Incidental Mutation 'IGL02625:Jcad'
ID |
301025 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Jcad
|
Ensembl Gene |
ENSMUSG00000033960 |
Gene Name |
junctional cadherin 5 associated |
Synonyms |
9430020K01Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02625
|
Quality Score |
|
Status
|
|
Chromosome |
18 |
Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4674422 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 728
(E728G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
AlphaFold |
Q5DTX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: E728G
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000038613 Gene: ENSMUSG00000033960 AA Change: E728G
Domain | Start | End | E-Value | Type |
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alg6 |
T |
A |
4: 99,634,584 (GRCm39) |
C109S |
probably damaging |
Het |
Arhgdia |
C |
A |
11: 120,471,039 (GRCm39) |
E53D |
probably benign |
Het |
Ccr4 |
A |
C |
9: 114,321,401 (GRCm39) |
C221W |
probably damaging |
Het |
Ces2a |
G |
A |
8: 105,466,910 (GRCm39) |
|
probably null |
Het |
Chpf2 |
G |
T |
5: 24,796,709 (GRCm39) |
E552* |
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dnmt1 |
C |
T |
9: 20,838,442 (GRCm39) |
R207H |
probably benign |
Het |
Dock2 |
A |
G |
11: 34,451,168 (GRCm39) |
|
probably null |
Het |
Esr1 |
A |
T |
10: 4,951,346 (GRCm39) |
T575S |
probably benign |
Het |
Fancc |
A |
G |
13: 63,545,965 (GRCm39) |
C93R |
probably damaging |
Het |
Foxj3 |
A |
T |
4: 119,482,114 (GRCm39) |
R523W |
unknown |
Het |
Fryl |
C |
T |
5: 73,227,220 (GRCm39) |
|
probably benign |
Het |
Fsip2 |
A |
C |
2: 82,779,836 (GRCm39) |
H194P |
probably benign |
Het |
Gaa |
G |
A |
11: 119,165,559 (GRCm39) |
V350I |
probably damaging |
Het |
Gpn3 |
T |
A |
5: 122,519,257 (GRCm39) |
I152N |
probably damaging |
Het |
H2-M10.3 |
T |
A |
17: 36,678,417 (GRCm39) |
H136L |
probably benign |
Het |
H4c16 |
C |
T |
6: 136,781,335 (GRCm39) |
|
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,239,953 (GRCm39) |
D507G |
probably damaging |
Het |
Kat14 |
G |
A |
2: 144,244,365 (GRCm39) |
R406H |
possibly damaging |
Het |
Kcnma1 |
G |
T |
14: 23,413,900 (GRCm39) |
D863E |
probably damaging |
Het |
Lrp1 |
A |
G |
10: 127,410,355 (GRCm39) |
Y1464H |
probably damaging |
Het |
Map4 |
T |
C |
9: 109,893,485 (GRCm39) |
S584P |
probably damaging |
Het |
Nlrp4f |
G |
A |
13: 65,347,085 (GRCm39) |
L58F |
probably damaging |
Het |
Nlrp6 |
A |
G |
7: 140,503,413 (GRCm39) |
I506M |
probably benign |
Het |
Nudt17 |
G |
A |
3: 96,613,780 (GRCm39) |
R266W |
probably damaging |
Het |
Or4a47 |
A |
G |
2: 89,665,740 (GRCm39) |
L183P |
probably damaging |
Het |
Or4a69 |
A |
G |
2: 89,313,018 (GRCm39) |
S154P |
probably damaging |
Het |
Or52h9 |
A |
G |
7: 104,202,780 (GRCm39) |
Y218C |
probably damaging |
Het |
Plcb4 |
A |
G |
2: 135,803,714 (GRCm39) |
E529G |
probably benign |
Het |
Prss32 |
A |
T |
17: 24,075,210 (GRCm39) |
I187F |
possibly damaging |
Het |
Prss55 |
A |
T |
14: 64,316,818 (GRCm39) |
I108K |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,095,741 (GRCm39) |
