Incidental Mutation 'R2306:Cdh23'
ID | 244598 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Cdh23
|
Ensembl Gene |
ENSMUSG00000012819 |
Gene Name | cadherin 23 (otocadherin) |
Synonyms | nmf252, bob, ahl, mdfw, 4930542A03Rik, sals, nmf112, nmf181, USH1D |
MMRRC Submission |
040305-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.728)
|
Stock # | R2306 (G1)
|
Quality Score | 225 |
Status |
Validated
|
Chromosome | 10 |
Chromosomal Location | 60302748-60696490 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to G
at 60323445 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Serine to Proline
at position 2185
(S2185P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000072973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073242]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105463]
[ENSMUST00000105464]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073242
AA Change: S2185P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000072973 Gene: ENSMUSG00000012819 AA Change: S2185P
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 damaging
Transcript: ENSMUST00000105461
AA Change: S2186P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101101 Gene: ENSMUSG00000012819 AA Change: S2186P
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 damaging
Transcript: ENSMUST00000105462
AA Change: S2188P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101102 Gene: ENSMUSG00000012819 AA Change: S2188P
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 damaging
Transcript: ENSMUST00000105463
AA Change: S2186P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101103 Gene: ENSMUSG00000012819 AA Change: S2186P
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 damaging
Transcript: ENSMUST00000105464
AA Change: S2184P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101104 Gene: ENSMUSG00000012819 AA Change: S2184P
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 |
noncoding transcript
Transcript: ENSMUST00000128249
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135638
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151194
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153525
|
Meta Mutation Damage Score |
0.3637
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 94.4%
|
Validation Efficiency |
100% (34/34) |
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf2 |
G |
A |
17: 42,713,119 |
H154Y |
possibly damaging |
Het |
Arhgef7 |
T |
A |
8: 11,812,680 |
Y501* |
probably null |
Het |
Atmin |
T |
C |
8: 116,957,650 |
F683S |
probably benign |
Het |
Bcat1 |
A |
G |
6: 145,007,653 |
V403A |
probably damaging |
Het |
C4b |
T |
G |
17: 34,728,518 |
M1729L |
probably benign |
Het |
Crispld2 |
T |
G |
8: 120,026,071 |
V286G |
probably damaging |
Het |
Ctsw |
T |
C |
19: 5,466,982 |
|
probably null |
Het |
Dnaic1 |
T |
C |
4: 41,625,239 |
V401A |
probably benign |
Het |
Gm10801 |
G |
C |
2: 98,664,007 |
R143T |
possibly damaging |
Het |
Ifitm2 |
T |
A |
7: 140,955,789 |
T43S |
probably damaging |
Het |
Mark1 |
A |
T |
1: 184,900,861 |
|
probably benign |
Het |
Mme |
A |
G |
3: 63,300,252 |
I40V |
probably benign |
Het |
Mroh2a |
A |
G |
1: 88,258,664 |
S64G |
probably benign |
Het |
Nfatc2 |
A |
C |
2: 168,590,103 |
F30C |
probably damaging |
Het |
Npr2 |
T |
A |
4: 43,633,609 |
V251D |
probably damaging |
Het |
Pax8 |
T |
A |
2: 24,443,045 |
Y96F |
probably damaging |
Het |
Ppp1r13b |
T |
C |
12: 111,844,893 |
E187G |
probably damaging |
Het |
Rbp3 |
A |
T |
14: 33,962,563 |
D1183V |
probably damaging |
Het |
Reln |
T |
G |
5: 21,896,786 |
D3382A |
probably damaging |
Het |
Rfc3 |
A |
G |
5: 151,643,778 |
L271P |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,147,663 |
C537R |
probably damaging |
Het |
Sdk1 |
C |
T |
5: 141,962,700 |
A600V |
probably benign |
Het |
Sfr1 |
T |
C |
19: 47,734,852 |
I265T |
probably damaging |
Het |
Syt13 |
G |
A |
2: 92,940,967 |
R133H |
probably benign |
Het |
Tmem231 |
A |
T |
8: 111,918,871 |
V132D |
probably damaging |
Het |
Tmem247 |
C |
A |
17: 86,918,441 |
A103E |
probably benign |
Het |
Unc119b |
A |
T |
5: 115,125,475 |
Y223* |
probably null |
Het |
Vmn1r196 |
T |
A |
13: 22,293,303 |
F37L |
probably benign |
Het |
Vps13c |
T |
A |
9: 67,987,993 |
Y3627N |
probably damaging |
Het |
Zfp292 |
C |
A |
4: 34,809,468 |
S1192I |
probably damaging |
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 |
IGL01734:Cdh23
|
APN |
10 |
60303513 |
missense |
probably benign |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGCAAGGACTCTGGGTTTG -3'
(R):5'- AGTCATCCGTGTTGGCAATGC -3'
Sequencing Primer
(F):5'- CAAGGACTCTGGGTTTGGGTCAG -3'
(R):5'- TGCCACCATCGACAGAGAAGAG -3'
|
Posted On | 2014-10-30 |