Incidental Mutation 'R8381:Gjb6'
| ID |
646964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjb6
|
| Ensembl Gene |
ENSMUSG00000040055 |
| Gene Name |
gap junction protein, beta 6 |
| Synonyms |
D14Bwg0506e, connexin 30, Cx30 |
| MMRRC Submission |
067748-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8381 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
57360760-57371068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57361919 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 114
(E114G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035630
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039380]
[ENSMUST00000160703]
|
| AlphaFold |
P70689 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039380
AA Change: E114G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000035630
Gene: ENSMUSG00000040055
AA Change: E114G
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
42 |
75 |
3.78e-20 |
SMART |
|
Connexin_CCC
|
146 |
213 |
5.95e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160703
AA Change: E114G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000124927
Gene: ENSMUSG00000040055
AA Change: E114G
| Domain | Start | End | E-Value | Type |
|---|
|
CNX
|
42 |
75 |
3.78e-20 |
SMART |
|
Blast:Connexin_CCC
|
146 |
173 |
5e-13 |
BLAST |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Gap junctions allow the transport of ions and metabolites between the cytoplasm of adjacent cells. They are formed by two hemichannels, made up of six connexin proteins assembled in groups. Each connexin protein has four transmembrane segments, two extracellular loops, a cytoplasmic loop formed between the two inner transmembrane segments, and the N- and C-terminus both being in the cytoplasm. The specificity of the gap junction is determined by which connexin proteins comprise the hemichannel. In the past, connexin protein names were based on their molecular weight, however the new nomenclature uses sequential numbers based on which form (alpha or beta) of the gap junction is present. This gene encodes one of the connexin proteins. Mutations in this gene have been found in some forms of deafness and in some families with hidrotic ectodermal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for one targeted mutation are viable and fertile but display progressive hearing loss, with severe degeneration of the auditory hair cells and loss of the endocochlear potential. Mice homozygous for a second allele display normal hearing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
C |
T |
3: 137,879,282 (GRCm39) |
|
probably null |
Het |
| Actrt3 |
A |
G |
3: 30,651,985 (GRCm39) |
*370R |
probably null |
Het |
| Adam34 |
A |
G |
8: 44,104,847 (GRCm39) |
I266T |
possibly damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Celsr2 |
T |
C |
3: 108,302,952 (GRCm39) |
N2507S |
probably damaging |
Het |
| E2f8 |
T |
C |
7: 48,527,710 (GRCm39) |
D144G |
probably damaging |
Het |
| Eif4enif1 |
T |
C |
11: 3,177,470 (GRCm39) |
S346P |
probably damaging |
Het |
| Fbln5 |
A |
G |
12: 101,728,114 (GRCm39) |
F270S |
probably benign |
Het |
| Fnip2 |
T |
A |
3: 79,373,000 (GRCm39) |
D1026V |
probably damaging |
Het |
| Fubp3 |
G |
A |
2: 31,482,509 (GRCm39) |
|
probably null |
Het |
| Gpr160 |
A |
G |
3: 30,949,930 (GRCm39) |
M1V |
probably null |
Het |
| Hey2 |
A |
G |
10: 30,709,986 (GRCm39) |
S256P |
probably damaging |
Het |
| Hnrnpll |
A |
T |
17: 80,337,920 (GRCm39) |
H590Q |
probably damaging |
Het |
| Ice2 |
T |
A |
9: 69,317,453 (GRCm39) |
H192Q |
probably damaging |
Het |
| Ighv1-20 |
T |
A |
12: 114,687,501 (GRCm39) |
Q81L |
probably benign |
Het |
| Ighv5-2 |
T |
A |
12: 113,542,325 (GRCm39) |
H51L |
probably benign |
Het |
| Jkampl |
A |
T |
6: 73,445,895 (GRCm39) |
V218E |
probably damaging |
Het |
| Kif27 |
T |
C |
13: 58,438,991 (GRCm39) |
D1190G |
probably benign |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Mettl14 |
A |
G |
3: 123,168,447 (GRCm39) |
Y198H |
probably damaging |
Het |
| Nlrp6 |
C |
T |
7: 140,503,754 (GRCm39) |
A620V |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51b6 |
T |
C |
7: 103,556,146 (GRCm39) |
F164L |
|
Het |
| Or5h22 |
A |
G |
16: 58,895,225 (GRCm39) |
S73P |
probably damaging |
Het |
| Or8h10 |
T |
C |
2: 86,808,373 (GRCm39) |
I256V |
probably benign |
Het |
| Pcbp4 |
G |
A |
9: 106,338,488 (GRCm39) |
A138T |
probably damaging |
Het |
| Pramel52-ps |
C |
T |
5: 94,531,881 (GRCm39) |
T255I |
probably damaging |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo3 |
T |
A |
9: 37,341,056 (GRCm39) |
D72V |
probably damaging |
Het |
| Slc16a5 |
A |
G |
11: 115,360,716 (GRCm39) |
S300G |
probably benign |
Het |
| Smg6 |
C |
T |
11: 74,822,566 (GRCm39) |
R670W |
probably damaging |
Het |
| Smok3c |
C |
T |
5: 138,063,824 (GRCm39) |
T437I |
probably benign |
Het |
| Stk36 |
A |
G |
1: 74,672,333 (GRCm39) |
I931V |
probably benign |
Het |
| Syk |
T |
C |
13: 52,787,085 (GRCm39) |
Y383H |
probably benign |
Het |
| Tacc2 |
T |
A |
7: 130,225,972 (GRCm39) |
S886T |
probably benign |
Het |
| Top1 |
A |
G |
2: 160,545,594 (GRCm39) |
M321V |
probably null |
Het |
| Ttc17 |
A |
G |
2: 94,132,166 (GRCm39) |
L598P |
probably damaging |
Het |
| Xdh |
T |
G |
17: 74,219,456 (GRCm39) |
I648L |
probably benign |
Het |
| Zfhx4 |
A |
C |
3: 5,447,676 (GRCm39) |
K1126T |
probably benign |
Het |
| Zfp729b |
T |
C |
13: 67,739,617 (GRCm39) |
T883A |
possibly damaging |
Het |
|
| Other mutations in Gjb6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00801:Gjb6
|
APN |
14 |
57,361,498 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL01683:Gjb6
|
APN |
14 |
57,361,815 (GRCm39) |
missense |
probably benign |
|
|
IGL01982:Gjb6
|
APN |
14 |
57,362,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02322:Gjb6
|
APN |
14 |
57,361,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02355:Gjb6
|
APN |
14 |
57,361,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02362:Gjb6
|
APN |
14 |
57,361,752 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2014:Gjb6
|
UTSW |
14 |
57,362,213 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4672:Gjb6
|
UTSW |
14 |
57,362,235 (GRCm39) |
missense |
probably benign |
|
|
R6480:Gjb6
|
UTSW |
14 |
57,361,899 (GRCm39) |
missense |
probably benign |
0.25 |
|
R7409:Gjb6
|
UTSW |
14 |
57,361,610 (GRCm39) |
nonsense |
probably null |
|
|
R8228:Gjb6
|
UTSW |
14 |
57,361,926 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8346:Gjb6
|
UTSW |
14 |
57,362,259 (GRCm39) |
start codon destroyed |
probably null |
1.00 |
|
R9483:Gjb6
|
UTSW |
14 |
57,361,511 (GRCm39) |
missense |
probably benign |
|
|
R9558:Gjb6
|
UTSW |
14 |
57,362,261 (GRCm39) |
start gained |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAGCAGTCCACGAGATTGGG -3'
(R):5'- GCAGGAGGACTTTGTCTGCAAC -3'
Sequencing Primer
(F):5'- GCAGGGGTCAATGCCACATTTC -3'
(R):5'- GAGGACTTTGTCTGCAACACTCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation