Incidental Mutation 'R1734:Jcad'
| ID |
199600 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
039766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1734 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4674526 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 763
(F763L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000037029
AA Change: F763L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: F763L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.2998 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (59/60) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm4 |
A |
T |
4: 144,396,596 (GRCm39) |
C379S |
probably benign |
Het |
| Abca13 |
T |
C |
11: 9,535,460 (GRCm39) |
C4695R |
probably benign |
Het |
| Actr10 |
T |
A |
12: 71,008,770 (GRCm39) |
V401E |
probably benign |
Het |
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Aimp1 |
A |
T |
3: 132,380,557 (GRCm39) |
I59K |
probably damaging |
Het |
| Alms1 |
T |
A |
6: 85,618,532 (GRCm39) |
|
probably null |
Het |
| Anln |
A |
T |
9: 22,262,251 (GRCm39) |
S947T |
possibly damaging |
Het |
| Atp2c1 |
T |
C |
9: 105,291,854 (GRCm39) |
T733A |
probably damaging |
Het |
| BC049715 |
C |
T |
6: 136,817,306 (GRCm39) |
P182L |
probably damaging |
Het |
| Cblb |
T |
C |
16: 52,006,603 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
C |
T |
9: 15,252,179 (GRCm39) |
E397K |
probably damaging |
Het |
| Ces4a |
G |
A |
8: 105,864,729 (GRCm39) |
G69S |
probably damaging |
Het |
| Chac1 |
A |
T |
2: 119,183,939 (GRCm39) |
L180F |
probably damaging |
Het |
| Cherp |
A |
T |
8: 73,223,932 (GRCm39) |
|
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,363,738 (GRCm39) |
S442P |
probably benign |
Het |
| Clstn3 |
G |
A |
6: 124,413,773 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
T |
A |
2: 37,683,668 (GRCm39) |
C1057S |
probably damaging |
Het |
| Dact2 |
T |
C |
17: 14,416,901 (GRCm39) |
D433G |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,021,744 (GRCm39) |
T3526M |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,307,809 (GRCm39) |
T210A |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,172,197 (GRCm39) |
S2839P |
probably benign |
Het |
| Fbxl7 |
T |
C |
15: 26,543,735 (GRCm39) |
Y304C |
probably damaging |
Het |
| Gad1-ps |
A |
T |
10: 99,281,637 (GRCm39) |
|
noncoding transcript |
Het |
| Grm3 |
C |
T |
5: 9,639,742 (GRCm39) |
R101K |
probably benign |
Het |
| Hspa12b |
A |
G |
2: 130,980,456 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Il10ra |
T |
C |
9: 45,167,241 (GRCm39) |
T437A |
probably benign |
Het |
| Itprid2 |
G |
A |
2: 79,488,166 (GRCm39) |
V750M |
probably damaging |
Het |
| Map3k10 |
T |
C |
7: 27,357,540 (GRCm39) |
D746G |
probably damaging |
Het |
| Mettl9 |
T |
A |
7: 120,647,064 (GRCm39) |
Y57N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,225,468 (GRCm39) |
E1803K |
probably damaging |
Het |
| Nol11 |
G |
A |
11: 107,066,449 (GRCm39) |
S447L |
possibly damaging |
Het |
| Or14a256 |
C |
T |
7: 86,265,425 (GRCm39) |
V143M |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,921,373 (GRCm39) |
|
probably null |
Het |
| Pde6a |
A |
G |
18: 61,419,036 (GRCm39) |
N804S |
probably damaging |
Het |
| Pepd |
A |
T |
7: 34,730,851 (GRCm39) |
D301V |
probably benign |
Het |
| Piwil2 |
A |
T |
14: 70,663,954 (GRCm39) |
|
probably null |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Prrc2a |
A |
G |
17: 35,369,683 (GRCm39) |
S1877P |
possibly damaging |
Het |
| Retreg2 |
G |
T |
1: 75,119,630 (GRCm39) |
|
probably null |
Het |
| Slc7a11 |
G |
A |
3: 50,326,795 (GRCm39) |
Q489* |
probably null |
Het |
| Sned1 |
G |
A |
1: 93,187,490 (GRCm39) |
D256N |
probably damaging |
Het |
| Sphkap |
G |
A |
1: 83,255,236 (GRCm39) |
R838* |
probably null |
Het |
| Spmip9 |
T |
A |
6: 70,890,645 (GRCm39) |
Q49L |
probably benign |
Het |
| Syce2 |
G |
A |
8: 85,613,776 (GRCm39) |
E168K |
probably benign |
Het |
| Tmem260 |
G |
T |
14: 48,746,550 (GRCm39) |
V609L |
probably benign |
Het |
| Trim35 |
A |
G |
14: 66,546,778 (GRCm39) |
D515G |
probably damaging |
Het |
| Tspan5 |
T |
C |
3: 138,603,901 (GRCm39) |
Y131H |
probably damaging |
Het |
| Ttbk2 |
T |
C |
2: 120,586,319 (GRCm39) |
I466V |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,576,157 (GRCm39) |
D24912G |
probably damaging |
Het |
| Utp20 |
A |
T |
10: 88,603,323 (GRCm39) |
N1843K |
probably damaging |
Het |
| Vmn1r20 |
A |
G |
6: 57,409,285 (GRCm39) |
R204G |
probably damaging |
Het |
| Vps18 |
A |
T |
2: 119,124,423 (GRCm39) |
Q450L |
probably benign |
Het |
| Zbtb4 |
A |
G |
11: 69,667,289 (GRCm39) |
E198G |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGATGACCCCAGAATCCTCCATCTC -3'
(R):5'- TGACCGAAGAGTTGTGTGCTATTGC -3'
Sequencing Primer
(F):5'- AGAACTTCAGGCTTCCAGC -3'
(R):5'- TGCTATTGCACTGGCCTG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation