Incidental Mutation 'R9415:Jcad'
| ID |
712020 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9415 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4673912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 558
(L558P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037029
AA Change: L558P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: L558P
| 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: 98.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anapc1 |
A |
G |
2: 128,476,598 (GRCm39) |
M1340T |
probably benign |
Het |
| Arhgef15 |
A |
G |
11: 68,842,233 (GRCm39) |
L457P |
probably damaging |
Het |
| Arih2 |
A |
T |
9: 108,486,986 (GRCm39) |
C317S |
probably damaging |
Het |
| Asb14 |
A |
T |
14: 26,633,793 (GRCm39) |
T333S |
probably damaging |
Het |
| Atp13a4 |
T |
C |
16: 29,227,821 (GRCm39) |
N1012S |
|
Het |
| Capn9 |
C |
A |
8: 125,332,449 (GRCm39) |
D429E |
probably benign |
Het |
| Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
| Cntrob |
C |
T |
11: 69,193,741 (GRCm39) |
R803Q |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 31,029,297 (GRCm39) |
I4089V |
probably benign |
Het |
| Fam162b |
A |
G |
10: 51,466,155 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
A |
G |
18: 25,102,244 (GRCm39) |
D180G |
probably damaging |
Het |
| Gtf3c4 |
A |
G |
2: 28,723,966 (GRCm39) |
S589P |
possibly damaging |
Het |
| Kmt2d |
A |
G |
15: 98,737,586 (GRCm39) |
I5170T |
unknown |
Het |
| Lamb3 |
T |
C |
1: 193,008,319 (GRCm39) |
F251L |
probably benign |
Het |
| Lpxn |
T |
A |
19: 12,802,336 (GRCm39) |
D220E |
probably benign |
Het |
| Mex3a |
T |
A |
3: 88,444,480 (GRCm39) |
F519I |
probably damaging |
Het |
| Mfap1a |
T |
C |
2: 121,337,001 (GRCm39) |
M8V |
probably benign |
Het |
| Mical3 |
T |
A |
6: 120,934,712 (GRCm39) |
D1789V |
probably damaging |
Het |
| Mpdz |
G |
A |
4: 81,235,905 (GRCm39) |
Q1211* |
probably null |
Het |
| Myd88 |
A |
G |
9: 119,167,070 (GRCm39) |
|
probably null |
Het |
| Myof |
T |
A |
19: 37,941,412 (GRCm39) |
K799N |
probably damaging |
Het |
| Naip2 |
T |
A |
13: 100,298,243 (GRCm39) |
S598C |
probably damaging |
Het |
| Ndst4 |
C |
T |
3: 125,518,385 (GRCm39) |
S354L |
probably benign |
Het |
| Ntn4 |
A |
G |
10: 93,480,488 (GRCm39) |
T71A |
probably benign |
Het |
| Omd |
A |
C |
13: 49,745,837 (GRCm39) |
M416L |
probably benign |
Het |
| Oog1 |
G |
C |
12: 87,655,086 (GRCm39) |
L411F |
probably damaging |
Het |
| Or10a3m |
T |
A |
7: 108,313,042 (GRCm39) |
W161R |
probably damaging |
Het |
| Or1e32 |
A |
G |
11: 73,705,143 (GRCm39) |
I255T |
probably damaging |
Het |
| Or56a5 |
T |
G |
7: 104,793,498 (GRCm39) |
M7L |
probably benign |
Het |
| Or7e171-ps1 |
A |
G |
9: 19,853,200 (GRCm39) |
W179R |
probably benign |
Het |
| Pde4dip |
T |
C |
3: 97,660,468 (GRCm39) |
Q670R |
possibly damaging |
Het |
| Pex13 |
C |
A |
11: 23,601,034 (GRCm39) |
G272V |
probably damaging |
Het |
| Pfkl |
A |
T |
10: 77,824,081 (GRCm39) |
V769D |
probably damaging |
Het |
| Pkn3 |
A |
G |
2: 29,968,332 (GRCm39) |
Y10C |
probably benign |
Het |
| Pomgnt1 |
A |
G |
4: 116,013,378 (GRCm39) |
H500R |
probably damaging |
Het |
| Rasef |
T |
C |
4: 73,645,882 (GRCm39) |
T496A |
probably benign |
Het |
| Rgs6 |
A |
G |
12: 83,184,166 (GRCm39) |
S459G |
probably benign |
Het |
| Serpinb6b |
A |
T |
13: 33,159,002 (GRCm39) |
M187L |
|
Het |
| Shcbp1l |
A |
G |
1: 153,321,627 (GRCm39) |
I408M |
possibly damaging |
Het |
| Slc25a45 |
T |
C |
19: 5,934,967 (GRCm39) |
V272A |
probably damaging |
Het |
| Tlr4 |
T |
C |
4: 66,746,160 (GRCm39) |
|
probably null |
Het |
| Unc80 |
A |
T |
1: 66,550,064 (GRCm39) |
N774I |
|
Het |
| Urb2 |
T |
A |
8: 124,756,613 (GRCm39) |
S773R |
possibly damaging |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,115 (GRCm39) |
V185E |
probably damaging |
Het |
| Vps13d |
A |
C |
4: 144,796,527 (GRCm39) |
V3691G |
|
Het |
| Wdtc1 |
A |
G |
4: 133,022,684 (GRCm39) |
V554A |
possibly damaging |
Het |
| Xrn1 |
A |
T |
9: 95,851,527 (GRCm39) |
M182L |
probably damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,198 (GRCm39) |
H324R |
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 |
|
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 |
|
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'- TCACCAGTCAATGAGCAGAGC -3'
(R):5'- TGGAAGACATACTCAGCAGAC -3'
Sequencing Primer
(F):5'- ATTCCAGTCCCCGGTGG -3'
(R):5'- TGCTCCTGCAGGGCTGAAC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation