Incidental Mutation 'R4452:Gja10'
ID |
328998 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gja10
|
Ensembl Gene |
ENSMUSG00000051056 |
Gene Name |
gap junction protein, alpha 10 |
Synonyms |
Cx59, Cx57, Cx-57, connexin-57 |
MMRRC Submission |
041713-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4452 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
32596960-32602760 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 32601313 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 357
(V357A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000151323
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056517]
[ENSMUST00000219644]
|
AlphaFold |
Q9WUS4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000056517
AA Change: V357A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000061742 Gene: ENSMUSG00000051056 AA Change: V357A
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 benign
Transcript: ENSMUST00000219644
AA Change: V357A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 95.0%
|
Validation Efficiency |
98% (48/49) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm4 |
A |
G |
7: 119,297,797 (GRCm39) |
T145A |
possibly damaging |
Het |
Adgra1 |
G |
T |
7: 139,432,437 (GRCm39) |
A92S |
probably benign |
Het |
Aim2 |
A |
G |
1: 173,283,010 (GRCm39) |
T31A |
possibly damaging |
Het |
Cd46 |
G |
A |
1: 194,767,668 (GRCm39) |
A131V |
possibly damaging |
Het |
Cdc27 |
A |
T |
11: 104,408,221 (GRCm39) |
M563K |
probably benign |
Het |
Chd9 |
A |
T |
8: 91,704,308 (GRCm39) |
N721I |
probably damaging |
Het |
Cnn2 |
A |
G |
10: 79,827,276 (GRCm39) |
D49G |
probably benign |
Het |
Cul1 |
T |
A |
6: 47,485,923 (GRCm39) |
Y323* |
probably null |
Het |
D5Ertd579e |
A |
G |
5: 36,773,814 (GRCm39) |
W194R |
probably damaging |
Het |
Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
Dnah9 |
C |
T |
11: 65,917,908 (GRCm39) |
A2249T |
probably damaging |
Het |
Dppa4 |
T |
A |
16: 48,109,699 (GRCm39) |
D106E |
probably benign |
Het |
Gm20481 |
T |
G |
17: 35,191,109 (GRCm39) |
|
probably benign |
Het |
Grxcr2 |
T |
C |
18: 42,119,609 (GRCm39) |
N244D |
probably damaging |
Het |
Klk1b11 |
T |
A |
7: 43,645,335 (GRCm39) |
F3I |
probably damaging |
Het |
Mid1 |
T |
C |
X: 168,710,421 (GRCm39) |
V139A |
possibly damaging |
Het |
Mycbp2 |
T |
C |
14: 103,393,094 (GRCm39) |
K3046E |
probably damaging |
Het |
Nfasc |
T |
C |
1: 132,562,409 (GRCm39) |
N122S |
probably damaging |
Het |
Or11j4 |
A |
T |
14: 50,630,369 (GRCm39) |
Y52F |
probably benign |
Het |
Or4c124 |
T |
A |
2: 89,155,597 (GRCm39) |
D309V |
possibly damaging |
Het |
Or52ac1 |
T |
A |
7: 104,245,846 (GRCm39) |
M181L |
probably damaging |
Het |
Or52i2 |
T |
C |
7: 102,319,256 (GRCm39) |
V43A |
probably benign |
Het |
Or8d1b |
T |
C |
9: 38,887,382 (GRCm39) |
S137P |
probably benign |
Het |
Or8h9 |
C |
T |
2: 86,789,043 (GRCm39) |
G253D |
probably damaging |
Het |
P2ry10b |
C |
T |
X: 106,214,724 (GRCm39) |
T28I |
probably damaging |
Het |
Pdxdc1 |
T |
C |
16: 13,654,990 (GRCm39) |
Y675C |
possibly damaging |
Het |
Plcl1 |
A |
G |
1: 55,736,045 (GRCm39) |
N462S |
probably benign |
Het |
Ptf1a |
G |
T |
2: 19,451,092 (GRCm39) |
A141S |
possibly damaging |
Het |
Pzp |
A |
G |
6: 128,468,203 (GRCm39) |
L1028P |
probably damaging |
Het |
Qrsl1 |
A |
G |
10: 43,758,158 (GRCm39) |
S312P |
probably damaging |
Het |
Sars2 |
A |
G |
7: 28,449,518 (GRCm39) |
T349A |
probably benign |
Het |
Scarb1 |
A |
T |
5: 125,377,409 (GRCm39) |
F208I |
probably damaging |
Het |
Scn8a |
A |
G |
15: 100,854,972 (GRCm39) |
N153S |
possibly damaging |
Het |
Sema4c |
A |
T |
1: 36,592,837 (GRCm39) |
V127D |
probably benign |
Het |
Smg6 |
C |
G |
11: 74,880,967 (GRCm39) |
S931C |
probably benign |
Het |
Trpm2 |
A |
T |
10: 77,759,427 (GRCm39) |
L1119Q |
probably damaging |
Het |
Ubtd2 |
T |
A |
11: 32,449,406 (GRCm39) |
N84K |
probably damaging |
Het |
Ugt2b35 |
A |
T |
5: 87,151,237 (GRCm39) |
H281L |
probably damaging |
Het |
Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
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 |
IGL01504:Gja10
|
APN |
4 |
32,602,375 (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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGCCTAATCTGTCTGTCC -3'
(R):5'- AGTCATCCGAGTCAATATACCACG -3'
Sequencing Primer
(F):5'- GGCCTAATCTGTCTGTCCAAACC -3'
(R):5'- TACCACGGTCTAAAAGCATGTG -3'
|
Posted On |
2015-07-21 |