Mutagenetix > Incidental Mutation

Incidental Mutation 'R7930:Jrkl'

643536

Institutional Source

Beutler Lab

Gene Symbol

Jrkl

Ensembl Gene

ENSMUSG00000079083

Gene Name

Jrk-like

Synonyms

C030035D04Rik

MMRRC Submission

045977-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.268) question?

Stock #

R7930 (G1)

Quality Score

999

Status

Not validated

Chromosome

Chromosomal Location

13242795-13245746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13245506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 52 (I52V)

Ref Sequence

ENSEMBL: ENSMUSP00000128798 (fasta)

Gene Model

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

AlphaFold

B2RRL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110582
AA Change: I52V

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: I52V

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

probably benign
Transcript: ENSMUST00000217444

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.8%

Validation Efficiency

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	C	T	8: 41,250,107 (GRCm39)	T739I	probably benign	Het
Adam23	G	T	1: 63,624,586 (GRCm39)	V805F	possibly damaging	Het
Adamts17	A	T	7: 66,499,547 (GRCm39)	R31S	probably damaging	Het
Ahnak2	T	C	12: 112,745,560 (GRCm39)	E629G		Het
Ano4	T	A	10: 89,163,138 (GRCm39)	Y27F	possibly damaging	Het
Bbs2	A	G	8: 94,796,625 (GRCm39)	V675A	probably damaging	Het
Brca2	A	G	5: 150,481,975 (GRCm39)	E2839G	probably damaging	Het
Capn5	C	T	7: 97,773,085 (GRCm39)	V640I	probably benign	Het
Casp4	C	T	9: 5,321,318 (GRCm39)	T23M	probably damaging	Het
Cerk	C	T	15: 86,028,920 (GRCm39)	E379K	possibly damaging	Het
Comp	G	A	8: 70,826,503 (GRCm39)	G26D	probably damaging	Het
Cpxm1	G	A	2: 130,236,982 (GRCm39)	A220V	possibly damaging	Het
Cracd	GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG	GCGCGAGGCCGAGAGGCAGG	5: 77,004,801 (GRCm39)		probably benign	Het
Cyp2c69	G	T	19: 39,831,434 (GRCm39)	P460T	possibly damaging	Het
Ddx23	T	C	15: 98,546,504 (GRCm39)	D555G	probably damaging	Het
Dusp9	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	AAGGCCGAACCTAAGGCTGAAGCGGAGGCCGAACCTAAGGCTGAAGCGGAG	X: 72,684,128 (GRCm39)		probably benign	Het
E2f6	T	A	12: 16,869,058 (GRCm39)	I127K	probably damaging	Het
Efr3a	T	A	15: 65,733,589 (GRCm39)	D716E	probably benign	Het
Esp16	T	G	17: 39,850,868 (GRCm39)	S82R	possibly damaging	Het
Fasn	A	C	11: 120,700,061 (GRCm39)	S2199A	probably benign	Het
Fscb	A	G	12: 64,519,337 (GRCm39)	S710P	unknown	Het
Gas7	A	G	11: 67,556,217 (GRCm39)	I185M	probably damaging	Het
Glg1	A	T	8: 111,887,367 (GRCm39)	L1047I	possibly damaging	Het
Gm10800	AAGAAAACTGAAAATCAT	A	2: 98,497,379 (GRCm39)		probably benign	Het
Gm7876	A	T	14: 4,711,357 (GRCm38)	I124L	possibly damaging	Het
Golga5	A	G	12: 102,450,681 (GRCm39)	N445D	probably benign	Het
Grin2c	A	T	11: 115,147,063 (GRCm39)	H377Q	probably benign	Het
Hmgcs1	T	C	13: 120,161,499 (GRCm39)	I97T	possibly damaging	Het
Ifi211	T	C	1: 173,733,769 (GRCm39)	T131A	possibly damaging	Het
Ifngr1	A	G	10: 19,484,931 (GRCm39)	K310R	probably damaging	Het
Il18rap	T	C	1: 40,587,803 (GRCm39)	V467A	probably damaging	Het
Itgad	C	A	7: 127,782,280 (GRCm39)	Q239K	probably benign	Het
Kdm6b	A	T	11: 69,290,778 (GRCm39)	D1630E	unknown	Het
Krt75	C	A	15: 101,473,318 (GRCm39)	*552L	probably null	Het
Mbd2	A	G	18: 70,701,948 (GRCm39)	D154G	probably damaging	Het
Muc4	C	CTAG	16: 32,575,369 (GRCm39)		probably benign	Het
Mutyh	A	T	4: 116,674,153 (GRCm39)	N235Y	probably benign	Het
Myo5b	A	G	18: 74,864,825 (GRCm39)	T1348A	probably benign	Het
Ndufs7	T	C	10: 80,089,619 (GRCm39)		probably null	Het
Nup205	T	G	6: 35,171,511 (GRCm39)	M458R	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or1e32	A	C	11: 73,705,926 (GRCm39)		probably benign	Het
Or1j4	G	T	2: 36,740,285 (GRCm39)	V76F	probably damaging	Het
Or2at1	A	T	7: 99,416,803 (GRCm39)	T145S	probably benign	Het
Or5b119	G	A	19: 13,457,019 (GRCm39)	P181L	probably damaging	Het
Or6b2	T	A	1: 92,407,570 (GRCm39)	M258L	probably benign	Het
Or8b101	A	G	9: 38,020,264 (GRCm39)	N89S	possibly damaging	Het
Or8k25	T	A	2: 86,243,560 (GRCm39)	T279S	probably damaging	Het
Plcl2	T	G	17: 50,913,831 (GRCm39)	I280S	probably benign	Het
Ppargc1a	A	T	5: 51,630,264 (GRCm39)	Y618N	unknown	Het
Rab43	A	T	6: 87,788,348 (GRCm39)	I60N	probably damaging	Het
Rnf126	A	T	10: 79,596,726 (GRCm39)	C231S	probably damaging	Het
Rnf220	T	A	4: 117,164,787 (GRCm39)	E238D	probably damaging	Het
Scn9a	A	T	2: 66,335,193 (GRCm39)	D1265E	probably damaging	Het
Sf3a2	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT	10: 80,640,271 (GRCm39)		probably benign	Het
Sntb2	T	A	8: 107,728,269 (GRCm39)	S406T	probably damaging	Het
Sos1	T	C	17: 80,714,267 (GRCm39)	I1068V	probably benign	Het
Spart	A	G	3: 55,035,697 (GRCm39)	K519E	probably damaging	Het
Tlx3	A	T	11: 33,153,058 (GRCm39)	F134L	probably damaging	Het
Trbj1-2	A	T	6: 41,510,964 (GRCm39)	T10S		Het
Txk	A	C	5: 72,892,536 (GRCm39)	L33R	probably damaging	Het
Ulk2	A	G	11: 61,682,258 (GRCm39)		probably null	Het
Usp20	T	C	2: 30,900,556 (GRCm39)	S357P	probably benign	Het
Wac	T	A	18: 7,921,560 (GRCm39)	N565K	possibly damaging	Het
Zfp1007	A	T	5: 109,823,622 (GRCm39)	C609*	probably null	Het
Zfp709	G	T	8: 72,644,684 (GRCm39)	K704N	probably damaging	Het
Zfp788	C	T	7: 41,299,049 (GRCm39)	Q562*	probably null	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
R4394:Jrkl	UTSW	9	13,245,146 (GRCm39)	nonsense	probably null
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
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'- AAGAACTCTGCCCGTTTGG -3'
(R):5'- GCCCGCAAAATTTCCTGTCAC -3'

Sequencing Primer
(F):5'- TGGCACAAATTGGTCCAGATATG -3'
(R):5'- GCTACAGAGTGAGTTCCAGATTCTC -3'

Posted On

2020-08-07