Mutagenetix > Incidental Mutation

Incidental Mutation 'R5294:Jrk'

405328

Institutional Source

Beutler Lab

Gene Symbol

Jrk

Ensembl Gene

ENSMUSG00000046380

Gene Name

jerky

Synonyms

MMRRC Submission

042877-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R5294 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74574261-74581171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 74579185 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 33 (E33D)

Ref Sequence

ENSEMBL: ENSMUSP00000051842 (fasta)

Gene Model

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

AlphaFold

Q60976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050234
AA Change: E33D

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: E33D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000056711

SMART Domains

Protein: ENSMUSP00000060582
Gene: ENSMUSG00000044276

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185751

Meta Mutation Damage Score

0.0987

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (70/72)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579C12Rik	T	C	9: 89,034,056 (GRCm39)		noncoding transcript	Het
Acaca	A	G	11: 84,282,345 (GRCm39)	E2154G	probably benign	Het
Acacb	T	C	5: 114,380,013 (GRCm39)	F2056L	probably damaging	Het
Aff1	A	G	5: 103,959,023 (GRCm39)		probably benign	Het
Amn1	T	A	6: 149,086,622 (GRCm39)		probably benign	Het
Arid1a	C	A	4: 133,418,366 (GRCm39)		probably benign	Het
Aste1	T	A	9: 105,279,904 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,649,496 (GRCm39)	V495D	possibly damaging	Het
Atp1a3	T	A	7: 24,687,473 (GRCm39)	H688L	probably damaging	Het
B3gnt8	T	C	7: 25,328,191 (GRCm39)	L207P	probably damaging	Het
Baz2b	T	C	2: 59,808,946 (GRCm39)	H101R	probably benign	Het
Bicc1	G	A	10: 70,783,730 (GRCm39)	T387M	possibly damaging	Het
Champ1	A	C	8: 13,928,981 (GRCm39)	K380Q	probably damaging	Het
Cnst	A	G	1: 179,438,005 (GRCm39)	E523G	probably benign	Het
Cops6	G	C	5: 138,159,378 (GRCm39)		probably benign	Het
Cp	G	C	3: 20,020,480 (GRCm39)	V158L	probably benign	Het
Cyfip1	T	A	7: 55,523,231 (GRCm39)	M52K	possibly damaging	Het
Dars1	A	T	1: 128,292,039 (GRCm39)	F480I	probably benign	Het
Diaph1	C	A	18: 38,030,603 (GRCm39)	E284*	probably null	Het
Diaph1	T	C	18: 38,030,633 (GRCm39)	M274V	unknown	Het
Dock8	G	A	19: 25,038,517 (GRCm39)	V68M	probably benign	Het
Elavl4	A	G	4: 110,068,627 (GRCm39)	F247L	possibly damaging	Het
Emc10	C	T	7: 44,145,863 (GRCm39)		probably benign	Het
Fbxw16	T	C	9: 109,265,712 (GRCm39)	D369G	probably benign	Het
Fgr	A	T	4: 132,724,811 (GRCm39)	D304V	probably benign	Het
Filip1l	G	A	16: 57,390,399 (GRCm39)	S91N	possibly damaging	Het
Haus8	A	G	8: 71,708,354 (GRCm39)	S103P	unknown	Het
Hscb	A	G	5: 110,982,658 (GRCm39)	L143P	probably damaging	Het
Hsd11b2	A	T	8: 106,249,929 (GRCm39)	M347L	probably benign	Het
Kbtbd8	T	A	6: 95,098,813 (GRCm39)	Y123*	probably null	Het
Lrrc37	A	G	11: 103,507,057 (GRCm39)		probably benign	Het
Mis18bp1	A	C	12: 65,203,817 (GRCm39)	M59R	probably damaging	Het
Mrps27	T	C	13: 99,546,381 (GRCm39)	V260A	probably damaging	Het
Ncapg2	G	T	12: 116,391,414 (GRCm39)	V488L	possibly damaging	Het
Nepn	A	T	10: 52,276,896 (GRCm39)	N211Y	probably benign	Het
Ntrk3	A	T	7: 78,167,254 (GRCm39)		probably null	Het
Or10x4	A	T	1: 174,218,791 (GRCm39)	Y52F	probably benign	Het
Or11h23	A	G	14: 50,947,900 (GRCm39)	T38A	possibly damaging	Het
Or11h23	A	G	14: 50,948,236 (GRCm39)	I150V	probably benign	Het
Or52w1	C	T	7: 105,017,620 (GRCm39)	T20I	probably benign	Het
Otud4	A	T	8: 80,399,521 (GRCm39)	Q744L	possibly damaging	Het
P2ry14	A	T	3: 59,022,989 (GRCm39)	I166N	possibly damaging	Het
Pak2	T	A	16: 31,840,648 (GRCm39)	N478Y	probably damaging	Het
Papss2	A	G	19: 32,616,400 (GRCm39)	D202G	probably benign	Het
Pcdh7	C	A	5: 57,885,453 (GRCm39)		probably null	Het
Peg3	C	A	7: 6,720,848 (GRCm39)	S19I	possibly damaging	Het
Prim2	G	T	1: 33,707,974 (GRCm39)	T40K	probably benign	Het
Ranbp2	T	C	10: 58,314,490 (GRCm39)	F1737L	probably benign	Het
Rex2	A	C	4: 147,142,442 (GRCm39)	N310T	probably benign	Het
Rnf123	AT	ATT	9: 107,941,202 (GRCm39)		probably null	Het
Rnf39	C	T	17: 37,258,092 (GRCm39)	A86V	probably damaging	Het
Ror1	A	T	4: 100,283,135 (GRCm39)	N400I	probably benign	Het
Slc38a8	C	T	8: 120,221,028 (GRCm39)	G177D	probably damaging	Het
Slc43a3	T	C	2: 84,786,654 (GRCm39)	V445A	probably benign	Het
Sptbn2	A	G	19: 4,768,936 (GRCm39)	N23S	possibly damaging	Het
Taf5l	A	G	8: 124,734,957 (GRCm39)	F74L	probably benign	Het
Trappc11	G	C	8: 47,983,766 (GRCm39)	A42G	possibly damaging	Het
Trim30d	T	C	7: 104,121,695 (GRCm39)	K350R	probably damaging	Het
Trnt1	T	C	6: 106,750,375 (GRCm39)	F93S	probably damaging	Het
Ube2c	T	C	2: 164,619,110 (GRCm39)	V161A	probably benign	Het
Usp24	A	G	4: 106,219,554 (GRCm39)	E555G	possibly damaging	Het
Vmn2r55	T	G	7: 12,385,791 (GRCm39)	S730R	probably damaging	Het
Vmn2r89	T	A	14: 51,692,570 (GRCm39)	N124K	probably benign	Het
Vmn2r98	T	A	17: 19,290,016 (GRCm39)	C517*	probably null	Het
Vps13a	A	T	19: 16,619,031 (GRCm39)	I2845N	probably damaging	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Xpo5	T	C	17: 46,547,848 (GRCm39)	V896A	probably benign	Het
Zfp2	T	C	11: 50,792,068 (GRCm39)		probably benign	Het
Zgrf1	G	A	3: 127,394,629 (GRCm39)	M1328I	probably benign	Het
Zswim5	A	G	4: 116,836,774 (GRCm39)	D686G	possibly damaging	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
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
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'- CTTTACCAGGAACCACTCATAGAGC -3'
(R):5'- TAAGCCTGGGATCAGTTCCTGG -3'

Sequencing Primer
(F):5'- TCATAGAGCACCCGGTCCAG -3'
(R):5'- GATCAGTTCCTGGGGCAG -3'

Posted On

2016-07-22