably damaging |
1.00 |
|
IGL01396:Cdh23
|
APN |
10 |
60385069 |
missense |
possibly damaging |
0.93 |
|
IGL01412:Cdh23
|
APN |
10 |
60314694 |
missense |
probably damaging |
1.00 |
|
IGL01461:Cdh23
|
APN |
10 |
60409147 |
missense |
possibly damaging |
0.53 |
|
IGL01469:Cdh23
|
APN |
10 |
60597725 |
missense |
probably benign |
0.03 |
|
IGL01695:Cdh23
|
APN |
10 |
60331833 |
missense |
probably benign |
0.20 |
|
IGL01767:Cdh23
|
APN |
10 |
60315724 |
missense |
probably damaging |
1.00 |
|
IGL01796:Cdh23
|
APN |
10 |
60311137 |
missense |
probably benign |
0.31 |
|
IGL01843:Cdh23
|
APN |
10 |
60419819 |
splice site |
probably null |
|
|
IGL02025:Cdh23
|
APN |
10 |
60385143 |
missense |
probably damaging |
1.00 |
|
IGL02071:Cdh23
|
APN |
10 |
60523560 |
missense |
possibly damaging |
0.93 |
|
IGL02160:Cdh23
|
APN |
10 |
60597765 |
splice site |
probably benign |
|
|
IGL02175:Cdh23
|
APN |
10 |
60331308 |
missense |
possibly damaging |
0.92 |
|
IGL02220:Cdh23
|
APN |
10 |
60305124 |
missense |
probably damaging |
1.00 |
|
IGL02302:Cdh23
|
APN |
10 |
60323523 |
missense |
possibly damaging |
0.87 |
|
IGL02331:Cdh23
|
APN |
10 |
60465543 |
missense |
probably damaging |
0.99 |
|
IGL02452:Cdh23
|
APN |
10 |
60317942 |
missense |
probably damaging |
0.99 |
|
IGL02499:Cdh23
|
APN |
10 |
60385179 |
missense |
probably damaging |
1.00 |
|
IGL02548:Cdh23
|
APN |
10 |
60650122 |
missense |
probably benign |
0.37 |
|
IGL02593:Cdh23
|
APN |
10 |
60465995 |
splice site |
probably benign |
|
|
IGL02626:Cdh23
|
APN |
10 |
60391801 |
missense |
probably damaging |
1.00 |
|
IGL02951:Cdh23
|
APN |
10 |
60311364 |
missense |
probably damaging |
1.00 |
|
IGL03145:Cdh23
|
APN |
10 |
60376814 |
missense |
probably damaging |
0.99 |
|
dee_dee
|
UTSW |
10 |
60308056 |
nonsense |
probably null |
|
|
hersey
|
UTSW |
10 |
60308036 |
missense |
probably damaging |
1.00 |
|
ANU22:Cdh23
|
UTSW |
10 |
60312624 |
missense |
probably damaging |
1.00 |
|
IGL02980:Cdh23
|
UTSW |
10 |
60314620 |
missense |
probably damaging |
1.00 |
|
PIT4362001:Cdh23
|
UTSW |
10 |
60465458 |
missense |
probably benign |
0.15 |
|
R0013:Cdh23
|
UTSW |
10 |
60413173 |
missense |
possibly damaging |
0.90 |
|
R0045:Cdh23
|
UTSW |
10 |
60530978 |
missense |
probably damaging |
1.00 |
|
R0045:Cdh23
|
UTSW |
10 |
60530978 |
missense |
probably damaging |
1.00 |
|
R0082:Cdh23
|
UTSW |
10 |
60312587 |
missense |
probably damaging |
1.00 |
|
R0124:Cdh23
|
UTSW |
10 |
60308056 |
nonsense |
probably null |
|
|
R0172:Cdh23
|
UTSW |
10 |
60319632 |
missense |
probably damaging |
1.00 |
|
R0195:Cdh23
|
UTSW |
10 |
60317059 |
missense |
probably damaging |
0.99 |
|
R0365:Cdh23
|
UTSW |
10 |
60379315 |
missense |
probably damaging |
0.99 |
|
R0437:Cdh23
|
UTSW |
10 |
60410797 |
missense |
probably damaging |
1.00 |
|
R0486:Cdh23
|
UTSW |
10 |
60386946 |
missense |
probably damaging |
1.00 |
|
R0494:Cdh23
|
UTSW |
10 |
60316596 |
splice site |
probably benign |
|
|
R0545:Cdh23
|
UTSW |
10 |
60331291 |
missense |
probably benign |
0.06 |
|
R0619:Cdh23
|
UTSW |
10 |
60433777 |
missense |
probably damaging |
1.00 |
|
R0647:Cdh23
|
UTSW |
10 |
60307902 |
missense |
probably damaging |
0.99 |
|
R0647:Cdh23
|
UTSW |
10 |
60323374 |
nonsense |
probably null |
|
|
R0730:Cdh23
|
UTSW |
10 |
60323714 |
missense |
probably damaging |
0.99 |
|
R0880:Cdh23
|
UTSW |
10 |
60406421 |
missense |
possibly damaging |
0.51 |
|
R0942:Cdh23
|
UTSW |
10 |
60410860 |
missense |
possibly damaging |
0.67 |
|
R0989:Cdh23
|
UTSW |
10 |
60534510 |
missense |
probably damaging |
0.99 |
|
R1017:Cdh23
|
UTSW |
10 |
60331793 |
missense |
probably damaging |
1.00 |
|
R1173:Cdh23
|
UTSW |
10 |
60312392 |
splice site |
probably benign |
|
|
R1449:Cdh23
|
UTSW |
10 |
60376951 |
missense |
probably damaging |
1.00 |
|
R1456:Cdh23
|
UTSW |
10 |
60487120 |
missense |
possibly damaging |
0.84 |
|
R1519:Cdh23
|
UTSW |
10 |
60379343 |
missense |
possibly damaging |
0.92 |
|
R1532:Cdh23
|
UTSW |
10 |
60314331 |
missense |
probably damaging |
0.99 |
|
R1559:Cdh23
|
UTSW |
10 |
60419699 |
splice site |
probably benign |
|
|
R1704:Cdh23
|
UTSW |
10 |
60314611 |
missense |
probably damaging |
1.00 |
|
R1711:Cdh23
|
UTSW |
10 |
60523536 |
missense |
probably benign |
0.07 |
|
R1760:Cdh23
|
UTSW |
10 |
60326076 |
missense |
probably damaging |
1.00 |
|
R1782:Cdh23
|
UTSW |
10 |
60488542 |
missense |
probably damaging |
1.00 |
|
R1791:Cdh23
|
UTSW |
10 |
60391726 |
missense |
possibly damaging |
0.89 |
|
R1803:Cdh23
|
UTSW |
10 |
60331281 |
missense |
probably damaging |
1.00 |
|
R1857:Cdh23
|
UTSW |
10 |
60323297 |
missense |
probably damaging |
1.00 |
|
R1874:Cdh23
|
UTSW |
10 |
60436818 |
missense |
possibly damaging |
0.52 |
|
R1914:Cdh23
|
UTSW |
10 |
60323570 |
missense |
probably damaging |
0.99 |
|
R1958:Cdh23
|
UTSW |
10 |
60410873 |
missense |
probably benign |
0.02 |
|
R1964:Cdh23
|
UTSW |
10 |
60385222 |
missense |
probably benign |
0.31 |
|
R1966:Cdh23
|
UTSW |
10 |
60323582 |
missense |
probably damaging |
1.00 |
|
R1981:Cdh23
|
UTSW |
10 |
60378751 |
missense |
probably damaging |
1.00 |
|
R2010:Cdh23
|
UTSW |
10 |
60314227 |
missense |
probably damaging |
0.99 |
|
R2036:Cdh23
|
UTSW |
10 |
60466043 |
missense |
possibly damaging |
0.52 |
|
R2038:Cdh23
|
UTSW |
10 |
60312587 |
missense |
probably damaging |
1.00 |
|
R2044:Cdh23
|
UTSW |
10 |
60596730 |
missense |
possibly damaging |
0.72 |
|
R2111:Cdh23
|
UTSW |
10 |
60305583 |
missense |
probably damaging |
0.99 |
|
R2112:Cdh23
|
UTSW |
10 |
60305583 |
missense |
probably damaging |
0.99 |
|
R2211:Cdh23
|
UTSW |
10 |
60466004 |
missense |
possibly damaging |
0.92 |
|
R2261:Cdh23
|
UTSW |
10 |
60317128 |
missense |
probably damaging |
1.00 |
|
R2262:Cdh23
|
UTSW |
10 |
60317128 |
missense |
probably damaging |
1.00 |
|
R2306:Cdh23
|
UTSW |
10 |
60323445 |
missense |
probably damaging |
1.00 |
|
R2344:Cdh23
|
UTSW |
10 |
60316724 |
missense |
probably damaging |
1.00 |
|
R2857:Cdh23
|
UTSW |
10 |
60382653 |
critical splice donor site |
probably null |
|
|
R2858:Cdh23
|
UTSW |
10 |
60382653 |
critical splice donor site |
probably null |
|
|
R2859:Cdh23
|
UTSW |
10 |
60382653 |
critical splice donor site |
probably null |
|
|
R2876:Cdh23
|
UTSW |
10 |
60307496 |
missense |
probably damaging |
1.00 |
|
R3034:Cdh23
|
UTSW |
10 |
60409010 |
splice site |
probably benign |
|
|
R3424:Cdh23
|
UTSW |
10 |
60376881 |
missense |
possibly damaging |
0.76 |
|
R3699:Cdh23
|
UTSW |
10 |
60327370 |
critical splice donor site |
probably null |
|
|
R3700:Cdh23
|
UTSW |
10 |
60327370 |
critical splice donor site |
probably null |
|
|
R3950:Cdh23
|
UTSW |
10 |
60657326 |
missense |
probably benign |
0.04 |
|
R3951:Cdh23
|
UTSW |
10 |
60657326 |
missense |
probably benign |
0.04 |
|
R3952:Cdh23
|
UTSW |
10 |
60657326 |
missense |
probably benign |
0.04 |
|
R4108:Cdh23
|
UTSW |
10 |
60410822 |
missense |
possibly damaging |
0.51 |
|
R4114:Cdh23
|
UTSW |
10 |
60421040 |
splice site |
probably null |
|
|
R4273:Cdh23
|
UTSW |
10 |
60311161 |
missense |
possibly damaging |
0.69 |
|
R4284:Cdh23
|
UTSW |
10 |
60303493 |
missense |
possibly damaging |
0.91 |
|
R4334:Cdh23
|
UTSW |
10 |
60385059 |
missense |
probably damaging |
0.99 |
|
R4474:Cdh23
|
UTSW |
10 |
60311086 |
missense |
probably damaging |
1.00 |
|
R4532:Cdh23
|
UTSW |
10 |
60534423 |
missense |
probably benign |
0.32 |
|
R4597:Cdh23
|
UTSW |
10 |
60409044 |
missense |
probably damaging |
1.00 |
|
R4604:Cdh23
|
UTSW |
10 |
60337666 |
missense |
possibly damaging |
0.93 |
|
R4793:Cdh23
|
UTSW |
10 |
60331350 |
missense |
probably damaging |
1.00 |
|
R4816:Cdh23
|
UTSW |
10 |
60409077 |
missense |
possibly damaging |
0.93 |
|
R4833:Cdh23
|
UTSW |
10 |
60385038 |
missense |
probably damaging |
1.00 |
|
R4840:Cdh23
|
UTSW |
10 |
60419777 |
missense |
possibly damaging |
0.53 |
|
R4857:Cdh23
|
UTSW |
10 |
60391784 |
missense |
probably damaging |
1.00 |
|
R4869:Cdh23
|
UTSW |
10 |
60376934 |
missense |
probably damaging |
1.00 |
|
R4894:Cdh23
|
UTSW |
10 |
60337851 |
missense |
probably benign |
0.04 |
|
R4940:Cdh23
|
UTSW |
10 |
60307935 |
missense |
probably damaging |
0.98 |
|
R5020:Cdh23
|
UTSW |
10 |
60308032 |
missense |
probably damaging |
0.99 |
|
R5026:Cdh23
|
UTSW |
10 |
60304848 |
missense |
possibly damaging |
0.88 |
|
R5081:Cdh23
|
UTSW |
10 |
60436807 |
missense |
possibly damaging |
0.89 |
|
R5138:Cdh23
|
UTSW |
10 |
60312282 |
missense |
probably damaging |
1.00 |
|
R5236:Cdh23
|
UTSW |
10 |
60312572 |
missense |
probably damaging |
1.00 |
|
R5361:Cdh23
|
UTSW |
10 |
60657265 |
critical splice donor site |
probably null |
|
|
R5384:Cdh23
|
UTSW |
10 |
60337762 |
missense |
probably damaging |
0.99 |
|
R5500:Cdh23
|
UTSW |
10 |
60314311 |
missense |
probably damaging |
1.00 |
|
R5512:Cdh23
|
UTSW |
10 |
60534386 |
splice site |
probably null |
|
|
R5673:Cdh23
|
UTSW |
10 |
60307857 |
missense |
probably damaging |
1.00 |
|
R5720:Cdh23
|
UTSW |
10 |
60393023 |
missense |
possibly damaging |
0.71 |
|
R5726:Cdh23
|
UTSW |
10 |
60407480 |
missense |
probably damaging |
0.98 |
|
R5732:Cdh23
|
UTSW |
10 |
60331317 |
missense |
possibly damaging |
0.80 |
|
R5739:Cdh23
|
UTSW |
10 |
60305609 |
missense |
probably damaging |
0.99 |
|
R5760:Cdh23
|
UTSW |
10 |
60406392 |
missense |
probably damaging |
0.99 |
|
R5793:Cdh23
|
UTSW |
10 |
60306128 |
missense |
probably damaging |
1.00 |
|
R5880:Cdh23
|
UTSW |
10 |
60384934 |
missense |
probably damaging |
1.00 |
|
R5905:Cdh23
|
UTSW |
10 |
60534535 |
missense |
probably damaging |
0.98 |
|
R5907:Cdh23
|
UTSW |
10 |
60428379 |
missense |
probably damaging |
1.00 |
|
R5910:Cdh23
|
UTSW |
10 |
60377821 |
missense |
possibly damaging |
0.81 |
|
R5932:Cdh23
|
UTSW |
10 |
60392984 |
missense |
probably damaging |
1.00 |
|
R5996:Cdh23
|
UTSW |
10 |
60413577 |
missense |
possibly damaging |
0.85 |
|
R6015:Cdh23
|
UTSW |
10 |
60307982 |
missense |
probably damaging |
0.97 |
|
R6020:Cdh23
|
UTSW |
10 |
60331326 |
missense |
probably damaging |
1.00 |
|
R6023:Cdh23
|
UTSW |
10 |
60465542 |
missense |
probably damaging |
1.00 |
|
R6028:Cdh23
|
UTSW |
10 |
60534535 |
missense |
probably damaging |
0.98 |
|
R6066:Cdh23
|
UTSW |
10 |
60433758 |
missense |
probably damaging |
1.00 |
|
R6137:Cdh23
|
UTSW |
10 |
60434512 |
missense |
probably damaging |
0.96 |
|
R6211:Cdh23
|
UTSW |
10 |
60410821 |
missense |
possibly damaging |
0.90 |
|
R6298:Cdh23
|
UTSW |
10 |
60426672 |
nonsense |
probably null |
|
|
R6302:Cdh23
|
UTSW |
10 |
60305093 |
missense |
possibly damaging |
0.74 |
|
R6338:Cdh23
|
UTSW |
10 |
60413151 |
missense |
probably damaging |
1.00 |
|
R6356:Cdh23
|
UTSW |
10 |
60438847 |
missense |
probably damaging |
1.00 |
|
R6441:Cdh23
|
UTSW |
10 |
60308036 |
missense |
probably damaging |
1.00 |
|
R6714:Cdh23
|
UTSW |
10 |
60331830 |
missense |
possibly damaging |
0.62 |
|
R6760:Cdh23
|
UTSW |
10 |
60306168 |
missense |
probably damaging |
1.00 |
|
R6807:Cdh23
|
UTSW |
10 |
60378871 |
missense |
possibly damaging |
0.95 |
|
R6855:Cdh23
|
UTSW |
10 |
60306122 |
missense |
possibly damaging |
0.66 |
|
R6937:Cdh23
|
UTSW |
10 |
60487114 |
missense |
probably damaging |
1.00 |
|
R6942:Cdh23
|
UTSW |
10 |
60438856 |
missense |
possibly damaging |
0.93 |
|
R6961:Cdh23
|
UTSW |
10 |
60650114 |
missense |
probably benign |
0.00 |
|
R7009:Cdh23
|
UTSW |
10 |
60337306 |
missense |
probably damaging |
0.99 |
|
R7010:Cdh23
|
UTSW |
10 |
60530991 |
missense |
probably benign |
0.03 |
|
R7032:Cdh23
|
UTSW |
10 |
60331788 |
missense |
probably damaging |
1.00 |
|
R7046:Cdh23
|
UTSW |
10 |
60378751 |
missense |
probably damaging |
1.00 |
|
R7111:Cdh23
|
UTSW |
10 |
60387044 |
missense |
probably damaging |
1.00 |
|
R7196:Cdh23
|
UTSW |
10 |
60307980 |
missense |
probably damaging |
0.99 |
|
R7198:Cdh23
|
UTSW |
10 |
60312599 |
missense |
possibly damaging |
0.91 |
|
R7223:Cdh23
|
UTSW |
10 |
60331817 |
missense |
probably damaging |
1.00 |
|
R7290:Cdh23
|
UTSW |
10 |
60376841 |
missense |
probably benign |
|
|
R7335:Cdh23
|
UTSW |
10 |
60305116 |
missense |
probably damaging |
1.00 |
|
R7340:Cdh23
|
UTSW |
10 |
60530996 |
missense |
probably benign |
0.19 |
|
R7350:Cdh23
|
UTSW |
10 |
60410910 |
missense |
probably damaging |
1.00 |
|
R7366:Cdh23
|
UTSW |
10 |
60315692 |
nonsense |
probably null |
|
|
R7374:Cdh23
|
UTSW |
10 |
60317900 |
missense |
probably damaging |
0.99 |
|
R7455:Cdh23
|
UTSW |
10 |
60306224 |
missense |
possibly damaging |
0.82 |
|
R7537:Cdh23
|
UTSW |
10 |
60384945 |
missense |
probably benign |
0.17 |
|
R7573:Cdh23
|
UTSW |
10 |
60323550 |
missense |
probably benign |
0.17 |
|
R7578:Cdh23
|
UTSW |
10 |
60407407 |
missense |
probably benign |
0.14 |
|
R7646:Cdh23
|
UTSW |
10 |
60305152 |
missense |
possibly damaging |
0.95 |
|
R7703:Cdh23
|
UTSW |
10 |
60337264 |
missense |
probably damaging |
1.00 |
|
R7763:Cdh23
|
UTSW |
10 |
60312577 |
missense |
probably damaging |
1.00 |
|
R7797:Cdh23
|
UTSW |
10 |
60385194 |
missense |
probably benign |
0.07 |
|
R7867:Cdh23
|
UTSW |
10 |
60314611 |
missense |
probably damaging |
1.00 |
|
R7878:Cdh23
|
UTSW |
10 |
60314200 |
missense |
possibly damaging |
0.69 |
|
R7915:Cdh23
|
UTSW |
10 |
60307889 |
missense |
probably damaging |
0.97 |
|
R7922:Cdh23
|
UTSW |
10 |
60382706 |
missense |
probably benign |
0.31 |
|
R7963:Cdh23
|
UTSW |
10 |
60336188 |
missense |
probably damaging |
1.00 |
|
R7997:Cdh23
|
UTSW |
10 |
60596739 |
missense |
possibly damaging |
0.81 |
|
R8167:Cdh23
|
UTSW |
10 |
60314383 |
missense |
probably benign |
0.12 |
|
R8167:Cdh23
|
UTSW |
10 |
60337693 |
missense |
probably damaging |
0.96 |
|
R8258:Cdh23
|
UTSW |
10 |
60315656 |
missense |
probably damaging |
0.99 |
|
R8259:Cdh23
|
UTSW |
10 |
60315656 |
missense |
probably damaging |
0.99 |
|
R8317:Cdh23
|
UTSW |
10 |
60311258 |
critical splice donor site |
probably null |
|
|
R8317:Cdh23
|
UTSW |
10 |
60436789 |
missense |
probably damaging |
1.00 |
|
R8326:Cdh23
|
UTSW |
10 |
60438812 |
missense |
possibly damaging |
0.55 |
|
R8333:Cdh23
|
UTSW |
10 |
60314611 |
missense |
probably damaging |
1.00 |
|
R8348:Cdh23
|
UTSW |
10 |
60331728 |
missense |
probably benign |
0.43 |
|
R8366:Cdh23
|
UTSW |
10 |
60325020 |
missense |
probably benign |
|
|
R8504:Cdh23
|
UTSW |
10 |
60438839 |
missense |
probably benign |
0.00 |
|
X0052:Cdh23
|
UTSW |
10 |
60385134 |
missense |
probably damaging |
1.00 |
|
Z1088:Cdh23
|
UTSW |
10 |
60413644 |
missense |
probably benign |
0.35 |
|
Z1176:Cdh23
|
UTSW |
10 |
60310770 |
missense |
probably damaging |
1.00 |
|
Z1176:Cdh23
|
UTSW |
10 |
60428321 |
missense |
probably benign |
|
|
Z1177:Cdh23
|
UTSW |
10 |
60323555 |
missense |
possibly damaging |
0.80 |
|
Z1177:Cdh23
|
UTSW |
10 |
60434614 |
critical splice acceptor site |
probably null |
|
|
|---|
| Posted On | 2014-01-21 |
|---|
