Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01903:Ccnj'

179592

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnj

Ensembl Gene

ENSMUSG00000025010

Gene Name

cyclin J

Synonyms

D430039C20Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL01903

Quality Score

Status

Chromosome

Chromosomal Location

40819723-40837016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40834454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 351 (E351G)

Ref Sequence

ENSEMBL: ENSMUSP00000112643 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025983] [ENSMUST00000119316] [ENSMUST00000120057]

AlphaFold

Q3TZI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025983
AA Change: E351G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000025983
Gene: ENSMUSG00000025010
AA Change: E351G

Domain	Start	End	E-Value	Type
CYCLIN	45	136	1.59e-13	SMART
Cyclin_C	145	282	7.02e-21	SMART
CYCLIN	153	248	2.1e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000119316
AA Change: E351G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000112643
Gene: ENSMUSG00000025010
AA Change: E351G

Domain	Start	End	E-Value	Type
CYCLIN	45	136	1.59e-13	SMART
Cyclin_C	145	282	7.02e-21	SMART
CYCLIN	153	248	2.1e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120057
AA Change: E339G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113712
Gene: ENSMUSG00000025010
AA Change: E339G

Domain	Start	End	E-Value	Type
CYCLIN	45	136	1.59e-13	SMART
Cyclin_C	145	270	6.99e-7	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 121,949,050 (GRCm39)		probably benign	Het
Adad1	T	A	3: 37,139,231 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,567,633 (GRCm39)	D70E	probably benign	Het
Atat1	T	A	17: 36,208,692 (GRCm39)	I380L	probably benign	Het
Clca4b	A	T	3: 144,634,020 (GRCm39)	Y132N	probably damaging	Het
Cttnbp2	A	C	6: 18,501,964 (GRCm39)	V16G	probably damaging	Het
Gcdh	A	T	8: 85,615,233 (GRCm39)	L389Q	probably damaging	Het
Ggta1	A	T	2: 35,292,569 (GRCm39)	F258Y	possibly damaging	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3696	T	A	14: 18,434,983 (GRCm39)		probably benign	Het
Gramd2b	A	T	18: 56,607,101 (GRCm39)	S72C	probably damaging	Het
Hal	G	A	10: 93,336,469 (GRCm39)		probably benign	Het
Haus4	A	T	14: 54,779,886 (GRCm39)	S288T	possibly damaging	Het
Herc1	A	T	9: 66,294,154 (GRCm39)	K499*	probably null	Het
Hyou1	C	T	9: 44,292,438 (GRCm39)		probably benign	Het
Kng2	C	T	16: 22,806,540 (GRCm39)	R553Q	possibly damaging	Het
Leng9	G	A	7: 4,151,746 (GRCm39)	A310V	probably damaging	Het
Magi3	G	T	3: 103,958,526 (GRCm39)	Q520K	possibly damaging	Het
Mark1	A	G	1: 184,661,577 (GRCm39)		probably benign	Het
Mybl1	T	A	1: 9,741,801 (GRCm39)		probably null	Het
Ncapd2	A	G	6: 125,154,423 (GRCm39)	S598P	probably benign	Het
Or14j5	T	C	17: 37,920,758 (GRCm39)	I295V	possibly damaging	Het
Or4k47	T	C	2: 111,452,003 (GRCm39)	K139E	probably benign	Het
Or5a3	G	A	19: 12,400,047 (GRCm39)	V125I	probably benign	Het
Or5aq1	A	C	2: 86,965,723 (GRCm39)		probably null	Het
Otud6b	C	T	4: 14,818,458 (GRCm39)	E148K	probably benign	Het
Pgghg	A	G	7: 140,526,741 (GRCm39)	Q686R	probably benign	Het
Pkhd1	C	A	1: 20,268,361 (GRCm39)	C3339F	probably damaging	Het
Pla2g4a	T	C	1: 149,716,370 (GRCm39)	D697G	possibly damaging	Het
Serping1	A	T	2: 84,600,116 (GRCm39)		probably null	Het
Sfxn4	T	C	19: 60,847,118 (GRCm39)	Y55C	probably damaging	Het
Sh3bp5l	A	G	11: 58,236,864 (GRCm39)	R274G	probably damaging	Het
Snx13	A	G	12: 35,135,968 (GRCm39)	T88A	probably benign	Het
Spz1	G	T	13: 92,711,407 (GRCm39)	N356K	probably damaging	Het
Taf2	A	T	15: 54,923,412 (GRCm39)	F288L	probably benign	Het
Tti1	T	C	2: 157,842,542 (GRCm39)	E829G	probably benign	Het
Ube2z	T	C	11: 95,955,826 (GRCm39)	D92G	possibly damaging	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r7	A	G	3: 64,626,864 (GRCm39)	Y142H	probably benign	Het
Zfp397	T	A	18: 24,093,086 (GRCm39)	N190K	probably benign	Het

Other mutations in Ccnj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02584:Ccnj	APN	19	40,833,185 (GRCm39)	missense	probably benign	0.04
R0220:Ccnj	UTSW	19	40,833,254 (GRCm39)	missense	probably damaging	0.99
R0452:Ccnj	UTSW	19	40,833,508 (GRCm39)	splice site	probably null
R0693:Ccnj	UTSW	19	40,825,551 (GRCm39)	missense	probably damaging	1.00
R1600:Ccnj	UTSW	19	40,833,101 (GRCm39)	splice site	probably benign
R2237:Ccnj	UTSW	19	40,834,219 (GRCm39)	missense	probably benign	0.00
R2258:Ccnj	UTSW	19	40,834,277 (GRCm39)	missense	probably benign	0.00
R2879:Ccnj	UTSW	19	40,833,158 (GRCm39)	missense	probably damaging	1.00
R6162:Ccnj	UTSW	19	40,833,606 (GRCm39)	missense	probably damaging	1.00
R6384:Ccnj	UTSW	19	40,834,451 (GRCm39)	missense	probably benign	0.09
R6528:Ccnj	UTSW	19	40,820,529 (GRCm39)	splice site	probably null
R6830:Ccnj	UTSW	19	40,833,636 (GRCm39)	missense	probably damaging	0.99
R7338:Ccnj	UTSW	19	40,825,477 (GRCm39)	missense	probably damaging	1.00
R7346:Ccnj	UTSW	19	40,833,394 (GRCm39)	missense	probably benign	0.28
R8472:Ccnj	UTSW	19	40,833,608 (GRCm39)	missense	probably damaging	0.97
R8977:Ccnj	UTSW	19	40,833,383 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-05-07