Incidental Mutation 'R5564:Gjd3'
ID |
436760 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Gjd3
|
Ensembl Gene |
ENSMUSG00000047197 |
Gene Name |
gap junction protein, delta 3 |
Synonyms |
Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1 |
MMRRC Submission |
043121-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.325)
|
Stock # |
R5564 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 102691029 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Serine
at position 325
(G325S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068933]
[ENSMUST00000092567]
[ENSMUST00000107075]
|
AlphaFold |
Q91YD1 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000068933
AA Change: G325S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000066901 Gene: ENSMUSG00000034520 AA Change: G325S
Domain | Start | End | E-Value | Type |
CNX
|
42 |
75 |
1.57e-17 |
SMART |
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
Connexin_CCC
|
187 |
253 |
3.44e-41 |
SMART |
coiled coil region
|
333 |
358 |
N/A |
INTRINSIC |
low complexity region
|
368 |
393 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000092567
AA Change: G325S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000090228 Gene: ENSMUSG00000034520 AA Change: G325S
Domain | Start | End | E-Value | Type |
CNX
|
42 |
75 |
1.57e-17 |
SMART |
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
Connexin_CCC
|
187 |
253 |
3.44e-41 |
SMART |
coiled coil region
|
333 |
358 |
N/A |
INTRINSIC |
low complexity region
|
368 |
393 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107075
AA Change: G325S
PolyPhen 2
Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000102690 Gene: ENSMUSG00000034520 AA Change: G325S
Domain | Start | End | E-Value | Type |
CNX
|
42 |
75 |
1.57e-17 |
SMART |
low complexity region
|
128 |
137 |
N/A |
INTRINSIC |
low complexity region
|
147 |
161 |
N/A |
INTRINSIC |
Connexin_CCC
|
187 |
253 |
3.44e-41 |
SMART |
coiled coil region
|
333 |
358 |
N/A |
INTRINSIC |
low complexity region
|
368 |
393 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131164
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155089
|
Meta Mutation Damage Score |
0.0742 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
Validation Efficiency |
98% (57/58) |
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the large family of connexins that are required for the formation of gap junctions. Six connexin monomers form a hemichannel, or connexon, on the cell surface. This connexon can interact with a connexon from a neighboring cell, thus forming a channel linking the cytoplasm of the 2 cells. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for a knock-out allele exhibit accelerated atrioventricular nodal conduction velocity in the heart but no significant alterations in excitability or fast network oscillations in the hippocampus. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2fm2 |
T |
C |
3: 59,659,513 (GRCm39) |
V322A |
probably benign |
Het |
Abca8b |
G |
T |
11: 109,825,407 (GRCm39) |
L1598M |
probably benign |
Het |
Adam4 |
T |
C |
12: 81,466,348 (GRCm39) |
T758A |
