Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00672:Jcad'

8497

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00672

Quality Score

Status

Chromosome

Chromosomal Location

4634878-4682869 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4674835 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 866 (S866P)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

AlphaFold

Q5DTX6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037029
AA Change: S866P

PolyPhen 2 Score 0.768 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: S866P

Domain	Start	End	E-Value	Type
Pfam:JCAD	1	1309	N/A	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310030G06Rik	A	G	9: 50,657,736 (GRCm39)		probably benign	Het
Adamts20	A	G	15: 94,238,986 (GRCm39)	I744T	probably damaging	Het
Akap11	G	A	14: 78,748,781 (GRCm39)	A1202V	probably damaging	Het
C130032M10Rik	A	G	9: 114,344,898 (GRCm39)	V340A	probably damaging	Het
Csnk1g1	G	T	9: 65,915,028 (GRCm39)	S229I	probably damaging	Het
E130308A19Rik	A	G	4: 59,719,697 (GRCm39)	S410G	probably benign	Het
Eif2s2	T	A	2: 154,729,629 (GRCm39)	I98L	probably benign	Het
En1	T	C	1: 120,534,667 (GRCm39)	F319L	unknown	Het
Fmnl3	A	T	15: 99,223,562 (GRCm39)	Y345N	probably damaging	Het
Fras1	T	C	5: 96,907,309 (GRCm39)		probably benign	Het
Gm12695	A	G	4: 96,637,419 (GRCm39)	L366P	probably damaging	Het
Golga3	T	C	5: 110,360,110 (GRCm39)	L1156S	probably damaging	Het
Gpcpd1	G	T	2: 132,372,468 (GRCm39)		probably benign	Het
Hvcn1	C	A	5: 122,376,534 (GRCm39)	F155L	probably benign	Het
Kdm4c	A	G	4: 74,261,751 (GRCm39)	N642S	probably benign	Het
Kif2c	T	C	4: 117,035,443 (GRCm39)	I2V	probably benign	Het
Klri2	T	A	6: 129,710,034 (GRCm39)	I189F	probably damaging	Het
Lair1	T	A	7: 4,031,730 (GRCm39)	T126S	probably benign	Het
Lins1	A	T	7: 66,364,279 (GRCm39)	K725*	probably null	Het
Lman2l	T	A	1: 36,477,915 (GRCm39)		probably null	Het
Map3k10	T	C	7: 27,361,026 (GRCm39)	K496E	probably damaging	Het
Nr2f2	A	G	7: 70,007,514 (GRCm39)	S170P	possibly damaging	Het
Polr1b	G	A	2: 128,967,392 (GRCm39)	M928I	probably damaging	Het
Rffl	G	A	11: 82,709,310 (GRCm39)	P38S	probably damaging	Het
Rtl1	T	C	12: 109,559,434 (GRCm39)	S802G	probably benign	Het
Sema5a	A	G	15: 32,619,026 (GRCm39)	E518G	probably benign	Het
Smdt1	G	A	15: 82,230,384 (GRCm39)	V34I	possibly damaging	Het
Ssr3	C	A	3: 65,298,831 (GRCm39)	A59S	probably benign	Het
Stk4	A	G	2: 163,959,999 (GRCm39)	K59E	probably benign	Het
Syne2	C	T	12: 76,110,958 (GRCm39)	T1024M	probably damaging	Het
Taf5	A	T	19: 47,070,740 (GRCm39)	D723V	probably damaging	Het
Tescl	T	C	7: 24,033,035 (GRCm39)	T97A	probably benign	Het
Thada	A	T	17: 84,751,646 (GRCm39)	S443R	probably benign	Het
Trp53bp2	A	T	1: 182,268,541 (GRCm39)	H205L	probably benign	Het
Ube4b	A	G	4: 149,465,823 (GRCm39)	V209A	probably benign	Het
Zfp957	G	T	14: 79,450,838 (GRCm39)	D320E	unknown	Het
Zfr2	T	C	10: 81,077,919 (GRCm39)	S249P	probably damaging	Het
Zmpste24	A	G	4: 120,923,057 (GRCm39)	I386T	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
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
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

Posted On

2012-12-06