Incidental Mutation 'IGL02114:Gja8'
| ID |
280299 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gja8
|
| Ensembl Gene |
ENSMUSG00000049908 |
| Gene Name |
gap junction protein, alpha 8 |
| Synonyms |
Cnx50, connexin 50, dcm, Cx50, Lop10, alpha 8 connexin, Aey5 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02114
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96820882-96833336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96827341 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 107
(K107R)
|
| 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: K107R
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: K107R
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700084J12Rik |
C |
A |
15: 33,405,844 (GRCm39) |
|
probably benign |
Het |
| Akap3 |
T |
C |
6: 126,842,959 (GRCm39) |
V526A |
probably damaging |
Het |
| Ano6 |
C |
A |
15: 95,841,341 (GRCm39) |
S479R |
probably damaging |
Het |
| Aqp8 |
C |
A |
7: 123,063,419 (GRCm39) |
H90N |
probably damaging |
Het |
| Arih1 |
A |
T |
9: 59,333,452 (GRCm39) |
C229S |
probably damaging |
Het |
| Col6a6 |
C |
A |
9: 105,644,398 (GRCm39) |
|
probably null |
Het |
| Cp |
A |
G |
3: 20,020,511 (GRCm39) |
E168G |
probably benign |
Het |
| Creb5 |
C |
T |
6: 53,581,443 (GRCm39) |
|
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,617 (GRCm39) |
Y42* |
probably null |
Het |
| Cyp2c66 |
C |
A |
19: 39,159,519 (GRCm39) |
|
probably benign |
Het |
| Dcpp2 |
C |
A |
17: 24,119,609 (GRCm39) |
A141D |
possibly damaging |
Het |
| Dnah5 |
A |
G |
15: 28,397,270 (GRCm39) |
D3321G |
probably damaging |
Het |
| Ecsit |
T |
C |
9: 21,989,440 (GRCm39) |
|
probably benign |
Het |
| Gabra1 |
T |
C |
11: 42,026,402 (GRCm39) |
I297V |
probably damaging |
Het |
| Gm16686 |
A |
T |
4: 88,673,739 (GRCm39) |
L30Q |
probably null |
Het |
| Hbp1 |
T |
C |
12: 31,980,674 (GRCm39) |
|
probably benign |
Het |
| Inhbc |
T |
C |
10: 127,205,971 (GRCm39) |
I99V |
probably benign |
Het |
| Kcne3 |
T |
A |
7: 99,833,697 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
C |
11: 57,947,881 (GRCm39) |
Y926H |
probably damaging |
Het |
| Lhfpl5 |
G |
T |
17: 28,795,149 (GRCm39) |
A59S |
possibly damaging |
Het |
| Mov10 |
T |
A |
3: 104,702,634 (GRCm39) |
|
probably benign |
Het |
| Myl12b |
A |
T |
17: 71,284,164 (GRCm39) |
N21K |
possibly damaging |
Het |
| Ncoa7 |
A |
T |
10: 30,538,360 (GRCm39) |
V675E |
probably damaging |
Het |
| Nt5c1b |
T |
C |
12: 10,425,444 (GRCm39) |
I255T |
probably damaging |
Het |
| Numa1 |
T |
A |
7: 101,661,083 (GRCm39) |
|
probably benign |
Het |
| Or13c3 |
T |
A |
4: 52,856,144 (GRCm39) |
Y123F |
probably damaging |
Het |
| Otop2 |
A |
T |
11: 115,217,806 (GRCm39) |
D214V |
possibly damaging |
Het |
| Plec |
C |
A |
15: 76,057,748 (GRCm39) |
G3928V |
probably damaging |
Het |
| Prkcz |
T |
C |
4: 155,356,047 (GRCm39) |
E176G |
probably damaging |
Het |
| Qdpr |
G |
A |
5: 45,592,018 (GRCm39) |
T106I |
possibly damaging |
Het |
| R3hdm2 |
T |
G |
10: 127,319,978 (GRCm39) |
M481R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Skic2 |
C |
T |
17: 35,060,092 (GRCm39) |
V145M |
probably damaging |
Het |
| Slx4ip |
T |
A |
2: 136,842,120 (GRCm39) |
V15D |
probably damaging |
Het |
| Stat4 |
T |
C |
1: 52,142,024 (GRCm39) |
S624P |
probably damaging |
Het |
| Tecpr2 |
T |
A |
12: 110,935,321 (GRCm39) |
L1380Q |
probably damaging |
Het |
| Traf2 |
T |
C |
2: 25,415,004 (GRCm39) |
I286V |
possibly damaging |
Het |
| Vmn2r30 |
T |
C |
7: 7,340,408 (GRCm39) |
I29V |
possibly damaging |
Het |
| Wdr43 |
A |
G |
17: 71,959,843 (GRCm39) |
Q561R |
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,403,150 (GRCm39) |
F535L |
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 |
|
|
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 |
|
R4090:Gja8
|
UTSW |
3 |
96,826,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation