Mutagenetix > Incidental Mutation

Incidental Mutation 'R5721:Jcad'

451462

Institutional Source

Beutler Lab

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

MMRRC Submission

043189-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5721 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

4634878-4682869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 4676044 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1269 (T1269S)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037029]

AlphaFold

Q5DTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037029
AA Change: T1269S

PolyPhen 2 Score 0.477 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: T1269S

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: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	A	T	15: 84,844,798 (GRCm39)	V30D	probably damaging	Het
Atl3	T	A	19: 7,506,376 (GRCm39)	M302K	probably benign	Het
Ccdc91	C	G	6: 147,477,001 (GRCm39)	L230V	unknown	Het
Ciz1	C	T	2: 32,266,052 (GRCm39)	T39I	probably damaging	Het
Cog8	T	C	8: 107,776,780 (GRCm39)	T532A	probably benign	Het
Ctsr	C	T	13: 61,309,667 (GRCm39)	G181S	possibly damaging	Het
Drc7	T	C	8: 95,800,961 (GRCm39)		probably null	Het
Dvl2	A	G	11: 69,896,819 (GRCm39)	R238G	possibly damaging	Het
Faf1	T	C	4: 109,792,863 (GRCm39)	F612L	probably benign	Het
Fbxo40	T	A	16: 36,789,296 (GRCm39)	M605L	probably benign	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gprc6a	A	T	10: 51,491,076 (GRCm39)	M716K	probably benign	Het
Greb1l	G	A	18: 10,542,427 (GRCm39)	E1341K	probably damaging	Het
Ift70a1	A	T	2: 75,811,715 (GRCm39)	Y123N	probably damaging	Het
Kif23	C	G	9: 61,851,498 (GRCm39)	G66A	probably benign	Het
Lrrd1	T	C	5: 3,900,619 (GRCm39)	M308T	probably benign	Het
Lsg1	C	T	16: 30,380,593 (GRCm39)	A615T	probably benign	Het
Mcph1	G	A	8: 18,721,223 (GRCm39)	V684M	probably damaging	Het
Mpv17l	T	C	16: 13,764,658 (GRCm39)	Y62H	probably damaging	Het
Or10a5	T	C	7: 106,635,565 (GRCm39)	S68P	probably damaging	Het
Or13d1	G	T	4: 52,971,068 (GRCm39)	W149L	probably damaging	Het
Osgepl1	A	T	1: 53,360,359 (GRCm39)	M362L	possibly damaging	Het
P2ry14	T	C	3: 59,022,452 (GRCm39)		probably null	Het
Pacsin3	T	A	2: 91,094,580 (GRCm39)	C402S	probably damaging	Het
Papss2	A	G	19: 32,638,064 (GRCm39)	Y392C	probably damaging	Het
Plekha8	T	A	6: 54,590,091 (GRCm39)	W19R	probably damaging	Het
Prdm15	A	T	16: 97,608,296 (GRCm39)	I667N	possibly damaging	Het
Rab11fip2	A	G	19: 59,924,042 (GRCm39)	S279P	probably damaging	Het
Slc6a20b	C	A	9: 123,441,054 (GRCm39)	G131C	probably null	Het
Suox	T	C	10: 128,507,162 (GRCm39)	I289V	possibly damaging	Het
Tbc1d16	C	T	11: 119,049,556 (GRCm39)		probably null	Het
Tmem269	T	C	4: 119,067,146 (GRCm39)	T146A	probably benign	Het
Ttn	G	A	2: 76,558,911 (GRCm39)	R29657W	probably damaging	Het
Vmn1r84	C	A	7: 12,096,153 (GRCm39)	C168F	probably damaging	Het
Zc3h7b	T	C	15: 81,657,499 (GRCm39)	F180L	probably benign	Het
Zfand4	C	G	6: 116,264,956 (GRCm39)	D140E	probably 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
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'- CCTTCCAAAGTGGTTGAGAAC -3'
(R):5'- AGGTGAGGATACCCATGCTTC -3'

Sequencing Primer
(F):5'- TCCAAAGTGGTTGAGAACTTACAAG -3'
(R):5'- GGATACCCATGCTTCTAATAATCAC -3'

Posted On

2017-01-03