Incidental Mutation 'R5532:Gja8'
| ID |
436210 |
| 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 |
043090-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5532 (G1)
|
| Quality Score |
150 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96820882-96833336 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 96827648 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 5
(S5G)
|
| 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: S5G
PolyPhen 2
Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000049532
Gene: ENSMUSG00000049908
AA Change: S5G
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
A |
6: 128,530,293 (GRCm39) |
|
probably null |
Het |
| Adsl |
C |
G |
15: 80,848,110 (GRCm39) |
P118A |
probably damaging |
Het |
| Ano6 |
C |
T |
15: 95,860,122 (GRCm39) |
P748L |
probably damaging |
Het |
| Arhgap10 |
A |
T |
8: 78,146,701 (GRCm39) |
N234K |
probably benign |
Het |
| Arhgap18 |
T |
A |
10: 26,722,104 (GRCm39) |
I25K |
possibly damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,481 (GRCm39) |
Y345C |
probably damaging |
Het |
| Ccdc146 |
A |
G |
5: 21,510,329 (GRCm39) |
V561A |
probably benign |
Het |
| Cenpv |
G |
A |
11: 62,418,398 (GRCm39) |
T185M |
probably damaging |
Het |
| Fat2 |
T |
A |
11: 55,153,163 (GRCm39) |
D3683V |
probably damaging |
Het |
| Galns |
T |
C |
8: 123,311,765 (GRCm39) |
D415G |
possibly damaging |
Het |
| Gatad2a |
G |
A |
8: 70,369,070 (GRCm39) |
T259M |
probably damaging |
Het |
| Ifi209 |
T |
C |
1: 173,466,542 (GRCm39) |
S125P |
probably damaging |
Het |
| Iigp1c |
A |
G |
18: 60,379,142 (GRCm39) |
I226V |
probably benign |
Het |
| Il12rb2 |
G |
A |
6: 67,269,246 (GRCm39) |
R856W |
probably damaging |
Het |
| Kcnq3 |
A |
T |
15: 65,869,622 (GRCm39) |
Y605* |
probably null |
Het |
| Klk1b16 |
T |
C |
7: 43,790,950 (GRCm39) |
S251P |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,453,779 (GRCm39) |
N890D |
probably damaging |
Het |
| Map4 |
T |
A |
9: 109,863,746 (GRCm39) |
S324T |
probably benign |
Het |
| Mmp28 |
T |
C |
11: 83,333,684 (GRCm39) |
D419G |
probably damaging |
Het |
| Mtnr1b |
A |
G |
9: 15,774,210 (GRCm39) |
L283P |
probably benign |
Het |
| Ndufb7 |
T |
A |
8: 84,298,063 (GRCm39) |
Y95N |
probably damaging |
Het |
| Nfrkb |
C |
T |
9: 31,309,075 (GRCm39) |
R280W |
probably damaging |
Het |
| Npc1l1 |
A |
G |
11: 6,174,245 (GRCm39) |
Y687H |
probably damaging |
Het |
| Or6f1 |
A |
C |
7: 85,970,879 (GRCm39) |
F94V |
possibly damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,923 (GRCm39) |
T277I |
probably benign |
Het |
| Or8g51 |
T |
C |
9: 38,608,943 (GRCm39) |
T240A |
probably damaging |
Het |
| Or8h9 |
T |
A |
2: 86,788,924 (GRCm39) |
R293* |
probably null |
Het |
| Pabpc4l |
T |
C |
3: 46,401,044 (GRCm39) |
D200G |
probably benign |
Het |
| Plekhg6 |
T |
C |
6: 125,349,514 (GRCm39) |
E361G |
possibly damaging |
Het |
| Pramel31 |
A |
T |
4: 144,090,061 (GRCm39) |
D367V |
probably damaging |
Het |
| Rictor |
A |
G |
15: 6,819,046 (GRCm39) |
Y1423C |
probably damaging |
Het |
| Rsf1 |
G |
A |
7: 97,329,902 (GRCm39) |
D1143N |
probably damaging |
Het |
| Spsb4 |
C |
T |
9: 96,877,627 (GRCm39) |
|
probably null |
Het |
| Strada |
G |
T |
11: 106,061,843 (GRCm39) |
A136E |
probably damaging |
Het |
| Syce2 |
A |
T |
8: 85,610,131 (GRCm39) |
Q73L |
probably damaging |
Het |
| Teddm2 |
A |
T |
1: 153,726,130 (GRCm39) |
V195D |
probably benign |
Het |
| Tex36 |
A |
T |
7: 133,203,712 (GRCm39) |
N12K |
probably benign |
Het |
| Ubtf |
A |
G |
11: 102,199,785 (GRCm39) |
S484P |
probably benign |
Het |
| Ufd1 |
T |
G |
16: 18,636,680 (GRCm39) |
L66R |
probably damaging |
Het |
| Vmn2r74 |
C |
T |
7: 85,601,197 (GRCm39) |
A814T |
probably benign |
Het |
| Vmn2r98 |
T |
C |
17: 19,287,645 (GRCm39) |
S493P |
possibly damaging |
Het |
| Xrcc1 |
T |
A |
7: 24,267,353 (GRCm39) |
|
probably null |
Het |
| Zfp277 |
A |
C |
12: 40,385,308 (GRCm39) |
C305G |
probably damaging |
Het |
| Zfp998 |
A |
T |
13: 66,579,740 (GRCm39) |
C248S |
probably 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 |
|
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 |
|
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'- AAAGGCCTCATCGTAGCAGAC -3'
(R):5'- ACACACTTTAAGAGCCCTTTCATC -3'
Sequencing Primer
(F):5'- GTAGCAGACATTCTCACAGCCTG -3'
(R):5'- CTCTTAGCACTAGTCGGCACAGATG -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation