Mutagenetix > Incidental Mutation

Incidental Mutation 'R5724:Jrkl'

452387

Institutional Source

Beutler Lab

Gene Symbol

Jrkl

Ensembl Gene

ENSMUSG00000079083

Gene Name

Jrk-like

Synonyms

C030035D04Rik

MMRRC Submission

043342-MU

Accession Numbers

Essential gene?

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

Stock #

R5724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13242795-13245746 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13244891 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 257 (M257V)

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: M257V

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000128798
Gene: ENSMUSG00000079083
AA Change: M257V

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

0.1157

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 93.1%

Validation Efficiency

100% (62/62)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3830408C21Rik	A	T	13: 107,168,905 (GRCm39)		noncoding transcript	Het
Adam5	T	A	8: 25,294,511 (GRCm39)	K363*	probably null	Het
Adamts12	T	C	15: 11,286,836 (GRCm39)	Y814H	probably benign	Het
Adar	G	T	3: 89,642,476 (GRCm39)	G119V	probably benign	Het
Adprs	G	T	4: 126,211,869 (GRCm39)	Q148K	probably damaging	Het
Atr	G	T	9: 95,748,641 (GRCm39)	L395F	probably damaging	Het
Bahcc1	A	G	11: 120,176,192 (GRCm39)	I1946V	possibly damaging	Het
Bend4	T	A	5: 67,575,284 (GRCm39)	D199V	probably damaging	Het
Bpifb1	C	A	2: 154,046,712 (GRCm39)	H77Q	probably benign	Het
Clca3a1	T	C	3: 144,714,833 (GRCm39)	T595A	probably benign	Het
Crebbp	A	T	16: 3,905,499 (GRCm39)		probably benign	Het
Cxcl16	T	C	11: 70,349,990 (GRCm39)	D12G	probably damaging	Het
Dnah10	T	C	5: 124,819,090 (GRCm39)	W459R	probably benign	Het
Dock8	T	C	19: 25,099,785 (GRCm39)	L636P	probably damaging	Het
Eif2ak3	A	G	6: 70,853,824 (GRCm39)	T197A	probably benign	Het
Fbxo40	T	A	16: 36,790,692 (GRCm39)	R139S	probably benign	Het
Fer	C	A	17: 64,231,152 (GRCm39)	T301K	probably damaging	Het
Fgf21	A	T	7: 45,264,729 (GRCm39)	M1K	probably null	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Gm38706	A	T	6: 130,459,963 (GRCm39)		noncoding transcript	Het
H2-Q6	A	C	17: 35,644,628 (GRCm39)	Y139S	probably damaging	Het
Ift70a2	T	C	2: 75,808,074 (GRCm39)	D146G	probably benign	Het
Igkv4-53	A	T	6: 69,625,991 (GRCm39)	Y59N	probably damaging	Het
Kat8	G	A	7: 127,523,988 (GRCm39)	E343K	probably damaging	Het
Klhl26	T	A	8: 70,904,404 (GRCm39)	Y468F	probably damaging	Het
Lamb2	T	A	9: 108,357,950 (GRCm39)		probably null	Het
Lcp1	A	G	14: 75,464,422 (GRCm39)	T548A	probably benign	Het
Lct	T	A	1: 128,228,073 (GRCm39)	Q1140L	probably benign	Het
Lrp2	T	G	2: 69,281,726 (GRCm39)	N3882H	probably damaging	Het
Magi1	A	G	6: 93,657,852 (GRCm39)	I1126T	probably benign	Het
Magi1	A	G	6: 93,722,682 (GRCm39)	S399P	probably damaging	Het
Med16	A	G	10: 79,731,243 (GRCm39)	C825R	probably damaging	Het
Mtx3	C	T	13: 92,984,095 (GRCm39)	P124L	probably damaging	Het
Nabp2	C	T	10: 128,245,555 (GRCm39)		probably benign	Het
Or5b113	T	A	19: 13,342,515 (GRCm39)	H174Q	possibly damaging	Het
Pak4	A	T	7: 28,264,005 (GRCm39)	S244T	possibly damaging	Het
Pccb	C	T	9: 100,869,900 (GRCm39)	V307I	probably benign	Het
Plekhh2	A	G	17: 84,874,233 (GRCm39)	D506G	probably benign	Het
Plk4	T	C	3: 40,755,481 (GRCm39)	V26A	probably damaging	Het
Ppp2r3c	A	T	12: 55,344,617 (GRCm39)	M117K	probably benign	Het
Pramel21	A	G	4: 143,344,026 (GRCm39)	D442G	probably benign	Het
Pspc1	C	T	14: 57,015,529 (GRCm39)	E30K	probably benign	Het
Reps1	A	G	10: 17,990,231 (GRCm39)	S448G	possibly damaging	Het
Rnf34	C	T	5: 123,004,952 (GRCm39)	Q241*	probably null	Het
Sgta	A	T	10: 80,883,522 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Siglech	A	G	7: 55,418,293 (GRCm39)	N87S	probably damaging	Het
Sptbn1	A	G	11: 30,094,113 (GRCm39)	I392T	possibly damaging	Het
St18	T	A	1: 6,841,174 (GRCm39)	M21K	probably benign	Het
Sugp1	C	T	8: 70,522,799 (GRCm39)	R500C	probably damaging	Het
Tasp1	T	C	2: 139,899,339 (GRCm39)	K5E	probably damaging	Het
Tbx3	G	A	5: 119,813,668 (GRCm39)	V235I	possibly damaging	Het
Toporsl	A	T	4: 52,611,346 (GRCm39)	N413I	probably damaging	Het
Ubqln3	G	A	7: 103,790,674 (GRCm39)	P472L	probably benign	Het
Zfp60	A	G	7: 27,447,758 (GRCm39)	Y142C	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
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
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'- TGTTATGGAGAAGACCTGCAC -3'
(R):5'- GGGAATGGATGGTGATTTTAACCC -3'

Sequencing Primer
(F):5'- CTGACCCAAGGGCTGAATCAATG -3'
(R):5'- GTAAATGTACTGTCCCTGGGCAC -3'

Posted On

2017-01-03