Incidental Mutation 'IGL01517:Gjb3'
ID |
90436 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Gjb3
|
Ensembl Gene |
ENSMUSG00000042367 |
Gene Name |
gap junction protein, beta 3 |
Synonyms |
Gjb-3, D4Wsu144e, Cx31, connexin 31, Cnx31 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01517
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
127219028-127224633 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 127219914 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 206
(I206S)
|
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: I206S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000046755 Gene: ENSMUSG00000042367 AA Change: I206S
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: I206S
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101697 Gene: ENSMUSG00000042367 AA Change: I206S
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 |
|
Coding Region Coverage |
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts6 |
A |
T |
13: 104,526,700 (GRCm39) |
|
probably benign |
Het |
Arpc1b |
A |
G |
5: 145,064,679 (GRCm39) |
|
probably benign |
Het |
Ccdc54 |
G |
A |
16: 50,410,280 (GRCm39) |
L329F |
possibly damaging |
Het |
Cdc42bpg |
G |
A |
19: 6,368,467 (GRCm39) |
R1055H |
probably damaging |
Het |
Cylc1 |
A |
G |
X: 110,162,799 (GRCm39) |
T29A |
possibly damaging |
Het |
Ddx50 |
T |
C |
10: 62,482,911 (GRCm39) |
T53A |
probably benign |
Het |
Dmap1 |
G |
A |
4: 117,533,206 (GRCm39) |
R283C |
probably damaging |
Het |
Extl3 |
A |
T |
14: 65,314,156 (GRCm39) |
L342H |
probably damaging |
Het |
Gphn |
T |
A |
12: 78,423,148 (GRCm39) |
I53K |
probably damaging |
Het |
Gpr22 |
C |
T |
12: 31,758,709 (GRCm39) |
|
probably benign |
Het |
Inpp5b |
T |
A |
4: 124,676,229 (GRCm39) |
C362S |
probably benign |
Het |
Iqgap3 |
C |
A |
3: 88,016,703 (GRCm39) |
Q1062K |
probably benign |
Het |
Kdm2a |
A |
G |
19: 4,412,089 (GRCm39) |
|
probably benign |
Het |
Ltbp3 |
A |
G |
19: 5,807,760 (GRCm39) |
D1167G |
possibly damaging |
Het |
Mpo |
A |
G |
11: 87,686,647 (GRCm39) |
N65D |
possibly damaging |
Het |
Mrpl2 |
A |
G |
17: 46,960,909 (GRCm39) |
R268G |
probably damaging |
Het |
Nfkbia |
C |
T |
12: 55,537,430 (GRCm39) |
A220T |
probably damaging |
Het |
Nlrc3 |
T |
A |
16: 3,765,351 (GRCm39) |
I1091F |
probably damaging |
Het |
Notch2 |
T |
A |
3: 98,045,971 (GRCm39) |
S1674R |
probably benign |
Het |
Or10h28 |
T |
A |
17: 33,488,629 (GRCm39) |
N310K |
probably benign |
Het |
Or14a257 |
T |
C |
7: 86,138,765 (GRCm39) |
|
probably benign |
Het |
Pde8b |
A |
G |
13: 95,237,395 (GRCm39) |
|
probably null |
Het |
Pla2r1 |
A |
G |
2: 60,334,597 (GRCm39) |
Y392H |
probably damaging |
Het |
Plekhm1 |
A |
T |
11: 103,285,609 (GRCm39) |
N275K |
possibly damaging |
Het |
Prdm16 |
T |
C |
4: 154,412,882 (GRCm39) |
H1041R |
probably damaging |
Het |
Rapsn |
C |
A |
2: 90,866,963 (GRCm39) |
N88K |
probably damaging |
Het |
Rasef |
T |
A |
4: 73,688,059 (GRCm39) |
Q31H |
probably benign |
Het |
Rpl28-ps4 |
T |
C |
6: 117,190,813 (GRCm39) |
|
noncoding transcript |
Het |
Trpc7 |
T |
C |
13: 57,008,878 (GRCm39) |
Y263C |
probably damaging |
Het |
Ttn |
T |
C |
2: 76,577,940 (GRCm39) |
T24318A |
probably damaging |
Het |
Vmn1r35 |
T |
C |
6: 66,656,434 (GRCm39) |
T79A |
probably benign |
Het |
Vmn2r100 |
T |
A |
17: 19,742,225 (GRCm39) |
S200T |
probably benign |
Het |
Wnt9b |
A |
G |
11: 103,621,907 (GRCm39) |
V250A |
probably benign |
Het |
Zyg11a |
T |
A |
4: 108,058,391 (GRCm39) |
K383M |
probably null |
Het |
|
Other mutations in Gjb3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2013-12-09 |