Incidental Mutation 'R6577:Gjd3'
| ID |
523556 |
| 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 |
044701-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.324)
|
| Stock # |
R6577 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
98873006-98873842 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 102691130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 291
(N291S)
|
| 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: N291S
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000066901
Gene: ENSMUSG00000034520
AA Change: N291S
| 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: N291S
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000090228
Gene: ENSMUSG00000034520
AA Change: N291S
| 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: N291S
PolyPhen 2
Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000102690
Gene: ENSMUSG00000034520
AA Change: N291S
| 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 |
0.0672 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 93.1%
|
| Validation Efficiency |
97% (38/39) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Api5 |
T |
C |
2: 94,252,726 (GRCm39) |
Y348C |
probably benign |
Het |
| Ark2n |
T |
C |
18: 77,740,855 (GRCm39) |
T285A |
probably benign |
Het |
| Arl14 |
A |
G |
3: 69,130,405 (GRCm39) |
E184G |
probably benign |
Het |
| Asap3 |
T |
C |
4: 135,965,541 (GRCm39) |
|
probably null |
Het |
| Atp11b |
T |
A |
3: 35,893,311 (GRCm39) |
V36E |
probably damaging |
Het |
| Atp13a4 |
C |
T |
16: 29,298,659 (GRCm39) |
S100N |
probably benign |
Het |
| Cd27 |
T |
C |
6: 125,213,756 (GRCm39) |
T34A |
probably benign |
Het |
| Clec10a |
T |
C |
11: 70,061,436 (GRCm39) |
S274P |
probably benign |
Het |
| Cntnap2 |
C |
T |
6: 46,147,206 (GRCm39) |
T484I |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracd |
A |
T |
5: 77,013,947 (GRCm39) |
|
probably benign |
Het |
| Def8 |
T |
C |
8: 124,183,449 (GRCm39) |
S304P |
probably benign |
Het |
| Dgkd |
G |
A |
1: 87,867,962 (GRCm39) |
V299M |
probably damaging |
Het |
| Ephb2 |
T |
C |
4: 136,384,861 (GRCm39) |
D850G |
probably damaging |
Het |
| Hc |
T |
C |
2: 34,922,138 (GRCm39) |
I563V |
probably benign |
Het |
| Hells |
C |
T |
19: 38,919,909 (GRCm39) |
Q20* |
probably null |
Het |
| Hid1 |
G |
C |
11: 115,245,462 (GRCm39) |
P448A |
possibly damaging |
Het |
| Igkv8-24 |
C |
T |
6: 70,193,947 (GRCm39) |
R87H |
possibly damaging |
Het |
| Irf6 |
A |
G |
1: 192,851,662 (GRCm39) |
S418G |
probably damaging |
Het |
| Kcnv2 |
T |
A |
19: 27,301,420 (GRCm39) |
C424S |
possibly damaging |
Het |
| Lmln |
T |
A |
16: 32,927,370 (GRCm39) |
|
probably null |
Het |
| Myo1a |
A |
T |
10: 127,551,189 (GRCm39) |
I678F |
possibly damaging |
Het |
| Nup98 |
A |
C |
7: 101,778,053 (GRCm39) |
|
probably null |
Het |
| Papolg |
GGACTTGGGATACTTACGCTTTG |
GG |
11: 23,829,857 (GRCm39) |
|
probably benign |
Het |
| Ppfibp1 |
T |
A |
6: 146,901,153 (GRCm39) |
|
probably null |
Het |
| Sardh |
T |
C |
2: 27,108,867 (GRCm39) |
T623A |
possibly damaging |
Het |
| Scml4 |
A |
G |
10: 42,823,107 (GRCm39) |
N251D |
probably damaging |
Het |
| Skap1 |
T |
C |
11: 96,416,870 (GRCm39) |
Y52H |
probably damaging |
Het |
| Srp68 |
G |
A |
11: 116,156,290 (GRCm39) |
R113W |
probably damaging |
Het |
| Srsf12 |
T |
C |
4: 33,209,196 (GRCm39) |
|
probably benign |
Het |
| Stat5b |
A |
G |
11: 100,688,526 (GRCm39) |
M312T |
probably benign |
Het |
| Tma7 |
T |
C |
9: 108,911,262 (GRCm39) |
|
probably benign |
Het |
| Tmem120b |
T |
G |
5: 123,254,710 (GRCm39) |
F304V |
probably damaging |
Het |
| Tns3 |
G |
A |
11: 8,499,057 (GRCm39) |
L9F |
probably damaging |
Het |
| Tns3 |
G |
T |
11: 8,499,058 (GRCm39) |
D8E |
probably damaging |
Het |
| Tsc2 |
C |
T |
17: 24,829,473 (GRCm39) |
A765T |
probably damaging |
Het |
| Tut7 |
C |
T |
13: 59,955,975 (GRCm39) |
C45Y |
probably damaging |
Het |
| Uba1y |
A |
G |
Y: 825,465 (GRCm39) |
I276V |
probably benign |
Homo |
| Upb1 |
T |
G |
10: 75,248,723 (GRCm39) |
L81R |
probably damaging |
Het |
| Uros |
C |
A |
7: 133,302,569 (GRCm39) |
C73F |
probably damaging |
Het |
| Zfp820 |
T |
C |
17: 22,038,384 (GRCm39) |
I315V |
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 |
|
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 |
|
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'- TTCTTTTCCCGAGGACCATGG -3'
(R):5'- TGTATGGTGTCACAGGCCTC -3'
Sequencing Primer
(F):5'- GATTGCTAGGTCCAAGCGTTCC -3'
(R):5'- CTGCCTATTGCTTAACATTTGGGAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation