Mutagenetix > Incidental Mutation

Incidental Mutation 'R7411:Jrk'

575108

Institutional Source

Beutler Lab

Gene Symbol

Jrk

Ensembl Gene

ENSMUSG00000046380

Gene Name

jerky

Synonyms

MMRRC Submission

045492-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R7411 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

74702301-74709535 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 74707199 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 79 (R79H)

Ref Sequence

ENSEMBL: ENSMUSP00000051842 (fasta)

Gene Model

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

AlphaFold

Q60976

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050234
AA Change: R79H

PolyPhen 2 Score 0.465 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000051842
Gene: ENSMUSG00000046380
AA Change: R79H

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: 99.1%

Validation Efficiency

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
1810055G02Rik	C	T	19: 3,717,241 (GRCm38)	T276I	possibly damaging	Het
Abca17	A	G	17: 24,328,569 (GRCm38)	I277T	possibly damaging	Het
Abcb11	C	T	2: 69,303,936 (GRCm38)		probably null	Het
Abcc12	C	A	8: 86,560,850 (GRCm38)	R122L	possibly damaging	Het
Abcc8	A	G	7: 46,165,917 (GRCm38)		probably null	Het
Adam28	C	T	14: 68,626,947 (GRCm38)	R469K	probably damaging	Het
Adamts18	T	C	8: 113,777,730 (GRCm38)	Y243C	probably damaging	Het
Agbl3	T	C	6: 34,814,819 (GRCm38)	S619P	probably damaging	Het
Alpk3	A	T	7: 81,092,852 (GRCm38)	T806S	probably benign	Het
Armh3	A	C	19: 45,965,435 (GRCm38)	V170G	probably benign	Het
Atoh1	T	A	6: 64,729,930 (GRCm38)	I203N	probably damaging	Het
Cables1	A	G	18: 11,840,515 (GRCm38)	E237G	probably benign	Het
Cacna1d	A	G	14: 30,352,990 (GRCm38)	M1T	probably null	Het
Ccdc91	C	T	6: 147,592,198 (GRCm38)	Q363*	probably null	Het
Cdhr17	A	T	5: 16,824,765 (GRCm38)	T500S	possibly damaging	Het
Ceacam5	T	A	7: 17,750,753 (GRCm38)	D473E	probably damaging	Het
Cfap54	T	A	10: 92,868,755 (GRCm38)	D2821V	unknown	Het
Clca3a2	A	G	3: 144,802,099 (GRCm38)	S737P	probably damaging	Het
Clec4n	T	A	6: 123,232,186 (GRCm38)	M70K	probably benign	Het
Dnai3	A	G	3: 146,097,145 (GRCm38)	V97A	probably damaging	Het
Dstyk	G	A	1: 132,417,666 (GRCm38)	G21S	probably benign	Het
Enpp5	A	G	17: 44,081,475 (GRCm38)	D265G	probably damaging	Het
Gabrb1	T	C	5: 72,122,195 (GRCm38)		probably null	Het
Gm11639	T	G	11: 104,999,723 (GRCm38)	N4210K	probably benign	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 142,240,817 (GRCm38)		probably benign	Het
Guk1	A	G	11: 59,185,985 (GRCm38)	F91L		Het
Ints1	C	T	5: 139,764,260 (GRCm38)	E961K	possibly damaging	Het
Irx2	T	A	13: 72,629,063 (GRCm38)	M1K	probably null	Het
Kcnu1	G	T	8: 25,892,088 (GRCm38)	V489L	probably damaging	Het
Kctd7	C	T	5: 130,152,424 (GRCm38)	T209M	probably benign	Het
Kdm5a	T	A	6: 120,426,815 (GRCm38)	V1127E	probably damaging	Het
Klk6	A	G	7: 43,826,943 (GRCm38)	H69R	probably damaging	Het
Lck	T	C	4: 129,551,970 (GRCm38)	K340R	probably benign	Het
Lrrc75a	A	G	11: 62,605,908 (GRCm38)	L276P	probably damaging	Het
Med25	A	G	7: 44,878,243 (GRCm38)	W730R	probably damaging	Het
Muc4	T	C	16: 32,751,322 (GRCm38)	V400A	probably benign	Het
Myl10	G	C	5: 136,697,971 (GRCm38)	V70L	probably benign	Het
Myt1	C	A	2: 181,815,106 (GRCm38)	H906Q	probably damaging	Het
Ncl	A	T	1: 86,350,842 (GRCm38)	F673I	probably damaging	Het
Nfe2l1	G	T	11: 96,822,183 (GRCm38)	T216N	probably benign	Het
Nos2	G	A	11: 78,944,855 (GRCm38)		probably null	Het
Nphp4	T	A	4: 152,554,717 (GRCm38)	I935N	probably benign	Het
Ntn1	G	A	11: 68,386,089 (GRCm38)	A11V	probably benign	Het
Or2t26	A	T	11: 49,148,994 (GRCm38)	M246L	probably benign	Het
Or4c10b	T	C	2: 89,881,261 (GRCm38)	V145A	probably damaging	Het
Pate11	T	C	9: 36,475,684 (GRCm38)	V16A	possibly damaging	Het
Pcdha12	A	G	18: 37,021,608 (GRCm38)	Y460C	probably damaging	Het
Pcdha4	G	T	18: 36,953,058 (GRCm38)	R98L	probably benign	Het
Pitpnc1	A	G	11: 107,212,572 (GRCm38)	S234P	probably damaging	Het
Pmfbp1	A	T	8: 109,513,871 (GRCm38)	Y195F	probably damaging	Het
Prl6a1	T	C	13: 27,318,142 (GRCm38)	I164T	probably damaging	Het
Ptpn18	G	A	1: 34,472,192 (GRCm38)		probably null	Het
Rhbdl2	G	A	4: 123,829,642 (GRCm38)	A280T	possibly damaging	Het
Rsf1	CGGC	CGGCGGCGGGGGC	7: 97,579,932 (GRCm38)		probably benign	Het
Sema3a	T	G	5: 13,516,263 (GRCm38)	Y171*	probably null	Het
Set	A	G	2: 30,066,885 (GRCm38)	E22G	probably benign	Het
Sirpb1b	A	T	3: 15,542,997 (GRCm38)	D229E	probably benign	Het
Slc12a2	A	T	18: 57,941,013 (GRCm38)	I1096F	probably benign	Het
Slc30a5	T	C	13: 100,818,180 (GRCm38)	I159V	probably benign	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 126,389,038 (GRCm38)		probably benign	Het
Slc6a20b	A	G	9: 123,604,948 (GRCm38)	I275T	probably benign	Het
Speer1e	T	A	5: 11,183,149 (GRCm38)		probably null	Het
Stradb	A	C	1: 58,988,518 (GRCm38)	D69A	possibly damaging	Het
Supt16	A	T	14: 52,178,051 (GRCm38)	V409E	probably damaging	Het
Tcea2	A	G	2: 181,686,664 (GRCm38)	N195S	probably damaging	Het
Thumpd3	T	C	6: 113,056,111 (GRCm38)	V270A	possibly damaging	Het
Urgcp	T	A	11: 5,718,116 (GRCm38)	H117L	probably benign	Het
Vps13c	T	A	9: 67,972,001 (GRCm38)	M3408K	probably damaging	Het
Wdfy4	A	C	14: 33,106,131 (GRCm38)	M1078R		Het
Ypel5	G	A	17: 72,846,444 (GRCm38)		probably null	Het

Other mutations in Jrk

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0144:Jrk	UTSW	15	74,706,156 (GRCm38)	missense	probably benign	0.01
R1871:Jrk	UTSW	15	74,706,563 (GRCm38)	missense	possibly damaging	0.91
R3417:Jrk	UTSW	15	74,706,885 (GRCm38)	missense	probably damaging	0.96
R4867:Jrk	UTSW	15	74,707,220 (GRCm38)	missense	probably benign	0.00
R5294:Jrk	UTSW	15	74,707,336 (GRCm38)	missense	possibly damaging	0.88
R5769:Jrk	UTSW	15	74,706,068 (GRCm38)	missense	probably benign	0.19
R5911:Jrk	UTSW	15	74,705,768 (GRCm38)	missense	possibly damaging	0.88
R6123:Jrk	UTSW	15	74,706,680 (GRCm38)	missense	possibly damaging	0.46
R6176:Jrk	UTSW	15	74,706,340 (GRCm38)	missense	possibly damaging	0.47
R7480:Jrk	UTSW	15	74,707,053 (GRCm38)	missense	probably benign	0.16
R8353:Jrk	UTSW	15	74,706,625 (GRCm38)	nonsense	probably null
R8878:Jrk	UTSW	15	74,707,139 (GRCm38)	missense	probably benign	0.33
R8882:Jrk	UTSW	15	74,707,155 (GRCm38)	missense	probably damaging	1.00
R9583:Jrk	UTSW	15	74,706,554 (GRCm38)	missense	probably damaging	0.98
R9748:Jrk	UTSW	15	74,707,376 (GRCm38)	missense	probably damaging	1.00
Z1088:Jrk	UTSW	15	74,707,394 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCATCAGCGCTGTACACCTG -3'
(R):5'- ACTTAAGCCTGGGATCAGTTCC -3'

Sequencing Primer
(F):5'- GGAGGCATCCAGCTTTTTAATGCC -3'
(R):5'- TCCTCATGGCCTCCAAGCAG -3'

Posted On

2019-10-07