M109V |
probably benign |
Het |
Rho |
A |
T |
6: 115,912,158 (GRCm39) |
M207L |
possibly damaging |
Het |
Slc12a1 |
A |
G |
2: 125,012,611 (GRCm39) |
D291G |
probably damaging |
Het |
Slco2b1 |
A |
C |
7: 99,309,330 (GRCm39) |
|
probably null |
Het |
Stx11 |
T |
A |
10: 12,817,661 (GRCm39) |
D21V |
possibly damaging |
Het |
Svep1 |
T |
A |
4: 58,115,807 (GRCm39) |
Y962F |
possibly damaging |
Het |
Tbx5 |
G |
T |
5: 119,974,972 (GRCm39) |
|
probably benign |
Het |
Tcf12 |
C |
A |
9: 71,830,039 (GRCm39) |
G141W |
probably damaging |
Het |
Tmtc2 |
A |
G |
10: 105,206,407 (GRCm39) |
M296T |
probably damaging |
Het |
Trim13 |
T |
A |
14: 61,842,999 (GRCm39) |
S339T |
probably benign |
Het |
Ugt1a7c |
A |
G |
1: 88,023,239 (GRCm39) |
K133E |
possibly damaging |
Het |
Usp40 |
A |
G |
1: 87,877,739 (GRCm39) |
V1050A |
probably benign |
Het |
Vmn2r86 |
T |
G |
10: 130,288,781 (GRCm39) |
N240T |
probably damaging |
Het |
Wdr36 |
T |
C |
18: 32,992,314 (GRCm39) |
V617A |
possibly damaging |
Het |
Wdr38 |
A |
T |
2: 38,888,424 (GRCm39) |
N7I |
probably damaging |
Het |
Wdr6 |
T |
C |
9: 108,452,704 (GRCm39) |
Y393C |
probably damaging |
Het |
Zfp619 |
A |
T |
7: 39,183,609 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Jcad |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00650:Jcad
|
APN |
18 |
4,675,692 (GRCm39) |
missense |
probably benign |
0.14 |
IGL00672:Jcad
|
APN |
18 |
4,674,835 (GRCm39) |
missense |
possibly damaging |
0.77 |
IGL00782:Jcad
|
APN |
18 |
4,675,073 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00825:Jcad
|
APN |
18 |
4,673,516 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01522:Jcad
|
APN |
18 |
4,673,312 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL01796:Jcad
|
APN |
18 |
4,672,855 (GRCm39) |
nonsense |
probably null |
|
IGL01973:Jcad
|
APN |
18 |
4,675,514 (GRCm39) |
missense |
probably benign |
0.21 |
IGL02083:Jcad
|
APN |
18 |
4,680,266 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL03002:Jcad
|
APN |
18 |
4,675,153 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03325:Jcad
|
APN |
18 |
4,673,902 (GRCm39) |
missense |
probably benign |
|
R0304:Jcad
|
UTSW |
18 |
4,673,325 (GRCm39) |
missense |
possibly damaging |
0.75 |
R0487:Jcad
|
UTSW |
18 |
4,673,243 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:Jcad
|
UTSW |
18 |
4,649,122 (GRCm39) |
start gained |
probably benign |
|
R0664:Jcad
|
UTSW |
18 |
4,676,063 (GRCm39) |
missense |
probably damaging |
0.97 |
R1649:Jcad
|
UTSW |
18 |
4,673,309 (GRCm39) |
missense |
probably damaging |
1.00 |
R1710:Jcad
|
UTSW |
18 |
4,674,511 (GRCm39) |
missense |
probably damaging |
1.00 |
R1734:Jcad
|
UTSW |
18 |
4,674,526 (GRCm39) |
missense |
probably damaging |
1.00 |
R1823:Jcad
|
UTSW |
18 |
4,675,780 (GRCm39) |
missense |
probably damaging |
1.00 |
R1824:Jcad
|
UTSW |
18 |
4,649,293 (GRCm39) |
missense |
probably benign |
|
R1850:Jcad
|
UTSW |
18 |
4,675,730 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1872:Jcad
|
UTSW |
18 |
4,673,048 (GRCm39) |
missense |
probably benign |
|
R1878:Jcad
|
UTSW |
18 |
4,673,857 (GRCm39) |
missense |
possibly damaging |
0.60 |
R1918:Jcad
|
UTSW |
18 |
4,674,292 (GRCm39) |
missense |
probably damaging |
1.00 |
R1967:Jcad
|
UTSW |
18 |
4,675,162 (GRCm39) |
missense |
probably benign |
0.07 |
R2420:Jcad
|
UTSW |
18 |
4,675,952 (GRCm39) |
missense |
probably damaging |
1.00 |
R2504:Jcad
|
UTSW |
18 |
4,674,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R2936:Jcad
|
UTSW |
18 |
4,675,153 (GRCm39) |
missense |
probably benign |
0.00 |
R4420:Jcad
|
UTSW |
18 |
4,676,032 (GRCm39) |
missense |
probably benign |
0.00 |
R4668:Jcad
|
UTSW |
18 |
4,680,221 (GRCm39) |
splice site |
probably null |
|
R4670:Jcad
|
UTSW |
18 |
4,674,175 (GRCm39) |
missense |
probably benign |
0.03 |
R4671:Jcad
|
UTSW |
18 |
4,674,175 (GRCm39) |
missense |
probably benign |
0.03 |
R4707:Jcad
|
UTSW |
18 |
4,649,338 (GRCm39) |
nonsense |
probably null |
|
R4720:Jcad
|
UTSW |
18 |
4,674,055 (GRCm39) |
missense |
probably benign |
0.03 |
R4815:Jcad
|
UTSW |
18 |
4,675,223 (GRCm39) |
missense |
possibly damaging |
0.94 |
R4906:Jcad
|
UTSW |
18 |
4,673,762 (GRCm39) |
missense |
probably damaging |
1.00 |
R5214:Jcad
|
UTSW |
18 |
4,674,134 (GRCm39) |
missense |
probably damaging |
1.00 |
R5439:Jcad
|
UTSW |
18 |
4,675,790 (GRCm39) |
missense |
probably damaging |
1.00 |
R5563:Jcad
|
UTSW |
18 |
4,673,944 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5721:Jcad
|
UTSW |
18 |
4,676,044 (GRCm39) |
missense |
possibly damaging |
0.48 |
R5825:Jcad
|
UTSW |
18 |
4,674,896 (GRCm39) |
missense |
probably benign |
0.00 |
R5952:Jcad
|
UTSW |
18 |
4,674,554 (GRCm39) |
missense |
probably damaging |
1.00 |
R6661:Jcad
|
UTSW |
18 |
4,675,256 (GRCm39) |
missense |
probably damaging |
1.00 |
R6928:Jcad
|
UTSW |
18 |
4,673,372 (GRCm39) |
missense |
probably benign |
0.00 |
R7426:Jcad
|
UTSW |
18 |
4,675,529 (GRCm39) |
missense |
probably benign |
0.11 |
R7808:Jcad
|
UTSW |
18 |
4,673,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R7943:Jcad
|
UTSW |
18 |
4,672,700 (GRCm39) |
missense |
probably damaging |
1.00 |
R8010:Jcad
|
UTSW |
18 |
4,674,581 (GRCm39) |
missense |
probably benign |
|
R8080:Jcad
|
UTSW |
18 |
4,649,270 (GRCm39) |
missense |
probably benign |
0.01 |
R8133:Jcad
|
UTSW |
18 |
4,649,384 (GRCm39) |
missense |
probably benign |
0.03 |
R8168:Jcad
|
UTSW |
18 |
4,675,094 (GRCm39) |
missense |
probably benign |
0.00 |
R8232:Jcad
|
UTSW |
18 |
4,674,862 (GRCm39) |
missense |
probably benign |
0.23 |
R8276:Jcad
|
UTSW |
18 |
4,674,318 (GRCm39) |
missense |
probably damaging |
1.00 |
R8408:Jcad
|
UTSW |
18 |
4,649,402 (GRCm39) |
missense |
possibly damaging |
0.55 |
R9173:Jcad
|
UTSW |
18 |
4,675,820 (GRCm39) |
missense |
probably benign |
0.42 |
R9415:Jcad
|
UTSW |
18 |
4,673,912 (GRCm39) |
missense |
probably damaging |
1.00 |
R9571:Jcad
|
UTSW |
18 |
4,673,252 (GRCm39) |
nonsense |
probably null |
|
T0722:Jcad
|
UTSW |
18 |
4,675,531 (GRCm39) |
missense |
probably benign |
0.25 |
X0017:Jcad
|
UTSW |
18 |
4,676,044 (GRCm39) |
missense |
probably benign |
0.01 |
|
Posted On |
2015-04-16 |