Incidental Mutation 'R8133:Jcad'
ID |
632135 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Jcad
|
Ensembl Gene |
ENSMUSG00000033960 |
Gene Name |
junctional cadherin 5 associated |
Synonyms |
9430020K01Rik |
MMRRC Submission |
067561-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8133 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 4649384 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 85
(T85I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
AlphaFold |
Q5DTX6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: T85I
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000038613 Gene: ENSMUSG00000033960 AA Change: T85I
Domain | Start | End | E-Value | Type |
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
Meta Mutation Damage Score |
0.1265 |
Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 96.3%
|
Validation Efficiency |
98% (48/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
A |
T |
11: 110,018,289 (GRCm39) |
S1110R |
possibly damaging |
Het |
Adam15 |
C |
T |
3: 89,254,513 (GRCm39) |
R123Q |
probably benign |
Het |
AI987944 |
A |
G |
7: 41,024,489 (GRCm39) |
|
probably null |
Het |
Ankrd31 |
T |
C |
13: 97,003,003 (GRCm39) |
|
probably null |
Het |
Arfgef3 |
C |
A |
10: 18,486,951 (GRCm39) |
|
probably null |
Het |
Atp6v0c |
C |
T |
17: 24,383,553 (GRCm39) |
S98N |
possibly damaging |
Het |
Camsap1 |
T |
C |
2: 25,824,309 (GRCm39) |
N1417S |
probably damaging |
Het |
Cct7 |
T |
C |
6: 85,438,045 (GRCm39) |
S96P |
probably damaging |
Het |
Cd200l1 |
T |
C |
16: 45,264,304 (GRCm39) |
T85A |
probably benign |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cib4 |
T |
C |
5: 30,691,562 (GRCm39) |
D53G |
probably benign |
Het |
Cntn6 |
T |
A |
6: 104,705,298 (GRCm39) |
S244T |
probably benign |
Het |
Cubn |
G |
T |
2: 13,393,659 (GRCm39) |
D1447E |
probably damaging |
Het |
Ebf3 |
T |
C |
7: 136,914,872 (GRCm39) |
E102G |
probably damaging |
Het |
Elmo1 |
T |
A |
13: 20,557,256 (GRCm39) |
V399E |
probably damaging |
Het |
Etl4 |
A |
G |
2: 20,811,082 (GRCm39) |
E1423G |
possibly damaging |
Het |
Glis3 |
A |
G |
19: 28,327,406 (GRCm39) |
S669P |
probably benign |
Het |
Hipk1 |
T |
C |
3: 103,660,710 (GRCm39) |
T742A |
possibly damaging |
Het |
Igdcc4 |
C |
A |
9: 65,039,023 (GRCm39) |
T890N |
possibly damaging |
Het |
Kmt2d |
T |
C |
15: 98,762,823 (GRCm39) |
K316E |
probably damaging |
Het |
Lrig1 |
T |
C |
6: 94,588,610 (GRCm39) |
D513G |
possibly damaging |
Het |
Lrrn4 |
T |
C |
2: 132,719,934 (GRCm39) |
N289D |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,061,487 (GRCm39) |
M829V |
probably damaging |
Het |
Mib2 |
C |
T |
4: 155,741,458 (GRCm39) |
R495H |
probably benign |
Het |
Nqo2 |
T |
C |
13: 34,169,461 (GRCm39) |
Y228H |
probably benign |
Het |
Nrg2 |
T |
A |
18: 36,165,430 (GRCm39) |
E394V |
probably benign |
Het |
Oas1e |
T |
C |
5: 120,926,060 (GRCm39) |
N336S |
probably benign |
Het |
Obi1 |
G |
T |
14: 104,716,681 (GRCm39) |
S564* |
probably null |
Het |
Or51i2 |
G |
T |
7: 103,689,122 (GRCm39) |
G40W |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,192,065 (GRCm39) |
H307Q |
probably benign |
Het |
Or5b95 |
T |
G |
19: 12,657,844 (GRCm39) |
V124G |
probably damaging |
Het |
Pax4 |
T |
C |
6: 28,442,513 (GRCm39) |
D305G |
probably benign |
Het |
Pcdhb16 |
T |
A |
18: 37,611,185 (GRCm39) |
N48K |
probably damaging |
Het |
Pcdhb20 |
G |
T |
18: 37,639,663 (GRCm39) |
E730* |
probably null |
Het |
Pde4a |
A |
T |
9: 21,102,673 (GRCm39) |
D119V |
possibly damaging |
Het |
Pgam1 |
T |
C |
19: 41,904,149 (GRCm39) |
V82A |
probably benign |
Het |
Phf11a |
C |
T |
14: 59,521,773 (GRCm39) |
G133S |
probably damaging |
Het |
Phlpp1 |
TGCGCGCGCGC |
TGCGCGCGC |
1: 106,100,522 (GRCm39) |
|
probably null |
Het |
Piwil1 |
T |
C |
5: 128,826,914 (GRCm39) |
V558A |
probably damaging |
Het |
Prpf40b |
T |
C |
15: 99,202,319 (GRCm39) |
V59A |
unknown |
Het |
Psd4 |
T |
A |
2: 24,286,701 (GRCm39) |
S353T |
probably benign |
Het |
Ryr2 |
A |
T |
13: 11,618,584 (GRCm39) |
L3877H |
probably damaging |
Het |
S100a2 |
T |
C |
3: 90,498,616 (GRCm39) |
V39A |
possibly damaging |
Het |
Tanc2 |
T |
A |
11: 105,814,048 (GRCm39) |
S1831T |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,465,554 (GRCm39) |
K1904R |
probably damaging |
Het |
Zfp141 |
A |
G |
7: 42,124,481 (GRCm39) |
C664R |
probably 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 |
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 |
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'- GGATACAAACCAGCCCGAGATG -3'
(R):5'- CTCAGATCCCAAATGTAGGCC -3'
Sequencing Primer
(F):5'- GCACCATGTGAGGACAAATC -3'
(R):5'- TGTAGGCCAAGCAAAATTCAGC -3'
|
Posted On |
2020-06-30 |