Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02651:Jhy'

302140

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jhy

Ensembl Gene

ENSMUSG00000032023

Gene Name

junctional cadherin complex regulator

Synonyms

4931429I11Rik

Accession Numbers

Is this an essential gene?

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

Stock #

IGL02651

Quality Score

Status

Chromosome

Chromosomal Location

40894849-40964118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40917335 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 425 (L425P)

Ref Sequence

ENSEMBL: ENSMUSP00000034521 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000034521
AA Change: L425P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: L425P

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

Coding Region Coverage

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	G	A	19: 31,932,506	G233S	probably benign	Het
Abcc1	T	A	16: 14,466,126	C1202S	probably benign	Het
Acaca	C	T	11: 84,245,204		probably benign	Het
Ap3b1	T	A	13: 94,477,021	F676Y	probably damaging	Het
Arhgef11	C	A	3: 87,698,864	Q309K	probably damaging	Het
Asgr1	T	C	11: 70,057,130	Y80H	possibly damaging	Het
Atp13a5	A	T	16: 29,334,091		probably benign	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp8b2	A	C	3: 89,954,589		probably null	Het
Btnl2	A	G	17: 34,356,222	M1V	probably null	Het
Cpsf3	T	A	12: 21,293,297	M121K	probably damaging	Het
Creb3l3	A	G	10: 81,084,834	I454T	probably benign	Het
Cyp2d12	A	G	15: 82,556,740	E153G	probably damaging	Het
Dnah5	A	G	15: 28,350,622	I2597V	probably benign	Het
Ercc5	C	A	1: 44,156,944	S32R	probably damaging	Het
Fchsd2	T	A	7: 101,277,600	N656K	possibly damaging	Het
Fga	G	A	3: 83,028,534	E23K	probably benign	Het
Fn1	T	C	1: 71,597,676	T1925A	possibly damaging	Het
Fstl5	A	T	3: 76,593,534	E423D	probably damaging	Het
Glg1	C	T	8: 111,160,727	M465I	possibly damaging	Het
H2-M10.4	C	A	17: 36,460,656	R210L	probably benign	Het
Hbb-y	T	G	7: 103,852,750	K105Q	probably benign	Het
Hspg2	A	T	4: 137,557,445		probably benign	Het
Ipo11	T	C	13: 106,875,606	Y556C	probably damaging	Het
Itpr3	A	G	17: 27,106,398	M1322V	probably damaging	Het
Krt26	C	T	11: 99,333,645	R349Q	probably benign	Het
Ms4a6c	A	T	19: 11,478,305	E159D	possibly damaging	Het
Msh6	A	T	17: 87,989,515	L1213F	probably damaging	Het
Npy1r	A	C	8: 66,705,023	R328S	possibly damaging	Het
Olfr1247	A	T	2: 89,609,498	N201K	possibly damaging	Het
Olfr988	A	C	2: 85,353,050	L292R	probably damaging	Het
Pcdhb18	T	G	18: 37,491,181	Y521*	probably null	Het
Pkhd1l1	A	T	15: 44,483,814	Y192F	probably damaging	Het
Rdh12	T	A	12: 79,222,052	I301N	probably damaging	Het
Rptor	T	C	11: 119,892,612	V1144A	possibly damaging	Het
Sap25	T	C	5: 137,642,370	F171L	possibly damaging	Het
Senp5	A	G	16: 31,990,079	L92P	probably benign	Het
Sfmbt1	T	C	14: 30,815,537	S736P	probably damaging	Het
Tacr1	T	C	6: 82,492,641	S169P	probably damaging	Het
Tbc1d21	A	T	9: 58,363,101	Y130*	probably null	Het
Tle2	G	A	10: 81,586,889	G428D	probably damaging	Het
Tmem117	T	A	15: 95,094,561	N367K	probably damaging	Het
Tmem210	A	G	2: 25,289,089	T130A	possibly damaging	Het
Ttn	T	G	2: 76,850,024		probably benign	Het
Ttyh1	T	C	7: 4,124,679	L122P	probably damaging	Het
Vmn2r60	T	C	7: 42,195,586	F791S	probably damaging	Het
Vps13d	A	T	4: 145,164,559	N575K	probably benign	Het
Vps8	T	C	16: 21,517,336	V746A	probably damaging	Het
Wdfy3	A	T	5: 101,896,475	M1888K	probably benign	Het
Zfp595	T	C	13: 67,320,953	D3G	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
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
R4570: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

Posted On

2015-04-16