Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03002:Jcad'

407384

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jcad

Ensembl Gene

ENSMUSG00000033960

Gene Name

junctional cadherin 5 associated

Synonyms

9430020K01Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03002

Quality Score

Status

Chromosome

Chromosomal Location

4634929-4682868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4675153 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 972 (Y972N)

Ref Sequence

ENSEMBL: ENSMUSP00000038613 (fasta)

Gene Model

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

AlphaFold

Q5DTX6

Predicted Effect

probably benign
Transcript: ENSMUST00000037029
AA Change: Y972N

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000038613
Gene: ENSMUSG00000033960
AA Change: Y972N

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
Acadl	T	C	1: 66,836,969	I398V	probably benign	Het
Adcy4	A	T	14: 55,773,556	C635S	probably benign	Het
Asic4	C	A	1: 75,451,323	D164E	possibly damaging	Het
C8g	T	A	2: 25,498,811	*203L	probably null	Het
Cad	T	C	5: 31,054,986	V11A	probably benign	Het
Cckar	T	C	5: 53,702,905	N194S	probably damaging	Het
Cdc123	T	C	2: 5,798,355		probably benign	Het
Chrm5	T	C	2: 112,480,361	T137A	probably damaging	Het
Cyp1a1	A	G	9: 57,702,441		probably benign	Het
Dapk3	G	T	10: 81,190,603	E187*	probably null	Het
Dmtf1	T	C	5: 9,140,474	E80G	probably damaging	Het
Dusp19	T	A	2: 80,630,935	N189K	probably damaging	Het
Gfral	A	G	9: 76,197,238	V164A	possibly damaging	Het
Hk1	A	T	10: 62,271,799	V799E	probably damaging	Het
Iars2	C	T	1: 185,322,816		probably null	Het
Lrp1	A	T	10: 127,589,636	D708E	probably damaging	Het
Mbtd1	T	A	11: 93,924,490	H301Q	probably benign	Het
Med12	A	G	X: 101,295,855	T2004A	probably benign	Het
Mib1	T	C	18: 10,798,356	I739T	possibly damaging	Het
Mthfsd	C	T	8: 121,108,279		probably benign	Het
Mybpc3	T	G	2: 91,123,889	F369C	probably damaging	Het
Nfatc2	C	T	2: 168,534,984	V329M	probably damaging	Het
Ngef	A	T	1: 87,509,392		probably null	Het
Nlrp1b	T	C	11: 71,168,859	E759G	probably benign	Het
Olfr432	C	A	1: 174,050,625	T84N	probably benign	Het
Prdm4	T	C	10: 85,893,152	E790G	probably benign	Het
Psmd12	A	G	11: 107,485,781	D81G	probably benign	Het
Rnf144b	A	G	13: 47,242,883	H232R	probably damaging	Het
Sec63	C	T	10: 42,810,909	T475M	possibly damaging	Het
Slc16a4	A	T	3: 107,300,786	N204I	probably benign	Het
Socs1	T	C	16: 10,784,540	N111S	probably damaging	Het
Srpr	A	G	9: 35,214,721	N432D	probably damaging	Het
Srrm2	A	G	17: 23,815,734		probably benign	Het
Svs1	A	G	6: 48,987,118	H20R	probably benign	Het
Tgoln1	A	G	6: 72,616,072	S142P	possibly damaging	Het
Trbv13-1	A	G	6: 41,116,235	N34S	probably benign	Het
Vmn2r26	T	C	6: 124,039,795	V406A	possibly damaging	Het
Vsig1	G	T	X: 140,926,339	G79V	probably damaging	Het

Other mutations in Jcad

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00650:Jcad	APN	18	4675692	missense	probably benign	0.14
IGL00672:Jcad	APN	18	4674835	missense	possibly damaging	0.77
IGL00782:Jcad	APN	18	4675073	missense	probably benign	0.00
IGL00825:Jcad	APN	18	4673516	missense	probably damaging	1.00
IGL01522:Jcad	APN	18	4673312	missense	probably damaging	0.97
IGL01796:Jcad	APN	18	4672855	nonsense	probably null
IGL01973:Jcad	APN	18	4675514	missense	probably benign	0.21
IGL02083:Jcad	APN	18	4680266	utr 3 prime	probably benign
IGL02625:Jcad	APN	18	4674422	missense	probably benign	0.03
IGL03325:Jcad	APN	18	4673902	missense	probably benign
R0304:Jcad	UTSW	18	4673325	missense	possibly damaging	0.75
R0487:Jcad	UTSW	18	4673243	missense	probably damaging	1.00
R0519:Jcad	UTSW	18	4649122	start gained	probably benign
R0664:Jcad	UTSW	18	4676063	missense	probably damaging	0.97
R1649:Jcad	UTSW	18	4673309	missense	probably damaging	1.00
R1710:Jcad	UTSW	18	4674511	missense	probably damaging	1.00
R1734:Jcad	UTSW	18	4674526	missense	probably damaging	1.00
R1823:Jcad	UTSW	18	4675780	missense	probably damaging	1.00
R1824:Jcad	UTSW	18	4649293	missense	probably benign
R1850:Jcad	UTSW	18	4675730	missense	possibly damaging	0.95
R1872:Jcad	UTSW	18	4673048	missense	probably benign
R1878:Jcad	UTSW	18	4673857	missense	possibly damaging	0.60
R1918:Jcad	UTSW	18	4674292	missense	probably damaging	1.00
R1967:Jcad	UTSW	18	4675162	missense	probably benign	0.07
R2420:Jcad	UTSW	18	4675952	missense	probably damaging	1.00
R2504:Jcad	UTSW	18	4674026	missense	probably damaging	0.99
R2936:Jcad	UTSW	18	4675153	missense	probably benign	0.00
R4420:Jcad	UTSW	18	4676032	missense	probably benign	0.00
R4668:Jcad	UTSW	18	4680221	splice site	probably null
R4670:Jcad	UTSW	18	4674175	missense	probably benign	0.03
R4671:Jcad	UTSW	18	4674175	missense	probably benign	0.03
R4707:Jcad	UTSW	18	4649338	nonsense	probably null
R4720:Jcad	UTSW	18	4674055	missense	probably benign	0.03
R4815:Jcad	UTSW	18	4675223	missense	possibly damaging	0.94
R4906:Jcad	UTSW	18	4673762	missense	probably damaging	1.00
R5214:Jcad	UTSW	18	4674134	missense	probably damaging	1.00
R5439:Jcad	UTSW	18	4675790	missense	probably damaging	1.00
R5563:Jcad	UTSW	18	4673944	missense	possibly damaging	0.93
R5721:Jcad	UTSW	18	4676044	missense	possibly damaging	0.48
R5825:Jcad	UTSW	18	4674896	missense	probably benign	0.00
R5952:Jcad	UTSW	18	4674554	missense	probably damaging	1.00
R6661:Jcad	UTSW	18	4675256	missense	probably damaging	1.00
R6928:Jcad	UTSW	18	4673372	missense	probably benign	0.00
R7426:Jcad	UTSW	18	4675529	missense	probably benign	0.11
R7808:Jcad	UTSW	18	4673113	missense	probably damaging	1.00
R7943:Jcad	UTSW	18	4672700	missense	probably damaging	1.00
R8010:Jcad	UTSW	18	4674581	missense	probably benign
R8080:Jcad	UTSW	18	4649270	missense	probably benign	0.01
R8133:Jcad	UTSW	18	4649384	missense	probably benign	0.03
R8408:Jcad	UTSW	18	4649402	missense	possibly damaging	0.55
R9173:Jcad	UTSW	18	4675820	missense	probably benign	0.42
R9415:Jcad	UTSW	18	4673912	missense	probably damaging	1.00
R9571:Jcad	UTSW	18	4673252	nonsense	probably null
T0722:Jcad	UTSW	18	4675531	missense	probably benign	0.25
X0017:Jcad	UTSW	18	4676044	missense	probably benign	0.01

Posted On

2016-08-02