probably benign |
Het |
B3galnt2 |
T |
C |
13: 14,169,814 (GRCm39) |
I424T |
probably damaging |
Het |
Cacna1g |
T |
C |
11: 94,321,312 (GRCm39) |
Y1316C |
probably damaging |
Het |
Cacna2d1 |
T |
C |
5: 16,517,517 (GRCm39) |
S388P |
probably damaging |
Het |
Ccdc157 |
A |
G |
11: 4,098,765 (GRCm39) |
L247S |
probably damaging |
Het |
Cdh8 |
A |
G |
8: 99,757,498 (GRCm39) |
I700T |
possibly damaging |
Het |
Cdhr3 |
G |
T |
12: 33,098,985 (GRCm39) |
Y535* |
probably null |
Het |
Clasp2 |
T |
C |
9: 113,641,836 (GRCm39) |
|
probably null |
Het |
Col16a1 |
T |
A |
4: 129,947,151 (GRCm39) |
D165E |
probably damaging |
Het |
Col9a1 |
A |
T |
1: 24,234,436 (GRCm39) |
|
probably benign |
Het |
Cpa3 |
A |
T |
3: 20,296,307 (GRCm39) |
I10N |
possibly damaging |
Het |
Cstf3 |
T |
A |
2: 104,439,347 (GRCm39) |
|
probably benign |
Het |
Dnah3 |
C |
A |
7: 119,570,689 (GRCm39) |
|
probably null |
Het |
E2f6 |
T |
C |
12: 16,874,706 (GRCm39) |
C263R |
probably benign |
Het |
Eps8l2 |
C |
A |
7: 140,936,534 (GRCm39) |
Q288K |
possibly damaging |
Het |
Fam193a |
T |
A |
5: 34,578,199 (GRCm39) |
V231D |
probably damaging |
Het |
Gpatch8 |
T |
A |
11: 102,429,111 (GRCm39) |
E39D |
unknown |
Het |
Gpr107 |
C |
T |
2: 31,042,375 (GRCm39) |
A2V |
probably damaging |
Het |
Kansl3 |
G |
T |
1: 36,385,045 (GRCm39) |
H629N |
possibly damaging |
Het |
Kcna10 |
C |
A |
3: 107,101,545 (GRCm39) |
H59N |
probably benign |
Het |
Kitl |
A |
T |
10: 99,915,886 (GRCm39) |
E138D |
possibly damaging |
Het |
Kpna2 |
T |
C |
11: 106,881,571 (GRCm39) |
K353R |
probably damaging |
Het |
M1ap |
T |
A |
6: 82,958,798 (GRCm39) |
I143N |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,420,538 (GRCm39) |
S239P |
possibly damaging |
Het |
Med13l |
T |
A |
5: 118,880,105 (GRCm39) |
S1066T |
probably damaging |
Het |
Mettl23 |
G |
T |
11: 116,739,865 (GRCm39) |
E47* |
probably null |
Het |
Or52i2 |
T |
C |
7: 102,319,433 (GRCm39) |
F102S |
probably damaging |
Het |
Or5af1 |
C |
T |
11: 58,722,039 (GRCm39) |
Q20* |
probably null |
Het |
Proca1 |
T |
A |
11: 78,092,699 (GRCm39) |
D48E |
possibly damaging |
Het |
Rab34 |
T |
G |
11: 78,082,458 (GRCm39) |
V227G |
probably damaging |
Het |
Rab7 |
A |
T |
6: 87,990,632 (GRCm39) |
L14Q |
probably damaging |
Het |
Rasgef1c |
C |
T |
11: 49,847,934 (GRCm39) |
S23F |
probably benign |
Het |
Rit1 |
A |
G |
3: 88,633,457 (GRCm39) |
|
probably benign |
Het |
Scin |
T |
C |
12: 40,174,568 (GRCm39) |
T172A |
probably benign |
Het |
Scmh1 |
C |
A |
4: 120,325,575 (GRCm39) |
N97K |
probably damaging |
Het |
Skint6 |
T |
C |
4: 112,846,162 (GRCm39) |
E655G |
possibly damaging |
Het |
Slc22a15 |
A |
G |
3: 101,771,905 (GRCm39) |
V243A |
probably benign |
Het |
Smg1 |
A |
G |
7: 117,789,042 (GRCm39) |
|
probably benign |
Het |
Smim7 |
C |
T |
8: 73,324,867 (GRCm39) |
G3R |
probably damaging |
Het |
Snurf |
C |
T |
7: 59,645,282 (GRCm39) |
R44H |
possibly damaging |
Het |
Snx13 |
G |
A |
12: 35,174,471 (GRCm39) |
A667T |
possibly damaging |
Het |
Sowaha |
T |
G |
11: 53,369,590 (GRCm39) |
H382P |
probably damaging |
Het |
Tbc1d2 |
C |
T |
4: 46,629,912 (GRCm39) |
