Incidental Mutation 'IGL03164:Gjd3'
| ID |
411536 |
| 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: 0.325)
|
| Stock # |
IGL03164
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 102691547 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 152
(N152I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068933]
[ENSMUST00000092567]
[ENSMUST00000107075]
|
| AlphaFold |
Q91YD1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000068933
AA Change: N152I
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: N152I
| 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 |
possibly damaging
Transcript: ENSMUST00000092567
AA Change: N152I
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: N152I
| 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 |
possibly damaging
Transcript: ENSMUST00000107075
AA Change: N152I
PolyPhen 2
Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: N152I
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadac |
A |
G |
3: 59,947,070 (GRCm39) |
D256G |
probably damaging |
Het |
| Abcb11 |
A |
T |
2: 69,122,343 (GRCm39) |
L380* |
probably null |
Het |
| Aco1 |
A |
T |
4: 40,167,116 (GRCm39) |
N110I |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,866,918 (GRCm39) |
D126G |
probably damaging |
Het |
| Anks1b |
T |
G |
10: 89,878,554 (GRCm39) |
V121G |
probably damaging |
Het |
| Ap1s3 |
A |
G |
1: 79,602,887 (GRCm39) |
L40P |
probably damaging |
Het |
| Cd19 |
C |
A |
7: 126,012,681 (GRCm39) |
M237I |
possibly damaging |
Het |
| Chil6 |
T |
C |
3: 106,301,714 (GRCm39) |
T129A |
probably benign |
Het |
| Chtf18 |
A |
G |
17: 25,945,816 (GRCm39) |
M94T |
probably benign |
Het |
| Clstn2 |
G |
T |
9: 97,681,462 (GRCm39) |
D59E |
possibly damaging |
Het |
| Cplx3 |
T |
C |
9: 57,517,278 (GRCm39) |
T369A |
probably damaging |
Het |
| Ctnnbl1 |
A |
C |
2: 157,659,681 (GRCm39) |
M253L |
probably benign |
Het |
| Erg |
T |
C |
16: 95,210,730 (GRCm39) |
T41A |
possibly damaging |
Het |
| Ints1 |
A |
G |
5: 139,738,490 (GRCm39) |
L2084P |
probably damaging |
Het |
| Isoc1 |
C |
T |
18: 58,806,404 (GRCm39) |
S238L |
probably damaging |
Het |
| Kdm5a |
T |
A |
6: 120,415,980 (GRCm39) |
D1633E |
probably damaging |
Het |
| Krt76 |
T |
C |
15: 101,795,886 (GRCm39) |
D428G |
possibly damaging |
Het |
| Lrp2 |
G |
T |
2: 69,295,043 (GRCm39) |
T3425K |
probably damaging |
Het |
| Lta4h |
T |
C |
10: 93,306,659 (GRCm39) |
|
probably benign |
Het |
| Nap1l4 |
C |
T |
7: 143,091,953 (GRCm39) |
|
probably null |
Het |
| Nlrp5 |
T |
A |
7: 23,117,798 (GRCm39) |
Y507* |
probably null |
Het |
| Nps |
T |
C |
7: 134,874,039 (GRCm39) |
S53P |
probably damaging |
Het |
| Oprk1 |
A |
T |
1: 5,669,087 (GRCm39) |
I178F |
probably damaging |
Het |
| Or2a12 |
C |
T |
6: 42,905,064 (GRCm39) |
R300* |
probably null |
Het |
| Or5p1 |
T |
C |
7: 107,916,901 (GRCm39) |
S267P |
probably damaging |
Het |
| Osgin2 |
G |
T |
4: 16,001,938 (GRCm39) |
S204R |
probably benign |
Het |
| Otop1 |
G |
T |
5: 38,445,306 (GRCm39) |
G155* |
probably null |
Het |
| Peli3 |
A |
G |
19: 4,986,144 (GRCm39) |
|
probably null |
Het |
| Pex7 |
T |
A |
10: 19,770,461 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
T |
C |
15: 98,029,843 (GRCm39) |
L749P |
probably damaging |
Het |
| Pwp1 |
T |
A |
10: 85,714,367 (GRCm39) |
F103Y |
probably benign |
Het |
| Rhod |
T |
C |
19: 4,482,829 (GRCm39) |
K63E |
possibly damaging |
Het |
| Rtl1 |
T |
C |
12: 109,559,367 (GRCm39) |
E824G |
probably damaging |
Het |
| Sema4d |
A |
G |
13: 51,862,958 (GRCm39) |
F467L |
possibly damaging |
Het |
| Septin10 |
T |
C |
10: 59,016,921 (GRCm39) |
E201G |
probably damaging |
Het |
| Slc37a3 |
G |
A |
6: 39,322,237 (GRCm39) |
T389I |
probably benign |
Het |
| Slco2b1 |
C |
T |
7: 99,334,743 (GRCm39) |
A243T |
probably damaging |
Het |
| Sorbs2 |
A |
G |
8: 46,235,911 (GRCm39) |
T187A |
probably benign |
Het |
| Supt20 |
T |
A |
3: 54,620,609 (GRCm39) |
D389E |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,352,699 (GRCm39) |
D713G |
unknown |
Het |
| Trappc10 |
T |
C |
10: 78,056,076 (GRCm39) |
R209G |
probably damaging |
Het |
| Unc119 |
A |
G |
11: 78,239,002 (GRCm39) |
D176G |
probably damaging |
Het |
| Usb1 |
G |
A |
8: 96,060,112 (GRCm39) |
R21Q |
probably 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 |
|
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 |
|
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