Incidental Mutation 'R9173:Jcad'
| ID |
696562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
068947-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9173 (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 A
at 4675820 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 1194
(V1194E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: V1194E
PolyPhen 2
Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: V1194E
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1a |
G |
T |
9: 119,170,190 (GRCm39) |
|
probably benign |
Het |
| Clstn1 |
A |
G |
4: 149,710,564 (GRCm39) |
T79A |
probably benign |
Het |
| Cpd |
C |
T |
11: 76,699,649 (GRCm39) |
R634Q |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,896,939 (GRCm39) |
D753G |
probably damaging |
Het |
| Cyp51 |
T |
C |
5: 4,136,504 (GRCm39) |
N430S |
probably benign |
Het |
| Dnajc17 |
A |
T |
2: 119,009,894 (GRCm39) |
V244D |
probably benign |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Dysf |
A |
G |
6: 84,171,379 (GRCm39) |
K1796E |
probably benign |
Het |
| Eftud2 |
A |
T |
11: 102,734,242 (GRCm39) |
V659E |
probably damaging |
Het |
| Ercc4 |
G |
A |
16: 12,939,973 (GRCm39) |
A168T |
possibly damaging |
Het |
| Exd2 |
T |
C |
12: 80,536,236 (GRCm39) |
Y289H |
probably benign |
Het |
| Fat2 |
C |
A |
11: 55,169,763 (GRCm39) |
V2999L |
probably damaging |
Het |
| Fgd5 |
T |
C |
6: 92,044,584 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,389 (GRCm39) |
S422P |
possibly damaging |
Het |
| H2bc21 |
T |
C |
3: 96,128,615 (GRCm39) |
V45A |
possibly damaging |
Het |
| H2-Eb2 |
A |
G |
17: 34,552,491 (GRCm39) |
D112G |
probably benign |
Het |
| Herc2 |
A |
T |
7: 55,856,350 (GRCm39) |
R3929S |
probably damaging |
Het |
| Hrc |
G |
A |
7: 44,986,799 (GRCm39) |
|
probably null |
Het |
| Ighv5-8 |
T |
A |
12: 113,618,681 (GRCm39) |
V32D |
probably benign |
Het |
| Itgal |
G |
T |
7: 126,896,789 (GRCm39) |
|
probably null |
Het |
| Kat8 |
A |
G |
7: 127,511,863 (GRCm39) |
T54A |
probably benign |
Het |
| Kcnu1 |
G |
A |
8: 26,390,074 (GRCm39) |
|
probably null |
Het |
| Klk15 |
C |
T |
7: 43,587,790 (GRCm39) |
H73Y |
possibly damaging |
Het |
| Lama1 |
A |
G |
17: 68,076,597 (GRCm39) |
T1124A |
|
Het |
| Lrp2 |
T |
A |
2: 69,299,731 (GRCm39) |
D3107V |
probably damaging |
Het |
| Map6 |
G |
A |
7: 98,917,935 (GRCm39) |
R236H |
probably damaging |
Het |
| Mycbpap |
T |
A |
11: 94,397,209 (GRCm39) |
N64I |
probably damaging |
Het |
| Nop14 |
A |
G |
5: 34,806,776 (GRCm39) |
S443P |
probably damaging |
Het |
| Nxn |
T |
C |
11: 76,149,560 (GRCm39) |
D380G |
possibly damaging |
Het |
| Or1e28-ps1 |
T |
A |
11: 73,615,734 (GRCm39) |
I39F |
possibly damaging |
Het |
| Patj |
A |
T |
4: 98,526,958 (GRCm39) |
M1390L |
probably benign |
Het |
| Pcyox1l |
A |
G |
18: 61,830,663 (GRCm39) |
L403P |
probably damaging |
Het |
| Peg10 |
T |
TCCC |
6: 4,756,451 (GRCm39) |
|
probably benign |
Het |
| Pkhd1l1 |
A |
G |
15: 44,384,152 (GRCm39) |
S1181G |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,220,520 (GRCm39) |
I76N |
possibly damaging |
Het |
| Relch |
A |
G |
1: 105,678,128 (GRCm39) |
E1151G |
probably benign |
Het |
| Rnft1 |
T |
C |
11: 86,377,001 (GRCm39) |
S22P |
probably benign |
Het |
| Sec31a |
T |
C |
5: 100,529,147 (GRCm39) |
T733A |
possibly damaging |
Het |
| Serpina1c |
A |
G |
12: 103,862,328 (GRCm39) |
I329T |
possibly damaging |
Het |
| Slco1a4 |
T |
C |
6: 141,761,299 (GRCm39) |
D438G |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,377,285 (GRCm39) |
C438Y |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,220,753 (GRCm39) |
I566F |
possibly damaging |
Het |
| Spata31e5 |
T |
A |
1: 28,816,430 (GRCm39) |
E534V |
probably benign |
Het |
| Spata7 |
T |
A |
12: 98,603,853 (GRCm39) |
S73R |
probably damaging |
Het |
| Stau2 |
G |
A |
1: 16,444,933 (GRCm39) |
R332* |
probably null |
Het |
| Sytl3 |
T |
C |
17: 7,000,471 (GRCm39) |
F419L |
probably damaging |
Het |
| Tet1 |
A |
C |
10: 62,676,065 (GRCm39) |
D670E |
probably benign |
Het |
| Trafd1 |
T |
C |
5: 121,516,598 (GRCm39) |
R202G |
possibly damaging |
Het |
| Tubal3 |
A |
T |
13: 3,983,050 (GRCm39) |
T277S |
possibly damaging |
Het |
| Ube4b |
A |
G |
4: 149,415,933 (GRCm39) |
F1054L |
probably damaging |
Het |
| Unc13b |
C |
A |
4: 43,177,421 (GRCm39) |
Q2750K |
unknown |
Het |
| Usp29 |
T |
C |
7: 6,964,636 (GRCm39) |
S160P |
possibly damaging |
Het |
| Vmn2r114 |
A |
T |
17: 23,510,527 (GRCm39) |
I651N |
probably damaging |
Het |
| Ypel1 |
A |
T |
16: 16,915,298 (GRCm39) |
C103* |
probably null |
Het |
| Zfp11 |
A |
T |
5: 129,734,891 (GRCm39) |
I190N |
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 |
|
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 |
|
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'- CTTCTATGGCAGGAGGAAGTG -3'
(R):5'- GAAAGCCAGGCTGAACTTTTG -3'
Sequencing Primer
(F):5'- AAGTGTGGCTGGACTGAGAGTC -3'
(R):5'- AGCCAGGCTGAACTTTTGATGAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation