Mutagenetix > Incidental Mutation

Incidental Mutation 'R8911:Jhy'

678627

Institutional Source

Beutler Lab

Gene Symbol

Jhy

Ensembl Gene

ENSMUSG00000032023

Gene Name

junctional cadherin complex regulator

Synonyms

4931429I11Rik

MMRRC Submission

068764-MU

Accession Numbers

Essential gene?

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

Stock #

R8911 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40806145-40875414 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 40822453 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 562 (Q562*)

Ref Sequence

ENSEMBL: ENSMUSP00000034521 (fasta)

Gene Model

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

AlphaFold

E9Q793

Predicted Effect

probably null
Transcript: ENSMUST00000034521
AA Change: Q562*

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: Q562*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (76/76)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	A	T	13: 77,429,234 (GRCm39)	I774F	probably benign	Het
3425401B19Rik	A	T	14: 32,383,626 (GRCm39)	C780S	possibly damaging	Het
Abca12	T	C	1: 71,380,690 (GRCm39)	D306G	probably benign	Het
Adgrl2	T	C	3: 148,558,163 (GRCm39)		probably benign	Het
Agt	T	C	8: 125,291,184 (GRCm39)	Y41C	probably benign	Het
Alx3	G	T	3: 107,511,603 (GRCm39)	R204L	probably damaging	Het
Arih2	C	G	9: 108,488,938 (GRCm39)	R260P	probably damaging	Het
Bcl11a	C	T	11: 24,114,763 (GRCm39)	P702L	probably damaging	Het
Bpifa2	A	G	2: 153,851,090 (GRCm39)	N17S	probably benign	Het
Cabcoco1	T	C	10: 68,377,584 (GRCm39)	D35G	probably benign	Het
Cd69	T	C	6: 129,252,187 (GRCm39)	K21R	probably benign	Het
Cdhr18	T	C	14: 13,823,796 (GRCm38)		probably null	Het
Cntn4	T	C	6: 106,330,743 (GRCm39)		probably null	Het
Cntnap5c	A	C	17: 58,506,043 (GRCm39)	N689T	probably damaging	Het
Cog5	A	G	12: 31,883,238 (GRCm39)	Y389C	probably damaging	Het
Col5a1	T	C	2: 27,887,630 (GRCm39)		probably null	Het
Coro1b	G	A	19: 4,200,803 (GRCm39)	R245Q	probably damaging	Het
Csmd1	T	C	8: 16,748,019 (GRCm39)	D244G	probably damaging	Het
Ctcfl	C	T	2: 172,937,121 (GRCm39)		probably null	Het
Dpy19l4	G	A	4: 11,317,078 (GRCm39)	P40L	possibly damaging	Het
Dsg4	C	A	18: 20,584,929 (GRCm39)	Y214*	probably null	Het
Eapp	A	T	12: 54,739,440 (GRCm39)		probably benign	Het
Fmo6	T	C	1: 162,748,114 (GRCm39)	T317A	possibly damaging	Het
Gm11595	A	G	11: 99,663,564 (GRCm39)	C39R	unknown	Het
Golim4	T	C	3: 75,813,703 (GRCm39)		probably benign	Het
Greb1	G	A	12: 16,740,903 (GRCm39)	S1393L	possibly damaging	Het
Guca1b	A	G	17: 47,700,044 (GRCm39)	I73V	probably benign	Het
Hdac7	C	T	15: 97,694,789 (GRCm39)	V796I	possibly damaging	Het
Hectd1	A	G	12: 51,795,616 (GRCm39)	I2271T	probably damaging	Het
Heg1	T	G	16: 33,558,627 (GRCm39)	Y1066*	probably null	Het
Helz2	C	A	2: 180,880,173 (GRCm39)	K514N		Het
Ice1	C	T	13: 70,740,787 (GRCm39)	R70Q		Het
