Incidental Mutation 'R8408:Jcad'
| ID |
652552 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
067815-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8408 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4649402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 91
(A91E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037029
AA Change: A91E
PolyPhen 2
Score 0.550 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: A91E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,236,356 (GRCm39) |
T1236A |
possibly damaging |
Het |
| 9930111J21Rik1 |
A |
T |
11: 48,838,829 (GRCm39) |
M586K |
probably damaging |
Het |
| Adamts4 |
T |
C |
1: 171,080,314 (GRCm39) |
V289A |
possibly damaging |
Het |
| Ankrd44 |
A |
T |
1: 54,762,257 (GRCm39) |
D522E |
probably benign |
Het |
| Asb14 |
A |
G |
14: 26,637,067 (GRCm39) |
Y603C |
probably damaging |
Het |
| Bcl7b |
A |
G |
5: 135,197,308 (GRCm39) |
|
probably benign |
Het |
| Cd5 |
T |
C |
19: 10,700,469 (GRCm39) |
K345R |
possibly damaging |
Het |
| Celsr3 |
T |
C |
9: 108,708,988 (GRCm39) |
F1278S |
probably damaging |
Het |
| Cndp1 |
T |
A |
18: 84,650,049 (GRCm39) |
T215S |
possibly damaging |
Het |
| Crygb |
T |
G |
1: 65,119,709 (GRCm39) |
R90S |
probably damaging |
Het |
| Dlg4 |
T |
A |
11: 69,933,078 (GRCm39) |
F555I |
possibly damaging |
Het |
| Dnah3 |
C |
T |
7: 119,551,728 (GRCm39) |
V2864M |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,070,351 (GRCm39) |
E522G |
probably damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Foxp1 |
G |
A |
6: 98,922,543 (GRCm39) |
P430S |
unknown |
Het |
| Galnt1 |
A |
G |
18: 24,400,628 (GRCm39) |
T245A |
probably benign |
Het |
| Gnl2 |
T |
A |
4: 124,938,082 (GRCm39) |
N287K |
probably damaging |
Het |
| Kat6a |
G |
A |
8: 23,352,275 (GRCm39) |
V20I |
probably damaging |
Het |
| Kcnb2 |
A |
G |
1: 15,781,777 (GRCm39) |
N883S |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,775,750 (GRCm39) |
R205S |
probably damaging |
Het |
| Lrr1 |
A |
G |
12: 69,215,825 (GRCm39) |
T66A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,351,635 (GRCm39) |
I2569F |
unknown |
Het |
| Maip1 |
A |
T |
1: 57,449,102 (GRCm39) |
Q161L |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,047,923 (GRCm39) |
E6699G |
probably benign |
Het |
| Nup205 |
A |
G |
6: 35,202,182 (GRCm39) |
R1305G |
probably damaging |
Het |
| Or1e19 |
T |
A |
11: 73,316,794 (GRCm39) |
N5I |
probably damaging |
Het |
| Or5ac21 |
A |
T |
16: 59,124,418 (GRCm39) |
R301* |
probably null |
Het |
| Pate1 |
G |
A |
9: 35,596,418 (GRCm39) |
R116W |
probably damaging |
Het |
| Pcsk5 |
T |
G |
19: 17,410,809 (GRCm39) |
E1861A |
probably benign |
Het |
| Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
| Per1 |
A |
T |
11: 68,999,953 (GRCm39) |
D1215V |
possibly damaging |
Het |
| Phactr2 |
A |
G |
10: 13,129,570 (GRCm39) |
S233P |
probably damaging |
Het |
| Pramel28 |
A |
G |
4: 143,692,212 (GRCm39) |
V263A |
probably benign |
Het |
| Rgsl1 |
T |
A |
1: 153,701,435 (GRCm39) |
N340Y |
possibly damaging |
Het |
| Rhot1 |
C |
T |
11: 80,114,786 (GRCm39) |
P65S |
probably damaging |
Het |
| Scrn2 |
T |
C |
11: 96,921,869 (GRCm39) |
L113P |
probably damaging |
Het |
| Sema6a |
T |
C |
18: 47,381,958 (GRCm39) |
K863R |
probably benign |
Het |
| Slc15a1 |
A |
G |
14: 121,715,528 (GRCm39) |
V337A |
possibly damaging |
Het |
| Slc25a1 |
T |
C |
16: 17,743,720 (GRCm39) |
D298G |
probably benign |
Het |
| Slc25a22 |
G |
A |
7: 141,011,737 (GRCm39) |
P168S |
probably benign |
Het |
| Slc29a4 |
A |
T |
5: 142,691,109 (GRCm39) |
|
probably null |
Het |
| Slc35d1 |
T |
C |
4: 103,047,007 (GRCm39) |
T264A |
|
Het |
| Spice1 |
T |
C |
16: 44,205,060 (GRCm39) |
S789P |
probably damaging |
Het |
| Sprr2b |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
CTGAGCCTTGTCCTCCTCCAAAGTGCCCTGAGCCTTGTCCTCCCCCAGTATGCTGTGAGCCTTGTCCTCC |
3: 92,224,826 (GRCm39) |
|
probably benign |
Het |
| Tectb |
T |
C |
19: 55,178,099 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
A |
2: 76,544,810 (GRCm39) |
Y32764F |
probably damaging |
Het |
| Utrn |
T |
G |
10: 12,545,887 (GRCm39) |
S1684R |
possibly damaging |
Het |
| Zic1 |
G |
T |
9: 91,246,847 (GRCm39) |
A75E |
probably damaging |
Het |
| Zswim4 |
A |
G |
8: 84,939,014 (GRCm39) |
V956A |
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 |
|
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 |
|
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'- TCAGAGAGATGCAGGTCGAC -3'
(R):5'- TGCTTGCCTTGATGAGACTG -3'
Sequencing Primer
(F):5'- GTCGACAAGGACAGGACCC -3'
(R):5'- CTGTGCTGACTACCACCAG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation