Mutagenetix > Incidental Mutation

Incidental Mutation 'R6345:Ccnjl'

514115

Institutional Source

Beutler Lab

Gene Symbol

Ccnjl

Ensembl Gene

ENSMUSG00000044707

Gene Name

cyclin J-like

Synonyms

LOC380694

MMRRC Submission

044499-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.087) question?

Stock #

R6345 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

43419611-43477824 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 43476165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 263 (T263S)

Ref Sequence

ENSEMBL: ENSMUSP00000058111 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050574] [ENSMUST00000056256]

AlphaFold

Q5SRT8

Predicted Effect

probably benign
Transcript: ENSMUST00000050574
AA Change: T263S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000058111
Gene: ENSMUSG00000044707
AA Change: T263S

Domain	Start	End	E-Value	Type
CYCLIN	43	135	7.96e-14	SMART
Cyclin_C	144	281	2.52e-22	SMART
CYCLIN	153	247	1.58e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000056256

SMART Domains

Protein: ENSMUSP00000062657
Gene: ENSMUSG00000045877

Domain	Start	End	E-Value	Type
transmembrane domain	30	62	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130874

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	T	C	10: 87,061,913 (GRCm39)	I121T	probably benign	Het
4921524L21Rik	T	A	18: 6,626,399 (GRCm39)	M137K	possibly damaging	Het
Angpt4	C	A	2: 151,771,354 (GRCm39)	N223K	probably benign	Het
Ankrd6	T	C	4: 32,810,266 (GRCm39)	R437G	probably damaging	Het
Atp9a	C	T	2: 168,518,093 (GRCm39)	S264N	probably damaging	Het
AY358078	A	C	14: 52,063,749 (GRCm39)	Y465S	probably damaging	Het
Bin3	G	A	14: 70,374,676 (GRCm39)	R235Q	probably benign	Het
Bsn	G	A	9: 107,984,554 (GRCm39)	P3167S	unknown	Het
Camk2g	G	A	14: 20,787,443 (GRCm39)	R274C	probably damaging	Het
Ccdc61	A	T	7: 18,643,914 (GRCm39)		probably null	Het
Col17a1	G	T	19: 47,641,818 (GRCm39)	P944T	possibly damaging	Het
Cyp2c39	A	T	19: 39,501,615 (GRCm39)		probably null	Het
Cyp2c39	G	T	19: 39,501,616 (GRCm39)		probably null	Het
Cyp4a32	T	C	4: 115,459,560 (GRCm39)	V98A	possibly damaging	Het
Dnah9	A	G	11: 65,928,519 (GRCm39)	V2050A	probably damaging	Het
F5	A	G	1: 164,019,520 (GRCm39)	N665S	probably benign	Het
Fbxl6	A	T	15: 76,420,054 (GRCm39)	C520S	probably damaging	Het
Fscn2	C	A	11: 120,252,853 (GRCm39)	H107N	probably damaging	Het
Gfm2	C	T	13: 97,299,461 (GRCm39)	T367M	probably damaging	Het
Gle1	C	G	2: 29,826,127 (GRCm39)	P69A	probably benign	Het
Gpr156	A	T	16: 37,807,881 (GRCm39)	D176V	probably damaging	Het
Grip2	A	G	6: 91,742,369 (GRCm39)	S895P	possibly damaging	Het
Hfm1	C	T	5: 106,989,504 (GRCm39)	G1404D	probably benign	Het
Ifit1bl1	G	A	19: 34,571,570 (GRCm39)	R296*	probably null	Het
Ighv1-39	C	T	12: 114,878,479 (GRCm39)	V31M	possibly damaging	Het
Itgav	A	G	2: 83,632,380 (GRCm39)	E956G	probably damaging	Het
Katnip	C	A	7: 125,352,159 (GRCm39)	D26E	probably damaging	Het
Lsm8	A	G	6: 18,853,644 (GRCm39)	D86G	probably damaging	Het
Mdh1b	T	G	1: 63,754,398 (GRCm39)	H390P	possibly damaging	Het
Mtrf1l	A	T	10: 5,767,468 (GRCm39)	I216N	possibly damaging	Het
Muc16	G	A	9: 18,566,222 (GRCm39)	T2099I	unknown	Het
Myh7	T	C	14: 55,221,149 (GRCm39)	R925G	probably damaging	Het
Myo1h	T	A	5: 114,489,769 (GRCm39)	I658N	probably damaging	Het
Myo5a	A	T	9: 75,097,195 (GRCm39)	D81V	possibly damaging	Het
Nell1	G	A	7: 49,625,171 (GRCm39)	C12Y	possibly damaging	Het
Obscn	T	C	11: 58,944,522 (GRCm39)	Y4724C	probably damaging	Het
Or8k53	A	G	2: 86,177,892 (GRCm39)	Y73H	probably damaging	Het
Pah	G	A	10: 87,412,049 (GRCm39)	D315N	probably damaging	Het
Per2	A	G	1: 91,376,444 (GRCm39)	V143A	probably damaging	Het
Plcxd1	T	C	5: 110,248,165 (GRCm39)	V38A	probably benign	Het
Pld1	A	G	3: 28,184,896 (GRCm39)		probably benign	Het
Plekhh2	A	G	17: 84,883,215 (GRCm39)	N761S	probably benign	Het
Polh	T	C	17: 46,493,664 (GRCm39)	I318V	probably benign	Het
Prex1	T	C	2: 166,414,880 (GRCm39)	Q1323R	probably null	Het
Rb1cc1	T	A	1: 6,333,481 (GRCm39)	S1440T	probably benign	Het
Rbm19	G	T	5: 120,265,105 (GRCm39)	W382L	possibly damaging	Het
Rchy1	T	C	5: 92,105,801 (GRCm39)	D49G	probably benign	Het
Ric1	A	G	19: 29,581,485 (GRCm39)	D1402G	probably benign	Het
S1pr3	G	T	13: 51,573,067 (GRCm39)	A83S	probably damaging	Het
S1pr3	C	A	13: 51,573,068 (GRCm39)	A83D	probably damaging	Het
Selplg	G	A	5: 113,958,210 (GRCm39)	P32L	probably benign	Het
Serpinb9c	T	C	13: 33,333,978 (GRCm39)	R355G	probably damaging	Het
Slx4	G	C	16: 3,808,714 (GRCm39)	Q409E	probably benign	Het
Sntg1	A	C	1: 8,653,508 (GRCm39)	L243R	possibly damaging	Het
Specc1l	G	T	10: 75,084,322 (GRCm39)	D682Y	probably damaging	Het
Spen	C	T	4: 141,198,944 (GRCm39)	V3228I	possibly damaging	Het
Strip1	T	C	3: 107,535,516 (GRCm39)	E69G	probably damaging	Het
Tasp1	C	A	2: 139,793,457 (GRCm39)	V240L	probably damaging	Het
Tdrd9	T	A	12: 112,001,042 (GRCm39)	F787L	probably damaging	Het
Vmn1r228	A	G	17: 20,997,144 (GRCm39)	S125P	probably damaging	Het
Wdhd1	A	G	14: 47,489,379 (GRCm39)	M718T	probably damaging	Het

Other mutations in Ccnjl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00309:Ccnjl	APN	11	43,474,023 (GRCm39)	missense	probably benign	0.00
IGL01622:Ccnjl	APN	11	43,476,154 (GRCm39)	missense	probably benign	0.06
IGL01623:Ccnjl	APN	11	43,476,154 (GRCm39)	missense	probably benign	0.06
IGL02268:Ccnjl	APN	11	43,470,615 (GRCm39)	missense	probably benign	0.00
PIT4431001:Ccnjl	UTSW	11	43,470,534 (GRCm39)	small insertion	probably benign
R3434:Ccnjl	UTSW	11	43,470,688 (GRCm39)	missense	probably damaging	0.98
R4867:Ccnjl	UTSW	11	43,474,055 (GRCm39)	missense	possibly damaging	0.73
R4897:Ccnjl	UTSW	11	43,470,718 (GRCm39)	missense	probably damaging	1.00
R5111:Ccnjl	UTSW	11	43,447,544 (GRCm39)	missense	probably benign
R7691:Ccnjl	UTSW	11	43,474,028 (GRCm39)	missense	probably benign	0.01
R8041:Ccnjl	UTSW	11	43,470,538 (GRCm39)	missense	probably damaging	0.97
R9538:Ccnjl	UTSW	11	43,470,564 (GRCm39)	missense	probably benign
R9669:Ccnjl	UTSW	11	43,476,166 (GRCm39)	missense	probably benign	0.01
R9737:Ccnjl	UTSW	11	43,476,166 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGGGGACAGAAACAGCTGC -3'
(R):5'- ATGGACCAGTGTCTCCTGAG -3'

Sequencing Primer
(F):5'- CCTGAGTCTAGTAAGTCGATAGCC -3'
(R):5'- ACCAGTGTCTCCTGAGAGCAG -3'

Posted On

2018-04-27