Incidental Mutation 'IGL01973:Jcad'
| ID |
182612 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01973
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4675514 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 1092
(Q1092R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: Q1092R
PolyPhen 2
Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: Q1092R
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
A |
G |
12: 17,061,172 (GRCm39) |
W59R |
probably damaging |
Het |
| Adam17 |
C |
T |
12: 21,399,944 (GRCm39) |
R154K |
probably damaging |
Het |
| Ajm1 |
G |
T |
2: 25,469,584 (GRCm39) |
S109* |
probably null |
Het |
| Atp9b |
A |
T |
18: 80,801,518 (GRCm39) |
F791I |
probably benign |
Het |
| Atr |
T |
G |
9: 95,753,727 (GRCm39) |
S776R |
probably damaging |
Het |
| AW554918 |
A |
T |
18: 25,553,056 (GRCm39) |
T487S |
probably damaging |
Het |
| Bckdhb |
T |
A |
9: 83,873,789 (GRCm39) |
F217Y |
probably benign |
Het |
| Cacna1i |
G |
A |
15: 80,266,234 (GRCm39) |
A1574T |
probably damaging |
Het |
| Ccdc150 |
G |
A |
1: 54,339,647 (GRCm39) |
|
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,593 (GRCm39) |
|
noncoding transcript |
Het |
| Clec4a1 |
T |
C |
6: 122,907,680 (GRCm39) |
S123P |
probably damaging |
Het |
| Col6a4 |
T |
C |
9: 105,940,093 (GRCm39) |
Y1279C |
probably damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,626 (GRCm39) |
M1K |
probably null |
Het |
| Crat |
G |
T |
2: 30,295,493 (GRCm39) |
S370Y |
probably damaging |
Het |
| Cts7 |
A |
T |
13: 61,503,414 (GRCm39) |
D183E |
probably benign |
Het |
| Cyp1a2 |
C |
A |
9: 57,589,678 (GRCm39) |
W45C |
probably damaging |
Het |
| Eml5 |
T |
A |
12: 98,829,539 (GRCm39) |
I492L |
probably benign |
Het |
| Fbxl4 |
T |
G |
4: 22,422,766 (GRCm39) |
L456R |
probably damaging |
Het |
| Flt1 |
G |
T |
5: 147,620,699 (GRCm39) |
H148Q |
probably benign |
Het |
| Galnt3 |
T |
C |
2: 65,914,606 (GRCm39) |
M604V |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,518,731 (GRCm39) |
V279A |
probably damaging |
Het |
| Heatr1 |
C |
A |
13: 12,444,680 (GRCm39) |
H1543Q |
probably benign |
Het |
| Ighg2b |
C |
T |
12: 113,271,305 (GRCm39) |
V83I |
unknown |
Het |
| Kirrel3 |
A |
G |
9: 34,927,764 (GRCm39) |
E6G |
probably damaging |
Het |
| Klhl22 |
A |
G |
16: 17,610,575 (GRCm39) |
S609G |
probably benign |
Het |
| Kntc1 |
A |
G |
5: 123,904,021 (GRCm39) |
Y346C |
probably damaging |
Het |
| Maneal |
T |
C |
4: 124,752,948 (GRCm39) |
D233G |
probably benign |
Het |
| Mcm3ap |
T |
C |
10: 76,306,951 (GRCm39) |
S355P |
probably benign |
Het |
| Mtus2 |
C |
T |
5: 148,240,286 (GRCm39) |
|
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,575,383 (GRCm39) |
T1380A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,644,216 (GRCm39) |
M661K |
possibly damaging |
Het |
| Nomo1 |
T |
C |
7: 45,732,651 (GRCm39) |
|
probably benign |
Het |
| Ntmt2 |
A |
G |
1: 163,544,689 (GRCm39) |
I98T |
probably benign |
Het |
| Ntsr2 |
T |
A |
12: 16,706,775 (GRCm39) |
W268R |
probably benign |
Het |
| Nup188 |
A |
C |
2: 30,229,862 (GRCm39) |
Q1360P |
possibly damaging |
Het |
| Or2c1 |
A |
T |
16: 3,657,641 (GRCm39) |
Q268L |
probably damaging |
Het |
| Or6k6 |
A |
G |
1: 173,945,099 (GRCm39) |
F161S |
probably damaging |
Het |
| Pabpc1 |
A |
T |
15: 36,599,519 (GRCm39) |
V392E |
probably benign |
Het |
| Pcdhb11 |
C |
A |
18: 37,556,565 (GRCm39) |
R632S |
probably damaging |
Het |
| Phf11 |
A |
G |
14: 59,488,578 (GRCm39) |
V73A |
probably benign |
Het |
| Pnpla6 |
T |
A |
8: 3,567,619 (GRCm39) |
M87K |
probably damaging |
Het |
| Prkd1 |
C |
T |
12: 50,413,162 (GRCm39) |
G670R |
probably damaging |
Het |
| Raf1 |
G |
A |
6: 115,653,530 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
T |
A |
3: 78,999,116 (GRCm39) |
|
probably null |
Het |
| Rnf215 |
A |
T |
11: 4,086,615 (GRCm39) |
H164L |
probably damaging |
Het |
| Slc24a3 |
T |
C |
2: 145,086,947 (GRCm39) |
V19A |
probably benign |
Het |
| Tbc1d16 |
A |
T |
11: 119,047,533 (GRCm39) |
V396E |
probably benign |
Het |
| Tecpr1 |
T |
C |
5: 144,134,806 (GRCm39) |
|
probably benign |
Het |
| Thap12 |
T |
A |
7: 98,365,706 (GRCm39) |
Y625N |
possibly damaging |
Het |
| Tshz2 |
A |
T |
2: 169,726,603 (GRCm39) |
M400L |
probably damaging |
Het |
| Ttc28 |
A |
G |
5: 111,372,101 (GRCm39) |
Y850C |
possibly damaging |
Het |
| Ugt1a7c |
A |
G |
1: 88,022,856 (GRCm39) |
D5G |
probably benign |
Het |
| Vmn2r10 |
C |
T |
5: 109,143,543 (GRCm39) |
M802I |
probably damaging |
Het |
| Washc4 |
T |
C |
10: 83,391,973 (GRCm39) |
Y220H |
probably damaging |
Het |
| Zfhx3 |
T |
A |
8: 109,673,825 (GRCm39) |
M1625K |
probably damaging |
Het |
| Zfp677 |
T |
A |
17: 21,617,169 (GRCm39) |
N75K |
probably damaging |
Het |
| Zzz3 |
T |
C |
3: 152,134,007 (GRCm39) |
V355A |
probably benign |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation