Incidental Mutation 'IGL02428:Cdh6'
ID |
293002 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Cdh6
|
Ensembl Gene |
ENSMUSG00000039385 |
Gene Name |
cadherin 6 |
Synonyms |
K-cadherin, cad6 |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.272)
|
Stock # |
IGL02428
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
13028787-13173761 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 13064516 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 125
(I125F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037113
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036439]
|
AlphaFold |
P97326 |
PDB Structure |
Crystal structure of cadherin-6 EC12 W4A [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000036439
AA Change: I125F
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037113 Gene: ENSMUSG00000039385 AA Change: I125F
Domain | Start | End | E-Value | Type |
CA
|
76 |
157 |
7e-15 |
SMART |
CA
|
181 |
266 |
9.06e-32 |
SMART |
CA
|
290 |
382 |
1.14e-19 |
SMART |
CA
|
405 |
486 |
8.81e-21 |
SMART |
CA
|
509 |
596 |
2.82e-10 |
SMART |
transmembrane domain
|
614 |
636 |
N/A |
INTRINSIC |
Pfam:Cadherin_C
|
639 |
783 |
5.6e-57 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000226917
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the cadherin family of calcium-dependent glycoproteins that mediate cell adhesion and regulate many morphogenetic events during development. The encoded preproprotein is further processed to generate a mature protein. Mice lacking the encoded protein exhibit delay in mesenchyme-to-epithelial conversion and a loss of nephrons. Multiple distinct genes of the cadherin family, including this gene, are found on chromosome 15. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a null allele exhibit delayed mesenchyme to epithelial conversion and loss of nephrons. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700024G13Rik |
T |
C |
14: 32,110,205 (GRCm39) |
|
probably benign |
Het |
AB124611 |
C |
T |
9: 21,440,221 (GRCm39) |
S69L |
possibly damaging |
Het |
Abca6 |
G |
A |
11: 110,069,618 (GRCm39) |
A1566V |
possibly damaging |
Het |
Ahnak |
A |
G |
19: 8,992,197 (GRCm39) |
I4494V |
possibly damaging |
Het |
Ascc3 |
T |
A |
10: 50,721,791 (GRCm39) |
Y2081* |
probably null |
Het |
Cdc42bpb |
T |
C |
12: 111,289,561 (GRCm39) |
T423A |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Csmd2 |
T |
C |
4: 128,368,609 (GRCm39) |
L1845P |
possibly damaging |
Het |
Epha4 |
A |
G |
1: 77,483,385 (GRCm39) |
V208A |
possibly damaging |
Het |
Fanci |
A |
G |
7: 79,094,264 (GRCm39) |
|
probably benign |
Het |
Fezf2 |
T |
C |
14: 12,344,494 (GRCm38) |
E231G |
probably damaging |
Het |
Flnc |
A |
G |
6: 29,451,484 (GRCm39) |
D1566G |
probably damaging |
Het |
Gm11565 |
A |
G |
11: 99,805,811 (GRCm39) |
T68A |
probably benign |
Het |
Ifng |
G |
A |
10: 118,281,159 (GRCm39) |
R154H |
probably damaging |
Het |
Il1r1 |
G |
A |
1: 40,352,392 (GRCm39) |
E521K |
possibly damaging |
Het |
Irf3 |
G |
T |
7: 44,648,163 (GRCm39) |
L9F |
probably damaging |
Het |
Jade1 |
T |
G |
3: 41,568,374 (GRCm39) |
I814S |
probably benign |
Het |
Kcnh1 |
G |
A |
1: 192,019,851 (GRCm39) |
W365* |
probably null |
Het |
Kif16b |
T |
C |
2: 142,514,280 (GRCm39) |
T1209A |
possibly damaging |
Het |
Mcur1 |
A |
T |
13: 43,695,203 (GRCm39) |
S324T |
probably damaging |
Het |
Mgat2 |
C |
A |
12: 69,231,558 (GRCm39) |
A44E |
probably benign |
Het |
Nox1 |
A |
G |
X: 133,008,583 (GRCm39) |
|
probably benign |
Het |
Oga |
A |
T |
19: 45,753,940 (GRCm39) |
W645R |
probably damaging |
Het |
Or52ae7 |
A |
T |
7: 103,119,590 (GRCm39) |
I115F |
probably benign |
Het |
Or5ak23 |
A |
G |
2: 85,244,537 (GRCm39) |
S229P |
probably benign |
Het |
Pcnt |
A |
T |
10: 76,265,090 (GRCm39) |
I340N |
probably damaging |
Het |
Pde11a |
T |
C |
2: 75,877,189 (GRCm39) |
E760G |
possibly damaging |
Het |
Per3 |
C |
T |
4: 151,102,674 (GRCm39) |
|
probably null |
Het |
Rabep1 |
G |
A |
11: 70,808,306 (GRCm39) |
A421T |
probably benign |
Het |
Rint1 |
C |
T |
5: 23,999,450 (GRCm39) |
Q80* |
probably null |
Het |
Rnaset2b |
G |
A |
17: 7,248,568 (GRCm39) |
|
probably null |
Het |
Sccpdh |
T |
C |
1: 179,508,070 (GRCm39) |
Y237H |
probably benign |
Het |
Scn10a |
T |
A |
9: 119,520,628 (GRCm39) |
T91S |
probably damaging |
Het |
Spock1 |
A |
G |
13: 57,592,245 (GRCm39) |
|
probably benign |
Het |
Stat1 |
A |
G |
1: 52,182,125 (GRCm39) |
|
probably benign |
Het |
Svil |
A |
G |
18: 5,118,203 (GRCm39) |
E2212G |
probably damaging |
Het |
Taok1 |
T |
A |
11: 77,440,103 (GRCm39) |
R635W |
probably benign |
Het |
Vmn1r39 |
A |
G |
6: 66,781,946 (GRCm39) |
I124T |
probably benign |
Het |
Vmn2r32 |
T |
C |
7: 7,477,283 (GRCm39) |
I369M |
probably benign |
Het |
|
Other mutations in Cdh6 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00560:Cdh6
|
APN |
15 |
13,034,445 (GRCm39) |
nonsense |
probably null |
|
IGL00675:Cdh6
|
APN |
15 |
13,041,525 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01063:Cdh6
|
APN |
15 |
13,064,581 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01335:Cdh6
|
APN |
15 |
13,051,395 (GRCm39) |
missense |
probably benign |
0.40 |
IGL01351:Cdh6
|
APN |
15 |
13,034,326 (GRCm39) |
missense |
possibly damaging |
0.55 |
IGL02010:Cdh6
|
APN |
15 |
13,034,276 (GRCm39) |
utr 3 prime |
probably benign |
|
PIT4651001:Cdh6
|
UTSW |
15 |
13,044,805 (GRCm39) |
missense |
possibly damaging |
0.69 |
R0124:Cdh6
|
UTSW |
15 |
13,034,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R0256:Cdh6
|
UTSW |
15 |
13,053,868 (GRCm39) |
splice site |
probably benign |
|
R0696:Cdh6
|
UTSW |
15 |
13,051,418 (GRCm39) |
missense |
probably benign |
0.36 |
R1017:Cdh6
|
UTSW |
15 |
13,051,562 (GRCm39) |
missense |
probably benign |
0.06 |
R1240:Cdh6
|
UTSW |
15 |
13,057,541 (GRCm39) |
missense |
possibly damaging |
0.48 |
R1444:Cdh6
|
UTSW |
15 |
13,091,924 (GRCm39) |
missense |
probably benign |
0.00 |
R2008:Cdh6
|
UTSW |
15 |
13,051,562 (GRCm39) |
missense |
possibly damaging |
0.74 |
R2050:Cdh6
|
UTSW |
15 |
13,057,587 (GRCm39) |
missense |
probably benign |
|
R2507:Cdh6
|
UTSW |
15 |
13,041,447 (GRCm39) |
missense |
probably benign |
0.10 |
R3082:Cdh6
|
UTSW |
15 |
13,044,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R3083:Cdh6
|
UTSW |
15 |
13,044,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R3903:Cdh6
|
UTSW |
15 |
13,042,661 (GRCm39) |
missense |
probably benign |
0.39 |
R4591:Cdh6
|
UTSW |
15 |
13,051,572 (GRCm39) |
missense |
possibly damaging |
0.69 |
R4859:Cdh6
|
UTSW |
15 |
13,051,418 (GRCm39) |
missense |
probably benign |
0.36 |
R4898:Cdh6
|
UTSW |
15 |
13,034,774 (GRCm39) |
missense |
probably damaging |
0.99 |
R5242:Cdh6
|
UTSW |
15 |
13,064,497 (GRCm39) |
missense |
probably benign |
0.05 |
R5313:Cdh6
|
UTSW |
15 |
13,034,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R5545:Cdh6
|
UTSW |
15 |
13,041,235 (GRCm39) |
missense |
probably damaging |
1.00 |
R6360:Cdh6
|
UTSW |
15 |
13,041,546 (GRCm39) |
missense |
possibly damaging |
0.82 |
R6650:Cdh6
|
UTSW |
15 |
13,051,487 (GRCm39) |
missense |
probably benign |
0.11 |
R6830:Cdh6
|
UTSW |
15 |
13,044,860 (GRCm39) |
missense |
probably benign |
0.01 |
R7369:Cdh6
|
UTSW |
15 |
13,042,724 (GRCm39) |
missense |
probably damaging |
0.99 |
R7506:Cdh6
|
UTSW |
15 |
13,034,396 (GRCm39) |
missense |
probably damaging |
1.00 |
R8121:Cdh6
|
UTSW |
15 |
13,044,757 (GRCm39) |
missense |
probably damaging |
1.00 |
R8801:Cdh6
|
UTSW |
15 |
13,044,847 (GRCm39) |
missense |
probably damaging |
1.00 |
R8961:Cdh6
|
UTSW |
15 |
13,041,447 (GRCm39) |
missense |
probably benign |
0.12 |
R9218:Cdh6
|
UTSW |
15 |
13,057,556 (GRCm39) |
missense |
probably null |
0.37 |
R9258:Cdh6
|
UTSW |
15 |
13,064,462 (GRCm39) |
missense |
probably damaging |
1.00 |
R9511:Cdh6
|
UTSW |
15 |
13,034,677 (GRCm39) |
missense |
probably damaging |
1.00 |
R9608:Cdh6
|
UTSW |
15 |
13,064,621 (GRCm39) |
missense |
probably damaging |
1.00 |
R9636:Cdh6
|
UTSW |
15 |
13,057,655 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2015-04-16 |