Mutagenetix > Incidental Mutation

Incidental Mutation 'R7480:Jrk'

579763

Institutional Source

Beutler Lab

Gene Symbol

Jrk

Ensembl Gene

ENSMUSG00000046380

Gene Name

jerky

Synonyms

MMRRC Submission

045554-MU

Accession Numbers

Essential gene?

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

Stock #

R7480 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74574261-74581171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74578902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Threonine at position 128 (P128T)

Ref Sequence

ENSEMBL: ENSMUSP00000051842 (fasta)

Gene Model

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

AlphaFold

Q60976

Predicted Effect

probably benign
Transcript: ENSMUST00000050234
AA Change: P128T

PolyPhen 2 Score 0.161 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: P128T

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (64/64)

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alg9	T	G	9: 50,733,928 (GRCm39)	M542R	probably benign	Het
Apol10b	G	T	15: 77,472,988 (GRCm39)	A22D	probably benign	Het
Arhgap45	T	A	10: 79,862,936 (GRCm39)	L704*	probably null	Het
Bicc1	T	C	10: 70,779,306 (GRCm39)	D694G	probably damaging	Het
C1ql3	A	T	2: 13,015,150 (GRCm39)	I170N	probably damaging	Het
Casz1	T	C	4: 149,029,043 (GRCm39)	F1163L	probably damaging	Het
Ces2f	A	G	8: 105,681,338 (GRCm39)	K559R	possibly damaging	Het
Col19a1	C	T	1: 24,356,788 (GRCm39)	G632R	probably damaging	Het
Cr2	C	T	1: 194,836,484 (GRCm39)	C893Y	probably damaging	Het
Csf1r	T	G	18: 61,250,610 (GRCm39)	D440E	probably benign	Het
Cul9	A	T	17: 46,848,738 (GRCm39)	M666K	probably benign	Het
Dapk1	A	G	13: 60,905,311 (GRCm39)	D1007G	probably benign	Het
Dlk1	T	A	12: 109,421,540 (GRCm39)	C85S	probably damaging	Het
Epb41l3	A	C	17: 69,568,867 (GRCm39)		probably null	Het
Eri2	T	A	7: 119,385,734 (GRCm39)	R256*	probably null	Het
Fshr	A	C	17: 89,292,802 (GRCm39)	Y625*	probably null	Het
Galk2	A	G	2: 125,788,845 (GRCm39)	I300V	probably benign	Het
Garin1a	G	A	6: 29,281,435 (GRCm39)		probably null	Het
Gm3409	T	A	5: 146,476,311 (GRCm39)	V154E	probably damaging	Het
Gm7356	A	G	17: 14,221,327 (GRCm39)	I234T	possibly damaging	Het
Gtf3c1	T	C	7: 125,241,713 (GRCm39)	Y1995C	probably benign	Het
Herc6	C	T	6: 57,558,206 (GRCm39)	T62I	possibly damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Hmcn1	A	T	1: 150,552,985 (GRCm39)		probably null	Het
Iqca1l	T	G	5: 24,751,904 (GRCm39)	E498A	probably damaging	Het
Kctd14	T	C	7: 97,107,431 (GRCm39)	F229L	probably benign	Het
Kif27	A	T	13: 58,436,025 (GRCm39)	V1256E	probably benign	Het
Klk13	T	C	7: 43,370,846 (GRCm39)	S133P	probably benign	Het
Mpzl1	A	G	1: 165,432,257 (GRCm39)	V176A	possibly damaging	Het
Mxi1	A	G	19: 53,360,066 (GRCm39)	T263A	possibly damaging	Het
Nfxl1	C	T	5: 72,716,595 (GRCm39)	W5*	probably null	Het
Nt5dc1	C	T	10: 34,200,450 (GRCm39)	G190R	probably damaging	Het
Nt5dc1	C	A	10: 34,200,449 (GRCm39)	G190V	probably damaging	Het
Oprd1	A	G	4: 131,844,492 (GRCm39)	I172T	possibly damaging	Het
Or1f19	A	T	16: 3,410,493 (GRCm39)	T78S	probably benign	Het
Or4k38	A	G	2: 111,165,737 (GRCm39)	S229P	probably benign	Het
Or6f1	A	G	7: 85,970,888 (GRCm39)	S91P	probably benign	Het
Or7e173	C	T	9: 19,939,230 (GRCm39)	M1I	probably null	Het
Pafah1b1	A	C	11: 74,576,740 (GRCm39)	C184G	probably damaging	Het
Pde5a	A	T	3: 122,596,797 (GRCm39)	N495Y	possibly damaging	Het
Piezo1	A	T	8: 123,225,234 (GRCm39)	Y588*	probably null	Het
Plekha7	A	T	7: 115,736,403 (GRCm39)		probably null	Het
Pramel11	T	C	4: 143,622,065 (GRCm39)	D430G	probably benign	Het
Prdm11	T	C	2: 92,805,669 (GRCm39)	K427R	probably benign	Het
Rai14	C	A	15: 10,571,622 (GRCm39)	E940D	probably benign	Het
Rasl11b	T	A	5: 74,358,771 (GRCm39)	V92E	possibly damaging	Het
Rassf8	T	A	6: 145,765,757 (GRCm39)	I29K	unknown	Het
Reg3a	C	T	6: 78,359,330 (GRCm39)	T110I	probably damaging	Het
Scaf1	C	T	7: 44,657,073 (GRCm39)	G602D	unknown	Het
Senp6	T	C	9: 80,029,199 (GRCm39)	C521R	probably damaging	Het
Senp7	G	A	16: 55,975,589 (GRCm39)	V432I	possibly damaging	Het
Skint8	A	T	4: 111,785,784 (GRCm39)	R77*	probably null	Het
Slamf9	G	A	1: 172,305,040 (GRCm39)	C218Y	probably damaging	Het
Slc8a1	T	C	17: 81,956,649 (GRCm39)	T130A	probably damaging	Het
Smpdl3a	A	G	10: 57,678,574 (GRCm39)	I126V	possibly damaging	Het
Taar9	T	A	10: 23,984,843 (GRCm39)	N197I	possibly damaging	Het
Tango6	A	T	8: 107,423,359 (GRCm39)	D378V	possibly damaging	Het
Tfb2m	A	G	1: 179,356,747 (GRCm39)	F396L	probably benign	Het
Thbs4	G	A	13: 92,903,729 (GRCm39)	P429L	probably benign	Het
Tnxb	A	G	17: 34,934,747 (GRCm39)	D2452G	probably damaging	Het
Ulk3	C	T	9: 57,498,523 (GRCm39)	R131*	probably null	Het
Vmn1r179	A	T	7: 23,628,558 (GRCm39)	R250*	probably null	Het
Vmn1r54	A	G	6: 90,246,160 (GRCm39)	I25V	possibly damaging	Het
Wnt7a	C	A	6: 91,371,395 (GRCm39)	R189L	probably benign	Het
Wrap73	A	G	4: 154,237,043 (GRCm39)	D210G	probably benign	Het
Xpo6	G	A	7: 125,701,505 (GRCm39)	R1112*	probably null	Het
Zfp114	T	A	7: 23,881,307 (GRCm39)	V552D	probably damaging	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	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
R8353:Jrk	UTSW	15	74,578,474 (GRCm39)	nonsense	probably null
R8878:Jrk	UTSW	15	74,578,988 (GRCm39)	missense	probably benign	0.33
R8882:Jrk	UTSW	15	74,579,004 (GRCm39)	missense	probably damaging	1.00
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'- CTCATCAGCGCTGTACACCT -3'
(R):5'- TAAGGACAGGGGCAGCCT -3'

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

Posted On

2019-10-07