Incidental Mutation 'R1142:Gjb3'
| ID |
102151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjb3
|
| Ensembl Gene |
ENSMUSG00000042367 |
| Gene Name |
gap junction protein, beta 3 |
| Synonyms |
Gjb-3, D4Wsu144e, Cx31, connexin 31, Cnx31 |
| MMRRC Submission |
039215-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1142 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
127219028-127224633 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127220224 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Tryptophan
at position 103
(R103W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046532]
[ENSMUST00000106091]
|
| AlphaFold |
P28231 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046532
AA Change: R103W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046755
Gene: ENSMUSG00000042367
AA Change: R103W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
3.47e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
209 |
3.05e-33 |
SMART |
|
low complexity region
|
219 |
237 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000106091
AA Change: R103W
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000101697
Gene: ENSMUSG00000042367
AA Change: R103W
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
3.47e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
209 |
3.05e-33 |
SMART |
|
low complexity region
|
219 |
237 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the connexin gene family. The encoded protein is a component of gap junctions, which are composed of arrays of intercellular channels that provide a route for the diffusion of low molecular weight materials from cell to cell. Mutations in this gene can cause non-syndromic deafness or erythrokeratodermia variabilis, a skin disorder. Alternative splicing results in multiple transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice exhibit partial lethality and transient placental dysmorphogenesis but no impairment in hearing or skin differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh18a1 |
A |
G |
19: 40,539,657 (GRCm39) |
S773P |
probably damaging |
Het |
| Alx3 |
T |
C |
3: 107,507,980 (GRCm39) |
F163S |
possibly damaging |
Het |
| Apobr |
A |
G |
7: 126,186,654 (GRCm39) |
M722V |
probably benign |
Het |
| Col6a5 |
A |
G |
9: 105,811,516 (GRCm39) |
S668P |
unknown |
Het |
| Cxadr |
A |
G |
16: 78,131,727 (GRCm39) |
T238A |
probably benign |
Het |
| Dph6 |
A |
G |
2: 114,478,260 (GRCm39) |
I27T |
probably damaging |
Het |
| Ephx3 |
G |
A |
17: 32,404,248 (GRCm39) |
H324Y |
probably benign |
Het |
| F830045P16Rik |
T |
A |
2: 129,302,252 (GRCm39) |
K447* |
probably null |
Het |
| Hsp90ab1 |
C |
A |
17: 45,879,900 (GRCm39) |
E539* |
probably null |
Het |
| Jmjd1c |
T |
C |
10: 67,061,124 (GRCm39) |
L1159P |
probably damaging |
Het |
| Lamc3 |
T |
C |
2: 31,830,733 (GRCm39) |
I1490T |
probably damaging |
Het |
| Met |
T |
A |
6: 17,527,182 (GRCm39) |
C544* |
probably null |
Het |
| Pdlim3 |
C |
A |
8: 46,371,998 (GRCm39) |
R348S |
probably damaging |
Het |
| Phkg1 |
A |
G |
5: 129,902,073 (GRCm39) |
F101L |
possibly damaging |
Het |
| Polq |
A |
G |
16: 36,833,579 (GRCm39) |
M91V |
probably damaging |
Het |
| Slc38a9 |
T |
C |
13: 112,850,744 (GRCm39) |
I376T |
probably damaging |
Het |
| Tnc |
C |
T |
4: 63,932,231 (GRCm39) |
V728M |
probably damaging |
Het |
| Vmn1r85 |
T |
C |
7: 12,818,481 (GRCm39) |
N221S |
probably benign |
Het |
| Vmn2r91 |
T |
A |
17: 18,356,705 (GRCm39) |
W791R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,553,424 (GRCm39) |
Y284H |
probably benign |
Het |
|
| Other mutations in Gjb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01517:Gjb3
|
APN |
4 |
127,219,914 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02398:Gjb3
|
APN |
4 |
127,219,855 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Gjb3
|
APN |
4 |
127,220,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02680:Gjb3
|
APN |
4 |
127,219,815 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0118:Gjb3
|
UTSW |
4 |
127,220,451 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0481:Gjb3
|
UTSW |
4 |
127,220,125 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1250:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1279:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1280:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1281:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1282:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1322:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1324:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1325:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1341:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1382:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1834:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1836:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4650:Gjb3
|
UTSW |
4 |
127,220,484 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5026:Gjb3
|
UTSW |
4 |
127,220,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6310:Gjb3
|
UTSW |
4 |
127,220,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6357:Gjb3
|
UTSW |
4 |
127,220,423 (GRCm39) |
nonsense |
probably null |
|
|
R9092:Gjb3
|
UTSW |
4 |
127,220,471 (GRCm39) |
frame shift |
probably null |
|
|
R9092:Gjb3
|
UTSW |
4 |
127,220,458 (GRCm39) |
frame shift |
probably null |
|
|
R9093:Gjb3
|
UTSW |
4 |
127,220,458 (GRCm39) |
frame shift |
probably null |
|
|
R9094:Gjb3
|
UTSW |
4 |
127,220,458 (GRCm39) |
frame shift |
probably null |
|
|
R9145:Gjb3
|
UTSW |
4 |
127,220,140 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Gjb3
|
UTSW |
4 |
127,220,131 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation