Incidental Mutation 'IGL03075:Gjb4'
| ID |
417656 |
| 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 # |
IGL03075
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
127244879-127247874 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 127245386 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 185
(V185A)
|
| 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 |
possibly damaging
Transcript: ENSMUST00000060419
AA Change: V185A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
AA Change: V185A
| 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 |
possibly damaging
Transcript: ENSMUST00000106090
AA Change: V185A
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
AA Change: V185A
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
G |
A |
13: 4,322,254 (GRCm39) |
R263C |
probably damaging |
Het |
| Axdnd1 |
A |
T |
1: 156,223,012 (GRCm39) |
S217T |
probably damaging |
Het |
| Crtc3 |
G |
A |
7: 80,254,151 (GRCm39) |
|
probably benign |
Het |
| Ctnna2 |
A |
T |
6: 76,931,713 (GRCm39) |
M642K |
probably benign |
Het |
| Ddx56 |
A |
T |
11: 6,211,632 (GRCm39) |
H491Q |
probably benign |
Het |
| Dvl1 |
A |
G |
4: 155,939,040 (GRCm39) |
E208G |
probably damaging |
Het |
| Fam135a |
A |
G |
1: 24,069,987 (GRCm39) |
|
probably benign |
Het |
| Gabpa |
T |
A |
16: 84,649,495 (GRCm39) |
V234D |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 93,939,706 (GRCm39) |
A149T |
probably damaging |
Het |
| Il1f10 |
T |
A |
2: 24,183,188 (GRCm39) |
I44N |
possibly damaging |
Het |
| Itih4 |
A |
G |
14: 30,614,240 (GRCm39) |
I397V |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,711,638 (GRCm39) |
R820* |
probably null |
Het |
| Mmp17 |
T |
C |
5: 129,672,138 (GRCm39) |
L137P |
probably damaging |
Het |
| Myh2 |
A |
G |
11: 67,071,662 (GRCm39) |
N493S |
probably benign |
Het |
| Myo9b |
A |
T |
8: 71,807,171 (GRCm39) |
Q1589L |
probably damaging |
Het |
| Or1e29 |
A |
T |
11: 73,667,298 (GRCm39) |
L285Q |
probably damaging |
Het |
| Or5ac20 |
T |
A |
16: 59,104,291 (GRCm39) |
T190S |
possibly damaging |
Het |
| Osbpl8 |
A |
G |
10: 111,127,417 (GRCm39) |
I834V |
probably benign |
Het |
| P2ry12 |
A |
T |
3: 59,125,579 (GRCm39) |
V32D |
probably damaging |
Het |
| Polg |
A |
G |
7: 79,101,660 (GRCm39) |
V1052A |
probably damaging |
Het |
| Prss38 |
A |
C |
11: 59,263,881 (GRCm39) |
V277G |
probably damaging |
Het |
| Rell2 |
G |
T |
18: 38,090,734 (GRCm39) |
R137L |
probably damaging |
Het |
| Ro60 |
A |
C |
1: 143,646,509 (GRCm39) |
S79A |
probably benign |
Het |
| Scara3 |
C |
T |
14: 66,168,603 (GRCm39) |
R338H |
probably damaging |
Het |
| Skint4 |
T |
C |
4: 111,944,239 (GRCm39) |
L17P |
probably damaging |
Het |
| Slco1a6 |
C |
T |
6: 142,048,875 (GRCm39) |
|
probably benign |
Het |
| Smyd2 |
T |
A |
1: 189,621,029 (GRCm39) |
I230F |
probably damaging |
Het |
| Sv2b |
G |
T |
7: 74,786,068 (GRCm39) |
H451N |
probably benign |
Het |
| Tbpl2 |
A |
T |
2: 23,961,997 (GRCm39) |
|
probably benign |
Het |
| Tmprss9 |
A |
G |
10: 80,719,863 (GRCm39) |
D144G |
possibly damaging |
Het |
| Vwa8 |
T |
C |
14: 79,171,196 (GRCm39) |
Y247H |
probably damaging |
Het |
| Zc3h15 |
T |
C |
2: 83,492,535 (GRCm39) |
Y337H |
possibly damaging |
Het |
|
| Other mutations in Gjb4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00922:Gjb4
|
APN |
4 |
127,245,146 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01629:Gjb4
|
APN |
4 |
127,245,419 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
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 |
2016-08-02 |
Incidental Mutation