Incidental Mutation 'IGL03376:Gjb5'
| ID |
420489 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gjb5
|
| Ensembl Gene |
ENSMUSG00000042357 |
| Gene Name |
gap junction protein, beta 5 |
| Synonyms |
Cnx31.1, Cx31.1, Gjb-5, connexin 31.1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.076)
|
| Stock # |
IGL03376
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
127248600-127251957 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127250048 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 32
(R32H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045325
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046498]
[ENSMUST00000060419]
[ENSMUST00000106090]
|
| AlphaFold |
Q02739 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000046498
AA Change: R32H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045325
Gene: ENSMUSG00000042357
AA Change: R32H
| 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
|
| SMART Domains |
Protein: ENSMUSP00000053307
Gene: ENSMUSG00000046623
| 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
|
| SMART Domains |
Protein: ENSMUSP00000101696
Gene: ENSMUSG00000046623
| 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 member of the beta-type (group I) connexin family. The encoded protein is a gap junction protein involved in intercellular communication related to epidermal differentiation and environmental sensing. This gene has been linked to non-small cell lung cancer. [provided by RefSeq, Nov 2012]
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality, reduced weight and reduced placental development. [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 |
|---|
| Atp6v1b2 |
T |
C |
8: 69,554,811 (GRCm39) |
|
probably benign |
Het |
| Ccdc122 |
A |
G |
14: 77,306,352 (GRCm39) |
E41G |
probably damaging |
Het |
| Cdh3 |
C |
T |
8: 107,268,036 (GRCm39) |
T357I |
probably benign |
Het |
| Cfap57 |
T |
A |
4: 118,441,917 (GRCm39) |
Q717L |
probably damaging |
Het |
| Cfap58 |
A |
T |
19: 48,023,164 (GRCm39) |
T859S |
possibly damaging |
Het |
| Cmtr1 |
C |
T |
17: 29,910,385 (GRCm39) |
R497C |
probably benign |
Het |
| Csmd2 |
T |
C |
4: 128,411,464 (GRCm39) |
I2494T |
probably benign |
Het |
| Dmkn |
C |
T |
7: 30,470,667 (GRCm39) |
T385I |
possibly damaging |
Het |
| Eml3 |
A |
G |
19: 8,911,154 (GRCm39) |
D260G |
probably damaging |
Het |
| Gbf1 |
T |
C |
19: 46,250,960 (GRCm39) |
F493L |
possibly damaging |
Het |
| Hpx |
C |
T |
7: 105,241,458 (GRCm39) |
|
probably benign |
Het |
| Ikzf3 |
T |
A |
11: 98,379,779 (GRCm39) |
H163L |
probably damaging |
Het |
| Irak3 |
G |
A |
10: 119,982,541 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
G |
A |
2: 10,211,584 (GRCm39) |
V275I |
probably benign |
Het |
| Klc1 |
G |
T |
12: 111,742,387 (GRCm39) |
E174D |
probably damaging |
Het |
| Ly6g6e |
A |
G |
17: 35,297,208 (GRCm39) |
*108W |
probably null |
Het |
| Mcph1 |
T |
C |
8: 18,646,989 (GRCm39) |
S31P |
probably damaging |
Het |
| Mettl4 |
A |
T |
17: 95,042,799 (GRCm39) |
S346T |
probably damaging |
Het |
| Myo3a |
A |
T |
2: 22,490,086 (GRCm39) |
|
probably benign |
Het |
| Or2ag19 |
T |
A |
7: 106,444,677 (GRCm39) |
N286K |
probably damaging |
Het |
| Otol1 |
A |
G |
3: 69,934,845 (GRCm39) |
E279G |
probably damaging |
Het |
| Pappa |
T |
A |
4: 65,115,071 (GRCm39) |
N722K |
probably benign |
Het |
| Pramel7 |
A |
G |
2: 87,319,947 (GRCm39) |
S449P |
probably damaging |
Het |
| Rassf9 |
A |
G |
10: 102,381,059 (GRCm39) |
N145S |
probably damaging |
Het |
| Robo2 |
T |
C |
16: 73,753,380 (GRCm39) |
I158M |
probably damaging |
Het |
| Sbf1 |
A |
G |
15: 89,173,219 (GRCm39) |
|
probably benign |
Het |
| Slc30a8 |
C |
T |
15: 52,169,853 (GRCm39) |
R27* |
probably null |
Het |
| Tmco2 |
T |
A |
4: 120,966,249 (GRCm39) |
T36S |
probably benign |
Het |
| Tns4 |
T |
C |
11: 98,969,382 (GRCm39) |
S360G |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,420,574 (GRCm39) |
|
probably null |
Het |
| Wwc1 |
C |
T |
11: 35,743,121 (GRCm39) |
R900Q |
possibly damaging |
Het |
| Zzef1 |
T |
C |
11: 72,767,377 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Gjb5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02814:Gjb5
|
APN |
4 |
127,249,355 (GRCm39) |
missense |
probably benign |
0.03 |
|
PIT4508001:Gjb5
|
UTSW |
4 |
127,250,033 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2090:Gjb5
|
UTSW |
4 |
127,249,794 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2197:Gjb5
|
UTSW |
4 |
127,250,063 (GRCm39) |
splice site |
probably null |
|
|
R4968:Gjb5
|
UTSW |
4 |
127,250,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5419:Gjb5
|
UTSW |
4 |
127,249,652 (GRCm39) |
missense |
probably benign |
|
|
R5494:Gjb5
|
UTSW |
4 |
127,249,347 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5664:Gjb5
|
UTSW |
4 |
127,249,722 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5806:Gjb5
|
UTSW |
4 |
127,249,718 (GRCm39) |
missense |
probably benign |
|
|
R6369:Gjb5
|
UTSW |
4 |
127,249,723 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R6408:Gjb5
|
UTSW |
4 |
127,249,940 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7747:Gjb5
|
UTSW |
4 |
127,249,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8488:Gjb5
|
UTSW |
4 |
127,250,078 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2016-08-02 |
Incidental Mutation