Incidental Mutation 'R3853:Gjd3'
| ID |
276023 |
| 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 |
040900-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.325)
|
| Stock # |
R3853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 102690952 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 350
(D350E)
|
| 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: D350E
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: D350E
| 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: D350E
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: D350E
| 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: D350E
PolyPhen 2
Score 0.097 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: D350E
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 97.2%
- 20x: 94.4%
|
| Validation Efficiency |
96% (47/49) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2010315B03Rik |
T |
A |
9: 124,055,976 (GRCm39) |
H316L |
probably damaging |
Het |
| Cadps |
A |
G |
14: 12,509,090 (GRCm38) |
|
probably benign |
Het |
| Cluh |
A |
G |
11: 74,547,279 (GRCm39) |
D44G |
probably benign |
Het |
| Copb1 |
A |
G |
7: 113,822,551 (GRCm39) |
V726A |
probably damaging |
Het |
| Dsg4 |
T |
C |
18: 20,582,291 (GRCm39) |
V79A |
probably benign |
Het |
| Exo1 |
A |
T |
1: 175,720,554 (GRCm39) |
I291F |
probably benign |
Het |
| Eya4 |
C |
T |
10: 22,992,574 (GRCm39) |
A460T |
probably damaging |
Het |
| Hcar2 |
T |
C |
5: 124,002,475 (GRCm39) |
M343V |
probably benign |
Het |
| Ifna15 |
T |
C |
4: 88,476,046 (GRCm39) |
Y146C |
probably damaging |
Het |
| Lce3e |
C |
T |
3: 92,875,139 (GRCm39) |
Q32* |
probably null |
Het |
| Llgl1 |
T |
C |
11: 60,598,075 (GRCm39) |
L373P |
probably damaging |
Het |
| Mark2 |
A |
G |
19: 7,254,655 (GRCm39) |
C642R |
probably damaging |
Het |
| Mbd3l2 |
A |
G |
9: 18,356,092 (GRCm39) |
Q139R |
probably benign |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Nynrin |
T |
A |
14: 56,101,562 (GRCm39) |
N410K |
probably benign |
Het |
| Or10g7 |
A |
T |
9: 39,905,450 (GRCm39) |
T115S |
probably damaging |
Het |
| Or4a71 |
A |
T |
2: 89,357,917 (GRCm39) |
M279K |
possibly damaging |
Het |
| Or5b112 |
A |
G |
19: 13,319,862 (GRCm39) |
T247A |
possibly damaging |
Het |
| Or7a38 |
T |
A |
10: 78,752,781 (GRCm39) |
Y36N |
probably damaging |
Het |
| Or8b1 |
G |
T |
9: 38,400,247 (GRCm39) |
R307S |
probably benign |
Het |
| Padi3 |
T |
C |
4: 140,518,580 (GRCm39) |
|
probably benign |
Het |
| Prkce |
A |
G |
17: 86,476,277 (GRCm39) |
D86G |
probably damaging |
Het |
| Pwwp3b |
C |
T |
X: 138,137,403 (GRCm39) |
|
probably null |
Het |
| Rad21 |
T |
G |
15: 51,835,712 (GRCm39) |
I234L |
probably benign |
Het |
| Scn4a |
A |
T |
11: 106,210,932 (GRCm39) |
M1695K |
possibly damaging |
Het |
| Sdccag8 |
T |
C |
1: 176,681,361 (GRCm39) |
S325P |
probably damaging |
Het |
| Sebox |
G |
A |
11: 78,394,975 (GRCm39) |
G106R |
probably benign |
Het |
| Serpinb9 |
A |
G |
13: 33,199,503 (GRCm39) |
E266G |
possibly damaging |
Het |
| Shoc1 |
T |
C |
4: 59,047,390 (GRCm39) |
N1410D |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,289,372 (GRCm39) |
|
probably benign |
Het |
| Tmc6 |
A |
T |
11: 117,663,884 (GRCm39) |
L474* |
probably null |
Het |
| Tmem132c |
T |
C |
5: 127,436,933 (GRCm39) |
Y141H |
probably benign |
Het |
| Trap1 |
G |
A |
16: 3,872,686 (GRCm39) |
R328C |
possibly damaging |
Het |
| Trim36 |
C |
A |
18: 46,305,439 (GRCm39) |
|
probably benign |
Het |
| Trmt2a |
A |
T |
16: 18,069,055 (GRCm39) |
Y299F |
possibly damaging |
Het |
| Trrap |
A |
G |
5: 144,728,975 (GRCm39) |
K630E |
probably damaging |
Het |
| Tsnaxip1 |
A |
T |
8: 106,567,333 (GRCm39) |
|
probably benign |
Het |
| Ttc6 |
G |
T |
12: 57,775,335 (GRCm39) |
C1677F |
possibly damaging |
Het |
| Ugt2a3 |
A |
T |
5: 87,485,018 (GRCm39) |
V2D |
|
Het |
| Usp9x |
A |
G |
X: 12,964,822 (GRCm39) |
D77G |
probably benign |
Het |
| Wfs1 |
C |
A |
5: 37,125,968 (GRCm39) |
V308L |
probably benign |
Het |
| Zan |
A |
C |
5: 137,472,326 (GRCm39) |
L140R |
probably damaging |
Het |
| Zc3h3 |
A |
T |
15: 75,709,346 (GRCm39) |
S508T |
probably benign |
Het |
| Zswim3 |
A |
G |
2: 164,662,777 (GRCm39) |
Y419C |
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 |
|
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 |
|
R5564:Gjd3
|
UTSW |
11 |
102,691,029 (GRCm39) |
missense |
probably benign |
0.04 |
|
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'- GGAAGTCATTATTCAGCAAGTTGC -3'
(R):5'- CCCTGGCTATAACATTGCTGTC -3'
Sequencing Primer
(F):5'- GCAAGTTGCTGCTTACCATAAAC -3'
(R):5'- CTGGCTATAACATTGCTGTCAAACC -3'
|
| Posted On |
2015-04-06 |
Incidental Mutation