Il18rap	C	T	1: 40,582,177 (GRCm39)	T366M	probably benign	Het
Itgae	A	G	11: 73,004,447 (GRCm39)	T245A	probably damaging	Het
Khnyn	A	G	14: 56,124,735 (GRCm39)	R330G	probably benign	Het
Lamc2	A	T	1: 153,027,873 (GRCm39)	C184S	probably damaging	Het
Lhx5	T	A	5: 120,574,509 (GRCm39)	L271*	probably null	Het
Magel2	G	A	7: 62,029,537 (GRCm39)	V814M	unknown	Het
Manf	A	G	9: 106,767,461 (GRCm39)	I85T	possibly damaging	Het
Mgmt	A	G	7: 136,729,794 (GRCm39)	T203A	probably benign	Het
Mmp9	C	T	2: 164,794,568 (GRCm39)	S520F	possibly damaging	Het
Myrip	A	G	9: 120,270,484 (GRCm39)	E578G	possibly damaging	Het
Naaladl2	A	G	3: 23,900,757 (GRCm39)	M691T	probably damaging	Het
Ncln	C	T	10: 81,323,519 (GRCm39)	V51I	probably benign	Het
Or2n1d	A	T	17: 38,646,320 (GRCm39)	T91S	possibly damaging	Het
Or4c112	T	C	2: 88,854,294 (GRCm39)	N18D	probably benign	Het
Or4c117	T	C	2: 88,955,608 (GRCm39)	I156V	probably benign	Het
Pcdhga12	A	T	18: 37,900,118 (GRCm39)	M317L	possibly damaging	Het
Pcnt	T	G	10: 76,223,359 (GRCm39)	K1941T	probably damaging	Het
Pde4dip	A	T	3: 97,650,917 (GRCm39)	M896K	probably benign	Het
Pfkfb3	A	T	2: 11,487,254 (GRCm39)		probably null	Het
Pik3cb	A	G	9: 98,946,201 (GRCm39)	S542P	probably benign	Het
Pik3cg	A	G	12: 32,247,257 (GRCm39)	V822A	probably benign	Het
Plcl2	G	T	17: 50,915,141 (GRCm39)	G717C	probably damaging	Het
Ptprs	C	T	17: 56,730,320 (GRCm39)	A1185T	probably benign	Het
Ptpru	T	A	4: 131,503,560 (GRCm39)	I1157F	probably damaging	Het
Rbbp6	A	G	7: 122,591,268 (GRCm39)	T457A	possibly damaging	Het
Rdh16f2	A	G	10: 127,712,812 (GRCm39)	E270G	probably damaging	Het
Rrp15	C	T	1: 186,453,641 (GRCm39)	E269K	unknown	Het
Sec23b	T	C	2: 144,401,316 (GRCm39)	V59A	probably benign	Het
Slc22a21	A	T	11: 53,846,809 (GRCm39)		probably null	Het
Sp5	C	A	2: 70,306,962 (GRCm39)	P216T	probably benign	Het
Synj1	A	T	16: 90,775,622 (GRCm39)	D385E	probably damaging	Het
Trim37	C	T	11: 87,097,629 (GRCm39)	S808F	possibly damaging	Het
Tsks	A	T	7: 44,592,694 (GRCm39)		probably benign	Het
Upf1	A	T	8: 70,791,087 (GRCm39)	S563T	possibly damaging	Het
Upf2	A	G	2: 5,987,893 (GRCm39)	D580G	unknown	Het
Usp14	A	G	18: 9,996,194 (GRCm39)	I462T	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vmn1r184	C	G	7: 25,966,310 (GRCm39)	Q19E	possibly damaging	Het
Vps50	C	A	6: 3,516,710 (GRCm39)	A64E	probably benign	Het
Zc3h11a	T	A	1: 133,566,339 (GRCm39)	N211I	probably damaging	Het
Zfp518a	A	C	19: 40,901,870 (GRCm39)	K600Q	possibly damaging	Het
Zfp729a	A	T	13: 67,768,061 (GRCm39)	S723T	probably benign	Het
Zmynd12	A	T	4: 119,294,286 (GRCm39)	I88F	probably 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
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
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'- CAGGTAGCCTTCCGAATTACTACG -3'
(R):5'- CAGAAAGCAGTGTTATGGATTCAAG -3'

Sequencing Primer
(F):5'- GAATTACTACGGGCCATCTTCAC -3'
(R):5'- CCCTGTACTGGGGCATATAAAG -3'

Posted On

2021-08-02