Incidental Mutation 'R1324:Gjb3'
| ID |
157156 |
| 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 |
039390-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1324 (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: 98.3%
- 10x: 96.4%
- 20x: 93.2%
|
| 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: 17 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap10 |
T |
A |
11: 61,805,847 (GRCm39) |
|
probably null |
Het |
| Col11a1 |
A |
G |
3: 113,824,565 (GRCm39) |
R6G |
unknown |
Het |
| Enam |
A |
T |
5: 88,641,927 (GRCm39) |
Y172F |
possibly damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Kif21a |
A |
T |
15: 90,832,525 (GRCm39) |
|
probably null |
Het |
| Lmnb2 |
T |
C |
10: 80,740,005 (GRCm39) |
I330V |
possibly damaging |
Het |
| Myom1 |
T |
A |
17: 71,359,714 (GRCm39) |
I462N |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,774,860 (GRCm39) |
A192V |
probably damaging |
Het |
| Nrbp1 |
T |
A |
5: 31,403,157 (GRCm39) |
I210N |
probably damaging |
Het |
| Nrxn3 |
T |
C |
12: 89,221,466 (GRCm39) |
I42T |
possibly damaging |
Het |
| Pheta2 |
A |
G |
15: 82,227,699 (GRCm39) |
T73A |
probably damaging |
Het |
| Rnf141 |
G |
A |
7: 110,416,050 (GRCm39) |
R184* |
probably null |
Het |
| Serpinb6a |
A |
T |
13: 34,102,343 (GRCm39) |
L273H |
probably damaging |
Het |
| Thoc6 |
G |
T |
17: 23,896,437 (GRCm39) |
|
probably null |
Het |
| Tmem39a |
T |
A |
16: 38,393,531 (GRCm39) |
F77I |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,611,930 (GRCm39) |
D15578G |
probably damaging |
Het |
| Usp25 |
T |
A |
16: 76,877,275 (GRCm39) |
M587K |
probably 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 |
|
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 |
2014-02-18 |
Incidental Mutation