Incidental Mutation 'R5439:Jcad'
| ID |
428559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
043004-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5439 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4675790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 1184
(F1184S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037029
AA Change: F1184S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: F1184S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm5 |
A |
T |
4: 144,504,683 (GRCm39) |
I156N |
probably damaging |
Het |
| Abca1 |
C |
A |
4: 53,042,381 (GRCm39) |
R1897L |
possibly damaging |
Het |
| Ablim2 |
A |
G |
5: 36,015,170 (GRCm39) |
K461E |
probably damaging |
Het |
| Acss3 |
A |
T |
10: 106,773,008 (GRCm39) |
Y659* |
probably null |
Het |
| Actr8 |
T |
G |
14: 29,708,952 (GRCm39) |
L253R |
probably damaging |
Het |
| Arid4b |
A |
G |
13: 14,362,281 (GRCm39) |
K915R |
probably damaging |
Het |
| C3 |
T |
C |
17: 57,511,502 (GRCm39) |
E1560G |
probably benign |
Het |
| Cacna1c |
A |
T |
6: 118,631,333 (GRCm39) |
I1013N |
probably damaging |
Het |
| Cep83 |
G |
A |
10: 94,625,600 (GRCm39) |
R670H |
probably benign |
Het |
| Col19a1 |
T |
A |
1: 24,332,193 (GRCm39) |
D870V |
probably damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,298 (GRCm39) |
V164A |
possibly damaging |
Het |
| Dnaaf10 |
A |
G |
11: 17,162,031 (GRCm39) |
D23G |
possibly damaging |
Het |
| Donson |
A |
T |
16: 91,476,814 (GRCm39) |
V549E |
probably damaging |
Het |
| Egflam |
C |
T |
15: 7,254,144 (GRCm39) |
G824R |
probably damaging |
Het |
| Extl3 |
A |
G |
14: 65,292,075 (GRCm39) |
F916S |
probably damaging |
Het |
| Fam110c |
A |
G |
12: 31,124,406 (GRCm39) |
M123V |
unknown |
Het |
| G3bp1 |
A |
T |
11: 55,388,813 (GRCm39) |
I342F |
probably damaging |
Het |
| Golgb1 |
A |
G |
16: 36,720,870 (GRCm39) |
N409D |
probably benign |
Het |
| Grin2b |
C |
T |
6: 135,713,304 (GRCm39) |
G859D |
probably damaging |
Het |
| Hspb1 |
A |
T |
5: 135,918,186 (GRCm39) |
T178S |
probably benign |
Het |
| Iigp1 |
A |
G |
18: 60,523,329 (GRCm39) |
Y149C |
probably damaging |
Het |
| Il22 |
G |
T |
10: 118,045,366 (GRCm39) |
G159* |
probably null |
Het |
| Kcnj2 |
G |
T |
11: 110,963,057 (GRCm39) |
V150L |
probably damaging |
Het |
| Kifc1 |
C |
T |
17: 34,105,639 (GRCm39) |
R56Q |
probably damaging |
Het |
| Lce1h |
A |
G |
3: 92,671,027 (GRCm39) |
S42P |
unknown |
Het |
| Lrp4 |
C |
A |
2: 91,327,418 (GRCm39) |
D1471E |
probably benign |
Het |
| Lrrc3 |
C |
A |
10: 77,737,299 (GRCm39) |
V46L |
probably benign |
Het |
| Mcf2l |
G |
A |
8: 12,976,646 (GRCm39) |
A2T |
possibly damaging |
Het |
| Med12l |
G |
A |
3: 59,170,634 (GRCm39) |
C1673Y |
probably null |
Het |
| Nckap1 |
T |
C |
2: 80,343,034 (GRCm39) |
E955G |
possibly damaging |
Het |
| Ndufs3 |
T |
A |
2: 90,732,690 (GRCm39) |
|
probably null |
Het |
| Nkx6-1 |
A |
G |
5: 101,809,698 (GRCm39) |
|
probably null |
Het |
| Obscn |
C |
A |
11: 58,890,954 (GRCm39) |
E1713* |
probably null |
Het |
| Or10ak12 |
G |
A |
4: 118,666,560 (GRCm39) |
T167I |
possibly damaging |
Het |
| Or10g1b |
A |
G |
14: 52,627,582 (GRCm39) |
F216S |
probably damaging |
Het |
| Or10n1 |
A |
G |
9: 39,524,916 (GRCm39) |
T18A |
probably benign |
Het |
| Or2n1 |
T |
A |
17: 38,486,917 (GRCm39) |
|
probably null |
Het |
| Or6n1 |
A |
G |
1: 173,917,541 (GRCm39) |
R312G |
probably benign |
Het |
| Or7e165 |
A |
C |
9: 19,695,161 (GRCm39) |
H244P |
probably damaging |
Het |
| Or8c15 |
A |
G |
9: 38,121,050 (GRCm39) |
T234A |
probably benign |
Het |
| Osbpl5 |
A |
G |
7: 143,295,433 (GRCm39) |
F10L |
possibly damaging |
Het |
| Plvap |
A |
C |
8: 71,964,095 (GRCm39) |
I89S |
probably damaging |
Het |
| Ppp2r2a |
A |
G |
14: 67,259,772 (GRCm39) |
V308A |
possibly damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,540,250 (GRCm39) |
S132G |
probably benign |
Het |
| Pum3 |
G |
T |
19: 27,389,659 (GRCm39) |
Q398K |
probably benign |
Het |
| Ralgapa2 |
T |
C |
2: 146,184,430 (GRCm39) |
T1526A |
probably benign |
Het |
| Sh3tc2 |
T |
A |
18: 62,122,704 (GRCm39) |
Y488* |
probably null |
Het |
| Spmip7 |
A |
T |
11: 11,440,244 (GRCm39) |
R8S |
possibly damaging |
Het |
| Sqle |
A |
G |
15: 59,202,753 (GRCm39) |
Y537C |
probably benign |
Het |
| Sult2a8 |
T |
G |
7: 14,159,439 (GRCm39) |
K60T |
probably damaging |
Het |
| Tex15 |
T |
C |
8: 34,064,199 (GRCm39) |
S1210P |
possibly damaging |
Het |
| Thumpd3 |
A |
G |
6: 113,043,825 (GRCm39) |
|
silent |
Het |
| Timeless |
A |
G |
10: 128,077,604 (GRCm39) |
D228G |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,216,797 (GRCm39) |
|
probably null |
Het |
| Ttc39c |
A |
T |
18: 12,828,428 (GRCm39) |
D196V |
possibly damaging |
Het |
| Wbp4 |
C |
A |
14: 79,709,837 (GRCm39) |
V133L |
possibly damaging |
Het |
| Zfp354c |
G |
T |
11: 50,706,597 (GRCm39) |
D159E |
probably benign |
Het |
| Zfp940 |
C |
A |
7: 29,544,858 (GRCm39) |
D350Y |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GAGGACTCATCACACAGCTTG -3'
(R):5'- GACACCTCATCTGAGACAAGG -3'
Sequencing Primer
(F):5'- AAAGTGGCCACTGACGC -3'
(R):5'- TCATCTGAGACAAGGAGTTGACCTC -3'
|
| Posted On |
2016-09-01 |
Incidental Mutation