Incidental Mutation 'R4090:Gja8'
ID |
317548 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gja8
|
Ensembl Gene |
ENSMUSG00000049908 |
Gene Name |
gap junction protein, alpha 8 |
Synonyms |
Cnx50, connexin 50, dcm, Cx50, Lop10, alpha 8 connexin, Aey5 |
MMRRC Submission |
040983-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4090 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
96820882-96833336 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 96826468 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 398
(V398A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000049532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062944]
[ENSMUST00000199597]
|
AlphaFold |
P28236 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000062944
AA Change: V398A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000049532 Gene: ENSMUSG00000049908 AA Change: V398A
Domain | Start | End | E-Value | Type |
CNX
|
43 |
76 |
1.76e-20 |
SMART |
low complexity region
|
134 |
147 |
N/A |
INTRINSIC |
Connexin_CCC
|
168 |
234 |
2.8e-41 |
SMART |
Pfam:Connexin50
|
267 |
333 |
7.3e-35 |
PFAM |
low complexity region
|
337 |
355 |
N/A |
INTRINSIC |
low complexity region
|
423 |
438 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000199597
|
SMART Domains |
Protein: ENSMUSP00000143542 Gene: ENSMUSG00000057123
Domain | Start | End | E-Value | Type |
CNX
|
43 |
76 |
3.47e-19 |
SMART |
Connexin_CCC
|
163 |
229 |
2.45e-37 |
SMART |
Pfam:Connexin40_C
|
257 |
358 |
2.4e-33 |
PFAM |
|
Meta Mutation Damage Score |
0.0604 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
96% (53/55) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane connexin protein that is necessary for lens growth and maturation of lens fiber cells. The encoded protein is a component of gap junction channels and functions in a calcium and pH-dependent manner. Mutations in this gene have been associated with zonular pulverulent cataracts, nuclear progressive cataracts, and cataract-microcornea syndrome. [provided by RefSeq, Dec 2009] PHENOTYPE: Homozygous mutants exhibit microphthalmia, with small lenses and nuclear or total cataracts. Heterozygotes may be equally or less affected, depending on the particular mutation and the genetic background. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acss3 |
T |
G |
10: 106,889,313 (GRCm39) |
Y169S |
probably damaging |
Het |
Apc2 |
A |
G |
10: 80,141,378 (GRCm39) |
K268E |
probably damaging |
Het |
Arhgef2 |
G |
C |
3: 88,551,185 (GRCm39) |
R765P |
probably benign |
Het |
Bptf |
T |
C |
11: 106,972,349 (GRCm39) |
K840E |
probably damaging |
Het |
Carf |
A |
G |
1: 60,175,506 (GRCm39) |
R245G |
possibly damaging |
Het |
Cd36 |
A |
G |
5: 17,990,718 (GRCm39) |
|
probably null |
Het |
Cep250 |
G |
A |
2: 155,834,552 (GRCm39) |
R2159K |
probably damaging |
Het |
Cldn34c4 |
A |
T |
X: 126,629,011 (GRCm39) |
V153E |
probably damaging |
Het |
Col4a4 |
T |
A |
1: 82,501,643 (GRCm39) |
Y370F |
unknown |
Het |
Cplane1 |
T |
A |
15: 8,241,842 (GRCm39) |
|
probably null |
Het |
Ddx4 |
A |
G |
13: 112,750,295 (GRCm39) |
V386A |
probably benign |
Het |
Exoc6 |
A |
G |
19: 37,560,360 (GRCm39) |
T126A |
probably benign |
Het |
Fam83f |
A |
T |
15: 80,576,393 (GRCm39) |
N348I |
possibly damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Gm12789 |
A |
T |
4: 101,845,526 (GRCm39) |
T72S |
possibly damaging |
Het |
Gm1988 |
A |
G |
7: 38,820,292 (GRCm39) |
|
noncoding transcript |
Het |
Gm21370 |
A |
G |
13: 120,488,489 (GRCm39) |
V20A |
probably benign |
Het |
Hjurp |
G |
C |
1: 88,204,937 (GRCm39) |
|
probably benign |
Het |
Hsd17b13 |
T |
A |
5: 104,113,720 (GRCm39) |
S245C |
probably benign |
Het |
Htr1f |
T |
C |
16: 64,746,324 (GRCm39) |
K323E |
probably benign |
Het |
Igkc |
T |
C |
6: 70,703,442 (GRCm39) |
|
probably benign |
Het |
Ksr1 |
T |
C |
11: 78,918,303 (GRCm39) |
E535G |
probably damaging |
Het |
Mlxipl |
A |
T |
5: 135,161,381 (GRCm39) |
E433D |
probably benign |
Het |
Npc1 |
T |
C |
18: 12,331,219 (GRCm39) |
|
probably null |
Het |
Or10ak7 |
C |
T |
4: 118,791,230 (GRCm39) |
E272K |
probably benign |
Het |
Or1e29 |
A |
G |
11: 73,667,667 (GRCm39) |
L162P |
probably damaging |
Het |
Or6y1 |
A |
G |
1: 174,276,500 (GRCm39) |
T104A |
probably benign |
Het |
Or7g17 |
T |
C |
9: 18,768,398 (GRCm39) |
I159T |
probably benign |
Het |
Pcdha3 |
A |
G |
18: 37,081,504 (GRCm39) |
R749G |
probably benign |
Het |
Ppme1 |
A |
T |
7: 99,997,044 (GRCm39) |
N122K |
possibly damaging |
Het |
Rasal1 |
G |
A |
5: 120,813,674 (GRCm39) |
V657M |
possibly damaging |
Het |
Rbm47 |
A |
G |
5: 66,180,080 (GRCm39) |
M409T |
probably benign |
Het |
Rragd |
C |
T |
4: 33,007,155 (GRCm39) |
T161M |
probably damaging |
Het |
Slurp1 |
T |
C |
15: 74,598,724 (GRCm39) |
H89R |
possibly damaging |
Het |
Snap23 |
A |
G |
2: 120,416,061 (GRCm39) |
I42V |
probably benign |
Het |
Sypl2 |
A |
G |
3: 108,124,992 (GRCm39) |
I123T |
possibly damaging |
Het |
Taar8a |
T |
A |
10: 23,953,062 (GRCm39) |
V222E |
probably damaging |
Het |
Tmem171 |
A |
T |
13: 98,829,096 (GRCm39) |
V18D |
probably damaging |
Het |
Topors |
T |
C |
4: 40,260,794 (GRCm39) |
D830G |
unknown |
Het |
Traf3ip3 |
A |
G |
1: 192,863,628 (GRCm39) |
V414A |
probably damaging |
Het |
Tubg1 |
T |
A |
11: 101,015,364 (GRCm39) |
M270K |
possibly damaging |
Het |
Vmn1r188 |
T |
C |
13: 22,272,772 (GRCm39) |
V242A |
probably benign |
Het |
Vmn1r19 |
T |
A |
6: 57,381,720 (GRCm39) |
I91N |
probably damaging |
Het |
Vmn2r12 |
T |
A |
5: 109,239,412 (GRCm39) |
M384L |
probably benign |
Het |
Wdr26 |
T |
C |
1: 181,030,679 (GRCm39) |
E205G |
probably damaging |
Het |
Zfp281 |
T |
A |
1: 136,553,859 (GRCm39) |
I279N |
probably damaging |
Het |
Zfp398 |
T |
A |
6: 47,843,159 (GRCm39) |
C272S |
probably damaging |
Het |
Zfp975 |
A |
G |
7: 42,312,298 (GRCm39) |
V105A |
probably benign |
Het |
|
Other mutations in Gja8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01335:Gja8
|
APN |
3 |
96,826,558 (GRCm39) |
missense |
probably benign |
|
IGL02114:Gja8
|
APN |
3 |
96,827,341 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02237:Gja8
|
APN |
3 |
96,827,249 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03204:Gja8
|
APN |
3 |
96,827,408 (GRCm39) |
missense |
probably damaging |
1.00 |
guidance
|
UTSW |
3 |
96,826,740 (GRCm39) |
missense |
probably benign |
0.00 |
L1
|
UTSW |
3 |
96,827,513 (GRCm39) |
missense |
probably damaging |
1.00 |
prediction
|
UTSW |
3 |
96,826,664 (GRCm39) |
missense |
possibly damaging |
0.64 |
R1024:Gja8
|
UTSW |
3 |
96,826,740 (GRCm39) |
missense |
probably benign |
0.00 |
R2215:Gja8
|
UTSW |
3 |
96,827,218 (GRCm39) |
missense |
probably damaging |
0.98 |
R2240:Gja8
|
UTSW |
3 |
96,827,618 (GRCm39) |
missense |
probably benign |
0.05 |
R2510:Gja8
|
UTSW |
3 |
96,827,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R2511:Gja8
|
UTSW |
3 |
96,827,033 (GRCm39) |
missense |
probably damaging |
1.00 |
R2926:Gja8
|
UTSW |
3 |
96,826,469 (GRCm39) |
missense |
probably benign |
0.00 |
R3725:Gja8
|
UTSW |
3 |
96,827,161 (GRCm39) |
missense |
probably damaging |
1.00 |
R4933:Gja8
|
UTSW |
3 |
96,826,351 (GRCm39) |
intron |
probably benign |
|
R5010:Gja8
|
UTSW |
3 |
96,827,165 (GRCm39) |
missense |
probably benign |
0.24 |
R5497:Gja8
|
UTSW |
3 |
96,827,513 (GRCm39) |
missense |
probably damaging |
1.00 |
R5532:Gja8
|
UTSW |
3 |
96,827,648 (GRCm39) |
missense |
probably benign |
0.39 |
R6997:Gja8
|
UTSW |
3 |
96,826,657 (GRCm39) |
missense |
probably benign |
|
R7381:Gja8
|
UTSW |
3 |
96,827,338 (GRCm39) |
missense |
probably benign |
|
R7576:Gja8
|
UTSW |
3 |
96,827,209 (GRCm39) |
missense |
probably benign |
0.05 |
R7792:Gja8
|
UTSW |
3 |
96,827,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R7827:Gja8
|
UTSW |
3 |
96,827,635 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8444:Gja8
|
UTSW |
3 |
96,826,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R9016:Gja8
|
UTSW |
3 |
96,827,521 (GRCm39) |
missense |
probably damaging |
1.00 |
R9081:Gja8
|
UTSW |
3 |
96,826,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R9230:Gja8
|
UTSW |
3 |
96,826,664 (GRCm39) |
missense |
possibly damaging |
0.64 |
Z1177:Gja8
|
UTSW |
3 |
96,827,552 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTATATTGGCACCAGCTGGG -3'
(R):5'- CCTTCTTATGCTCAGGTGGG -3'
Sequencing Primer
(F):5'- CCAGCTGGGTTTATCTTGGTC -3'
(R):5'- ATGCTCAGGTGGGGGTCC -3'
|
Posted On |
2015-05-15 |