Mutagenetix > Incidental Mutation

Incidental Mutation 'R6162:Ccnj'

489942

Institutional Source

Beutler Lab

Gene Symbol

Ccnj

Ensembl Gene

ENSMUSG00000025010

Gene Name

cyclin J

Synonyms

D430039C20Rik

MMRRC Submission

044309-MU

Accession Numbers

Essential gene?

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

Stock #

R6162 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40819723-40837016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40833606 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 221 (Y221C)

Ref Sequence

ENSEMBL: ENSMUSP00000113712 (fasta)

Gene Model

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

AlphaFold

Q3TZI6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025983
AA Change: Y233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000025983
Gene: ENSMUSG00000025010
AA Change: Y233C

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: Y233C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112643
Gene: ENSMUSG00000025010
AA Change: Y233C

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: Y221C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113712
Gene: ENSMUSG00000025010
AA Change: Y221C

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

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	G	11: 9,259,047 (GRCm39)	C2924W	probably damaging	Het
Adh4	T	A	3: 138,121,250 (GRCm39)		probably null	Het
Aox3	A	T	1: 58,198,890 (GRCm39)	D695V	possibly damaging	Het
Cct2	T	A	10: 116,894,091 (GRCm39)	D221V	probably damaging	Het
Cd5	G	A	19: 10,703,244 (GRCm39)	T138M	probably damaging	Het
Cep78	A	T	19: 15,952,304 (GRCm39)	M307K	probably benign	Het
Dclk1	C	A	3: 55,163,575 (GRCm39)	D222E	probably benign	Het
Dhrs11	C	T	11: 84,719,605 (GRCm39)	G40D	probably damaging	Het
Dnah10	A	G	5: 124,900,382 (GRCm39)	S3823G	probably benign	Het
Dnai3	T	A	3: 145,750,617 (GRCm39)	I821F	probably damaging	Het
Dock3	A	T	9: 106,841,998 (GRCm39)	Y944N	possibly damaging	Het
Dst	A	G	1: 34,045,318 (GRCm39)	D17G	probably damaging	Het
Ehmt2	C	T	17: 35,118,067 (GRCm39)	R40*	probably null	Het
Fam20a	G	T	11: 109,573,696 (GRCm39)	S229*	probably null	Het
Fbn1	T	C	2: 125,202,147 (GRCm39)	D1242G	probably damaging	Het
Ggt5	T	A	10: 75,425,626 (GRCm39)	V28D	possibly damaging	Het
Gimap4	A	T	6: 48,667,655 (GRCm39)	I137F	probably damaging	Het
Git2	T	A	5: 114,899,717 (GRCm39)	H212L	probably damaging	Het
Gprc6a	T	A	10: 51,491,008 (GRCm39)	I739F	probably benign	Het
Il1rl2	A	G	1: 40,391,038 (GRCm39)	Y327C	probably damaging	Het
Lmf1	A	G	17: 25,831,368 (GRCm39)	I205V	probably benign	Het
Mipep	C	A	14: 61,024,853 (GRCm39)	P98Q	probably damaging	Het
Mroh2b	A	G	15: 4,944,707 (GRCm39)	D436G	probably damaging	Het
Mtcl2	T	A	2: 156,881,784 (GRCm39)	E756V	possibly damaging	Het
Myorg	A	G	4: 41,497,899 (GRCm39)	V577A	possibly damaging	Het
Notch1	C	T	2: 26,352,207 (GRCm39)	V2035I	probably benign	Het
Or1e28-ps1	T	A	11: 73,615,713 (GRCm39)	I46F	probably damaging	Het
Or2ag16	A	T	7: 106,352,227 (GRCm39)	Y123N	probably damaging	Het
Or4c118	G	T	2: 88,975,114 (GRCm39)	F84L	probably benign	Het
Oxa1l	A	G	14: 54,605,789 (GRCm39)	T395A	probably damaging	Het
Phospho2	T	A	2: 69,626,375 (GRCm39)	I177K	probably damaging	Het
Prpf40a	T	C	2: 53,049,317 (GRCm39)	T224A	probably benign	Het
Reln	T	A	5: 22,116,048 (GRCm39)	T2987S	probably damaging	Het
Scn5a	T	A	9: 119,351,621 (GRCm39)	I787F	probably damaging	Het
Sgsm2	A	T	11: 74,782,847 (GRCm39)	D36E	probably damaging	Het
Slc12a3	A	G	8: 95,072,401 (GRCm39)		probably null	Het
Tas2r134	T	C	2: 51,517,571 (GRCm39)	S17P	probably damaging	Het
Top3a	T	C	11: 60,636,763 (GRCm39)	Y609C	probably damaging	Het
Trem2	A	G	17: 48,655,694 (GRCm39)	I84V	probably damaging	Het
Vmn2r12	A	G	5: 109,234,430 (GRCm39)	L594P	probably damaging	Het
Zdbf2	A	T	1: 63,319,977 (GRCm39)		probably benign	Het
Zfr	C	T	15: 12,146,331 (GRCm39)	A294V	unknown	Het

Other mutations in Ccnj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01903:Ccnj	APN	19	40,834,454 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCTGGAAGTGTCTCTGCAAG -3'
(R):5'- ACGATTGTTCACAGCAGTGG -3'

Sequencing Primer
(F):5'- AAGTGTCTCTGCAAGGTGAG -3'
(R):5'- GTGGCAACTGACAGAACTACC -3'

Posted On

2017-10-10