Mutagenetix > Incidental Mutation

Incidental Mutation 'R1734:Jcad'

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) question?

Stock #

R1734 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4634929-4682868 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 4674526 bp (GRCm38)

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
Abca13	T	C	11: 9,585,460	C4695R	probably benign	Het
Actr10	T	A	12: 70,961,996	V401E	probably benign	Het
Adamts16	G	A	13: 70,779,518		probably benign	Het
Aimp1	A	T	3: 132,674,796	I59K	probably damaging	Het
Alms1	T	A	6: 85,641,550		probably null	Het
Anln	A	T	9: 22,350,955	S947T	possibly damaging	Het
Atp2c1	T	C	9: 105,414,655	T733A	probably damaging	Het
BC049715	C	T	6: 136,840,308	P182L	probably damaging	Het
Cblb	T	C	16: 52,186,240		probably benign	Het
Cep295	C	T	9: 15,340,883	E397K	probably damaging	Het
Ces4a	G	A	8: 105,138,097	G69S	probably damaging	Het
Chac1	A	T	2: 119,353,458	L180F	probably damaging	Het
Cherp	A	T	8: 72,470,088		probably null	Het
Ckap4	A	G	10: 84,527,874	S442P	probably benign	Het
Clstn3	G	A	6: 124,436,814		probably benign	Het
Crb2	T	A	2: 37,793,656	C1057S	probably damaging	Het
Dact2	T	C	17: 14,196,639	D433G	probably benign	Het
Dnah6	G	A	6: 73,044,761	T3526M	probably damaging	Het
Ethe1	A	G	7: 24,608,384	T210A	probably benign	Het
Fat2	A	G	11: 55,281,371	S2839P	probably benign	Het
Fbxl7	T	C	15: 26,543,649	Y304C	probably damaging	Het
Gad1-ps	A	T	10: 99,445,775		noncoding transcript	Het
Gm436	A	T	4: 144,670,026	C379S	probably benign	Het
Grm3	C	T	5: 9,589,742	R101K	probably benign	Het
Hspa12b	A	G	2: 131,138,536	Y125C	possibly damaging	Het
Il10ra	T	C	9: 45,255,943	T437A	probably benign	Het
Map3k10	T	C	7: 27,658,115	D746G	probably damaging	Het
Mettl9	T	A	7: 121,047,841	Y57N	probably damaging	Het
Nav2	G	A	7: 49,575,720	E1803K	probably damaging	Het
Nol11	G	A	11: 107,175,623	S447L	possibly damaging	Het
Olfr294	C	T	7: 86,616,217	V143M	probably benign	Het
Osbpl1a	T	C	18: 12,788,316		probably null	Het
Pde6a	A	G	18: 61,285,965	N804S	probably damaging	Het
Pepd	A	T	7: 35,031,426	D301V	probably benign	Het
Piwil2	A	T	14: 70,426,505		probably null	Het
Plec	C	T	15: 76,186,218	V931M	probably damaging	Het
Prrc2a	A	G	17: 35,150,707	S1877P	possibly damaging	Het
Retreg2	G	T	1: 75,142,986		probably null	Het
Slc7a11	G	A	3: 50,372,346	Q489*	probably null	Het
Sned1	G	A	1: 93,259,768	D256N	probably damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Ssfa2	G	A	2: 79,657,822	V750M	probably damaging	Het
Syce2	G	A	8: 84,887,147	E168K	probably benign	Het
Tex37	T	A	6: 70,913,661	Q49L	probably benign	Het
Tmem260	G	T	14: 48,509,093	V609L	probably benign	Het
Trim35	A	G	14: 66,309,329	D515G	probably damaging	Het
Tspan5	T	C	3: 138,898,140	Y131H	probably damaging	Het
Ttbk2	T	C	2: 120,755,838	I466V	probably benign	Het
Ttn	T	C	2: 76,745,813	D24912G	probably damaging	Het
Utp20	A	T	10: 88,767,461	N1843K	probably damaging	Het
Vmn1r20	A	G	6: 57,432,300	R204G	probably damaging	Het
Vps18	A	T	2: 119,293,942	Q450L	probably benign	Het
Zbtb4	A	G	11: 69,776,463	E198G	probably benign	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
IGL03002:Jcad	APN	18	4675153	missense	probably benign	0.00
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
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
R8168:Jcad	UTSW	18	4675094	missense	probably benign	0.00
R8232:Jcad	UTSW	18	4674862	missense	probably benign	0.23
R8276:Jcad	UTSW	18	4674318	missense	probably damaging	1.00
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

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