Incidental Mutation 'IGL03204:Gja8'
| ID |
413091 |
| 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 # |
IGL03204
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
96820882-96833336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96827408 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 85
(V85I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000049532
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062944]
[ENSMUST00000199597]
|
| AlphaFold |
P28236 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000062944
AA Change: V85I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: V85I
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd14a |
A |
T |
9: 106,317,834 (GRCm39) |
F191I |
probably damaging |
Het |
| Actc1 |
A |
T |
2: 113,880,011 (GRCm39) |
S201T |
possibly damaging |
Het |
| Ankrd36 |
T |
A |
11: 5,534,023 (GRCm39) |
D291E |
possibly damaging |
Het |
| Bltp1 |
A |
G |
3: 37,105,083 (GRCm39) |
|
probably benign |
Het |
| Btbd7 |
T |
A |
12: 102,774,239 (GRCm39) |
R510* |
probably null |
Het |
| Cfap20dc |
A |
G |
14: 8,644,436 (GRCm38) |
I80T |
possibly damaging |
Het |
| Eif4a3 |
A |
T |
11: 119,184,442 (GRCm39) |
D249E |
possibly damaging |
Het |
| Elovl6 |
A |
G |
3: 129,426,993 (GRCm39) |
M220V |
probably benign |
Het |
| Ets1 |
C |
T |
9: 32,644,308 (GRCm39) |
S156L |
possibly damaging |
Het |
| Glipr2 |
T |
A |
4: 43,970,507 (GRCm39) |
D7E |
probably benign |
Het |
| Il22 |
C |
T |
10: 118,041,085 (GRCm39) |
|
probably benign |
Het |
| Itln1 |
A |
G |
1: 171,358,172 (GRCm39) |
V80A |
probably damaging |
Het |
| Kdr |
A |
T |
5: 76,133,042 (GRCm39) |
C79S |
possibly damaging |
Het |
| Kif26a |
A |
T |
12: 112,141,213 (GRCm39) |
H672L |
probably damaging |
Het |
| Klhl40 |
A |
T |
9: 121,611,696 (GRCm39) |
T570S |
probably benign |
Het |
| Macf1 |
A |
G |
4: 123,249,070 (GRCm39) |
|
probably benign |
Het |
| Magi3 |
T |
A |
3: 104,013,151 (GRCm39) |
N112I |
probably damaging |
Het |
| Moxd2 |
T |
C |
6: 40,864,239 (GRCm39) |
T64A |
probably benign |
Het |
| Myh4 |
T |
C |
11: 67,141,122 (GRCm39) |
V728A |
possibly damaging |
Het |
| Or8u10 |
G |
T |
2: 85,916,015 (GRCm39) |
Y35* |
probably null |
Het |
| Prkdc |
A |
G |
16: 15,587,665 (GRCm39) |
I2517V |
probably benign |
Het |
| Ralgapb |
A |
G |
2: 158,307,832 (GRCm39) |
I1047V |
possibly damaging |
Het |
| Smg9 |
A |
G |
7: 24,120,337 (GRCm39) |
E437G |
probably benign |
Het |
| Snx4 |
A |
G |
16: 33,090,039 (GRCm39) |
K188R |
probably benign |
Het |
| Sox14 |
A |
G |
9: 99,757,110 (GRCm39) |
S210P |
probably benign |
Het |
| Spata1 |
A |
G |
3: 146,194,434 (GRCm39) |
F77L |
probably benign |
Het |
| Spata18 |
G |
T |
5: 73,828,449 (GRCm39) |
|
probably benign |
Het |
| Stard9 |
G |
A |
2: 120,536,283 (GRCm39) |
D4151N |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,212,002 (GRCm39) |
H356R |
probably benign |
Het |
| Zfp462 |
A |
G |
4: 55,080,785 (GRCm39) |
D1380G |
possibly damaging |
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 |
|
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 |
2016-08-02 |
Incidental Mutation