Incidental Mutation 'IGL02175:Cdh23'
List
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|
ID | 283064 |
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: 0.728)
|
Stock # | IGL02175
|
Quality Score | |
Status |
|
Chromosome | 10 |
Chromosomal Location | 60302748-60696490 bp(-) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
T to C
at 60331308 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 1855
(N1855S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000101102
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073242]
[ENSMUST00000105461]
[ENSMUST00000105462]
[ENSMUST00000105463]
[ENSMUST00000105464]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000073242
AA Change: N1852S
PolyPhen 2
Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000072973 Gene: ENSMUSG00000012819 AA Change: N1852S
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 |
possibly damaging
Transcript: ENSMUST00000105461
AA Change: N1853S
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101101 Gene: ENSMUSG00000012819 AA Change: N1853S
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: ENSMUST00000105462
AA Change: N1855S
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000101102 Gene: ENSMUSG00000012819 AA Change: N1855S
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 |
possibly damaging
Transcript: ENSMUST00000105463
AA Change: N1853S
PolyPhen 2
Score 0.497 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000101103 Gene: ENSMUSG00000012819 AA Change: N1853S
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: N1851S
PolyPhen 2
Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000101104 Gene: ENSMUSG00000012819 AA Change: N1851S
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 |
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 86,535,013 |
|
probably null |
Het |
Adgrf5 |
A |
G |
17: 43,451,010 |
I1199V |
probably damaging |
Het |
Atm |
T |
A |
9: 53,480,665 |
H1808L |
probably damaging |
Het |
Cadps |
C |
T |
14: 12,467,092 |
V942M |
probably damaging |
Het |
Capns1 |
T |
C |
7: 30,190,532 |
D116G |
probably benign |
Het |
Ccdc110 |
T |
G |
8: 45,940,623 |
M124R |
probably benign |
Het |
Dstyk |
T |
A |
1: 132,449,391 |
L245* |
probably null |
Het |
Dync2h1 |
A |
G |
9: 7,111,548 |
Y289H |
possibly damaging |
Het |
Efcab6 |
G |
A |
15: 83,896,100 |
A1044V |
probably damaging |
Het |
Egr1 |
T |
C |
18: 34,863,055 |
S297P |
probably benign |
Het |
Ercc6l2 |
T |
C |
13: 63,869,190 |
|
probably benign |
Het |
Frem2 |
C |
T |
3: 53,655,599 |
A496T |
possibly damaging |
Het |
Hook2 |
T |
A |
8: 84,991,402 |
W53R |
probably damaging |
Het |
Med19 |
T |
A |
2: 84,678,663 |
|
probably null |
Het |
Mgrn1 |
A |
G |
16: 4,920,368 |
N262S |
probably benign |
Het |
Nbas |
T |
G |
12: 13,566,259 |
|
probably null |
Het |
Ndc80 |
A |
C |
17: 71,511,419 |
M314R |
probably benign |
Het |
Nelfcd |
A |
T |
2: 174,420,382 |
T89S |
probably benign |
Het |
Nlrp4a |
A |
T |
7: 26,475,097 |
E969D |
probably damaging |
Het |
Ntrk3 |
A |
G |
7: 78,247,228 |
V687A |
probably damaging |
Het |
Oc90 |
A |
C |
15: 65,883,825 |
S224R |
possibly damaging |
Het |
Olfr1241 |
T |
C |
2: 89,482,282 |
I284M |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 109,100,846 |
H257Y |
possibly damaging |
Het |
Prpf3 |
A |
G |
3: 95,834,107 |
V579A |
probably damaging |
Het |
Rarres1 |
T |
C |
3: 67,495,756 |
N104S |
probably benign |
Het |
Serpina1d |
T |
C |
12: 103,765,696 |
|
probably null |
Het |
Sik2 |
G |
A |
9: 50,895,609 |
Q834* |
probably null |
Het |
Slc39a10 |
G |
A |
1: 46,818,128 |
A696V |
probably damaging |
Het |
Snx13 |
T |
A |
12: 35,132,062 |
N703K |
possibly damaging |
Het |
Spaca9 |
T |
C |
2: 28,695,924 |
I43V |
probably benign |
Het |
Tor1aip2 |
T |
C |
1: 156,065,006 |
S353P |
probably damaging |
Het |
Trmt1l |
T |
C |
1: 151,448,484 |
S361P |
probably benign |
Het |
Trpm2 |
T |
C |
10: 77,937,907 |
H558R |
probably benign |
Het |
Vmn1r75 |
T |
C |
7: 11,880,847 |
C127R |
probably damaging |
Het |
Zfp879 |
A |
T |
11: 50,837,916 |
Y84N |
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 |
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 |
|
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 | 2015-04-16 |