Incidental Mutation 'R5825:Jcad'
ID |
450147 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jcad
|
Ensembl Gene |
ENSMUSG00000033960 |
Gene Name |
junctional cadherin 5 associated |
Synonyms |
9430020K01Rik |
MMRRC Submission |
044053-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5825 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 4674896 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 886
(V886E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
AlphaFold |
Q5DTX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: V886E
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000038613 Gene: ENSMUSG00000033960 AA Change: V886E
Domain | Start | End | E-Value | Type |
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.1%
- 10x: 95.3%
- 20x: 83.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A1bg |
A |
T |
15: 60,791,976 (GRCm39) |
Y217* |
probably null |
Het |
Abca2 |
A |
T |
2: 25,326,748 (GRCm39) |
I567F |
probably benign |
Het |
Acss2 |
T |
A |
2: 155,391,098 (GRCm39) |
|
probably null |
Het |
Atxn7l2 |
C |
A |
3: 108,112,127 (GRCm39) |
A320S |
probably damaging |
Het |
Bfsp1 |
C |
T |
2: 143,669,379 (GRCm39) |
G400D |
probably benign |
Het |
Ces5a |
G |
T |
8: 94,252,295 (GRCm39) |
A199D |
probably damaging |
Het |
Cfhr4 |
T |
A |
1: 139,702,336 (GRCm39) |
|
probably null |
Het |
Chd2 |
A |
T |
7: 73,134,350 (GRCm39) |
|
probably null |
Het |
Crebbp |
A |
G |
16: 3,905,606 (GRCm39) |
V1705A |
probably damaging |
Het |
Cyp2j8 |
T |
A |
4: 96,395,451 (GRCm39) |
Q58L |
probably benign |
Het |
Dlec1 |
T |
A |
9: 118,972,036 (GRCm39) |
I1379N |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 66,017,427 (GRCm39) |
H593R |
probably benign |
Het |
Ep300 |
T |
A |
15: 81,495,673 (GRCm39) |
C412S |
probably benign |
Het |
Fam110a |
A |
G |
2: 151,811,961 (GRCm39) |
S270P |
probably damaging |
Het |
Gcc2 |
A |
G |
10: 58,130,643 (GRCm39) |
T1412A |
probably damaging |
Het |
Helz2 |
T |
C |
2: 180,874,449 (GRCm39) |
E2015G |
probably benign |
Het |
Hormad1 |
T |
C |
3: 95,469,870 (GRCm39) |
V39A |
probably damaging |
Het |
Igf2 |
G |
T |
7: 142,207,592 (GRCm39) |
H168Q |
probably damaging |
Het |
Il18rap |
A |
G |
1: 40,570,726 (GRCm39) |
T223A |
probably benign |
Het |
Itpr2 |
T |
C |
6: 146,045,647 (GRCm39) |
E2573G |
probably damaging |
Het |
Klra1 |
T |
C |
6: 130,357,592 (GRCm39) |
R12G |
probably damaging |
Het |
Lamb1 |
A |
G |
12: 31,368,613 (GRCm39) |
I1248V |
probably benign |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mapk7 |
C |
T |
11: 61,381,207 (GRCm39) |
R465Q |
possibly damaging |
Het |
Mogs |
T |
C |
6: 83,095,193 (GRCm39) |
V670A |
possibly damaging |
Het |
Mroh2a |
C |
T |
1: 88,158,402 (GRCm39) |
R150* |
probably null |
Het |
Ninl |
A |
T |
2: 150,782,644 (GRCm39) |
I1182N |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,510,114 (GRCm39) |
|
probably null |
Het |
Nynrin |
A |
G |
14: 56,101,683 (GRCm39) |
R451G |
probably benign |
Het |
Or12e7 |
A |
G |
2: 87,287,794 (GRCm39) |
D95G |
probably benign |
Het |
Or5h22 |
T |
C |
16: 58,895,024 (GRCm39) |
I140V |
probably benign |
Het |
Osbp |
A |
G |
19: 11,948,085 (GRCm39) |
T131A |
probably damaging |
Het |
Pcdhga12 |
A |
C |
18: 37,901,556 (GRCm39) |
D796A |
possibly damaging |
Het |
Pcdhgb8 |
G |
A |
18: 37,895,289 (GRCm39) |
V120I |
probably benign |
Het |
Pdgfb |
A |
T |
15: 79,881,869 (GRCm39) |
V213E |
probably benign |
Het |
Phldb2 |
T |
C |
16: 45,583,460 (GRCm39) |
M1013V |
probably benign |
Het |
Pnma8a |
A |
G |
7: 16,695,020 (GRCm39) |
S292G |
probably benign |
Het |
Prrt4 |
A |
G |
6: 29,177,182 (GRCm39) |
S196P |
probably benign |
Het |
Rap1gds1 |
T |
C |
3: 138,661,136 (GRCm39) |
M463V |
possibly damaging |
Het |
Tmprss11g |
A |
T |
5: 86,646,392 (GRCm39) |
S58R |
probably damaging |
Het |
Traf3 |
C |
A |
12: 111,221,795 (GRCm39) |
Q319K |
probably benign |
Het |
Trappc8 |
C |
T |
18: 21,006,977 (GRCm39) |
V194M |
probably damaging |
Het |
Tyw1 |
A |
G |
5: 130,296,929 (GRCm39) |
K182R |
probably damaging |
Het |
Usp48 |
A |
G |
4: 137,350,689 (GRCm39) |
T585A |
probably benign |
Het |
Xkr6 |
G |
T |
14: 64,056,481 (GRCm39) |
V387L |
probably benign |
Het |
Yod1 |
T |
C |
1: 130,646,743 (GRCm39) |
W207R |
probably damaging |
Het |
Zdhhc8 |
T |
C |
16: 18,046,538 (GRCm39) |
S63G |
probably null |
Het |
Zfp827 |
A |
G |
8: 79,905,645 (GRCm39) |
E874G |
probably damaging |
Het |
Zfy1 |
T |
A |
Y: 726,531 (GRCm39) |
K411N |
possibly damaging |
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 |
|
IGL02625:Jcad
|
APN |
18 |
4,674,422 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CGGCCCTGGGATTTGATAAGTC -3'
(R):5'- GCTAAAGTCTCGCTCACACATC -3'
Sequencing Primer
(F):5'- CCCTGGGATTTGATAAGTCAGTTAG -3'
(R):5'- ACATCCCATTCAAATCCTCCTGG -3'
|
Posted On |
2016-12-20 |