Incidental Mutation 'R6066:Cdh23'
ID | 484045 |
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 |
044230-MU
|
Accession Numbers | |
Is this an essential gene? |
Possibly essential (E-score: 0.719)
|
Stock # | R6066 (G1)
|
Quality Score | 225.009 |
Status |
Not validated
|
Chromosome | 10 |
Chromosomal Location | 60302748-60696490 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
A to T
at 60433758 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 661
(V661E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101103
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073242]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105463]
[ENSMUST00000105464]
|
PDB Structure |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000073242
AA Change: V661E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000072973 Gene: ENSMUSG00000012819 AA Change: V661E
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: V661E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101101 Gene: ENSMUSG00000012819 AA Change: V661E
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: V664E
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000101102 Gene: ENSMUSG00000012819 AA Change: V664E
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: V661E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000101103 Gene: ENSMUSG00000012819 AA Change: V661E
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 |
possibly damaging
Transcript: ENSMUST00000105464
AA Change: V659E
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101104 Gene: ENSMUSG00000012819 AA Change: V659E
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
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.7%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acyp2 |
C |
T |
11: 30,506,354 |
E98K |
possibly damaging |
Het |
Adgrb1 |
T |
C |
15: 74,540,459 |
F429S |
probably damaging |
Het |
Ahi1 |
A |
T |
10: 20,959,926 |
M53L |
possibly damaging |
Het |
Ahr |
A |
T |
12: 35,504,921 |
F400I |
probably damaging |
Het |
Ak7 |
G |
T |
12: 105,733,491 |
G223V |
possibly damaging |
Het |
Alpk3 |
A |
G |
7: 81,076,950 |
I128V |
possibly damaging |
Het |
Ampd3 |
A |
T |
7: 110,793,767 |
E247D |
probably benign |
Het |
Arhgap44 |
CTGCT |
CTGCTTGCT |
11: 65,032,084 |
|
probably null |
Het |
Arhgef10l |
A |
G |
4: 140,577,080 |
F243L |
probably damaging |
Het |
Cox8c |
A |
G |
12: 102,900,275 |
T53A |
probably benign |
Het |
Creld2 |
C |
A |
15: 88,823,766 |
T236K |
possibly damaging |
Het |
Cul3 |
A |
T |
1: 80,283,759 |
C250S |
probably benign |
Het |
Dhx37 |
A |
C |
5: 125,424,666 |
F510V |
probably benign |
Het |
Fblim1 |
T |
C |
4: 141,577,909 |
D350G |
probably damaging |
Het |
Lipm |
A |
G |
19: 34,112,974 |
Y185C |
probably damaging |
Het |
Mfsd4b4 |
A |
G |
10: 39,892,053 |
F348S |
probably benign |
Het |
Misp |
A |
G |
10: 79,826,312 |
R188G |
possibly damaging |
Het |
Nbeal1 |
T |
G |
1: 60,248,405 |
I936S |
probably benign |
Het |
Ngly1 |
G |
A |
14: 16,294,634 |
M521I |
probably benign |
Het |
Nlrp9a |
A |
T |
7: 26,558,085 |
Y376F |
probably benign |
Het |
Oas3 |
T |
C |
5: 120,772,924 |
K197R |
probably damaging |
Het |
Pars2 |
T |
C |
4: 106,654,079 |
Y353H |
probably damaging |
Het |
Pik3r1 |
T |
C |
13: 101,686,320 |
N625D |
possibly damaging |
Het |
Pkhd1l1 |
T |
A |
15: 44,528,129 |
S1530R |
probably damaging |
Het |
Rsph6a |
C |
T |
7: 19,065,815 |
P457L |
probably damaging |
Het |
Secisbp2 |
T |
C |
13: 51,677,222 |
S565P |
probably benign |
Het |
Slc28a3 |
T |
C |
13: 58,578,487 |
M163V |
probably benign |
Het |
Slc35e2 |
C |
T |
4: 155,610,026 |
P10L |
probably benign |
Het |
Svil |
T |
G |
18: 5,106,724 |
V1855G |
probably damaging |
Het |
Szt2 |
T |
C |
4: 118,371,974 |
T2890A |
unknown |
Het |
Tatdn3 |
A |
T |
1: 191,046,268 |
V242E |
probably benign |
Het |
Vmn1r22 |
T |
G |
6: 57,900,879 |
M38L |
probably benign |
Het |
Vmn2r104 |
A |
G |
17: 20,038,311 |
F524L |
possibly damaging |
Het |
Vmn2r94 |
A |
G |
17: 18,257,433 |
S239P |
probably damaging |
Het |
Xpo7 |
T |
C |
14: 70,682,338 |
D679G |
probably null |
Het |
Zbtb42 |
C |
A |
12: 112,679,607 |
T72K |
probably damaging |
Het |
Zfp493 |
G |
A |
13: 67,786,950 |
A341T |
possibly damaging |
Het |
Zfp811 |
A |
G |
17: 32,798,827 |
C80R |
possibly 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 |
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 |
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 |
X0052:Cdh23
|
UTSW |
10 |
60385134 |
missense |
probably damaging |
1.00 |
Z1088:Cdh23
|
UTSW |
10 |
60413644 |
missense |
probably benign |
0.35 |
|
Predicted Primers |
PCR Primer
(F):5'- GTCATACACCTCTCACTGAGC -3'
(R):5'- AAATGCTGTAGCTGGGTGGC -3'
Sequencing Primer
(F):5'- GCAGGCAGCATGGCAAC -3'
(R):5'- CTGAACTCTGTTTGTTAAGGTCC -3'
|
Posted On | 2017-07-14 |