Mutagenetix > Incidental Mutation

Incidental Mutation 'R9737:Jhy'

731703

Institutional Source

Beutler Lab

Gene Symbol

Jhy

Ensembl Gene

ENSMUSG00000032023

Gene Name

junctional cadherin complex regulator

Synonyms

4931429I11Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.071) question?

Stock #

R9737 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40806145-40875414 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 40808748 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 671 (E671G)

Ref Sequence

ENSEMBL: ENSMUSP00000034521 (fasta)

Gene Model

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

AlphaFold

E9Q793

Predicted Effect

probably damaging
Transcript: ENSMUST00000034521
AA Change: E671G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: E671G

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

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adnp	T	C	2: 168,026,918 (GRCm39)	K126E	possibly damaging	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Ccnjl	C	A	11: 43,476,166 (GRCm39)	T263K	probably benign	Het
Cfhr4	A	T	1: 139,708,872 (GRCm39)	I12N	probably damaging	Het
D6Ertd527e	G	C	6: 87,088,839 (GRCm39)	S334T	unknown	Het
Epha2	A	G	4: 141,045,814 (GRCm39)	E446G	probably benign	Het
Gtf2ird1	A	G	5: 134,408,794 (GRCm39)	Y702H	probably damaging	Het
Igkv10-96	T	C	6: 68,608,957 (GRCm39)	T113A	probably benign	Het
Ngdn	A	G	14: 55,259,339 (GRCm39)	K161R	possibly damaging	Het
Pabpc4l	A	G	3: 46,401,267 (GRCm39)	S126P	probably damaging	Het
Phlpp2	G	A	8: 110,663,714 (GRCm39)	D918N	probably damaging	Het
Pkd2	A	T	5: 104,651,349 (GRCm39)	H899L	possibly damaging	Het
Pou6f1	A	G	15: 100,481,282 (GRCm39)	S301P	probably benign	Het
Sidt1	A	G	16: 44,102,243 (GRCm39)	Y306H	probably damaging	Het
Trav13-1	A	T	14: 53,782,510 (GRCm39)	T14S	probably benign	Het
Vmn2r99	A	C	17: 19,582,563 (GRCm39)	E56A	probably benign	Het
Vnn3	A	G	10: 23,741,813 (GRCm39)	M373V	probably benign	Het
Zkscan5	A	G	5: 145,142,136 (GRCm39)	H11R	probably benign	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
R4902:Jhy	UTSW	9	40,808,821 (GRCm39)	intron	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

Predicted Primers

PCR Primer
(F):5'- GACCTGTAAGTGTAGGAATGACTG -3'
(R):5'- ACTCAGCAGATTCTCCAGGG -3'

Sequencing Primer
(F):5'- GACTGTTTCTGAACATCCAAGC -3'
(R):5'- GGAAACGTTAACCAGTTCACTGCTG -3'

Posted On

2022-11-14