Incidental Mutation 'IGL02083:Gjd3'
ID |
283442 |
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 # |
IGL02083
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 98873587 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 86
(S86P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000055246
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000062931]
|
AlphaFold |
Q91YD1 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000062931
AA Change: S86P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000055246 Gene: ENSMUSG00000047197 AA Change: S86P
Domain | Start | End | E-Value | Type |
CNX
|
43 |
76 |
1.85e-14 |
SMART |
Connexin_CCC
|
146 |
212 |
3.14e-35 |
SMART |
low complexity region
|
222 |
234 |
N/A |
INTRINSIC |
low complexity region
|
251 |
268 |
N/A |
INTRINSIC |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
C |
11: 69,780,336 (GRCm39) |
L36V |
possibly damaging |
Het |
Aoc1l1 |
G |
A |
6: 48,953,194 (GRCm39) |
G373D |
probably damaging |
Het |
Atp13a3 |
T |
C |
16: 30,166,524 (GRCm39) |
T540A |
possibly damaging |
Het |
Bend5 |
A |
C |
4: 111,316,964 (GRCm39) |
I376L |
probably benign |
Het |
Ccdc138 |
T |
C |
10: 58,380,736 (GRCm39) |
|
probably benign |
Het |
Cdh10 |
T |
A |
15: 18,986,975 (GRCm39) |
I402N |
possibly damaging |
Het |
Cfap44 |
T |
C |
16: 44,257,525 (GRCm39) |
V1020A |
probably damaging |
Het |
Chd2 |
A |
T |
7: 73,130,816 (GRCm39) |
S749T |
possibly damaging |
Het |
Enpp3 |
T |
A |
10: 24,652,692 (GRCm39) |
D755V |
probably damaging |
Het |
Fmo6 |
T |
A |
1: 162,748,033 (GRCm39) |
K344* |
probably null |
Het |
Gabbr1 |
A |
G |
17: 37,380,957 (GRCm39) |
T767A |
possibly damaging |
Het |
Grin1 |
A |
G |
2: 25,188,513 (GRCm39) |
V432A |
possibly damaging |
Het |
Igf2r |
A |
T |
17: 12,912,079 (GRCm39) |
C1849* |
probably null |
Het |
Jcad |
G |
T |
18: 4,680,266 (GRCm39) |
|
probably benign |
Het |
Mrgpra4 |
A |
T |
7: 47,630,808 (GRCm39) |
C264* |
probably null |
Het |
Naa80 |
G |
T |
9: 107,460,798 (GRCm39) |
R231L |
probably benign |
Het |
Napepld |
T |
C |
5: 21,881,065 (GRCm39) |
Y110C |
probably damaging |
Het |
Ncapd3 |
A |
G |
9: 26,963,117 (GRCm39) |
E474G |
probably damaging |
Het |
Pkhd1 |
T |
A |
1: 20,271,451 (GRCm39) |
D3034V |
probably damaging |
Het |
Plxnc1 |
T |
C |
10: 94,758,587 (GRCm39) |
T370A |
possibly damaging |
Het |
Ptger4 |
C |
T |
15: 5,272,655 (GRCm39) |
R13H |
probably benign |
Het |
Scg2 |
T |
A |
1: 79,413,941 (GRCm39) |
T261S |
probably benign |
Het |
Sfswap |
T |
C |
5: 129,616,855 (GRCm39) |
V433A |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,086,686 (GRCm39) |
Y635H |
probably damaging |
Het |
Sp5 |
C |
A |
2: 70,306,758 (GRCm39) |
P148T |
possibly damaging |
Het |
Tlr5 |
A |
G |
1: 182,801,449 (GRCm39) |
N251S |
possibly damaging |
Het |
Tmem87a |
A |
T |
2: 120,227,861 (GRCm39) |
N95K |
probably damaging |
Het |
Unc45b |
C |
T |
11: 82,813,745 (GRCm39) |
T384M |
probably damaging |
Het |
Unc5c |
T |
C |
3: 141,420,408 (GRCm39) |
L117P |
probably damaging |
Het |
Vcan |
T |
C |
13: 89,873,684 (GRCm39) |
N57D |
probably damaging |
Het |
Zcchc8 |
G |
T |
5: 123,838,981 (GRCm39) |
T519K |
probably damaging |
Het |
Zfp729b |
G |
A |
13: 67,743,349 (GRCm39) |
T72I |
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 |
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 |
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 |
2015-04-16 |