Incidental Mutation 'IGL01504:Gja10'
ID |
88985 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gja10
|
Ensembl Gene |
ENSMUSG00000051056 |
Gene Name |
gap junction protein, alpha 10 |
Synonyms |
Cx59, Cx57, Cx-57, connexin-57 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01504
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
32596960-32602760 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 32602375 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 3
(D3V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056517]
[ENSMUST00000219644]
|
AlphaFold |
Q9WUS4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000056517
AA Change: D3V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000061742 Gene: ENSMUSG00000051056 AA Change: D3V
Domain | Start | End | E-Value | Type |
CNX
|
43 |
76 |
2.93e-17 |
SMART |
Connexin_CCC
|
167 |
233 |
4.08e-43 |
SMART |
low complexity region
|
445 |
461 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000219644
AA Change: D3V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJA10, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] PHENOTYPE: Homozygous null mice are fertile with no obvious anatomical or behavioral abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc12 |
A |
T |
8: 87,284,231 (GRCm39) |
I326N |
probably damaging |
Het |
Acot6 |
G |
A |
12: 84,156,176 (GRCm39) |
V375M |
probably benign |
Het |
Als2cl |
G |
A |
9: 110,718,351 (GRCm39) |
R364Q |
probably benign |
Het |
Cpa1 |
A |
T |
6: 30,640,720 (GRCm39) |
T121S |
probably benign |
Het |
Ctnnbl1 |
A |
G |
2: 157,660,036 (GRCm39) |
|
probably benign |
Het |
Frrs1 |
C |
A |
3: 116,694,307 (GRCm39) |
Q76K |
probably damaging |
Het |
Insyn2a |
T |
A |
7: 134,519,669 (GRCm39) |
Q287L |
probably benign |
Het |
Krt76 |
T |
C |
15: 101,796,608 (GRCm39) |
E400G |
probably damaging |
Het |
Mdm1 |
A |
G |
10: 117,982,505 (GRCm39) |
T47A |
probably damaging |
Het |
Ncf2 |
A |
G |
1: 152,709,080 (GRCm39) |
K336R |
probably benign |
Het |
Ndrg4 |
C |
A |
8: 96,432,894 (GRCm39) |
L34I |
probably damaging |
Het |
Phf20l1 |
T |
A |
15: 66,469,540 (GRCm39) |
H148Q |
possibly damaging |
Het |
Rhobtb1 |
A |
G |
10: 69,085,528 (GRCm39) |
H89R |
probably damaging |
Het |
Sult1e1 |
T |
C |
5: 87,724,160 (GRCm39) |
N266D |
probably damaging |
Het |
Sult2a2 |
T |
C |
7: 13,472,189 (GRCm39) |
S129P |
probably damaging |
Het |
Trank1 |
A |
G |
9: 111,202,612 (GRCm39) |
E1659G |
probably damaging |
Het |
Trpa1 |
T |
G |
1: 14,952,443 (GRCm39) |
I863L |
possibly damaging |
Het |
Vmn1r177 |
C |
T |
7: 23,565,835 (GRCm39) |
V14M |
probably damaging |
Het |
Vmn2r14 |
A |
T |
5: 109,369,285 (GRCm39) |
M96K |
probably benign |
Het |
Zp1 |
C |
T |
19: 10,896,375 (GRCm39) |
V117M |
probably damaging |
Het |
|
Other mutations in Gja10 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00501:Gja10
|
APN |
4 |
32,601,230 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL01413:Gja10
|
APN |
4 |
32,602,070 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01720:Gja10
|
APN |
4 |
32,601,007 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02606:Gja10
|
APN |
4 |
32,601,509 (GRCm39) |
missense |
probably benign |
0.39 |
IGL02832:Gja10
|
APN |
4 |
32,602,147 (GRCm39) |
missense |
probably damaging |
0.99 |
R1806:Gja10
|
UTSW |
4 |
32,601,135 (GRCm39) |
missense |
probably benign |
0.11 |
R1893:Gja10
|
UTSW |
4 |
32,601,541 (GRCm39) |
missense |
probably benign |
0.39 |
R1928:Gja10
|
UTSW |
4 |
32,601,812 (GRCm39) |
nonsense |
probably null |
|
R4452:Gja10
|
UTSW |
4 |
32,601,313 (GRCm39) |
missense |
probably benign |
|
R4457:Gja10
|
UTSW |
4 |
32,601,073 (GRCm39) |
missense |
probably benign |
0.01 |
R5428:Gja10
|
UTSW |
4 |
32,601,169 (GRCm39) |
missense |
probably benign |
0.41 |
R6902:Gja10
|
UTSW |
4 |
32,601,905 (GRCm39) |
missense |
probably damaging |
1.00 |
R7126:Gja10
|
UTSW |
4 |
32,601,014 (GRCm39) |
missense |
probably benign |
0.00 |
R7488:Gja10
|
UTSW |
4 |
32,602,058 (GRCm39) |
nonsense |
probably null |
|
R8296:Gja10
|
UTSW |
4 |
32,601,568 (GRCm39) |
missense |
probably benign |
0.17 |
R8305:Gja10
|
UTSW |
4 |
32,602,441 (GRCm39) |
start gained |
probably benign |
|
R8489:Gja10
|
UTSW |
4 |
32,601,866 (GRCm39) |
missense |
probably benign |
0.01 |
R8535:Gja10
|
UTSW |
4 |
32,602,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R8855:Gja10
|
UTSW |
4 |
32,601,573 (GRCm39) |
nonsense |
probably null |
|
R8877:Gja10
|
UTSW |
4 |
32,602,441 (GRCm39) |
start gained |
probably benign |
|
R8898:Gja10
|
UTSW |
4 |
32,601,058 (GRCm39) |
missense |
probably benign |
0.03 |
R9634:Gja10
|
UTSW |
4 |
32,601,877 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-12-03 |