Incidental Mutation 'IGL01655:Ctnna3'
| ID |
102978 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ctnna3
|
| Ensembl Gene |
ENSMUSG00000060843 |
| Gene Name |
catenin alpha 3 |
| Synonyms |
4930429L08Rik, catenin (cadherin associated protein), alpha 3, alphaT-catenin, Vr22, Catna3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.232)
|
| Stock # |
IGL01655
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
63265877-64839446 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 64708949 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 663
(T663A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101081
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075099]
[ENSMUST00000105440]
[ENSMUST00000105441]
|
| AlphaFold |
Q65CL1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075099
AA Change: T663A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000074606
Gene: ENSMUSG00000060843
AA Change: T663A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105440
AA Change: T663A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101080
Gene: ENSMUSG00000060843
AA Change: T663A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105441
AA Change: T663A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000101081
Gene: ENSMUSG00000060843
AA Change: T663A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Vinculin
|
17 |
363 |
5.1e-66 |
PFAM |
|
Pfam:Vinculin
|
324 |
856 |
1e-175 |
PFAM |
|
| 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 encodes a protein that belongs to the vinculin/alpha-catenin family. The encoded protein plays a role in cell-cell adhesion in muscle cells. Mutations in this gene are associated with arrhythmogenic right ventricular dysplasia, familial 13. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2014]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased heart weight, increased ventricle size, dilated cardiomyopathy and increased susceptibility to ischemia-induced arrhythmias and mortality. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp6 |
G |
A |
3: 97,073,288 (GRCm39) |
|
probably null |
Het |
| Aida |
T |
A |
1: 183,094,618 (GRCm39) |
Y104* |
probably null |
Het |
| Cd300lg |
T |
C |
11: 101,937,901 (GRCm39) |
S244P |
probably benign |
Het |
| Ces4a |
T |
A |
8: 105,873,806 (GRCm39) |
L425Q |
probably damaging |
Het |
| Chrnb3 |
T |
C |
8: 27,884,202 (GRCm39) |
V298A |
probably damaging |
Het |
| Cnot6 |
A |
C |
11: 49,568,131 (GRCm39) |
F486C |
probably damaging |
Het |
| Cyp2j12 |
T |
A |
4: 96,003,814 (GRCm39) |
K267N |
possibly damaging |
Het |
| Dclre1a |
A |
T |
19: 56,535,489 (GRCm39) |
Y32N |
probably damaging |
Het |
| Ddx21 |
A |
G |
10: 62,423,270 (GRCm39) |
I644T |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ercc6l2 |
T |
A |
13: 63,967,566 (GRCm39) |
Y55* |
probably null |
Het |
| Esyt1 |
A |
G |
10: 128,358,181 (GRCm39) |
I183T |
possibly damaging |
Het |
| Exoc8 |
T |
C |
8: 125,622,967 (GRCm39) |
T467A |
probably benign |
Het |
| Fance |
T |
C |
17: 28,541,753 (GRCm39) |
|
probably benign |
Het |
| Fbxo46 |
C |
T |
7: 18,870,235 (GRCm39) |
R285W |
probably damaging |
Het |
| Ffar2 |
A |
T |
7: 30,519,012 (GRCm39) |
V176E |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,362,398 (GRCm39) |
|
probably null |
Het |
| Gm10288 |
T |
C |
3: 146,544,565 (GRCm39) |
|
noncoding transcript |
Het |
| Gm12588 |
T |
A |
11: 121,798,777 (GRCm39) |
|
|
Het |
| Gm9755 |
G |
A |
8: 67,967,885 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr33 |
A |
T |
12: 52,070,343 (GRCm39) |
M232K |
probably damaging |
Het |
| Haus5 |
A |
T |
7: 30,362,719 (GRCm39) |
|
probably benign |
Het |
| Ilvbl |
A |
G |
10: 78,413,167 (GRCm39) |
|
probably benign |
Het |
| Kifap3 |
G |
A |
1: 163,623,618 (GRCm39) |
|
probably benign |
Het |
| Klhl26 |
T |
C |
8: 70,904,533 (GRCm39) |
Y378C |
probably damaging |
Het |
| Lama4 |
G |
A |
10: 38,936,209 (GRCm39) |
S628N |
probably benign |
Het |
| Lamc3 |
G |
A |
2: 31,788,290 (GRCm39) |
R150H |
probably damaging |
Het |
| Mrgprx2 |
A |
T |
7: 48,132,439 (GRCm39) |
C126* |
probably null |
Het |
| Myo3a |
A |
T |
2: 22,428,137 (GRCm39) |
D798V |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,190,716 (GRCm39) |
L44Q |
probably damaging |
Het |
| Nfrkb |
G |
T |
9: 31,314,755 (GRCm39) |
R525L |
probably benign |
Het |
| Or10ag58 |
T |
A |
2: 87,265,229 (GRCm39) |
C133S |
probably damaging |
Het |
| Or1e34 |
T |
C |
11: 73,778,753 (GRCm39) |
I148M |
probably benign |
Het |
| Or2p2 |
T |
C |
13: 21,257,075 (GRCm39) |
Y132C |
probably damaging |
Het |
| Or2r11 |
T |
C |
6: 42,437,474 (GRCm39) |
T160A |
probably benign |
Het |
| Or4k41 |
T |
C |
2: 111,280,234 (GRCm39) |
F250L |
probably benign |
Het |
| Or4q3 |
A |
G |
14: 50,583,641 (GRCm39) |
M86T |
probably benign |
Het |
| Or5w1 |
A |
G |
2: 87,486,773 (GRCm39) |
F164S |
probably damaging |
Het |
| Or8g17 |
T |
A |
9: 38,930,214 (GRCm39) |
I208F |
probably benign |
Het |
| Or9r7 |
G |
T |
10: 129,962,860 (GRCm39) |
T22K |
probably benign |
Het |
| Pias4 |
T |
C |
10: 80,991,492 (GRCm39) |
K352E |
probably benign |
Het |
| Pkhd1 |
G |
A |
1: 20,604,857 (GRCm39) |
Q1153* |
probably null |
Het |
| Pon1 |
C |
A |
6: 5,175,760 (GRCm39) |
W254C |
probably damaging |
Het |
| Prr14 |
A |
G |
7: 127,074,939 (GRCm39) |
T447A |
probably benign |
Het |
| Serpinb9g |
T |
A |
13: 33,679,088 (GRCm39) |
C319* |
probably null |
Het |
| Slc9c1 |
A |
T |
16: 45,403,335 (GRCm39) |
M801L |
probably benign |
Het |
| Tenm4 |
C |
T |
7: 96,202,931 (GRCm39) |
T182M |
probably damaging |
Het |
| Ubr4 |
T |
A |
4: 139,135,107 (GRCm39) |
L813Q |
probably damaging |
Het |
| Uimc1 |
T |
C |
13: 55,176,517 (GRCm39) |
E667G |
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,134,546 (GRCm39) |
T2173A |
probably benign |
Het |
| Unkl |
T |
C |
17: 25,429,822 (GRCm39) |
S142P |
probably benign |
Het |
| Vezt |
A |
G |
10: 93,832,859 (GRCm39) |
V204A |
probably benign |
Het |
| Vps53 |
A |
T |
11: 75,953,860 (GRCm39) |
I402N |
probably damaging |
Het |
| Zfyve9 |
T |
C |
4: 108,499,289 (GRCm39) |
D1343G |
probably damaging |
Het |
|
| Other mutations in Ctnna3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00785:Ctnna3
|
APN |
10 |
63,402,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00823:Ctnna3
|
APN |
10 |
63,373,322 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL00963:Ctnna3
|
APN |
10 |
64,781,728 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01388:Ctnna3
|
APN |
10 |
63,339,886 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01783:Ctnna3
|
APN |
10 |
63,656,248 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01909:Ctnna3
|
APN |
10 |
63,339,910 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL02160:Ctnna3
|
APN |
10 |
64,086,477 (GRCm39) |
missense |
probably benign |
|
|
IGL02267:Ctnna3
|
APN |
10 |
64,781,777 (GRCm39) |
missense |
probably benign |
0.20 |
|
IGL02524:Ctnna3
|
APN |
10 |
64,096,605 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
IGL02707:Ctnna3
|
APN |
10 |
63,339,844 (GRCm39) |
missense |
probably benign |
|
|
IGL03165:Ctnna3
|
APN |
10 |
64,781,720 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Bipolar
|
UTSW |
10 |
64,708,986 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Catatonia
|
UTSW |
10 |
64,421,774 (GRCm39) |
missense |
probably benign |
|
|
hebephrenia
|
UTSW |
10 |
64,096,714 (GRCm39) |
missense |
probably benign |
0.17 |
|
multiple
|
UTSW |
10 |
64,086,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4687001:Ctnna3
|
UTSW |
10 |
64,670,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Ctnna3
|
UTSW |
10 |
63,402,619 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0387:Ctnna3
|
UTSW |
10 |
64,421,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0523:Ctnna3
|
UTSW |
10 |
64,511,688 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0647:Ctnna3
|
UTSW |
10 |
63,656,203 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0676:Ctnna3
|
UTSW |
10 |
64,245,040 (GRCm39) |
missense |
probably benign |
0.20 |
|
R1102:Ctnna3
|
UTSW |
10 |
64,421,774 (GRCm39) |
missense |
probably benign |
|
|
R1521:Ctnna3
|
UTSW |
10 |
64,795,621 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1700:Ctnna3
|
UTSW |
10 |
63,688,551 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1874:Ctnna3
|
UTSW |
10 |
63,339,886 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1995:Ctnna3
|
UTSW |
10 |
63,656,143 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2088:Ctnna3
|
UTSW |
10 |
64,708,986 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2198:Ctnna3
|
UTSW |
10 |
64,838,524 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4056:Ctnna3
|
UTSW |
10 |
64,838,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4208:Ctnna3
|
UTSW |
10 |
64,795,557 (GRCm39) |
missense |
probably benign |
0.22 |
|
R4440:Ctnna3
|
UTSW |
10 |
64,096,714 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4568:Ctnna3
|
UTSW |
10 |
63,688,588 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4594:Ctnna3
|
UTSW |
10 |
64,421,858 (GRCm39) |
missense |
probably benign |
0.32 |
|
R4835:Ctnna3
|
UTSW |
10 |
63,417,723 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4849:Ctnna3
|
UTSW |
10 |
64,709,094 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5682:Ctnna3
|
UTSW |
10 |
64,709,085 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5777:Ctnna3
|
UTSW |
10 |
64,511,664 (GRCm39) |
missense |
probably benign |
|
|
R6414:Ctnna3
|
UTSW |
10 |
64,096,644 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7210:Ctnna3
|
UTSW |
10 |
64,086,547 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7220:Ctnna3
|
UTSW |
10 |
64,670,368 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7680:Ctnna3
|
UTSW |
10 |
64,323,329 (GRCm39) |
missense |
probably benign |
|
|
R7934:Ctnna3
|
UTSW |
10 |
64,421,747 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8006:Ctnna3
|
UTSW |
10 |
63,417,790 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8272:Ctnna3
|
UTSW |
10 |
64,838,377 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8415:Ctnna3
|
UTSW |
10 |
63,339,909 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9202:Ctnna3
|
UTSW |
10 |
64,708,947 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ctnna3
|
UTSW |
10 |
63,417,757 (GRCm39) |
missense |
probably benign |
0.30 |
|
| Posted On |
2014-01-21 |
Incidental Mutation