Incidental Mutation 'R1850:Jcad'
| ID |
208039 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jcad
|
| Ensembl Gene |
ENSMUSG00000033960 |
| Gene Name |
junctional cadherin 5 associated |
| Synonyms |
9430020K01Rik |
| MMRRC Submission |
039874-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1850 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
4634878-4682869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 4675730 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 1164
(T1164N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038613
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037029]
|
| AlphaFold |
Q5DTX6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000037029
AA Change: T1164N
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: T1164N
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:JCAD
|
1 |
1309 |
N/A |
PFAM |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.1%
- 20x: 91.8%
|
| Validation Efficiency |
99% (67/68) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam28 |
T |
A |
14: 68,876,644 (GRCm39) |
Q202L |
probably benign |
Het |
| Adgb |
C |
A |
10: 10,318,246 (GRCm39) |
V199F |
probably damaging |
Het |
| Aff1 |
G |
T |
5: 103,981,773 (GRCm39) |
R645S |
probably damaging |
Het |
| Aoc1 |
C |
T |
6: 48,882,202 (GRCm39) |
S48F |
probably benign |
Het |
| Atf6 |
A |
T |
1: 170,646,855 (GRCm39) |
N339K |
probably damaging |
Het |
| Bpifb3 |
C |
G |
2: 153,771,264 (GRCm39) |
S392C |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,366,826 (GRCm39) |
M130V |
probably benign |
Het |
| Ces1a |
T |
A |
8: 93,753,954 (GRCm39) |
N350Y |
probably damaging |
Het |
| Cfap57 |
G |
A |
4: 118,457,091 (GRCm39) |
R453C |
probably damaging |
Het |
| Chd4 |
T |
A |
6: 125,098,619 (GRCm39) |
N1532K |
probably damaging |
Het |
| Chd5 |
T |
C |
4: 152,454,990 (GRCm39) |
L824P |
probably damaging |
Het |
| Ckap5 |
G |
A |
2: 91,426,058 (GRCm39) |
R1306H |
probably damaging |
Het |
| Crybg1 |
A |
G |
10: 43,873,670 (GRCm39) |
F1146S |
probably damaging |
Het |
| Dusp12 |
G |
A |
1: 170,708,198 (GRCm39) |
T173M |
probably benign |
Het |
| Dync2h1 |
T |
C |
9: 7,001,448 (GRCm39) |
T3854A |
probably benign |
Het |
| Echdc1 |
A |
T |
10: 29,220,599 (GRCm39) |
I252F |
probably damaging |
Het |
| Emc1 |
A |
T |
4: 139,086,684 (GRCm39) |
|
probably benign |
Het |
| Fbn2 |
C |
A |
18: 58,172,377 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,814,933 (GRCm39) |
N3555K |
possibly damaging |
Het |
| Gabra1 |
T |
A |
11: 42,070,403 (GRCm39) |
T20S |
probably benign |
Het |
| Igf1 |
A |
C |
10: 87,697,236 (GRCm39) |
T2P |
possibly damaging |
Het |
| Insyn1 |
A |
T |
9: 58,406,392 (GRCm39) |
M101L |
probably benign |
Het |
| Kalrn |
A |
T |
16: 33,796,293 (GRCm39) |
S2830T |
probably damaging |
Het |
| Lepr |
C |
A |
4: 101,590,620 (GRCm39) |
A66E |
possibly damaging |
Het |
| Lmntd1 |
T |
A |
6: 145,359,206 (GRCm39) |
M315L |
probably benign |
Het |
| Lrch3 |
A |
G |
16: 32,807,163 (GRCm39) |
T479A |
probably benign |
Het |
| Macroh2a1 |
T |
C |
13: 56,244,052 (GRCm39) |
|
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,110 (GRCm39) |
N237D |
probably damaging |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Mtif2 |
A |
G |
11: 29,490,683 (GRCm39) |
I462M |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,090,232 (GRCm39) |
I442V |
probably damaging |
Het |
| Or11g25 |
G |
A |
14: 50,723,055 (GRCm39) |
A47T |
probably benign |
Het |
| Or6b2b |
T |
A |
1: 92,419,124 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or8k35 |
A |
T |
2: 86,424,448 (GRCm39) |
C241* |
probably null |
Het |
| Otogl |
T |
A |
10: 107,713,925 (GRCm39) |
Y498F |
probably damaging |
Het |
| Pbx3 |
A |
T |
2: 34,066,832 (GRCm39) |
F351I |
probably benign |
Het |
| Pcdh18 |
T |
C |
3: 49,710,854 (GRCm39) |
T154A |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,005,025 (GRCm39) |
|
probably null |
Het |
| Plec |
T |
C |
15: 76,072,432 (GRCm39) |
I718V |
probably benign |
Het |
| Pparg |
T |
A |
6: 115,427,941 (GRCm39) |
Y143N |
probably damaging |
Het |
| Prl2c5 |
A |
G |
13: 13,360,377 (GRCm39) |
I12V |
probably benign |
Het |
| Rcor3 |
T |
A |
1: 191,804,411 (GRCm39) |
Q246L |
probably benign |
Het |
| Rnf214 |
A |
T |
9: 45,780,746 (GRCm39) |
|
probably benign |
Het |
| S1pr5 |
A |
T |
9: 21,155,425 (GRCm39) |
S334T |
probably benign |
Het |
| Scg3 |
C |
T |
9: 75,589,449 (GRCm39) |
S35N |
possibly damaging |
Het |
| Septin5 |
A |
T |
16: 18,443,960 (GRCm39) |
L19Q |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,356,025 (GRCm39) |
F16S |
probably damaging |
Het |
| Sipa1l3 |
A |
T |
7: 29,038,551 (GRCm39) |
S365R |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,033,347 (GRCm39) |
|
probably null |
Het |
| Slc2a10 |
C |
A |
2: 165,357,133 (GRCm39) |
H264Q |
probably benign |
Het |
| Slc9a3 |
A |
G |
13: 74,309,889 (GRCm39) |
I526V |
probably benign |
Het |
| Smchd1 |
T |
C |
17: 71,696,766 (GRCm39) |
D1203G |
probably damaging |
Het |
| Spata6l |
T |
C |
19: 28,916,571 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
A |
G |
5: 87,668,700 (GRCm39) |
W181R |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,110,703 (GRCm39) |
|
probably benign |
Het |
| Tcf12 |
C |
A |
9: 71,775,497 (GRCm39) |
A418S |
probably damaging |
Het |
| Tesk1 |
C |
T |
4: 43,443,576 (GRCm39) |
R48C |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,487,510 (GRCm39) |
Q677R |
probably damaging |
Het |
| Tspan8 |
C |
T |
10: 115,669,130 (GRCm39) |
A55V |
probably damaging |
Het |
| Txndc11 |
T |
C |
16: 10,906,268 (GRCm39) |
N421D |
probably damaging |
Het |
| Vmn1r201 |
A |
G |
13: 22,658,801 (GRCm39) |
N5S |
probably benign |
Het |
| Vmn2r120 |
T |
A |
17: 57,832,826 (GRCm39) |
I118L |
probably benign |
Het |
| Vps13b |
A |
T |
15: 35,675,105 (GRCm39) |
|
probably benign |
Het |
| Wdfy3 |
A |
G |
5: 102,042,865 (GRCm39) |
V1962A |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,760,815 (GRCm39) |
R107* |
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 |
|
|
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'- AGAGGACTCATCACACAGCTTG -3'
(R):5'- GACACCTCATCTGAGACAAGGAG -3'
Sequencing Primer
(F):5'- TCACACAGCTTGGCACTAC -3'
(R):5'- TCATCTGAGACAAGGAGTTGACCTC -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation