Incidental Mutation 'R6661:Jcad'
| ID |
526859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
044781-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6661 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 4675256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Aspartic acid
at position 1006
(G1006D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037029
AA Change: G1006D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: G1006D
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.8%
|
| Validation Efficiency |
93% (38/41) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amy2a1 |
T |
C |
3: 113,325,363 (GRCm39) |
Y77C |
probably damaging |
Het |
| Ankrd9 |
C |
A |
12: 110,944,202 (GRCm39) |
|
probably benign |
Het |
| Arhgap28 |
C |
A |
17: 68,152,746 (GRCm39) |
W675L |
probably damaging |
Het |
| Arhgap44 |
A |
G |
11: 64,900,834 (GRCm39) |
S595P |
probably damaging |
Het |
| Brd10 |
A |
T |
19: 29,700,864 (GRCm39) |
H741Q |
possibly damaging |
Het |
| Cacna1d |
C |
A |
14: 29,811,832 (GRCm39) |
D1273Y |
probably damaging |
Het |
| Ccr4 |
T |
C |
9: 114,325,031 (GRCm39) |
|
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,803,135 (GRCm39) |
V2468A |
probably damaging |
Het |
| Chd2 |
T |
C |
7: 73,140,230 (GRCm39) |
E666G |
possibly damaging |
Het |
| Ctnnd1 |
C |
A |
2: 84,439,986 (GRCm39) |
V775L |
probably damaging |
Het |
| Cux2 |
C |
A |
5: 122,007,360 (GRCm39) |
R767L |
probably benign |
Het |
| Decr2 |
A |
G |
17: 26,302,561 (GRCm39) |
L217S |
possibly damaging |
Het |
| Dennd4c |
T |
A |
4: 86,717,626 (GRCm39) |
M541K |
possibly damaging |
Het |
| Dnah7a |
T |
C |
1: 53,662,609 (GRCm39) |
R651G |
probably benign |
Het |
| Fbrsl1 |
A |
T |
5: 110,525,963 (GRCm39) |
F80I |
probably damaging |
Het |
| Fmnl2 |
C |
A |
2: 52,998,297 (GRCm39) |
P554Q |
probably damaging |
Het |
| Gapvd1 |
C |
T |
2: 34,618,450 (GRCm39) |
D308N |
probably damaging |
Het |
| Gatb |
A |
G |
3: 85,559,726 (GRCm39) |
|
probably null |
Het |
| Krt1c |
A |
G |
15: 101,724,398 (GRCm39) |
Y289H |
probably damaging |
Het |
| Lrrc52 |
A |
G |
1: 167,293,922 (GRCm39) |
F121S |
probably damaging |
Het |
| Lrrc63 |
G |
A |
14: 75,362,633 (GRCm39) |
T299I |
unknown |
Het |
| Magi1 |
T |
C |
6: 93,920,289 (GRCm39) |
N109S |
probably benign |
Het |
| Mbd4 |
C |
A |
6: 115,826,116 (GRCm39) |
E271* |
probably null |
Het |
| Meis2 |
T |
A |
2: 115,694,751 (GRCm39) |
D457V |
probably damaging |
Het |
| Mroh8 |
A |
G |
2: 157,067,547 (GRCm39) |
V604A |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,593,377 (GRCm39) |
V150E |
probably damaging |
Het |
| Nes |
A |
G |
3: 87,884,243 (GRCm39) |
E790G |
probably damaging |
Het |
| Or8h8 |
T |
C |
2: 86,753,492 (GRCm39) |
N128S |
probably benign |
Het |
| Pik3c2a |
T |
C |
7: 115,967,993 (GRCm39) |
I834V |
possibly damaging |
Het |
| Plxnb1 |
T |
C |
9: 108,933,367 (GRCm39) |
C666R |
possibly damaging |
Het |
| Prg2 |
T |
C |
2: 84,813,620 (GRCm39) |
|
probably null |
Het |
| Selenbp2 |
A |
G |
3: 94,609,821 (GRCm39) |
D257G |
probably damaging |
Het |
| Slf1 |
T |
C |
13: 77,191,964 (GRCm39) |
R957G |
probably damaging |
Het |
| Smim10l1 |
T |
A |
6: 133,082,513 (GRCm39) |
M46K |
possibly damaging |
Het |
| Sptbn5 |
T |
C |
2: 119,902,856 (GRCm39) |
Y50C |
possibly damaging |
Het |
| Tcea1 |
A |
G |
1: 4,928,652 (GRCm39) |
|
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,385,842 (GRCm39) |
E234G |
probably damaging |
Het |
| Tmbim4 |
T |
C |
10: 120,060,556 (GRCm39) |
V181A |
probably benign |
Het |
| Trappc9 |
A |
G |
15: 72,461,993 (GRCm39) |
S1091P |
possibly damaging |
Het |
| Txnrd3 |
T |
A |
6: 89,631,134 (GRCm39) |
C143* |
probably null |
Het |
| Ushbp1 |
C |
T |
8: 71,843,305 (GRCm39) |
C314Y |
unknown |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGAAGCCTGACTGCAGAG -3'
(R):5'- TGCAGAGACTCACTTGGAAGG -3'
Sequencing Primer
(F):5'- CCAGGAGGATTTGAATGGGATGTG -3'
(R):5'- AAGGACTTCCACGGTGTTC -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation