Mutagenetix > Incidental Mutation

Incidental Mutation 'R8882:Jrk'

677001

Institutional Source

Beutler Lab

Gene Symbol

Jrk

Ensembl Gene

ENSMUSG00000046380

Gene Name

jerky

Synonyms

MMRRC Submission

068750-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.105) question?

Stock #

R8882 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74574261-74581171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 74579004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 94 (Y94H)

Ref Sequence

ENSEMBL: ENSMUSP00000051842 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050234]

AlphaFold

Q60976

Predicted Effect

probably damaging
Transcript: ENSMUST00000050234
AA Change: Y94H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: Y94H

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	14	66	5.3e-27	PFAM
CENPB	83	149	8.82e-24	SMART
Pfam:DDE_1	213	382	2.2e-46	PFAM
low complexity region	395	405	N/A	INTRINSIC
low complexity region	468	481	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (55/55)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a conserved protein that is similar to DNA-binding proteins, such as major centromere autoantigen B (CENPB). Inactivation of the related gene in mice resulted in epileptic seizures. Childhood Absence Epilepsy (CAE) has been mapped to the same chromosomal location (8q24.3) as this gene. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
PHENOTYPE: Heterozygous mutants show whole body jerks, clonic seizures and epileptic brain activity. Homozygous mutants show elevated seizure susceptibility, impaired postnatal growth, reduced life span, male sterility and impaired female fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	A	T	13: 111,392,033 (GRCm39)	I123L	probably benign	Het
Adam18	T	C	8: 25,136,438 (GRCm39)	D361G	probably benign	Het
Adcyap1r1	G	A	6: 55,468,219 (GRCm39)	V352M	possibly damaging	Het
Ahnak	T	C	19: 8,978,106 (GRCm39)	L75P	probably damaging	Het
Arhgap23	T	C	11: 97,355,949 (GRCm39)	S856P	probably benign	Het
Asprv1	G	T	6: 86,605,349 (GRCm39)	C65F	probably benign	Het
Atp2b4	A	T	1: 133,654,193 (GRCm39)		probably null	Het
Cd55	A	G	1: 130,387,501 (GRCm39)	V99A	probably benign	Het
Cit	G	A	5: 116,001,089 (GRCm39)	A163T	probably benign	Het
Dnah6	A	T	6: 73,155,481 (GRCm39)	D711E	probably benign	Het
Dnajc15	A	T	14: 78,094,411 (GRCm39)	V41E	probably damaging	Het
Dock2	GCACACACACA	GCACACACACACA	11: 34,595,436 (GRCm39)	453	probably null	Het
Dst	T	C	1: 34,240,005 (GRCm39)	S1785P	probably damaging	Het
Efhb	A	G	17: 53,769,712 (GRCm39)	V199A	probably damaging	Het
Esyt3	C	T	9: 99,202,909 (GRCm39)	G498D	probably damaging	Het
Fbxo11	A	G	17: 88,304,957 (GRCm39)	I562T		Het
Fh1	C	T	1: 175,437,353 (GRCm39)	V249I	possibly damaging	Het
Gdpgp1	T	C	7: 79,888,704 (GRCm39)	I245T	possibly damaging	Het
Hinfp	A	G	9: 44,209,629 (GRCm39)		probably null	Het
Hip1r	A	G	5: 124,140,025 (GRCm39)	K1043E	probably damaging	Het
Htt	G	A	5: 34,979,061 (GRCm39)	V815I	probably benign	Het
Krit1	T	A	5: 3,886,864 (GRCm39)	N704K	possibly damaging	Het
Mmp17	A	G	5: 129,679,008 (GRCm39)	D331G	probably benign	Het
Nlrp9a	T	A	7: 26,257,703 (GRCm39)	Y440*	probably null	Het
Nphp3	A	G	9: 103,882,793 (GRCm39)	T216A	possibly damaging	Het
Or1e1f	T	G	11: 73,855,940 (GRCm39)	C169G	probably damaging	Het
Or4a79	G	T	2: 89,551,740 (GRCm39)	C238*	probably null	Het
Or5ae2	T	C	7: 84,505,681 (GRCm39)	Y37H	probably damaging	Het
Or7e176	T	C	9: 20,171,256 (GRCm39)	F40S	probably benign	Het
Or8c15	T	A	9: 38,120,461 (GRCm39)	Y35*	probably null	Het
Parva	T	C	7: 112,027,211 (GRCm39)	S14P	probably benign	Het
Pax6	A	C	2: 105,521,963 (GRCm39)	N207H	possibly damaging	Het
Pde6a	A	G	18: 61,378,619 (GRCm39)	N314S		Het
Phlpp1	T	A	1: 106,320,372 (GRCm39)	S1456T	probably benign	Het
Plxnc1	A	G	10: 94,677,428 (GRCm39)	V933A	probably damaging	Het
Rasgef1b	A	G	5: 99,524,860 (GRCm39)	S100P	probably benign	Het
Rpn2	A	G	2: 157,136,102 (GRCm39)	H170R	probably benign	Het
Sbds	A	G	5: 130,282,778 (GRCm39)		probably null	Het
Scube2	G	C	7: 109,451,680 (GRCm39)	L158V	probably damaging	Het
Slc16a12	C	A	19: 34,649,854 (GRCm39)	V394L	probably benign	Het
Slc23a2	A	T	2: 131,933,159 (GRCm39)	Y100N	possibly damaging	Het
Slc30a9	G	T	5: 67,473,044 (GRCm39)	E43*	probably null	Het
Specc1l	A	T	10: 75,065,689 (GRCm39)	M1L	unknown	Het
Sspo	T	A	6: 48,452,390 (GRCm39)	C2785S	probably damaging	Het
Star	T	C	8: 26,302,897 (GRCm39)	S280P	probably benign	Het
Strip1	A	T	3: 107,534,341 (GRCm39)	M127K	probably benign	Het
Tbx19	C	T	1: 164,966,780 (GRCm39)	V365M	probably benign	Het
Tex2	T	C	11: 106,435,062 (GRCm39)	D788G	unknown	Het
Tspyl1	A	G	10: 34,158,494 (GRCm39)	E73G	possibly damaging	Het
Ulk2	C	T	11: 61,698,887 (GRCm39)		probably null	Het
Vmn2r120	A	T	17: 57,852,229 (GRCm39)	M29K	probably benign	Het
Vmn2r60	C	A	7: 41,790,518 (GRCm39)	Q502K	probably benign	Het
Xpo5	A	G	17: 46,538,666 (GRCm39)	D624G	possibly damaging	Het
Zfp119b	T	C	17: 56,246,923 (GRCm39)	R88G	possibly damaging	Het
Zfp879	C	A	11: 50,724,763 (GRCm39)	E98*	probably null	Het

Other mutations in Jrk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Jrk	UTSW	15	74,578,005 (GRCm39)	missense	probably benign	0.01
R1871:Jrk	UTSW	15	74,578,412 (GRCm39)	missense	possibly damaging	0.91
R3417:Jrk	UTSW	15	74,578,734 (GRCm39)	missense	probably damaging	0.96
R4867:Jrk	UTSW	15	74,579,069 (GRCm39)	missense	probably benign	0.00
R5294:Jrk	UTSW	15	74,579,185 (GRCm39)	missense	possibly damaging	0.88
R5769:Jrk	UTSW	15	74,577,917 (GRCm39)	missense	probably benign	0.19
R5911:Jrk	UTSW	15	74,577,617 (GRCm39)	missense	possibly damaging	0.88
R6123:Jrk	UTSW	15	74,578,529 (GRCm39)	missense	possibly damaging	0.46
R6176:Jrk	UTSW	15	74,578,189 (GRCm39)	missense	possibly damaging	0.47
R7411:Jrk	UTSW	15	74,579,048 (GRCm39)	missense	possibly damaging	0.47
R7480:Jrk	UTSW	15	74,578,902 (GRCm39)	missense	probably benign	0.16
R8353:Jrk	UTSW	15	74,578,474 (GRCm39)	nonsense	probably null
R8878:Jrk	UTSW	15	74,578,988 (GRCm39)	missense	probably benign	0.33
R9583:Jrk	UTSW	15	74,578,403 (GRCm39)	missense	probably damaging	0.98
R9748:Jrk	UTSW	15	74,579,225 (GRCm39)	missense	probably damaging	1.00
Z1088:Jrk	UTSW	15	74,579,243 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGTACACCTGCTCTGGAGAC -3'
(R):5'- AAGCCTGGGATCAGTTCCTG -3'

Sequencing Primer
(F):5'- CGCTGCAAGGCTCCTGAAAAAG -3'
(R):5'- AGATTGACATCTGCACCCGG -3'

Posted On

2021-07-15