Mutagenetix > Incidental Mutation

Incidental Mutation 'R4394:Jrkl'

326536

Institutional Source

Beutler Lab

Gene Symbol

Jrkl

Ensembl Gene

ENSMUSG00000079083

Gene Name

Jrk-like

Synonyms

C030035D04Rik

MMRRC Submission

041683-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.266) question?

Stock #

R4394 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13242795-13245746 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 13245146 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 172 (Q172*)

Ref Sequence

ENSEMBL: ENSMUSP00000128798 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110582] [ENSMUST00000110583] [ENSMUST00000217444]

AlphaFold

B2RRL2

Predicted Effect

probably null
Transcript: ENSMUST00000110582
AA Change: Q172*

SMART Domains

Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: Q172*

Domain	Start	End	E-Value	Type
Pfam:CENP-B_N	4	54	6e-18	PFAM
CENPB	73	139	1.45e-24	SMART
Pfam:DDE_1	206	385	1e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000110583

SMART Domains

Protein: ENSMUSP00000106212
Gene: ENSMUSG00000079084

Domain	Start	End	E-Value	Type
low complexity region	38	70	N/A	INTRINSIC
Pfam:DUF4196	98	211	1.8e-50	PFAM
low complexity region	218	231	N/A	INTRINSIC
Pfam:DUF4211	273	432	1e-36	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169961

SMART Domains

Protein: ENSMUSP00000126058
Gene: ENSMUSG00000079084

Domain	Start	End	E-Value	Type
low complexity region	38	70	N/A	INTRINSIC
Pfam:DUF4196	98	211	2.2e-55	PFAM
low complexity region	218	231	N/A	INTRINSIC
low complexity region	250	273	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215735

Predicted Effect

probably benign
Transcript: ENSMUST00000217444

Meta Mutation Damage Score

0.9702

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.8%
20x: 93.4%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The function of this gene has not yet been defined, however, the encoded protein shares similarity with the human (41% identical) and mouse (34% identical) jerky gene products. This protein may act as a nuclear regulatory protein. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, May 2012]

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abtb1	A	G	6: 88,813,566 (GRCm39)	F391L	probably damaging	Het
AC140205.10	C	A	8: 21,323,181 (GRCm39)	T192K	probably benign	Het
Arid4b	T	A	13: 14,329,557 (GRCm39)		probably null	Het
Bahd1	G	A	2: 118,753,004 (GRCm39)	R757H	probably damaging	Het
Brip1	A	T	11: 85,965,124 (GRCm39)	N855K	possibly damaging	Het
Ces2f	A	G	8: 105,677,586 (GRCm39)	N197S	probably damaging	Het
Chd4	A	G	6: 125,098,581 (GRCm39)	T1520A	probably damaging	Het
Cltc	A	C	11: 86,624,456 (GRCm39)	N159K	probably damaging	Het
Cntn1	C	T	15: 92,189,645 (GRCm39)	T656I	probably damaging	Het
Crybg3	A	G	16: 59,380,458 (GRCm39)		probably benign	Het
Dzip1l	T	A	9: 99,521,907 (GRCm39)	L181H	probably damaging	Het
Fam3b	C	A	16: 97,282,986 (GRCm39)		probably null	Het
Fat1	T	A	8: 45,405,383 (GRCm39)	N711K	probably damaging	Het
Fat3	A	G	9: 15,834,088 (GRCm39)	I4168T	probably benign	Het
Fbxw20	T	C	9: 109,061,398 (GRCm39)	D117G	probably benign	Het
Gm8122	A	G	14: 43,091,525 (GRCm39)	L81P	unknown	Het
Hal	T	C	10: 93,332,421 (GRCm39)		probably benign	Het
Hgf	T	A	5: 16,823,949 (GRCm39)	Y715*	probably null	Het
Hid1	T	A	11: 115,258,468 (GRCm39)		probably benign	Het
Hyou1	T	A	9: 44,293,169 (GRCm39)	V125E	probably damaging	Het
Lamc3	A	G	2: 31,821,964 (GRCm39)	E1304G	probably benign	Het
Lman2l	A	C	1: 36,478,804 (GRCm39)	C103G	probably damaging	Het
Lrfn5	T	C	12: 61,890,276 (GRCm39)	S522P	probably damaging	Het
Mark3	A	T	12: 111,570,957 (GRCm39)	I86L	possibly damaging	Het
Mfsd13a	C	T	19: 46,360,431 (GRCm39)	R328C	probably damaging	Het
Mgst2	G	A	3: 51,571,949 (GRCm39)	V26I	probably damaging	Het
Neb	A	T	2: 52,077,525 (GRCm39)	Y158*	probably null	Het
Nipbl	T	C	15: 8,391,345 (GRCm39)	I210V	probably benign	Het
Or7g18	A	T	9: 18,786,907 (GRCm39)	I95L	probably damaging	Het
Or8j3b	C	T	2: 86,205,523 (GRCm39)	A78T	possibly damaging	Het
Pcdhb8	C	T	18: 37,489,935 (GRCm39)	P538S	probably damaging	Het
Postn	A	G	3: 54,278,376 (GRCm39)	D295G	probably damaging	Het
Prss38	T	C	11: 59,263,854 (GRCm39)	Y286C	probably damaging	Het
Psen2	A	T	1: 180,068,347 (GRCm39)	V102E	probably damaging	Het
Ptpn9	A	T	9: 56,943,847 (GRCm39)	K126N	possibly damaging	Het
Ptprd	A	G	4: 76,046,922 (GRCm39)	I435T	probably damaging	Het
Rab39	T	C	9: 53,597,950 (GRCm39)	K105R	probably benign	Het
Robo2	C	A	16: 73,745,267 (GRCm39)	R840L	probably benign	Het
Rps6ka5	T	A	12: 100,547,578 (GRCm39)	I311F	probably damaging	Het
Ryr1	G	T	7: 28,793,667 (GRCm39)	T1267K	possibly damaging	Het
Sis	G	A	3: 72,863,482 (GRCm39)	T252I	probably damaging	Het
Slc41a3	A	T	6: 90,612,312 (GRCm39)	S201C	probably damaging	Het
Slitrk1	A	C	14: 109,148,735 (GRCm39)	S659A	probably benign	Het
Snx25	A	T	8: 46,488,715 (GRCm39)	M880K	probably damaging	Het
Tbxas1	C	T	6: 39,004,713 (GRCm39)	T320I	probably benign	Het
Tex44	T	C	1: 86,355,489 (GRCm39)	V466A	probably benign	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tnxb	C	T	17: 34,897,636 (GRCm39)	Q804*	probably null	Het
Tpst1	T	A	5: 130,131,343 (GRCm39)	M271K	probably benign	Het
Trank1	C	T	9: 111,194,265 (GRCm39)	T763I	possibly damaging	Het
Trip12	A	T	1: 84,703,462 (GRCm39)	H729Q	probably damaging	Het
Tshz3	A	T	7: 36,469,030 (GRCm39)	T340S	probably damaging	Het
Ttc5	T	C	14: 51,018,962 (GRCm39)	K52E	probably benign	Het
Ugt1a1	CAGAGAGAGAGAGA	CAGAGAGAGAGA	1: 88,139,706 (GRCm39)		probably benign	Het
Vmn2r79	A	G	7: 86,651,099 (GRCm39)	H166R	possibly damaging	Het
Wsb2	T	G	5: 117,501,643 (GRCm39)		probably benign	Het

Other mutations in Jrkl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB007:Jrkl	UTSW	9	13,245,506 (GRCm39)	missense	possibly damaging	0.95
BB017:Jrkl	UTSW	9	13,245,506 (GRCm39)	missense	possibly damaging	0.95
R1185:Jrkl	UTSW	9	13,244,938 (GRCm39)	missense	possibly damaging	0.69
R1185:Jrkl	UTSW	9	13,244,938 (GRCm39)	missense	possibly damaging	0.69
R1185:Jrkl	UTSW	9	13,244,938 (GRCm39)	missense	possibly damaging	0.69
R1432:Jrkl	UTSW	9	13,245,337 (GRCm39)	missense	probably benign	0.15
R1914:Jrkl	UTSW	9	13,245,609 (GRCm39)	missense	possibly damaging	0.48
R1915:Jrkl	UTSW	9	13,245,609 (GRCm39)	missense	possibly damaging	0.48
R2079:Jrkl	UTSW	9	13,244,864 (GRCm39)	missense	probably damaging	1.00
R2155:Jrkl	UTSW	9	13,244,913 (GRCm39)	nonsense	probably null
R3714:Jrkl	UTSW	9	13,244,236 (GRCm39)	missense	possibly damaging	0.77
R3734:Jrkl	UTSW	9	13,245,535 (GRCm39)	missense	possibly damaging	0.95
R4486:Jrkl	UTSW	9	13,245,376 (GRCm39)	missense	probably benign	0.36
R5687:Jrkl	UTSW	9	13,244,387 (GRCm39)	missense	probably benign	0.07
R5724:Jrkl	UTSW	9	13,244,891 (GRCm39)	missense	possibly damaging	0.68
R6394:Jrkl	UTSW	9	13,245,495 (GRCm39)	nonsense	probably null
R7002:Jrkl	UTSW	9	13,245,526 (GRCm39)	missense	probably damaging	1.00
R7196:Jrkl	UTSW	9	13,244,162 (GRCm39)	missense	probably benign	0.03
R7851:Jrkl	UTSW	9	13,244,354 (GRCm39)	missense	probably benign	0.03
R7930:Jrkl	UTSW	9	13,245,506 (GRCm39)	missense	possibly damaging	0.95
R8864:Jrkl	UTSW	9	13,244,326 (GRCm39)	missense	probably benign	0.06
R9062:Jrkl	UTSW	9	13,245,338 (GRCm39)	missense	probably benign	0.06
R9163:Jrkl	UTSW	9	13,245,404 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGTTATGGAGAAGACCTGCAC -3'
(R):5'- GGGAATGGATGGTGATTTTAACCC -3'

Sequencing Primer
(F):5'- TTAAGTACTCTCGAACCTGAGGC -3'
(R):5'- AACCCTTCTGCTGGTTGGTTAAC -3'

Posted On

2015-07-06