Incidental Mutation 'R2423:Gjd4'
| ID |
249456 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Gjd4
|
| Ensembl Gene |
ENSMUSG00000036855 |
| Gene Name |
gap junction protein, delta 4 |
| Synonyms |
connexin 39, Cx39, 9430022F06Rik |
| MMRRC Submission |
040385-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2423 (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: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer2 |
T |
C |
14: 60,616,656 (GRCm39) |
S284P |
possibly damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,532 (GRCm39) |
V614A |
probably benign |
Het |
| Arhgap9 |
A |
T |
10: 127,162,993 (GRCm39) |
|
probably null |
Het |
| Brf1 |
G |
A |
12: 112,963,819 (GRCm39) |
A53V |
probably benign |
Het |
| Cyp1a2 |
C |
T |
9: 57,587,232 (GRCm39) |
R353Q |
probably damaging |
Het |
| Deup1 |
G |
T |
9: 15,503,754 (GRCm39) |
S269* |
probably null |
Het |
| F11r |
T |
A |
1: 171,289,191 (GRCm39) |
Y218N |
possibly damaging |
Het |
| Mapkbp1 |
A |
T |
2: 119,855,071 (GRCm39) |
E1430V |
probably benign |
Het |
| Mga |
A |
G |
2: 119,795,274 (GRCm39) |
K2986R |
probably damaging |
Het |
| Myo9b |
G |
T |
8: 71,780,584 (GRCm39) |
V494L |
probably damaging |
Het |
| Nbea |
G |
A |
3: 55,992,727 (GRCm39) |
T293I |
probably damaging |
Het |
| Neto2 |
C |
T |
8: 86,396,396 (GRCm39) |
R83Q |
probably damaging |
Het |
| Ocm |
A |
T |
5: 143,961,388 (GRCm39) |
|
probably null |
Het |
| Or52z14 |
C |
T |
7: 103,253,241 (GRCm39) |
R127C |
probably benign |
Het |
| Pcdha11 |
T |
C |
18: 37,140,477 (GRCm39) |
I702T |
possibly damaging |
Het |
| Plxna2 |
C |
T |
1: 194,431,625 (GRCm39) |
S538F |
probably damaging |
Het |
| Rbbp8nl |
A |
T |
2: 179,922,764 (GRCm39) |
S210T |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,813,774 (GRCm39) |
I340F |
probably benign |
Het |
| Rft1 |
T |
C |
14: 30,388,724 (GRCm39) |
L216P |
possibly damaging |
Het |
| Slc26a10 |
T |
A |
10: 127,015,606 (GRCm39) |
|
probably null |
Het |
| Slc34a1 |
G |
A |
13: 55,556,865 (GRCm39) |
A235T |
possibly damaging |
Het |
| Spag17 |
A |
G |
3: 100,010,772 (GRCm39) |
T2089A |
probably benign |
Het |
| Srek1 |
G |
C |
13: 103,889,536 (GRCm39) |
S260* |
probably null |
Het |
| Sspo |
T |
C |
6: 48,430,989 (GRCm39) |
V624A |
probably benign |
Het |
| Tapt1 |
T |
C |
5: 44,349,795 (GRCm39) |
I251V |
probably benign |
Het |
| Tmem248 |
T |
C |
5: 130,258,403 (GRCm39) |
I32T |
probably damaging |
Het |
| Tnk1 |
T |
G |
11: 69,746,587 (GRCm39) |
T209P |
probably damaging |
Het |
| Trip12 |
TATACATACATACATACATACATACATACATAC |
TATACATACATACATACATACATACATACATACATAC |
1: 84,792,511 (GRCm39) |
|
probably null |
Het |
| Trp53tg5 |
T |
A |
2: 164,313,250 (GRCm39) |
R142* |
probably null |
Het |
| Upf1 |
C |
T |
8: 70,791,110 (GRCm39) |
R544H |
probably damaging |
Het |
| Vldlr |
C |
T |
19: 27,213,688 (GRCm39) |
T125I |
possibly damaging |
Het |
| Vps8 |
A |
G |
16: 21,378,087 (GRCm39) |
T1033A |
probably benign |
Het |
| Wiz |
A |
C |
17: 32,580,859 (GRCm39) |
H197Q |
probably damaging |
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 |
|
R2425:Gjd4
|
UTSW |
18 |
9,280,811 (GRCm39) |
nonsense |
probably null |
|
|
R3031: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'- GGTACATGCGAGCAAGACAC -3'
(R):5'- CTGTCCTAGGCATGATCTGG -3'
Sequencing Primer
(F):5'- CGAGCAAGACACGCGGG -3'
(R):5'- ATCTGGCTGATCGTGGAGGTC -3'
|
| Posted On |
2014-11-12 |
Incidental Mutation