Incidental Mutation 'R2926:Gja8'
| ID |
255741 |
| 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 |
040511-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2926 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
96820882-96833336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 96826469 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 398
(V398I)
|
| 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: V398I
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: V398I
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.3%
|
| Validation Efficiency |
98% (50/51) |
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb9 |
G |
T |
5: 124,216,902 (GRCm39) |
S438R |
possibly damaging |
Het |
| Add3 |
A |
G |
19: 53,215,253 (GRCm39) |
|
probably null |
Het |
| Adgrb2 |
T |
C |
4: 129,902,137 (GRCm39) |
L506P |
probably damaging |
Het |
| Atp6v0a1 |
A |
T |
11: 100,934,774 (GRCm39) |
I621L |
probably damaging |
Het |
| Calb1 |
T |
G |
4: 15,904,302 (GRCm39) |
L218R |
probably damaging |
Het |
| Ccdc162 |
G |
A |
10: 41,437,203 (GRCm39) |
|
probably benign |
Het |
| Ccser2 |
A |
T |
14: 36,601,518 (GRCm39) |
S842T |
possibly damaging |
Het |
| Cd300a |
A |
G |
11: 114,784,139 (GRCm39) |
E49G |
possibly damaging |
Het |
| Colec11 |
T |
A |
12: 28,667,428 (GRCm39) |
Q37L |
probably damaging |
Het |
| D630045J12Rik |
T |
A |
6: 38,145,106 (GRCm39) |
I1307F |
probably damaging |
Het |
| Dapk1 |
T |
C |
13: 60,867,564 (GRCm39) |
V257A |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,550,338 (GRCm39) |
N3327I |
probably damaging |
Het |
| Hfm1 |
A |
T |
5: 107,022,148 (GRCm39) |
L179* |
probably null |
Het |
| Hsd3b9 |
A |
G |
3: 98,357,872 (GRCm39) |
|
probably benign |
Het |
| Ift88 |
T |
C |
14: 57,726,375 (GRCm39) |
Y678H |
probably damaging |
Het |
| Itga10 |
A |
G |
3: 96,560,165 (GRCm39) |
N560D |
probably damaging |
Het |
| Itpk1 |
G |
T |
12: 102,545,389 (GRCm39) |
P238Q |
probably damaging |
Het |
| Kl |
T |
C |
5: 150,876,806 (GRCm39) |
W209R |
probably damaging |
Het |
| Lama4 |
A |
G |
10: 38,954,828 (GRCm39) |
N1127S |
probably benign |
Het |
| Lrp1 |
C |
T |
10: 127,423,982 (GRCm39) |
C830Y |
probably damaging |
Het |
| Mcmbp |
G |
A |
7: 128,299,738 (GRCm39) |
|
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,438 (GRCm39) |
S28P |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,786,981 (GRCm39) |
R721Q |
probably benign |
Het |
| Myt1 |
C |
T |
2: 181,467,803 (GRCm39) |
T1079M |
possibly damaging |
Het |
| N4bp1 |
A |
T |
8: 87,588,424 (GRCm39) |
Y171* |
probably null |
Het |
| Ncln |
G |
T |
10: 81,324,272 (GRCm39) |
T442K |
probably benign |
Het |
| Nphp4 |
T |
C |
4: 152,602,596 (GRCm39) |
V390A |
probably damaging |
Het |
| Ntrk2 |
C |
A |
13: 59,208,098 (GRCm39) |
T648K |
probably damaging |
Het |
| Nwd1 |
A |
G |
8: 73,393,640 (GRCm39) |
H301R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,893 (GRCm39) |
V146E |
probably benign |
Het |
| Pcdh12 |
T |
C |
18: 38,415,443 (GRCm39) |
N561D |
probably damaging |
Het |
| Pcnx1 |
T |
A |
12: 82,041,769 (GRCm39) |
S2134T |
probably damaging |
Het |
| Ppp1cc |
G |
A |
5: 122,312,151 (GRCm39) |
A306T |
probably benign |
Het |
| Pramel3e |
G |
T |
X: 134,400,297 (GRCm39) |
A96S |
possibly damaging |
Het |
| Prrc2c |
C |
T |
1: 162,533,696 (GRCm39) |
|
probably benign |
Het |
| Rabggta |
C |
T |
14: 55,956,747 (GRCm39) |
R319H |
probably benign |
Het |
| Scn10a |
A |
C |
9: 119,467,767 (GRCm39) |
F791C |
possibly damaging |
Het |
| Stab1 |
T |
A |
14: 30,883,756 (GRCm39) |
D267V |
probably damaging |
Het |
| Sva |
A |
T |
6: 42,019,596 (GRCm39) |
Y152F |
possibly damaging |
Het |
| Tgfbrap1 |
T |
G |
1: 43,114,789 (GRCm39) |
M104L |
probably damaging |
Het |
| Tmed4 |
T |
C |
11: 6,221,728 (GRCm39) |
T203A |
probably benign |
Het |
| Toe1 |
C |
T |
4: 116,662,177 (GRCm39) |
A331T |
possibly damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trpm7 |
T |
C |
2: 126,700,329 (GRCm39) |
|
probably benign |
Het |
| Ttll7 |
C |
T |
3: 146,636,170 (GRCm39) |
R438* |
probably null |
Het |
| Usp11 |
G |
T |
X: 20,584,031 (GRCm39) |
G601W |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,833,984 (GRCm39) |
T551A |
possibly damaging |
Het |
| Vmn2r73 |
T |
C |
7: 85,520,871 (GRCm39) |
K366E |
probably benign |
Het |
| Vps33a |
A |
G |
5: 123,707,634 (GRCm39) |
I111T |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTATATTGGCACCAGCTGGG -3'
(R):5'- CCTTCTTATGCTCAGGTGGG -3'
Sequencing Primer
(F):5'- CCAGCTGGGTTTATCTTGGTC -3'
(R):5'- ATGCTCAGGTGGGGGTCC -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation