Incidental Mutation 'R1341:Gjb3'
| ID |
157033 |
| 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 |
039406-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1341 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 98.9%
- 3x: 98.0%
- 10x: 95.1%
- 20x: 88.9%
|
| Validation Efficiency |
96% (53/55) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp6v0e2 |
A |
G |
6: 48,517,045 (GRCm39) |
Y75C |
probably benign |
Het |
| Bltp3a |
T |
C |
17: 28,096,393 (GRCm39) |
|
probably benign |
Het |
| Cacna1g |
A |
G |
11: 94,324,582 (GRCm39) |
L1190P |
probably damaging |
Het |
| Ccdc190 |
A |
G |
1: 169,757,586 (GRCm39) |
D15G |
probably damaging |
Het |
| Cep126 |
G |
T |
9: 8,099,777 (GRCm39) |
P919Q |
possibly damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,131 (GRCm39) |
T665S |
probably damaging |
Het |
| Chchd6 |
A |
G |
6: 89,361,623 (GRCm39) |
V260A |
probably benign |
Het |
| Col1a2 |
G |
A |
6: 4,518,822 (GRCm39) |
|
probably benign |
Het |
| Cramp1 |
T |
C |
17: 25,196,514 (GRCm39) |
K867E |
probably damaging |
Het |
| Dnah6 |
A |
T |
6: 73,168,602 (GRCm39) |
N440K |
probably benign |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm17421 |
A |
T |
12: 113,333,334 (GRCm39) |
|
noncoding transcript |
Het |
| H2bc13 |
T |
C |
13: 21,900,280 (GRCm39) |
K12E |
probably benign |
Het |
| Hdac3 |
A |
G |
18: 38,087,766 (GRCm39) |
V36A |
probably damaging |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Itga10 |
G |
A |
3: 96,559,811 (GRCm39) |
E489K |
probably damaging |
Het |
| Mgat5b |
A |
C |
11: 116,869,223 (GRCm39) |
I589L |
probably benign |
Het |
| Mindy4 |
A |
G |
6: 55,232,601 (GRCm39) |
N348S |
probably benign |
Het |
| Mmp15 |
A |
G |
8: 96,098,931 (GRCm39) |
D586G |
probably benign |
Het |
| Mmp9 |
A |
G |
2: 164,791,247 (GRCm39) |
D139G |
probably damaging |
Het |
| Morc2a |
C |
A |
11: 3,630,216 (GRCm39) |
L471I |
possibly damaging |
Het |
| Mycbp2 |
T |
A |
14: 103,536,303 (GRCm39) |
|
probably benign |
Het |
| Mylip |
T |
A |
13: 45,559,412 (GRCm39) |
S105T |
probably damaging |
Het |
| Nat8f4 |
A |
T |
6: 85,878,406 (GRCm39) |
L39Q |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,920,198 (GRCm39) |
|
probably benign |
Het |
| Or10ak13 |
T |
C |
4: 118,639,579 (GRCm39) |
T68A |
probably benign |
Het |
| Or11m3 |
G |
A |
15: 98,396,135 (GRCm39) |
V261M |
possibly damaging |
Het |
| Or51k2 |
T |
A |
7: 103,596,589 (GRCm39) |
V272D |
possibly damaging |
Het |
| Or5t7 |
T |
C |
2: 86,507,507 (GRCm39) |
M57V |
possibly damaging |
Het |
| Or9k2 |
G |
T |
10: 129,999,185 (GRCm39) |
D3E |
probably benign |
Het |
| Pramel29 |
T |
C |
4: 143,934,129 (GRCm39) |
D326G |
probably damaging |
Het |
| Prl2c2 |
G |
C |
13: 13,176,786 (GRCm39) |
T47R |
probably damaging |
Het |
| Rab11fip1 |
G |
T |
8: 27,633,388 (GRCm39) |
A1106E |
probably damaging |
Het |
| Rfc1 |
A |
G |
5: 65,448,537 (GRCm39) |
S363P |
probably damaging |
Het |
| Skint10 |
A |
G |
4: 112,622,228 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,196,711 (GRCm39) |
N3595D |
possibly damaging |
Het |
| Swsap1 |
A |
G |
9: 21,868,450 (GRCm39) |
K241E |
probably benign |
Het |
| Tab1 |
A |
G |
15: 80,044,315 (GRCm39) |
T448A |
possibly damaging |
Het |
| Tktl1 |
G |
T |
X: 73,241,289 (GRCm39) |
G302V |
probably damaging |
Het |
| Usp25 |
A |
G |
16: 76,912,331 (GRCm39) |
T1017A |
probably benign |
Het |
| Vmn2r78 |
T |
A |
7: 86,571,477 (GRCm39) |
M429K |
possibly damaging |
Het |
| Wdr49 |
A |
T |
3: 75,336,640 (GRCm39) |
F356I |
probably damaging |
Het |
| Wnt1 |
T |
C |
15: 98,689,764 (GRCm39) |
F184L |
probably damaging |
Het |
| Yy1 |
T |
C |
12: 108,759,445 (GRCm39) |
I36T |
unknown |
Het |
| Zbtb39 |
A |
G |
10: 127,579,369 (GRCm39) |
I648V |
possibly damaging |
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 |
|
R1142:Gjb3
|
UTSW |
4 |
127,220,224 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
PCR Primer
(F):5'- ATGTAGCAATCCACGGTGTTGGGG -3'
(R):5'- CGCATCTGGCTGTCAGTAGTGTTC -3'
Sequencing Primer
(F):5'- TGGCGCACTGTACCAGAC -3'
(R):5'- TCAGTAGTGTTCGTCTTCCG -3'
|
| Posted On |
2014-02-11 |
Incidental Mutation