Incidental Mutation 'R4670:Jcad'
| ID |
348393 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
041926-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4670 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4674175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 646
(T646A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037029
AA Change: T646A
PolyPhen 2
Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: T646A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
97% (69/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm5 |
T |
A |
7: 119,130,983 (GRCm39) |
|
probably null |
Het |
| Alb |
T |
A |
5: 90,610,665 (GRCm39) |
S82T |
probably benign |
Het |
| Arf4 |
A |
G |
14: 26,374,248 (GRCm39) |
|
probably benign |
Het |
| Arhgap22 |
T |
C |
14: 33,084,500 (GRCm39) |
C260R |
probably damaging |
Het |
| Arhgap32 |
A |
G |
9: 32,081,441 (GRCm39) |
E153G |
probably benign |
Het |
| Arhgef18 |
T |
A |
8: 3,484,897 (GRCm39) |
M200K |
probably damaging |
Het |
| Atp1a4 |
T |
A |
1: 172,062,567 (GRCm39) |
N647Y |
probably benign |
Het |
| Atp5f1c |
A |
T |
2: 10,064,428 (GRCm39) |
L226Q |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,226,245 (GRCm39) |
K310R |
probably damaging |
Het |
| Cadm3 |
T |
A |
1: 173,174,013 (GRCm39) |
T67S |
probably damaging |
Het |
| Cartpt |
C |
T |
13: 100,036,588 (GRCm39) |
|
probably null |
Het |
| Cenpj |
A |
T |
14: 56,790,840 (GRCm39) |
V403E |
possibly damaging |
Het |
| Chst7 |
C |
A |
X: 19,927,110 (GRCm39) |
R386S |
probably damaging |
Het |
| Cyp4f37 |
A |
T |
17: 32,844,126 (GRCm39) |
M77L |
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,117,684 (GRCm39) |
D50V |
probably damaging |
Het |
| Galnt4 |
A |
G |
10: 98,945,160 (GRCm39) |
D295G |
possibly damaging |
Het |
| Gin1 |
C |
T |
1: 97,712,565 (GRCm39) |
P154S |
probably damaging |
Het |
| Gm6471 |
G |
A |
7: 142,385,360 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6818 |
T |
A |
7: 38,101,981 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
T |
A |
7: 39,013,734 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,084,551 (GRCm39) |
|
probably null |
Het |
| Gpr183 |
T |
C |
14: 122,192,149 (GRCm39) |
D124G |
probably damaging |
Het |
| Ift140 |
C |
A |
17: 25,317,935 (GRCm39) |
|
probably benign |
Het |
| Itih5 |
A |
C |
2: 10,195,180 (GRCm39) |
I191L |
probably benign |
Het |
| Kank1 |
T |
C |
19: 25,387,944 (GRCm39) |
M511T |
probably benign |
Het |
| Krt74 |
A |
T |
15: 101,667,304 (GRCm39) |
|
noncoding transcript |
Het |
| Lrrc37a |
A |
G |
11: 103,395,363 (GRCm39) |
S21P |
probably benign |
Het |
| Lrrc8c |
G |
A |
5: 105,756,240 (GRCm39) |
V672I |
probably benign |
Het |
| Lypd4 |
T |
C |
7: 24,566,151 (GRCm39) |
R58G |
probably benign |
Het |
| Magi1 |
A |
T |
6: 93,663,624 (GRCm39) |
|
probably null |
Het |
| Mefv |
T |
A |
16: 3,526,071 (GRCm39) |
L745F |
possibly damaging |
Het |
| Myh13 |
A |
T |
11: 67,255,564 (GRCm39) |
K1645* |
probably null |
Het |
| Naip6 |
A |
G |
13: 100,431,239 (GRCm39) |
|
probably null |
Het |
| Nlrp1c-ps |
T |
C |
11: 71,171,382 (GRCm39) |
|
noncoding transcript |
Het |
| Nsmce3 |
A |
T |
7: 64,522,530 (GRCm39) |
L46Q |
probably benign |
Het |
| Or51aa2 |
A |
G |
7: 103,188,393 (GRCm39) |
V16A |
possibly damaging |
Het |
| Or6k6 |
T |
A |
1: 173,945,427 (GRCm39) |
M52L |
probably benign |
Het |
| Or8k37 |
T |
C |
2: 86,469,512 (GRCm39) |
D180G |
possibly damaging |
Het |
| P2ry12 |
T |
C |
3: 59,125,325 (GRCm39) |
|
probably null |
Het |
| Pcx |
T |
A |
19: 4,669,916 (GRCm39) |
V861E |
probably damaging |
Het |
| Pkp3 |
C |
T |
7: 140,662,612 (GRCm39) |
P75S |
probably benign |
Het |
| Plscr4 |
T |
C |
9: 92,364,920 (GRCm39) |
|
probably null |
Het |
| Pole |
A |
G |
5: 110,454,253 (GRCm39) |
T923A |
probably benign |
Het |
| Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
| Rhot2 |
A |
C |
17: 26,060,305 (GRCm39) |
|
probably benign |
Het |
| Rsrp1 |
A |
G |
4: 134,651,488 (GRCm39) |
Y84C |
unknown |
Het |
| Sbf2 |
T |
C |
7: 109,934,606 (GRCm39) |
K1348E |
probably damaging |
Het |
| Sgip1 |
A |
T |
4: 102,726,951 (GRCm39) |
N53Y |
probably damaging |
Het |
| Snapc2 |
A |
G |
8: 4,304,998 (GRCm39) |
T127A |
possibly damaging |
Het |
| Snx8 |
A |
G |
5: 140,341,713 (GRCm39) |
|
probably null |
Het |
| Spag8 |
A |
G |
4: 43,653,378 (GRCm39) |
|
probably benign |
Het |
| Srebf2 |
T |
C |
15: 82,076,503 (GRCm39) |
F718L |
probably damaging |
Het |
| Szt2 |
C |
G |
4: 118,233,026 (GRCm39) |
|
probably benign |
Het |
| Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
| Tubgcp4 |
T |
A |
2: 121,004,146 (GRCm39) |
Y62* |
probably null |
Het |
| Usp29 |
T |
A |
7: 6,965,914 (GRCm39) |
S586T |
possibly damaging |
Het |
| Vasp |
T |
C |
7: 18,998,350 (GRCm39) |
N108S |
probably benign |
Het |
| Vmn1r214 |
A |
G |
13: 23,219,141 (GRCm39) |
M212V |
probably benign |
Het |
| Wipi2 |
G |
C |
5: 142,645,345 (GRCm39) |
A194P |
probably benign |
Het |
| Zbtb4 |
T |
A |
11: 69,667,355 (GRCm39) |
I220N |
probably damaging |
Het |
| Zcchc2 |
A |
T |
1: 105,917,996 (GRCm39) |
|
probably benign |
Het |
| Zfp729a |
T |
A |
13: 67,769,534 (GRCm39) |
K232* |
probably null |
Het |
| Zfp995 |
A |
T |
17: 22,106,320 (GRCm39) |
M1K |
probably null |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTTGTGCTAGCTACGG -3'
(R):5'- TACTTCGGAGGCAGTGGTATC -3'
Sequencing Primer
(F):5'- CTTGTGCTAGCTACGGATACAAAC -3'
(R):5'- TCGGAGCTACATTGCTGGC -3'
|
| Posted On |
2015-10-08 |
Incidental Mutation