Incidental Mutation 'R6928:Jcad'
| ID |
539875 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
045045-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6928 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4673372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 378
(V378A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: V378A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: V378A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.5%
|
| Validation Efficiency |
98% (62/63) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcyap1r1 |
A |
G |
6: 55,456,257 (GRCm39) |
D215G |
possibly damaging |
Het |
| Asb3 |
A |
T |
11: 30,948,326 (GRCm39) |
M40L |
probably damaging |
Het |
| Aspg |
G |
A |
12: 112,093,123 (GRCm39) |
V547M |
possibly damaging |
Het |
| Aspm |
T |
A |
1: 139,407,944 (GRCm39) |
L2277* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,484,828 (GRCm39) |
S1295P |
probably benign |
Het |
| Cdca2 |
A |
G |
14: 67,943,193 (GRCm39) |
S199P |
probably damaging |
Het |
| Cdh1 |
A |
G |
8: 107,387,642 (GRCm39) |
E514G |
possibly damaging |
Het |
| Cenpk |
G |
T |
13: 104,365,500 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
C |
A |
9: 105,817,118 (GRCm39) |
V398L |
unknown |
Het |
| Colec10 |
A |
T |
15: 54,326,002 (GRCm39) |
K277N |
probably damaging |
Het |
| Cryzl2 |
T |
G |
1: 157,298,357 (GRCm39) |
S249A |
probably benign |
Het |
| Cspg4 |
T |
A |
9: 56,805,164 (GRCm39) |
Y1992N |
possibly damaging |
Het |
| Drd3 |
G |
T |
16: 43,641,683 (GRCm39) |
R333L |
probably benign |
Het |
| Espl1 |
C |
T |
15: 102,207,342 (GRCm39) |
R269C |
probably benign |
Het |
| Esr2 |
C |
T |
12: 76,212,252 (GRCm39) |
C188Y |
probably damaging |
Het |
| Focad |
A |
G |
4: 88,267,112 (GRCm39) |
D1041G |
unknown |
Het |
| Frem3 |
T |
C |
8: 81,337,911 (GRCm39) |
F68S |
possibly damaging |
Het |
| Gapdh |
A |
G |
6: 125,139,634 (GRCm39) |
V212A |
probably damaging |
Het |
| Gzmb |
T |
C |
14: 56,497,734 (GRCm39) |
K169E |
probably benign |
Het |
| Hexd |
T |
A |
11: 121,102,880 (GRCm39) |
F33I |
possibly damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,718,269 (GRCm39) |
I32V |
probably benign |
Het |
| Kcnmb2 |
T |
C |
3: 32,253,190 (GRCm39) |
S177P |
probably benign |
Het |
| Lrriq1 |
A |
T |
10: 103,050,800 (GRCm39) |
S651T |
possibly damaging |
Het |
| Map3k2 |
T |
C |
18: 32,340,593 (GRCm39) |
|
probably null |
Het |
| Mib1 |
T |
G |
18: 10,802,282 (GRCm39) |
S870A |
probably benign |
Het |
| Moap1 |
T |
A |
12: 102,708,871 (GRCm39) |
N226I |
probably damaging |
Het |
| Moxd1 |
T |
A |
10: 24,176,186 (GRCm39) |
N547K |
probably damaging |
Het |
| Mtmr9 |
A |
G |
14: 63,781,042 (GRCm39) |
V16A |
probably benign |
Het |
| Nme1 |
T |
C |
11: 93,850,229 (GRCm39) |
Y151C |
probably damaging |
Het |
| Nwd1 |
T |
C |
8: 73,408,653 (GRCm39) |
F879L |
probably benign |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or52ac1 |
A |
T |
7: 104,245,796 (GRCm39) |
Y197* |
probably null |
Het |
| Or5ac25 |
C |
A |
16: 59,181,826 (GRCm39) |
G252C |
probably damaging |
Het |
| Or5b102 |
A |
T |
19: 13,041,348 (GRCm39) |
H191L |
probably benign |
Het |
| Or5b99 |
A |
G |
19: 12,977,202 (GRCm39) |
N284S |
probably damaging |
Het |
| Or8d23 |
T |
C |
9: 38,841,862 (GRCm39) |
Y132H |
probably damaging |
Het |
| Or8g21 |
T |
C |
9: 38,905,928 (GRCm39) |
M268V |
probably benign |
Het |
| Pcdhb21 |
A |
G |
18: 37,647,474 (GRCm39) |
E201G |
probably damaging |
Het |
| Plscr1 |
T |
C |
9: 92,152,004 (GRCm39) |
V301A |
possibly damaging |
Het |
| Psg28 |
A |
T |
7: 18,157,003 (GRCm39) |
S411T |
possibly damaging |
Het |
| Rif1 |
T |
C |
2: 51,985,973 (GRCm39) |
W653R |
probably damaging |
Het |
| Rnd3 |
T |
A |
2: 51,022,518 (GRCm39) |
I175L |
probably benign |
Het |
| Rtn4 |
A |
G |
11: 29,656,791 (GRCm39) |
E199G |
possibly damaging |
Het |
| Sgpp1 |
T |
C |
12: 75,763,344 (GRCm39) |
Y279C |
probably damaging |
Het |
| Slc2a13 |
A |
G |
15: 91,160,382 (GRCm39) |
I524T |
probably damaging |
Het |
| Speer4a2 |
A |
G |
5: 26,290,586 (GRCm39) |
|
probably null |
Het |
| Spg11 |
C |
T |
2: 121,900,385 (GRCm39) |
V1556I |
probably benign |
Het |
| Spopfm1 |
T |
A |
3: 94,173,855 (GRCm39) |
C288S |
probably benign |
Het |
| Srebf2 |
C |
T |
15: 82,087,924 (GRCm39) |
R215* |
probably null |
Het |
| Tdpoz8 |
G |
A |
3: 92,981,267 (GRCm39) |
C95Y |
probably damaging |
Het |
| Tmem19 |
T |
C |
10: 115,183,179 (GRCm39) |
N147S |
possibly damaging |
Het |
| Tpr |
T |
C |
1: 150,284,536 (GRCm39) |
S408P |
possibly damaging |
Het |
| Trav13d-4 |
C |
T |
14: 53,310,618 (GRCm39) |
T53I |
probably damaging |
Het |
| Trf |
T |
A |
9: 103,099,307 (GRCm39) |
R168W |
possibly damaging |
Het |
| Trim11 |
A |
G |
11: 58,879,669 (GRCm39) |
K273R |
probably damaging |
Het |
| Tsacc |
T |
A |
3: 88,190,247 (GRCm39) |
M68L |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,869 (GRCm39) |
M22110L |
probably benign |
Het |
| Zfp160 |
G |
T |
17: 21,261,724 (GRCm39) |
G104V |
probably benign |
Het |
| Zfp582 |
T |
C |
7: 6,357,266 (GRCm39) |
Y360H |
probably damaging |
Het |
| Zranb1 |
G |
A |
7: 132,568,323 (GRCm39) |
R301H |
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 |
|
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'- TGGATTTCAGGACCACCAGC -3'
(R):5'- AGCTAGTTTGATATGTCGGATCC -3'
Sequencing Primer
(F):5'- TTTCAGGACCACCAGCACAGG -3'
(R):5'- CCGTGGATCATCAAATGGAATGTAC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation