Incidental Mutation 'R1280:Gjb3'
ID |
150997 |
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 |
039346-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1280 (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: 99.0%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.1%
|
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 |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Atp5mc3 |
G |
T |
2: 73,739,714 (GRCm39) |
T42K |
possibly damaging |
Het |
Brd2 |
T |
C |
17: 34,333,124 (GRCm39) |
M60V |
possibly damaging |
Het |
Cabp1 |
T |
C |
5: 115,313,530 (GRCm39) |
N226S |
probably benign |
Het |
Cers6 |
G |
A |
2: 68,899,033 (GRCm39) |
V224I |
probably benign |
Het |
Entpd2 |
C |
T |
2: 25,289,496 (GRCm39) |
S326F |
probably damaging |
Het |
Fez1 |
GACAAACA |
GACA |
9: 36,781,845 (GRCm39) |
|
probably null |
Het |
Klhdc7a |
G |
A |
4: 139,692,764 (GRCm39) |
R728C |
probably benign |
Het |
Myo18b |
A |
G |
5: 112,871,671 (GRCm39) |
|
probably null |
Het |
Mzf1 |
A |
T |
7: 12,787,010 (GRCm39) |
L20Q |
probably damaging |
Het |
Neil1 |
T |
C |
9: 57,054,185 (GRCm39) |
Y45C |
probably damaging |
Het |
Or2ad1 |
C |
T |
13: 21,326,337 (GRCm39) |
V297I |
probably benign |
Het |
Rbm12 |
T |
C |
2: 155,938,749 (GRCm39) |
K508E |
probably damaging |
Het |
Socs4 |
A |
T |
14: 47,528,370 (GRCm39) |
Q435L |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 112,005,842 (GRCm39) |
V905A |
probably damaging |
Het |
Tekt4 |
T |
A |
17: 25,690,861 (GRCm39) |
W56R |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,608,508 (GRCm39) |
I16059N |
possibly damaging |
Het |
Ubqln3 |
A |
G |
7: 103,791,283 (GRCm39) |
V269A |
possibly damaging |
Het |
Vps54 |
T |
A |
11: 21,227,868 (GRCm39) |
I273N |
possibly damaging |
Het |
Zfp831 |
A |
G |
2: 174,545,852 (GRCm39) |
K1319R |
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 |
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 |
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 |
PCR Primer
(F):5'- ATGTAGCAATCCACGGTGTTGGGG -3'
(R):5'- CGCATCTGGCTGTCAGTAGTGTTC -3'
Sequencing Primer
(F):5'- TGGCGCACTGTACCAGAC -3'
(R):5'- TCAGTAGTGTTCGTCTTCCG -3'
|
Posted On |
2014-01-29 |