Incidental Mutation 'IGL03396:Gjd3'
| ID |
421252 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Gjd3
|
| Ensembl Gene |
ENSMUSG00000047197 |
| Gene Name |
gap junction protein, delta 3 |
| Synonyms |
Gja11, connexin 30.2, cx30.2, connexin-30.2, Gjc1 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
IGL03396
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102691353 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 217
(K217E)
|
| 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: K217E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: K217E
| 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: K217E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: K217E
| 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: K217E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: K217E
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
G |
A |
11: 69,902,239 (GRCm39) |
R457* |
probably null |
Het |
| Arl5b |
C |
A |
2: 15,079,915 (GRCm39) |
T153K |
probably damaging |
Het |
| Arsb |
A |
T |
13: 94,075,825 (GRCm39) |
Y436F |
probably benign |
Het |
| Azgp1 |
C |
T |
5: 137,983,445 (GRCm39) |
P40L |
possibly damaging |
Het |
| B020004C17Rik |
A |
G |
14: 57,253,993 (GRCm39) |
T39A |
possibly damaging |
Het |
| Cacna2d3 |
G |
A |
14: 29,442,834 (GRCm39) |
Q67* |
probably null |
Het |
| Cdcp2 |
C |
A |
4: 106,964,369 (GRCm39) |
Y406* |
probably null |
Het |
| Cep89 |
T |
A |
7: 35,128,603 (GRCm39) |
D585E |
probably benign |
Het |
| Cfap65 |
A |
G |
1: 74,943,801 (GRCm39) |
F1570S |
probably damaging |
Het |
| Cnfn |
A |
G |
7: 25,067,783 (GRCm39) |
|
probably benign |
Het |
| Fgd6 |
G |
A |
10: 93,880,318 (GRCm39) |
V391I |
probably benign |
Het |
| Fra10ac1 |
C |
T |
19: 38,189,994 (GRCm39) |
|
probably null |
Het |
| Il20rb |
T |
C |
9: 100,341,251 (GRCm39) |
E285G |
probably damaging |
Het |
| Ints2 |
T |
C |
11: 86,103,888 (GRCm39) |
T1086A |
probably damaging |
Het |
| Itih4 |
A |
T |
14: 30,609,906 (GRCm39) |
I79F |
probably damaging |
Het |
| Jmjd6 |
A |
T |
11: 116,732,077 (GRCm39) |
L208H |
probably damaging |
Het |
| Lilrb4b |
A |
G |
10: 51,357,253 (GRCm39) |
I30V |
possibly damaging |
Het |
| Limch1 |
A |
G |
5: 67,111,016 (GRCm39) |
N81S |
probably damaging |
Het |
| Mettl21e |
A |
T |
1: 44,245,759 (GRCm39) |
N162K |
possibly damaging |
Het |
| Ninl |
A |
G |
2: 150,808,132 (GRCm39) |
S299P |
possibly damaging |
Het |
| Obscn |
A |
G |
11: 58,964,404 (GRCm39) |
L3046P |
probably benign |
Het |
| Or1j14 |
C |
A |
2: 36,417,692 (GRCm39) |
S89R |
probably benign |
Het |
| Or5b98 |
T |
A |
19: 12,931,184 (GRCm39) |
V77E |
probably damaging |
Het |
| Or6c68 |
A |
G |
10: 129,157,916 (GRCm39) |
I141M |
probably benign |
Het |
| Pnpla8 |
G |
A |
12: 44,330,309 (GRCm39) |
R287H |
probably benign |
Het |
| Pot1a |
A |
C |
6: 25,745,913 (GRCm39) |
I596R |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,131 (GRCm39) |
D329G |
probably damaging |
Het |
| Ptprr |
T |
G |
10: 116,024,235 (GRCm39) |
V182G |
probably damaging |
Het |
| Rrp1b |
T |
A |
17: 32,276,237 (GRCm39) |
|
probably benign |
Het |
| Sec24a |
A |
G |
11: 51,599,794 (GRCm39) |
V837A |
probably benign |
Het |
| Slc17a6 |
A |
G |
7: 51,318,840 (GRCm39) |
Y494C |
probably damaging |
Het |
| Slc38a10 |
A |
T |
11: 120,019,301 (GRCm39) |
I360N |
probably damaging |
Het |
| Snrpb2 |
T |
C |
2: 142,913,377 (GRCm39) |
F194L |
possibly damaging |
Het |
| Tcam1 |
A |
G |
11: 106,176,212 (GRCm39) |
I313V |
probably benign |
Het |
| Trpv1 |
A |
G |
11: 73,143,882 (GRCm39) |
N238S |
probably benign |
Het |
| Usp20 |
T |
C |
2: 30,901,729 (GRCm39) |
V498A |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,706,585 (GRCm39) |
S472P |
probably damaging |
Het |
| Vmn2r98 |
A |
T |
17: 19,290,107 (GRCm39) |
T548S |
possibly damaging |
Het |
| Zfp429 |
A |
T |
13: 67,544,159 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation