Mutagenetix > Incidental Mutations

Incidental Mutation 'R4570:Jhy'

342083

Institutional Source

Beutler Lab

Gene Symbol

Jhy

Ensembl Gene

ENSMUSG00000032023

Gene Name

junctional cadherin complex regulator

Synonyms

4931429I11Rik

MMRRC Submission

041794-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.029) question?

Stock #

R4570 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40894849-40964118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40911093 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 583 (I583T)

Ref Sequence

ENSEMBL: ENSMUSP00000034521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034521]

Predicted Effect

probably benign
Transcript: ENSMUST00000034521
AA Change: I583T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: I583T

Domain	Start	End	E-Value	Type
low complexity region	42	51	N/A	INTRINSIC
low complexity region	71	85	N/A	INTRINSIC
low complexity region	216	229	N/A	INTRINSIC
low complexity region	383	398	N/A	INTRINSIC
low complexity region	624	638	N/A	INTRINSIC
Pfam:DUF4591	648	767	7.2e-38	PFAM

Meta Mutation Damage Score

0.1296

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

99% (78/79)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit hydrocephalus, domed cranium, ataxia, weight loss, enlarged lateral ventricle, neuodegeneration, abnormal brain ependymal motile cilium and premature death. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca7	A	G	10: 80,006,694	D1154G	probably damaging	Het
Acsl5	T	A	19: 55,291,774	I493N	probably damaging	Het
Adgrf5	T	A	17: 43,445,115	S450T	probably benign	Het
Ak2	T	C	4: 129,002,167	V79A	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Arfgef2	C	A	2: 166,856,538	Q643K	probably damaging	Het
Asap3	A	G	4: 136,240,185	D605G	probably damaging	Het
BC067074	T	A	13: 113,318,191	V257D	probably damaging	Het
Ccr5	C	T	9: 124,124,875	Q172*	probably null	Het
Cpxm2	T	C	7: 132,143,706	D130G	probably benign	Het
Cxcl12	T	C	6: 117,168,672	V6A	probably benign	Het
Cyp19a1	G	A	9: 54,193,323	P27S	probably benign	Het
Dmxl1	T	C	18: 49,852,360	Y225H	probably damaging	Het
Dpcr1	T	C	17: 35,637,991	T239A	possibly damaging	Het
Dzip1l	A	T	9: 99,647,168	K317*	probably null	Het
Edil3	A	G	13: 89,131,897		probably benign	Het
Enpep	A	T	3: 129,281,548	I707K	possibly damaging	Het
Fcrlb	A	G	1: 170,912,620		probably null	Het
Flt1	C	T	5: 147,594,613	A847T	probably damaging	Het
Fsd2	T	C	7: 81,559,770	D108G	probably benign	Het
Gemin6	C	T	17: 80,228,069	R153*	probably null	Het
Gldc	T	A	19: 30,174,439	M112L	probably benign	Het
Gm10267	C	T	18: 44,156,425	M79I	probably benign	Het
Gm10803	A	G	2: 93,564,252	Y123C	unknown	Het
Gm28040	C	A	1: 133,329,381		probably benign	Het
Gm8674	T	A	13: 49,902,534		noncoding transcript	Het
Gprasp1	C	T	X: 135,802,843	R1262C	probably damaging	Het
Hba-a2	T	C	11: 32,297,200	Y141H	probably damaging	Het
Hmbox1	T	A	14: 64,823,662	I388F	possibly damaging	Het
Hs6st1	G	T	1: 36,103,547	V188L	possibly damaging	Het
Ipmk	T	G	10: 71,372,739	H118Q	probably benign	Het
Kcna2	A	G	3: 107,104,795	I231V	probably benign	Het
Kcnh7	T	C	2: 62,837,095	T367A	possibly damaging	Het
Kcp	A	T	6: 29,491,848	C197*	probably null	Het
Klra2	C	A	6: 131,243,937	C54F	probably damaging	Het
Lcn9	T	C	2: 25,823,579	L39P	probably benign	Het
Lct	T	C	1: 128,299,904	N1284S	probably benign	Het
Map6	T	G	7: 99,336,556	S556A	possibly damaging	Het
Mdn1	C	A	4: 32,741,812	T3861K	probably damaging	Het
Mrps12	A	G	7: 28,739,963	L109P	probably damaging	Het
Mybphl	G	A	3: 108,365,031	C12Y	possibly damaging	Het
Nek9	T	C	12: 85,320,734	K388E	probably damaging	Het
Nvl	A	G	1: 181,144,082	V9A	probably benign	Het
Obscn	T	C	11: 59,006,828		probably null	Het
Olfr90	T	C	17: 37,085,579	I195M	probably damaging	Het
Pik3c3	T	A	18: 30,290,550	I233N	possibly damaging	Het
Pkhd1	T	A	1: 20,381,523	I2183F	probably damaging	Het
Ppara	A	G	15: 85,787,197	I100V	probably benign	Het
Rem2	T	C	14: 54,477,659	S98P	probably damaging	Het
Rpl5-ps2	G	T	2: 154,704,236		noncoding transcript	Het
Scmh1	T	A	4: 120,528,298	H623Q	probably damaging	Het
Scn9a	A	G	2: 66,483,558	S1939P	possibly damaging	Het
Slc6a13	T	C	6: 121,336,142		probably null	Het
Slc7a4	G	A	16: 17,574,277	T431I	probably benign	Het
Snupn	A	G	9: 56,978,062	E217G	probably benign	Het
Spopl	T	A	2: 23,537,485	K212*	probably null	Het
Strn	T	A	17: 78,677,372	T281S	possibly damaging	Het
Supt3	T	A	17: 45,041,229	L265*	probably null	Het
Taf5l	G	A	8: 123,997,550	T510M	probably damaging	Het
Tapbp	C	A	17: 33,926,453	D415E	probably damaging	Het
Tarbp1	A	T	8: 126,452,233	D702E	probably benign	Het
Tfap2c	C	A	2: 172,557,327	P473Q	probably damaging	Het
Tnc	T	C	4: 63,995,672	N1301S	probably damaging	Het
Trim33	A	G	3: 103,330,165	Q179R	probably damaging	Het
Txnrd2	A	G	16: 18,468,804	N335S	probably benign	Het
Uggt1	T	A	1: 36,150,073	D1444V	probably damaging	Het
Ugt3a2	T	C	15: 9,338,721	L57P	probably benign	Het
Vmn2r6	A	T	3: 64,559,647	W144R	probably benign	Het
Vmn2r98	T	A	17: 19,066,092	M284K	probably benign	Het
Zfp558	A	T	9: 18,456,503	C330S	possibly damaging	Het
Zfp703	T	C	8: 26,978,953	V215A	probably benign	Het

Other mutations in Jhy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Jhy	APN	9	40922752	missense	probably benign	0.00
IGL00784:Jhy	APN	9	40922752	missense	probably benign	0.00
IGL01370:Jhy	APN	9	40917142	missense	probably benign	0.00
IGL01433:Jhy	APN	9	40917216	missense	possibly damaging	0.58
IGL01618:Jhy	APN	9	40960964	missense	possibly damaging	0.88
IGL01981:Jhy	APN	9	40895546	missense	probably damaging	1.00
IGL02047:Jhy	APN	9	40917180	missense	probably benign	0.00
IGL02076:Jhy	APN	9	40917378	nonsense	probably null
IGL02093:Jhy	APN	9	40944867	splice site	probably null
IGL02177:Jhy	APN	9	40898257	missense	probably damaging	1.00
IGL02406:Jhy	APN	9	40910989	missense	probably damaging	1.00
IGL02548:Jhy	APN	9	40917175	nonsense	probably null
IGL02550:Jhy	APN	9	40917170	missense	probably benign	0.26
IGL02651:Jhy	APN	9	40917335	missense	probably damaging	1.00
IGL03080:Jhy	APN	9	40944357	missense	probably damaging	1.00
IGL03168:Jhy	APN	9	40917552	missense	possibly damaging	0.92
IGL03384:Jhy	APN	9	40960932	missense	probably benign	0.01
R0980:Jhy	UTSW	9	40944837	missense	possibly damaging	0.91
R1703:Jhy	UTSW	9	40944837	missense	probably damaging	1.00
R1711:Jhy	UTSW	9	40911157	nonsense	probably null
R1767:Jhy	UTSW	9	40961148	missense	probably benign	0.07
R2371:Jhy	UTSW	9	40917482	missense	probably benign	0.32
R2432:Jhy	UTSW	9	40960886	missense	probably benign	0.21
R3840:Jhy	UTSW	9	40944846	missense	probably benign	0.09
R3841:Jhy	UTSW	9	40944846	missense	probably benign	0.09
R4368:Jhy	UTSW	9	40917144	missense	possibly damaging	0.95
R4569:Jhy	UTSW	9	40911093	missense	probably benign
R4669:Jhy	UTSW	9	40961153	missense	probably benign	0.03
R4762:Jhy	UTSW	9	40911198	missense	probably benign
R4902:Jhy	UTSW	9	40897525	intron	probably benign
R4932:Jhy	UTSW	9	40961003	missense	possibly damaging	0.66
R5704:Jhy	UTSW	9	40897438	missense	probably damaging	0.99
R5890:Jhy	UTSW	9	40922662	nonsense	probably null
R6701:Jhy	UTSW	9	40917591	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGACAAGCATGCTTTTATCACC -3'
(R):5'- CAGAAAGCAGTGTTATGGATTCAAG -3'

Sequencing Primer
(F):5'- ACAAGCATGCTTTTATCACCTTTGTG -3'
(R):5'- TTCCCAATGATGGCCGACTAG -3'

Posted On

2015-09-24