Mutagenetix > Incidental Mutation

Incidental Mutation 'R8134:Jhy'

632178

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: 0.057) question?

Stock #

R8134 (G1)

Quality Score

216.009

Status

Validated

Chromosome

Chromosomal Location

40894849-40964118 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40960892 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 107 (V107A)

Ref Sequence

ENSEMBL: ENSMUSP00000124975 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034521] [ENSMUST00000160120]

AlphaFold

E9Q793

Predicted Effect

probably benign
Transcript: ENSMUST00000034521
AA Change: V107A

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

SMART Domains

Protein: ENSMUSP00000034521
Gene: ENSMUSG00000032023
AA Change: V107A

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

probably null
Transcript: ENSMUST00000160120
AA Change: V107A

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

SMART Domains

Protein: ENSMUSP00000124975
Gene: ENSMUSG00000032023
AA Change: V107A

Domain	Start	End	E-Value	Type
low complexity region	42	51	N/A	INTRINSIC
low complexity region	71	85	N/A	INTRINSIC

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.5%
20x: 93.5%

Validation Efficiency

99% (71/72)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	G	A	8: 79,699,353	P265L	probably benign	Het
Adam20	A	G	8: 40,796,064	T404A	probably benign	Het
Anp32a	G	T	9: 62,377,581	R237L	unknown	Het
Ascc3	A	G	10: 50,767,458	D1835G	probably benign	Het
Atg9b	A	G	5: 24,385,222		probably null	Het
Bard1	A	T	1: 71,067,138	N443K	probably damaging	Het
Btnl1	A	G	17: 34,385,673	D476G	possibly damaging	Het
C2cd3	A	T	7: 100,418,504	I487F		Het
Cadm4	A	G	7: 24,503,605	E384G	possibly damaging	Het
Camsap3	A	G	8: 3,598,075	K128E	probably benign	Het
Casz1	C	T	4: 148,943,035	P1005S	probably damaging	Het
Cd38	C	A	5: 43,901,448	L135M	probably damaging	Het
Cdk20	A	G	13: 64,437,920	E244G	probably benign	Het
Cfap54	A	T	10: 92,878,516	V2667D	unknown	Het
Col11a1	A	G	3: 114,218,786	K1792E	unknown	Het
Cpne9	A	T	6: 113,295,042	D377V	probably benign	Het
Csmd1	A	T	8: 15,932,550	C2706S	probably damaging	Het
Ctnnbl1	T	C	2: 157,809,471	V222A	probably benign	Het
Frmpd2	T	C	14: 33,505,495	S277P	probably benign	Het
Gm15922	A	G	7: 3,735,839	S590P	probably damaging	Het
Herc2	C	T	7: 56,085,136	T158I	probably benign	Het
Hoxa4	G	T	6: 52,190,557	H215N	possibly damaging	Het
Hpd	G	T	5: 123,174,380	Q309K	probably benign	Het
Il20ra	A	G	10: 19,750,704	T159A	probably damaging	Het
Ints10	T	A	8: 68,802,986	Y209*	probably null	Het
Ints2	A	G	11: 86,212,660	I1190T	probably damaging	Het
Kdm4d	C	T	9: 14,463,236	R442H	probably damaging	Het
Kif1bp	T	C	10: 62,577,977	Y134C	probably benign	Het
Klb	A	T	5: 65,383,615	H1017L	probably benign	Het
Kndc1	T	A	7: 139,901,369		probably null	Het
Krtap4-1	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	GGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGCTGCAGCAAGGGCTGCAGCAGGGGC	11: 99,627,834		probably benign	Het
Lrrn3	T	C	12: 41,453,048	I423M	probably damaging	Het
Magi2	T	G	5: 20,391,367	F274L	probably damaging	Het
Magi2	T	A	5: 20,391,394	D283E	probably benign	Het
Map3k19	A	C	1: 127,823,755	S620A	probably damaging	Het
Meis2	C	T	2: 115,866,888	M388I	probably benign	Het
Ms4a3	G	C	19: 11,638,249	H54Q	probably benign	Het
Nfe2l1	A	T	11: 96,819,759	M548K	possibly damaging	Het
Ninl	C	T	2: 150,950,314	C763Y	probably benign	Het
Numa1	T	C	7: 102,001,627	F1522L	probably benign	Het
Olfr1344	T	C	7: 6,438,923		probably benign	Het
Olfr539	T	A	7: 140,667,767	I153N	possibly damaging	Het
Pcdhgc3	G	A	18: 37,806,863	V106I	probably benign	Het
Phf3	A	G	1: 30,824,471	V152A	unknown	Het
Plcg2	A	T	8: 117,557,318	D118V	probably damaging	Het
Pnpla1	A	G	17: 28,878,469	D203G	probably damaging	Het
Ppip5k2	A	T	1: 97,745,163	M474K	probably benign	Het
Ppp1r12b	T	C	1: 134,886,542	E341G	possibly damaging	Het
Rictor	C	T	15: 6,772,154	S441L	probably benign	Het
Rrs1	C	T	1: 9,545,420		probably benign	Het
Scaf11	T	C	15: 96,420,711	N324S	probably damaging	Het
Spaca1	T	A	4: 34,042,157		probably null	Het
Sun3	G	T	11: 9,029,346	D118E	probably benign	Het
Svop	C	T	5: 114,042,931	V215I	probably benign	Het
Tbc1d15	A	T	10: 115,209,569	C497S	probably damaging	Het
Tdrd6	A	T	17: 43,626,173	I1328N	probably damaging	Het
Tuba8	T	A	6: 121,221,422	D116E	probably benign	Het
Ube2z	A	G	11: 96,058,374	I213T	possibly damaging	Het
Ubqln4	G	A	3: 88,555,490		probably null	Het
Vps13a	A	G	19: 16,654,354	I2639T	possibly damaging	Het
Zfp217	G	A	2: 170,119,651	S252F	possibly damaging	Het
Zfp94	A	T	7: 24,303,741	V92E	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
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
R7110:Jhy	UTSW	9	40917260	missense	probably damaging	1.00
R7266:Jhy	UTSW	9	40961157	missense	probably benign	0.00
R8784:Jhy	UTSW	9	40960886	missense	probably benign	0.00
R8911:Jhy	UTSW	9	40911157	nonsense	probably null
R9027:Jhy	UTSW	9	40917527	missense	probably benign	0.30
R9737:Jhy	UTSW	9	40897452	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCATGTTCTTGACGCTCCTAC -3'
(R):5'- GGATTCAGAAAGCCTCCCTC -3'

Sequencing Primer
(F):5'- TTGACGCTCCTACACCCAG -3'
(R):5'- TCAAGAGGCTAAGTCCTGGTC -3'

Posted On

2020-06-30