Incidental Mutation 'R4542:Gja1'
| ID |
333591 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gja1
|
| Ensembl Gene |
ENSMUSG00000050953 |
| Gene Name |
gap junction protein, alpha 1 |
| Synonyms |
Gja-1, Cnx43, Cx43, connexin43, alpha 1 connexin, Cx43alpha1, connexin 43 |
| MMRRC Submission |
041593-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4542 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
56253297-56266519 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 56264148 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 169
(F169S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151620
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068581]
[ENSMUST00000217789]
[ENSMUST00000218444]
[ENSMUST00000218834]
[ENSMUST00000220069]
[ENSMUST00000220194]
|
| AlphaFold |
P23242 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068581
AA Change: F169S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064536
Gene: ENSMUSG00000050953
AA Change: F169S
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
43 |
76 |
5.34e-20 |
SMART |
|
low complexity region
|
102 |
114 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
165 |
231 |
5.06e-39 |
SMART |
|
Pfam:Connexin43
|
293 |
312 |
5e-14 |
PFAM |
|
low complexity region
|
362 |
377 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217789
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218444
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218834
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000220069
AA Change: F169S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220194
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220204
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. The encoded protein is the major protein of gap junctions in the heart that are thought to have a crucial role in the synchronized contraction of the heart and in embryonic development. A related intronless pseudogene has been mapped to chromosome 5. Mutations in this gene have been associated with oculodentodigital dysplasia, autosomal recessive craniometaphyseal dysplasia and heart malformations. [provided by RefSeq, May 2014]
PHENOTYPE: Mutant homozygotes are neonatal lethal with heart and outflow tract malformations, eye lens anomalies, and male germ cell deficiency. Conditional deletion in ovary affects follicular development, in astrocytes enhances locomotor activity, and in neural cells produces behavioral and neural defects. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
A |
T |
9: 57,163,875 (GRCm39) |
L833Q |
probably damaging |
Het |
| Adcy6 |
C |
G |
15: 98,496,869 (GRCm39) |
V469L |
possibly damaging |
Het |
| Bag4 |
C |
T |
8: 26,259,516 (GRCm39) |
A228T |
probably benign |
Het |
| Bean1 |
T |
A |
8: 104,937,591 (GRCm39) |
F57I |
probably damaging |
Het |
| Brinp1 |
T |
C |
4: 68,680,329 (GRCm39) |
I734V |
probably benign |
Het |
| Cab39l |
C |
A |
14: 59,734,351 (GRCm39) |
D23E |
probably benign |
Het |
| Cfap54 |
T |
C |
10: 92,860,991 (GRCm39) |
T839A |
probably benign |
Het |
| Clgn |
A |
G |
8: 84,146,838 (GRCm39) |
E297G |
probably damaging |
Het |
| Crip1 |
A |
G |
12: 113,117,109 (GRCm39) |
Y108C |
probably damaging |
Het |
| Cxcr2 |
A |
G |
1: 74,197,688 (GRCm39) |
S61G |
probably benign |
Het |
| Dph5 |
T |
C |
3: 115,722,274 (GRCm39) |
S251P |
probably damaging |
Het |
| E2f7 |
T |
A |
10: 110,602,984 (GRCm39) |
V333E |
probably damaging |
Het |
| Eif4g3 |
A |
G |
4: 137,930,728 (GRCm39) |
D918G |
probably damaging |
Het |
| Epn1 |
A |
G |
7: 5,096,980 (GRCm39) |
E254G |
possibly damaging |
Het |
| Fat1 |
T |
C |
8: 45,494,931 (GRCm39) |
C4065R |
probably damaging |
Het |
| Kmt2b |
A |
G |
7: 30,279,684 (GRCm39) |
I1384T |
probably damaging |
Het |
| Ltbp2 |
A |
T |
12: 84,878,593 (GRCm39) |
L302* |
probably null |
Het |
| Nalcn |
T |
C |
14: 123,558,889 (GRCm39) |
|
silent |
Het |
| Nlrp1b |
A |
C |
11: 71,119,151 (GRCm39) |
L48W |
probably damaging |
Het |
| Nlrp4c |
G |
A |
7: 6,103,826 (GRCm39) |
W920* |
probably null |
Het |
| Nr2f1 |
C |
T |
13: 78,337,940 (GRCm39) |
G235D |
probably damaging |
Het |
| Nt5dc2 |
T |
A |
14: 30,860,095 (GRCm39) |
D374E |
probably benign |
Het |
| Or2d3 |
GAACAACAACAA |
GAACAACAA |
7: 106,490,567 (GRCm39) |
|
probably benign |
Het |
| Or51e2 |
T |
C |
7: 102,391,850 (GRCm39) |
D120G |
probably damaging |
Het |
| Or5ak23 |
T |
C |
2: 85,244,287 (GRCm39) |
D312G |
probably benign |
Het |
| Pikfyve |
T |
C |
1: 65,283,589 (GRCm39) |
I742T |
probably damaging |
Het |
| Rftn1 |
A |
G |
17: 50,362,259 (GRCm39) |
|
probably null |
Het |
| Rfx1 |
G |
A |
8: 84,816,866 (GRCm39) |
G466S |
probably damaging |
Het |
| Scn11a |
A |
T |
9: 119,584,200 (GRCm39) |
S1472T |
probably damaging |
Het |
| Sh2d4a |
A |
G |
8: 68,799,394 (GRCm39) |
Q421R |
probably benign |
Het |
| Slc25a10 |
G |
A |
11: 120,388,807 (GRCm39) |
|
probably null |
Het |
| Sost |
G |
A |
11: 101,857,670 (GRCm39) |
P44S |
probably damaging |
Het |
| Spen |
T |
C |
4: 141,204,097 (GRCm39) |
Y1510C |
unknown |
Het |
| Ssu72 |
A |
G |
4: 155,817,934 (GRCm39) |
Q163R |
probably benign |
Het |
| Stau1 |
A |
G |
2: 166,795,181 (GRCm39) |
Y223H |
probably damaging |
Het |
| Syne3 |
A |
T |
12: 104,935,503 (GRCm39) |
S92T |
probably benign |
Het |
| Ulbp1 |
T |
C |
10: 7,406,570 (GRCm39) |
D45G |
probably damaging |
Het |
| Ulk4 |
G |
A |
9: 121,092,704 (GRCm39) |
R178* |
probably null |
Het |
| Vmn1r67 |
A |
G |
7: 10,181,357 (GRCm39) |
Y207C |
probably damaging |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,497 (GRCm39) |
D305G |
possibly damaging |
Het |
| Zbtb18 |
A |
G |
1: 177,276,232 (GRCm39) |
K522E |
probably damaging |
Het |
|
| Other mutations in Gja1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00272:Gja1
|
APN |
10 |
56,264,418 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01660:Gja1
|
APN |
10 |
56,264,544 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02387:Gja1
|
APN |
10 |
56,263,902 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
IGL02596:Gja1
|
APN |
10 |
56,264,348 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R0607:Gja1
|
UTSW |
10 |
56,264,166 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R1386:Gja1
|
UTSW |
10 |
56,264,065 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4084:Gja1
|
UTSW |
10 |
56,264,607 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R4601:Gja1
|
UTSW |
10 |
56,264,325 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5061:Gja1
|
UTSW |
10 |
56,263,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5301:Gja1
|
UTSW |
10 |
56,264,475 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5740:Gja1
|
UTSW |
10 |
56,264,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5808:Gja1
|
UTSW |
10 |
56,264,594 (GRCm39) |
missense |
probably benign |
0.14 |
|
R6120:Gja1
|
UTSW |
10 |
56,264,601 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6192:Gja1
|
UTSW |
10 |
56,264,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7057:Gja1
|
UTSW |
10 |
56,264,129 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7227:Gja1
|
UTSW |
10 |
56,263,752 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7894:Gja1
|
UTSW |
10 |
56,264,645 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8559:Gja1
|
UTSW |
10 |
56,264,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCTGTACTTGGCTCACGTG -3'
(R):5'- ATGATATTCAGAGCGAGAGACACC -3'
Sequencing Primer
(F):5'- ACTTGGCTCACGTGTTCTATG -3'
(R):5'- GCGAGAGACACCAAGGACAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation