Incidental Mutation 'R1282:Gjb3'
ID |
151051 |
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 |
039348-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1282 (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: 93.1%
|
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: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acmsd |
T |
C |
1: 127,666,297 (GRCm39) |
Y23H |
probably damaging |
Het |
Alkbh2 |
C |
T |
5: 114,262,287 (GRCm39) |
E148K |
probably damaging |
Het |
Atp2a2 |
G |
T |
5: 122,629,817 (GRCm39) |
T84K |
probably benign |
Het |
Cfap65 |
T |
A |
1: 74,964,263 (GRCm39) |
T562S |
probably benign |
Het |
Cyp2b10 |
G |
A |
7: 25,625,505 (GRCm39) |
C436Y |
probably damaging |
Het |
Dnajc7 |
T |
C |
11: 100,475,467 (GRCm39) |
D381G |
probably damaging |
Het |
Dnase1l3 |
T |
C |
14: 7,983,117 (GRCm38) |
D129G |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,223,826 (GRCm39) |
T1126A |
probably benign |
Het |
Exoc3 |
T |
C |
13: 74,330,411 (GRCm39) |
N506S |
probably benign |
Het |
Fastkd3 |
C |
A |
13: 68,732,676 (GRCm39) |
N332K |
possibly damaging |
Het |
Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
Foxp4 |
G |
A |
17: 48,186,568 (GRCm39) |
P404S |
unknown |
Het |
Gm12789 |
T |
A |
4: 101,845,487 (GRCm39) |
W59R |
probably damaging |
Het |
Greb1l |
T |
A |
18: 10,547,289 (GRCm39) |
N1502K |
probably benign |
Het |
H2-K2 |
A |
C |
17: 34,218,421 (GRCm39) |
I165S |
probably damaging |
Het |
Ipo9 |
A |
G |
1: 135,330,030 (GRCm39) |
I470T |
possibly damaging |
Het |
Kcnu1 |
A |
T |
8: 26,395,985 (GRCm39) |
I657F |
probably benign |
Het |
Lrp1b |
A |
T |
2: 40,750,773 (GRCm39) |
N2930K |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,792,859 (GRCm39) |
I220F |
probably benign |
Het |
Prag1 |
T |
C |
8: 36,567,068 (GRCm39) |
V73A |
probably damaging |
Het |
Prrc2b |
T |
C |
2: 32,113,456 (GRCm39) |
I1963T |
probably damaging |
Het |
Rep15 |
C |
T |
6: 146,934,727 (GRCm39) |
R189* |
probably null |
Het |
Resf1 |
C |
T |
6: 149,230,670 (GRCm39) |
Q1239* |
probably null |
Het |
Rtp3 |
T |
C |
9: 110,815,988 (GRCm39) |
K188E |
probably benign |
Het |
Scd2 |
T |
C |
19: 44,283,620 (GRCm39) |
L101P |
probably damaging |
Het |
Scn7a |
A |
T |
2: 66,531,193 (GRCm39) |
H561Q |
probably damaging |
Het |
Sfr1 |
T |
C |
19: 47,721,407 (GRCm39) |
S118P |
probably damaging |
Het |
Slf1 |
C |
T |
13: 77,191,959 (GRCm39) |
M958I |
probably damaging |
Het |
Snrk |
G |
T |
9: 121,989,586 (GRCm39) |
R310L |
possibly damaging |
Het |
Snx11 |
T |
C |
11: 96,663,987 (GRCm39) |
Y35C |
probably damaging |
Het |
Supt6 |
T |
C |
11: 78,119,594 (GRCm39) |
T404A |
possibly damaging |
Het |
Svep1 |
C |
A |
4: 58,100,032 (GRCm39) |
L1337F |
possibly damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,502,401 (GRCm39) |
T183M |
probably damaging |
Het |
Vmn2r28 |
A |
T |
7: 5,484,301 (GRCm39) |
M633K |
probably damaging |
Het |
Vmn2r67 |
A |
G |
7: 84,785,932 (GRCm39) |
V691A |
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 |
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 |
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 |