Incidental Mutation 'IGL00922:Gjb4'
| ID |
27243 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gjb4
|
| Ensembl Gene |
ENSMUSG00000046623 |
| Gene Name |
gap junction protein, beta 4 |
| Synonyms |
connexin 30.3, Cx30.3, Gjb-4 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00922
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
127244879-127247874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 127245146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 265
(Y265C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101696
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046498]
[ENSMUST00000060419]
[ENSMUST00000106090]
|
| AlphaFold |
Q02738 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046498
|
| SMART Domains |
Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
25 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
1.99e-19 |
SMART |
|
Connexin_CCC
|
139 |
206 |
1.42e-33 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060419
AA Change: Y265C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
AA Change: Y265C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
9.16e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
208 |
6.28e-35 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106090
AA Change: Y265C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
AA Change: Y265C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
38 |
N/A |
INTRINSIC |
|
CNX
|
42 |
75 |
9.16e-19 |
SMART |
|
low complexity region
|
98 |
103 |
N/A |
INTRINSIC |
|
Connexin_CCC
|
141 |
208 |
6.28e-35 |
SMART |
|
| 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 encodes a transmembrane connexin protein that is a component of gap junctions. Mutations in this gene have been associated with erythrokeratodermia variabilis, progressive symmetric erythrokeratoderma and hearing impairment. [provided by RefSeq, Dec 2009]
PHENOTYPE: Mice homozygous for a reporter allele display reduced behavioral responses to a vanilla scent, suggesting impaired olfaction. [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 |
|---|
| 2210016L21Rik |
T |
C |
5: 115,085,236 (GRCm39) |
|
probably null |
Het |
| Atr |
T |
A |
9: 95,789,398 (GRCm39) |
M1518K |
probably damaging |
Het |
| Baiap2l1 |
C |
T |
5: 144,255,777 (GRCm39) |
G59D |
probably damaging |
Het |
| BC051019 |
C |
A |
7: 109,319,883 (GRCm39) |
C60F |
probably benign |
Het |
| Brms1l |
A |
G |
12: 55,892,111 (GRCm39) |
Y135C |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,824,163 (GRCm39) |
S535T |
probably benign |
Het |
| Chkb |
C |
T |
15: 89,306,491 (GRCm39) |
|
probably null |
Het |
| Coa7 |
G |
T |
4: 108,195,505 (GRCm39) |
G145C |
possibly damaging |
Het |
| Cobl |
T |
A |
11: 12,204,866 (GRCm39) |
D605V |
probably damaging |
Het |
| Ddx54 |
T |
A |
5: 120,761,875 (GRCm39) |
|
probably null |
Het |
| Dnah6 |
A |
T |
6: 73,010,509 (GRCm39) |
|
probably benign |
Het |
| Dnaja2 |
A |
T |
8: 86,281,866 (GRCm39) |
V4E |
probably damaging |
Het |
| Dnajc22 |
T |
G |
15: 98,999,460 (GRCm39) |
L215R |
possibly damaging |
Het |
| Drc7 |
G |
A |
8: 95,804,606 (GRCm39) |
V874I |
probably benign |
Het |
| Foxa2 |
A |
C |
2: 147,886,738 (GRCm39) |
S26A |
possibly damaging |
Het |
| Gal |
A |
T |
19: 3,461,575 (GRCm39) |
V70E |
probably benign |
Het |
| Hc |
A |
G |
2: 34,881,680 (GRCm39) |
S1423P |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kash5 |
T |
C |
7: 44,834,730 (GRCm39) |
E532G |
possibly damaging |
Het |
| Map3k6 |
C |
T |
4: 132,970,355 (GRCm39) |
|
probably benign |
Het |
| Matn1 |
A |
T |
4: 130,680,285 (GRCm39) |
Q454L |
probably benign |
Het |
| Mlxip |
A |
T |
5: 123,578,128 (GRCm39) |
N148I |
probably damaging |
Het |
| Mre11a |
T |
C |
9: 14,710,884 (GRCm39) |
F193L |
probably damaging |
Het |
| Myo1h |
T |
C |
5: 114,498,546 (GRCm39) |
Y881H |
probably damaging |
Het |
| Nphp4 |
C |
T |
4: 152,621,766 (GRCm39) |
|
probably benign |
Het |
| Or6c3b |
T |
G |
10: 129,527,323 (GRCm39) |
I196L |
probably benign |
Het |
| Ptpn13 |
T |
A |
5: 103,735,954 (GRCm39) |
V2151D |
probably damaging |
Het |
| Rnf141 |
T |
C |
7: 110,432,941 (GRCm39) |
|
probably benign |
Het |
| Rpe65 |
A |
C |
3: 159,320,179 (GRCm39) |
D277A |
probably damaging |
Het |
| Sec14l1 |
C |
T |
11: 117,044,055 (GRCm39) |
T521M |
possibly damaging |
Het |
| Slc25a30 |
A |
T |
14: 76,007,038 (GRCm39) |
Y153N |
probably damaging |
Het |
| Slc6a12 |
C |
T |
6: 121,337,414 (GRCm39) |
A366V |
probably damaging |
Het |
| Trp53bp1 |
T |
A |
2: 121,038,963 (GRCm39) |
T1367S |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,267,901 (GRCm39) |
S118R |
probably benign |
Het |
|
| Other mutations in Gjb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01629:Gjb4
|
APN |
4 |
127,245,419 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
IGL03075:Gjb4
|
APN |
4 |
127,245,386 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
K3955:Gjb4
|
UTSW |
4 |
127,245,293 (GRCm39) |
missense |
probably benign |
0.06 |
|
P0038:Gjb4
|
UTSW |
4 |
127,245,293 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1710:Gjb4
|
UTSW |
4 |
127,245,663 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3824:Gjb4
|
UTSW |
4 |
127,245,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4664:Gjb4
|
UTSW |
4 |
127,245,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4666:Gjb4
|
UTSW |
4 |
127,245,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5955:Gjb4
|
UTSW |
4 |
127,245,745 (GRCm39) |
nonsense |
probably null |
|
|
R9626:Gjb4
|
UTSW |
4 |
127,246,081 (GRCm39) |
start gained |
probably benign |
|
|
Z1177:Gjb4
|
UTSW |
4 |
127,245,920 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
| Posted On |
2013-04-17 |
Incidental Mutation