Mutagenetix > Incidental Mutation

Incidental Mutation 'R6176:Jrk'

487785

Institutional Source

Beutler Lab

Gene Symbol

Jrk

Ensembl Gene

ENSMUSG00000046380

Gene Name

jerky

Synonyms

MMRRC Submission

044318-MU

Accession Numbers

Essential gene?

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

Stock #

R6176 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74574261-74581171 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74578189 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 365 (N365K)

Ref Sequence

ENSEMBL: ENSMUSP00000051842 (fasta)

Gene Model

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

AlphaFold

Q60976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050234
AA Change: N365K

PolyPhen 2 Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: N365K

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

97% (60/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akna	T	C	4: 63,295,969 (GRCm39)	Q966R	probably benign	Het
Amn	A	G	12: 111,240,590 (GRCm39)	D74G	possibly damaging	Het
Ank2	T	A	3: 126,739,120 (GRCm39)	T2255S	probably benign	Het
Ankfy1	G	A	11: 72,645,285 (GRCm39)	C788Y	probably benign	Het
Apaf1	A	G	10: 90,895,433 (GRCm39)		probably null	Het
Asl	T	A	5: 130,047,720 (GRCm39)	H82L	probably benign	Het
Atrn	A	G	2: 130,788,011 (GRCm39)	E271G	probably benign	Het
B4galnt3	A	G	6: 120,201,125 (GRCm39)	F184S	probably damaging	Het
C1s2	T	A	6: 124,602,768 (GRCm39)	H481L	probably damaging	Het
Cav2	A	G	6: 17,286,918 (GRCm39)	D58G	possibly damaging	Het
Cc2d2a	A	T	5: 43,866,455 (GRCm39)	H755L	probably benign	Het
Ccdc65	A	G	15: 98,606,433 (GRCm39)		probably null	Het
Celsr3	A	T	9: 108,705,554 (GRCm39)	Y679F	probably damaging	Het
Cep135	A	T	5: 76,772,490 (GRCm39)	Y625F	probably benign	Het
Cfhr1	A	G	1: 139,478,654 (GRCm39)	S58P	probably damaging	Het
Clip4	T	A	17: 72,113,628 (GRCm39)	C259*	probably null	Het
Cyp2j12	T	A	4: 96,029,074 (GRCm39)	Q69L	probably damaging	Het
Dock3	G	A	9: 106,790,147 (GRCm39)	T1484I	probably benign	Het
Ecscr	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	CCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	18: 35,849,813 (GRCm39)		probably benign	Het
Efcab3	A	T	11: 104,683,383 (GRCm39)	I1604F	probably benign	Het
Fam43b	T	C	4: 138,122,522 (GRCm39)	D266G	probably damaging	Het
Fbxl13	T	A	5: 21,705,498 (GRCm39)	I618F	possibly damaging	Het
Gne	C	T	4: 44,053,019 (GRCm39)		probably benign	Het
Gnpat	T	A	8: 125,605,593 (GRCm39)	V321E	probably damaging	Het
Gpatch8	G	A	11: 102,378,350 (GRCm39)	A200V	unknown	Het
Grid1	C	A	14: 35,284,504 (GRCm39)	A749E	probably benign	Het
Grip2	C	T	6: 91,756,832 (GRCm39)	V540I	probably benign	Het
Ice2	C	T	9: 69,324,354 (GRCm39)	T759M	probably damaging	Het
Kank4	A	G	4: 98,653,791 (GRCm39)	I879T	probably damaging	Het
Krtap20-1	T	A	16: 88,812,288 (GRCm39)	Y24*	probably null	Het
Lao1	T	A	4: 118,819,197 (GRCm39)	M1K	probably null	Het
Mlf1	A	G	3: 67,291,927 (GRCm39)	R31G	probably damaging	Het
Nt5c3b	T	C	11: 100,330,974 (GRCm39)		probably benign	Het
Nusap1	A	G	2: 119,460,902 (GRCm39)	R132G	probably benign	Het
Or11g1	A	G	14: 50,651,847 (GRCm39)	Y282C	probably damaging	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or5w20	G	A	2: 87,727,280 (GRCm39)	V254I	probably benign	Het
Or8d2b	A	C	9: 38,788,673 (GRCm39)	D67A	probably damaging	Het
Paqr9	G	T	9: 95,442,828 (GRCm39)	V273L	possibly damaging	Het
Pcdha9	A	T	18: 37,131,984 (GRCm39)	D351V	probably benign	Het
Pcdhga1	A	G	18: 37,797,282 (GRCm39)	D762G	probably benign	Het
Pde3a	T	A	6: 141,444,615 (GRCm39)	L1141Q	possibly damaging	Het
Pga5	T	A	19: 10,649,149 (GRCm39)		probably null	Het
Phldb3	C	A	7: 24,326,127 (GRCm39)	R570S	probably damaging	Het
Slc22a6	A	C	19: 8,599,161 (GRCm39)	E264A	probably damaging	Het
Slc49a4	C	T	16: 35,525,167 (GRCm39)	M426I	probably benign	Het
Slit1	T	C	19: 41,626,034 (GRCm39)	K576R	probably damaging	Het
Sox21	T	C	14: 118,473,040 (GRCm39)	K3R	possibly damaging	Het
Stk32c	A	T	7: 138,700,691 (GRCm39)	D297E	probably benign	Het
Suclg1	T	C	6: 73,252,326 (GRCm39)	V323A	probably damaging	Het
Tas1r2	T	G	4: 139,396,199 (GRCm39)	C513G	probably damaging	Het
Tbc1d23	A	G	16: 56,992,152 (GRCm39)	Y603H	probably damaging	Het
Tbc1d31	T	C	15: 57,816,192 (GRCm39)	V642A	probably damaging	Het
Tle2	A	T	10: 81,423,168 (GRCm39)	D486V	probably damaging	Het
Tmem232	A	G	17: 65,792,867 (GRCm39)	I110T	probably damaging	Het
Tmem39b	A	G	4: 129,586,894 (GRCm39)	Y106H	probably damaging	Het
Trpm4	T	G	7: 44,976,100 (GRCm39)	N229T	probably damaging	Het
Tspo	A	G	15: 83,458,007 (GRCm39)	T120A	probably benign	Het
Ttc28	G	A	5: 111,371,851 (GRCm39)	A767T	probably damaging	Het
Usp53	G	A	3: 122,727,652 (GRCm39)	Q977*	probably null	Het
Vmn1r215	T	A	13: 23,260,528 (GRCm39)	D189E	probably damaging	Het
Vmn2r12	T	C	5: 109,233,866 (GRCm39)	Y782C	probably benign	Het
Vmn2r54	A	G	7: 12,349,908 (GRCm39)	L558P	probably damaging	Het
Zfp268	T	A	4: 145,350,628 (GRCm39)	C688*	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
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'- CTGGGATGGTGCCACAATGG -3'
(R):5'- CAGGGTAATGCCTGGGTAGAC -3'

Sequencing Primer
(F):5'- GAACAGGTTGGCCCTTCTTTTACAAG -3'
(R):5'- GACAGCAAGGCAATTCTCTTG -3'

Posted On

2017-10-10