G252R |
probably benign |
Het |
Tmem259 |
G |
T |
10: 79,814,442 (GRCm39) |
|
probably null |
Het |
Topbp1 |
A |
G |
9: 103,211,277 (GRCm39) |
T945A |
probably damaging |
Het |
Tor1aip2 |
T |
C |
1: 155,939,307 (GRCm39) |
|
probably benign |
Het |
Ube3b |
T |
C |
5: 114,527,136 (GRCm39) |
V118A |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,711,717 (GRCm39) |
K773E |
probably damaging |
Het |
Wnk1 |
G |
A |
6: 119,925,852 (GRCm39) |
|
probably benign |
Het |
Zfp871 |
A |
G |
17: 32,994,842 (GRCm39) |
V111A |
possibly damaging |
Het |
|
Other mutations in Gjd3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01505:Gjd3
|
APN |
11 |
102,691,552 (GRCm39) |
missense |
probably benign |
0.16 |
IGL02083:Gjd3
|
APN |
11 |
98,873,587 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03164:Gjd3
|
APN |
11 |
102,691,547 (GRCm39) |
missense |
possibly damaging |
0.81 |
IGL03396:Gjd3
|
APN |
11 |
102,691,353 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4812001:Gjd3
|
UTSW |
11 |
102,691,807 (GRCm39) |
nonsense |
probably null |
|
R0683:Gjd3
|
UTSW |
11 |
102,691,237 (GRCm39) |
missense |
probably benign |
0.00 |
R1642:Gjd3
|
UTSW |
11 |
98,873,535 (GRCm39) |
missense |
probably benign |
0.01 |
R1712:Gjd3
|
UTSW |
11 |
102,691,706 (GRCm39) |
missense |
possibly damaging |
0.96 |
R2267:Gjd3
|
UTSW |
11 |
98,873,227 (GRCm39) |
missense |
probably damaging |
0.98 |
R3853:Gjd3
|
UTSW |
11 |
102,690,952 (GRCm39) |
missense |
probably benign |
0.10 |
R4397:Gjd3
|
UTSW |
11 |
98,873,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R4948:Gjd3
|
UTSW |
11 |
102,691,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R5811:Gjd3
|
UTSW |
11 |
98,873,226 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6577:Gjd3
|
UTSW |
11 |
102,691,130 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6939:Gjd3
|
UTSW |
11 |
102,691,733 (GRCm39) |
missense |
probably damaging |
0.98 |
R7263:Gjd3
|
UTSW |
11 |
102,690,963 (GRCm39) |
missense |
possibly damaging |
0.69 |
R7352:Gjd3
|
UTSW |
11 |
102,691,278 (GRCm39) |
missense |
probably damaging |
1.00 |
R7578:Gjd3
|
UTSW |
11 |
98,873,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R7657:Gjd3
|
UTSW |
11 |
98,873,586 (GRCm39) |
nonsense |
probably null |
|
R7900:Gjd3
|
UTSW |
11 |
102,690,920 (GRCm39) |
missense |
probably benign |
0.00 |
R8187:Gjd3
|
UTSW |
11 |
102,691,381 (GRCm39) |
nonsense |
probably null |
|
R8544:Gjd3
|
UTSW |
11 |
98,873,488 (GRCm39) |
nonsense |
probably null |
|
R8704:Gjd3
|
UTSW |
11 |
98,873,445 (GRCm39) |
missense |
probably damaging |
1.00 |
R8778:Gjd3
|
UTSW |
11 |
98,873,842 (GRCm39) |
start codon destroyed |
probably null |
0.99 |
R8883:Gjd3
|
UTSW |
11 |
102,691,769 (GRCm39) |
missense |
probably damaging |
0.98 |
R8924:Gjd3
|
UTSW |
11 |
98,873,325 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Gjd3
|
UTSW |
11 |
102,690,834 (GRCm39) |
missense |
unknown |
|
|
Predicted Primers |
PCR Primer
(F):5'- TACTGCTTTTGTTGGACCCAG -3'
(R):5'- GGGAGATGCTTCACTTAGGG -3'
Sequencing Primer
(F):5'- AGATTTGGACCCCACTTTGG -3'
(R):5'- TGGGACAATTCGAGACTCAC -3'
|
Posted On |
2016-10-24 |