Incidental Mutation 'R3031:Gjd4'
ID |
264741 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gjd4
|
Ensembl Gene |
ENSMUSG00000036855 |
Gene Name |
gap junction protein, delta 4 |
Synonyms |
connexin 39, Cx39, 9430022F06Rik |
MMRRC Submission |
040547-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3031 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
9278607-9282809 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to T
at 9280811 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Stop codon
at position 89
(S89*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035472
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041007]
|
AlphaFold |
Q8BSD4 |
Predicted Effect |
probably null
Transcript: ENSMUST00000041007
AA Change: S89*
|
SMART Domains |
Protein: ENSMUSP00000035472 Gene: ENSMUSG00000036855 AA Change: S89*
Domain | Start | End | E-Value | Type |
low complexity region
|
26 |
39 |
N/A |
INTRINSIC |
CNX
|
43 |
76 |
4.18e-13 |
SMART |
Connexin_CCC
|
131 |
197 |
1.23e-28 |
SMART |
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Connexins, such as GJD4, are involved in the formation of gap junctions, intercellular conduits that directly connect the cytoplasms of contacting cells. Each gap junction channel is formed by docking of 2 hemichannels, each of which contains 6 connexin subunits (Sohl et al., 2003 [PubMed 12881038]).[supplied by OMIM, Mar 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated muscle regeneration following BaCl2 injection. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 25 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
C |
A |
16: 20,193,863 (GRCm39) |
V753L |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,702,151 (GRCm39) |
L1068P |
unknown |
Het |
Cacna1h |
C |
A |
17: 25,652,108 (GRCm39) |
R12L |
probably damaging |
Het |
Cbln4 |
A |
G |
2: 171,884,100 (GRCm39) |
V40A |
probably damaging |
Het |
Ccdc170 |
T |
C |
10: 4,468,931 (GRCm39) |
S160P |
probably damaging |
Het |
Cdc37 |
T |
C |
9: 21,054,487 (GRCm39) |
E46G |
possibly damaging |
Het |
Cltc |
T |
C |
11: 86,621,158 (GRCm39) |
H287R |
probably damaging |
Het |
Dsg1a |
A |
T |
18: 20,473,549 (GRCm39) |
D874V |
probably damaging |
Het |
Gkn3 |
C |
T |
6: 87,360,507 (GRCm39) |
A163T |
probably damaging |
Het |
Hydin |
A |
G |
8: 111,329,848 (GRCm39) |
R4861G |
possibly damaging |
Het |
Kcnh8 |
GAGACCAACGAGCAGCTGATGCTTCAGA |
GAGA |
17: 53,032,934 (GRCm39) |
74 |
probably benign |
Het |
Lipe |
T |
C |
7: 25,084,320 (GRCm39) |
E588G |
possibly damaging |
Het |
Mael |
T |
C |
1: 166,032,375 (GRCm39) |
D328G |
probably damaging |
Het |
Mboat7 |
A |
G |
7: 3,681,687 (GRCm39) |
V398A |
probably benign |
Het |
Slc35e1 |
A |
G |
8: 73,238,735 (GRCm39) |
W258R |
probably benign |
Het |
Slc9a8 |
A |
G |
2: 167,293,201 (GRCm39) |
D183G |
probably damaging |
Het |
Sorcs1 |
G |
A |
19: 50,213,613 (GRCm39) |
R705C |
probably damaging |
Het |
Sult3a1 |
G |
A |
10: 33,753,345 (GRCm39) |
D214N |
possibly damaging |
Het |
Traf3ip1 |
T |
C |
1: 91,447,822 (GRCm39) |
V433A |
probably damaging |
Het |
Ubxn7 |
T |
A |
16: 32,194,125 (GRCm39) |
D232E |
probably benign |
Het |
Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
Vps13c |
T |
C |
9: 67,831,052 (GRCm39) |
S1561P |
probably benign |
Het |
Wdr48 |
T |
C |
9: 119,753,176 (GRCm39) |
V593A |
probably benign |
Het |
Zfp58 |
A |
G |
13: 67,640,231 (GRCm39) |
F87L |
probably benign |
Het |
Zfp663 |
A |
T |
2: 165,195,616 (GRCm39) |
L201* |
probably null |
Het |
|
Other mutations in Gjd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0046:Gjd4
|
UTSW |
18 |
9,280,998 (GRCm39) |
missense |
probably damaging |
0.98 |
R0046:Gjd4
|
UTSW |
18 |
9,280,998 (GRCm39) |
missense |
probably damaging |
0.98 |
R0157:Gjd4
|
UTSW |
18 |
9,280,549 (GRCm39) |
missense |
probably benign |
0.00 |
R0348:Gjd4
|
UTSW |
18 |
9,280,964 (GRCm39) |
missense |
possibly damaging |
0.77 |
R0538:Gjd4
|
UTSW |
18 |
9,280,244 (GRCm39) |
missense |
probably benign |
0.00 |
R1536:Gjd4
|
UTSW |
18 |
9,280,569 (GRCm39) |
missense |
probably damaging |
1.00 |
R2423:Gjd4
|
UTSW |
18 |
9,280,811 (GRCm39) |
nonsense |
probably null |
|
R2425:Gjd4
|
UTSW |
18 |
9,280,811 (GRCm39) |
nonsense |
probably null |
|
R3508:Gjd4
|
UTSW |
18 |
9,280,811 (GRCm39) |
nonsense |
probably null |
|
R4154:Gjd4
|
UTSW |
18 |
9,280,811 (GRCm39) |
nonsense |
probably null |
|
R4675:Gjd4
|
UTSW |
18 |
9,280,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5255:Gjd4
|
UTSW |
18 |
9,280,613 (GRCm39) |
missense |
probably benign |
0.00 |
R6452:Gjd4
|
UTSW |
18 |
9,280,457 (GRCm39) |
missense |
possibly damaging |
0.91 |
R7002:Gjd4
|
UTSW |
18 |
9,280,960 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7077:Gjd4
|
UTSW |
18 |
9,280,928 (GRCm39) |
missense |
probably damaging |
1.00 |
R7232:Gjd4
|
UTSW |
18 |
9,280,380 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:Gjd4
|
UTSW |
18 |
9,280,391 (GRCm39) |
missense |
probably benign |
0.03 |
R7355:Gjd4
|
UTSW |
18 |
9,280,860 (GRCm39) |
missense |
probably damaging |
1.00 |
R8398:Gjd4
|
UTSW |
18 |
9,280,326 (GRCm39) |
missense |
possibly damaging |
0.51 |
R9147:Gjd4
|
UTSW |
18 |
9,280,095 (GRCm39) |
missense |
probably benign |
0.01 |
R9148:Gjd4
|
UTSW |
18 |
9,280,095 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GTACATGCGAGCAAGACACG -3'
(R):5'- TCTGTCCTAGGCATGATCTGG -3'
Sequencing Primer
(F):5'- GAGCAAGACACGCGGGC -3'
(R):5'- ATCTGGCTGATCGTGGAGGTC -3'
|
Posted On |
2015-02-05 |