Mutagenetix > Incidental Mutation

Incidental Mutation 'R4902:Jhy'

377885

Institutional Source

Beutler Lab

Gene Symbol

Jhy

Ensembl Gene

ENSMUSG00000032023

Gene Name

junctional cadherin complex regulator

Synonyms

4931429I11Rik

MMRRC Submission

042505-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R4902 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

40806145-40875414 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 40808821 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000034521 (fasta)

Gene Model

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

AlphaFold

E9Q793

Predicted Effect

probably benign
Transcript: ENSMUST00000034521

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162122

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.0%

Validation Efficiency

100% (84/84)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,408 (GRCm39)		noncoding transcript	Het
Adamdec1	T	C	14: 68,809,215 (GRCm39)	N249S	probably damaging	Het
Asxl1	T	A	2: 153,241,751 (GRCm39)	V767E	probably benign	Het
Atp6v1f	T	C	6: 29,470,271 (GRCm39)		probably benign	Het
Brix1	T	C	15: 10,483,378 (GRCm39)		probably null	Het
Cap2	T	C	13: 46,684,501 (GRCm39)	V2A	probably damaging	Het
Chrnb2	A	G	3: 89,668,248 (GRCm39)	C356R	probably damaging	Het
Chtf8	C	T	8: 107,612,424 (GRCm39)	G172R	probably damaging	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dact2	T	A	17: 14,416,991 (GRCm39)	K403M	possibly damaging	Het
Dhx40	A	C	11: 86,662,036 (GRCm39)	L674V	possibly damaging	Het
Dlc1	A	G	8: 37,044,285 (GRCm39)	V1230A	probably damaging	Het
Dnah7b	T	A	1: 46,329,935 (GRCm39)	S3260T	probably benign	Het
Eef1a2	T	A	2: 180,789,881 (GRCm39)	D428V	probably benign	Het
Ehd1	T	C	19: 6,344,273 (GRCm39)	F178L	possibly damaging	Het
Eif4a3l1	T	G	6: 136,306,262 (GRCm39)	V241G	probably benign	Het
F2	A	T	2: 91,465,316 (GRCm39)		probably benign	Het
Fam186a	T	C	15: 99,844,723 (GRCm39)	D507G	unknown	Het
Fbxo11	G	A	17: 88,372,702 (GRCm39)		probably benign	Het
Fry	A	T	5: 150,419,168 (GRCm39)	M2871L	probably benign	Het
Gabrr2	A	G	4: 33,095,512 (GRCm39)	D442G	probably damaging	Het
Gemin5	A	G	11: 58,055,103 (GRCm39)	I214T	probably benign	Het
Gfra2	A	G	14: 71,204,455 (GRCm39)	N175S	probably damaging	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Krtap5-5	A	T	7: 141,783,156 (GRCm39)	C165S	unknown	Het
Lce1k	T	A	3: 92,714,134 (GRCm39)	T17S	unknown	Het
Map3k1	C	T	13: 111,909,146 (GRCm39)	R268Q	probably damaging	Het
Med13l	T	A	5: 118,883,195 (GRCm39)	H1351Q	probably damaging	Het
Met	T	C	6: 17,546,995 (GRCm39)	V876A	probably damaging	Het
Mical2	T	C	7: 111,936,107 (GRCm39)	S903P	probably benign	Het
Mkks	A	G	2: 136,718,094 (GRCm39)	V396A	probably benign	Het
Mvk	T	C	5: 114,594,060 (GRCm39)	V305A	probably benign	Het
Myo5a	A	G	9: 75,081,360 (GRCm39)	T982A	probably benign	Het
N4bp1	A	G	8: 87,588,311 (GRCm39)	V209A	probably benign	Het
Nfkbib	G	T	7: 28,461,173 (GRCm39)	S158*	probably null	Het
Nkx3-1	G	A	14: 69,428,367 (GRCm39)	G72S	probably benign	Het
Ogfr	A	G	2: 180,235,518 (GRCm39)		probably benign	Het
Or10a3	G	A	7: 108,480,624 (GRCm39)	T63I	probably benign	Het
Or2t43	G	A	11: 58,457,451 (GRCm39)	S240F	possibly damaging	Het
Or8s8	T	C	15: 98,354,796 (GRCm39)	S202P	probably damaging	Het
Pcdhga8	T	A	18: 37,948,978 (GRCm39)	D131E	probably damaging	Het
Plch1	A	G	3: 63,648,264 (GRCm39)		probably benign	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Ppp1r12a	T	C	10: 108,066,451 (GRCm39)	V214A	probably damaging	Het
Prr5l	A	G	2: 101,628,027 (GRCm39)		probably benign	Het
Prss35	A	G	9: 86,638,175 (GRCm39)	Q315R	probably damaging	Het
Psg29	G	T	7: 16,945,837 (GRCm39)	*469L	probably null	Het
Psmd4	A	G	3: 94,943,170 (GRCm39)	V78A	probably damaging	Het
Rad9a	C	A	19: 4,251,552 (GRCm39)		probably benign	Het
Rfx7	G	T	9: 72,524,573 (GRCm39)	V588F	probably benign	Het
Rnase13	A	C	14: 52,160,052 (GRCm39)	I29S	probably benign	Het
Steap2	T	C	5: 5,725,866 (GRCm39)	N386S	possibly damaging	Het
Ston1	A	G	17: 88,952,680 (GRCm39)	E719G	probably damaging	Het
Stx4a	A	G	7: 127,441,934 (GRCm39)		probably null	Het
Tekt2	A	G	4: 126,217,263 (GRCm39)	S212P	possibly damaging	Het
Tex19.2	A	T	11: 121,007,782 (GRCm39)	L222Q	probably damaging	Het
Tmem50a	A	G	4: 134,637,017 (GRCm39)	I38T	probably damaging	Het
Ubr2	A	G	17: 47,296,922 (GRCm39)	V286A	possibly damaging	Het
Ugt2b35	T	C	5: 87,151,159 (GRCm39)	M255T	possibly damaging	Het
Vmn2r17	T	A	5: 109,601,220 (GRCm39)	F839L	probably benign	Het
Wdr36	T	C	18: 32,992,314 (GRCm39)	V617A	possibly damaging	Het
Wtip	A	T	7: 33,818,437 (GRCm39)		probably null	Het
Yeats2	G	A	16: 20,026,418 (GRCm39)	G765S	probably benign	Het
Zbtb3	T	C	19: 8,781,331 (GRCm39)	S315P	probably benign	Het
Zdhhc8	T	C	16: 18,045,030 (GRCm39)	M259V	probably benign	Het
Zfp120	A	G	2: 149,961,440 (GRCm39)		probably benign	Het
Zfp236	A	T	18: 82,627,543 (GRCm39)	I1552N	possibly damaging	Het

Other mutations in Jhy

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00783:Jhy	APN	9	40,834,048 (GRCm39)	missense	probably benign	0.00
IGL00784:Jhy	APN	9	40,834,048 (GRCm39)	missense	probably benign	0.00
IGL01370:Jhy	APN	9	40,828,438 (GRCm39)	missense	probably benign	0.00
IGL01433:Jhy	APN	9	40,828,512 (GRCm39)	missense	possibly damaging	0.58
IGL01618:Jhy	APN	9	40,872,260 (GRCm39)	missense	possibly damaging	0.88
IGL01981:Jhy	APN	9	40,806,842 (GRCm39)	missense	probably damaging	1.00
IGL02047:Jhy	APN	9	40,828,476 (GRCm39)	missense	probably benign	0.00
IGL02076:Jhy	APN	9	40,828,674 (GRCm39)	nonsense	probably null
IGL02093:Jhy	APN	9	40,856,163 (GRCm39)	splice site	probably null
IGL02177:Jhy	APN	9	40,809,553 (GRCm39)	missense	probably damaging	1.00
IGL02406:Jhy	APN	9	40,822,285 (GRCm39)	missense	probably damaging	1.00
IGL02548:Jhy	APN	9	40,828,471 (GRCm39)	nonsense	probably null
IGL02550:Jhy	APN	9	40,828,466 (GRCm39)	missense	probably benign	0.26
IGL02651:Jhy	APN	9	40,828,631 (GRCm39)	missense	probably damaging	1.00
IGL03080:Jhy	APN	9	40,855,653 (GRCm39)	missense	probably damaging	1.00
IGL03168:Jhy	APN	9	40,828,848 (GRCm39)	missense	possibly damaging	0.92
IGL03384:Jhy	APN	9	40,872,228 (GRCm39)	missense	probably benign	0.01
R0980:Jhy	UTSW	9	40,856,133 (GRCm39)	missense	possibly damaging	0.91
R1703:Jhy	UTSW	9	40,856,133 (GRCm39)	missense	probably damaging	1.00
R1711:Jhy	UTSW	9	40,822,453 (GRCm39)	nonsense	probably null
R1767:Jhy	UTSW	9	40,872,444 (GRCm39)	missense	probably benign	0.07
R2371:Jhy	UTSW	9	40,828,778 (GRCm39)	missense	probably benign	0.32
R2432:Jhy	UTSW	9	40,872,182 (GRCm39)	missense	probably benign	0.21
R3840:Jhy	UTSW	9	40,856,142 (GRCm39)	missense	probably benign	0.09
R3841:Jhy	UTSW	9	40,856,142 (GRCm39)	missense	probably benign	0.09
R4368:Jhy	UTSW	9	40,828,440 (GRCm39)	missense	possibly damaging	0.95
R4569:Jhy	UTSW	9	40,822,389 (GRCm39)	missense	probably benign
R4570:Jhy	UTSW	9	40,822,389 (GRCm39)	missense	probably benign
R4669:Jhy	UTSW	9	40,872,449 (GRCm39)	missense	probably benign	0.03
R4762:Jhy	UTSW	9	40,822,494 (GRCm39)	missense	probably benign
R4932:Jhy	UTSW	9	40,872,299 (GRCm39)	missense	possibly damaging	0.66
R5704:Jhy	UTSW	9	40,808,734 (GRCm39)	missense	probably damaging	0.99
R5890:Jhy	UTSW	9	40,833,958 (GRCm39)	nonsense	probably null
R6701:Jhy	UTSW	9	40,828,887 (GRCm39)	missense	probably damaging	0.99
R7110:Jhy	UTSW	9	40,828,556 (GRCm39)	missense	probably damaging	1.00
R7266:Jhy	UTSW	9	40,872,453 (GRCm39)	missense	probably benign	0.00
R8134:Jhy	UTSW	9	40,872,188 (GRCm39)	missense	probably null
R8784:Jhy	UTSW	9	40,872,182 (GRCm39)	missense	probably benign	0.00
R8911:Jhy	UTSW	9	40,822,453 (GRCm39)	nonsense	probably null
R9027:Jhy	UTSW	9	40,828,823 (GRCm39)	missense	probably benign	0.30
R9737:Jhy	UTSW	9	40,808,748 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACCTTCTTCCGAGAAATCGC -3'
(R):5'- GAGTCTAGTTCAAAGTTGGAAGC -3'

Sequencing Primer
(F):5'- CGCAGATTTACTCTCGGTTTTTG -3'
(R):5'- CTAGTTCAAAGTTGGAAGCAAAAATG -3'

Posted On

2016-04-15