Incidental Mutation 'R8535:Gja10'
| ID |
659198 |
| 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 |
068504-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8535 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
32596960-32602760 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32602274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 37
(L37F)
|
| 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: L37F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000061742
Gene: ENSMUSG00000051056
AA Change: L37F
| 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: L37F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.5893 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (34/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsl6 |
A |
T |
11: 54,229,328 (GRCm39) |
I362F |
probably damaging |
Het |
| Anks1b |
T |
A |
10: 90,784,493 (GRCm39) |
S1154T |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
| Chd7 |
T |
A |
4: 8,859,211 (GRCm39) |
S2434T |
possibly damaging |
Het |
| Crybg2 |
T |
C |
4: 133,808,514 (GRCm39) |
S1372P |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,031,425 (GRCm39) |
Y1002H |
probably benign |
Het |
| Dst |
T |
C |
1: 34,225,082 (GRCm39) |
S1163P |
probably damaging |
Het |
| Fah |
A |
T |
7: 84,250,305 (GRCm39) |
S14T |
probably benign |
Het |
| Gcnt7 |
T |
C |
2: 172,296,466 (GRCm39) |
I119M |
possibly damaging |
Het |
| Gm10750 |
A |
G |
2: 148,857,888 (GRCm39) |
V121A |
unknown |
Het |
| Klhl25 |
G |
A |
7: 75,515,843 (GRCm39) |
V250I |
probably benign |
Het |
| Kmt2a |
A |
C |
9: 44,730,812 (GRCm39) |
S200R |
possibly damaging |
Het |
| Map1b |
T |
A |
13: 99,571,662 (GRCm39) |
D353V |
probably damaging |
Het |
| Myh8 |
G |
A |
11: 67,169,741 (GRCm39) |
R20Q |
probably damaging |
Het |
| Or4c127 |
G |
A |
2: 89,833,511 (GRCm39) |
V254M |
probably benign |
Het |
| Or6c200-ps1 |
T |
C |
10: 128,869,892 (GRCm39) |
Y273C |
probably damaging |
Het |
| Pcnt |
G |
A |
10: 76,256,039 (GRCm39) |
R734W |
probably damaging |
Het |
| Pkn3 |
A |
T |
2: 29,969,936 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
T |
A |
12: 98,646,285 (GRCm39) |
T1058S |
probably damaging |
Het |
| Ryr3 |
A |
G |
2: 112,779,433 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
A |
2: 27,129,657 (GRCm39) |
I263F |
probably damaging |
Het |
| Scart1 |
G |
A |
7: 139,804,634 (GRCm39) |
V546M |
probably benign |
Het |
| Sh3bp5 |
A |
G |
14: 31,139,375 (GRCm39) |
V66A |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,928,730 (GRCm39) |
D294G |
probably benign |
Het |
| Taf4b |
T |
A |
18: 14,955,195 (GRCm39) |
S583T |
probably damaging |
Het |
| Tbcb |
G |
A |
7: 29,926,421 (GRCm39) |
P132L |
probably benign |
Het |
| Tcirg1 |
A |
G |
19: 3,946,324 (GRCm39) |
I791T |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,220,985 (GRCm39) |
V320D |
probably damaging |
Het |
| Tnfrsf19 |
T |
C |
14: 61,208,417 (GRCm39) |
E368G |
probably benign |
Het |
| Trdv2-1 |
T |
A |
14: 54,183,972 (GRCm39) |
I67N |
probably damaging |
Het |
| Unc13c |
G |
A |
9: 73,447,653 (GRCm39) |
T1849I |
probably benign |
Het |
| Vav2 |
G |
A |
2: 27,161,841 (GRCm39) |
T655I |
probably damaging |
Het |
| Vps50 |
T |
C |
6: 3,565,612 (GRCm39) |
Y517H |
possibly damaging |
Het |
| Wdr27 |
G |
A |
17: 15,123,799 (GRCm39) |
T558I |
possibly damaging |
Het |
| Yeats2 |
C |
T |
16: 19,977,926 (GRCm39) |
R137W |
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 |
|
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 |
|
|
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 |
|
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'- TGAGTCTATAAAGGGCATGGC -3'
(R):5'- AGAGTCTGTGCTACTCATGAGC -3'
Sequencing Primer
(F):5'- TGGCCCATATACACCAAAGAAGGG -3'
(R):5'- GAGCATGCCCCTTTATAAGTGACG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation