Mutagenetix > Incidental Mutation

Incidental Mutation 'R7431:Ccng1'

576487

Institutional Source

Beutler Lab

Gene Symbol

Ccng1

Ensembl Gene

ENSMUSG00000020326

Gene Name

cyclin G1

Synonyms

cyclin G

MMRRC Submission

045509-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.340) question?

Stock #

R7431 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

40639379-40646044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40644745 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 51 (R51W)

Ref Sequence

ENSEMBL: ENSMUSP00000020576 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020576]

AlphaFold

P51945

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020576
AA Change: R51W

PolyPhen 2 Score 0.741 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000020576
Gene: ENSMUSG00000020326
AA Change: R51W

Domain	Start	End	E-Value	Type
CYCLIN	56	142	3.63e-17	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

97% (77/79)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The eukaryotic cell cycle is governed by cyclin-dependent protein kinases (CDKs) whose activities are regulated by cyclins and CDK inhibitors. The protein encoded by this gene is a member of the cyclin family and contains the cyclin box. The encoded protein lacks the protein destabilizing (PEST) sequence that is present in other family members. Transcriptional activation of this gene can be induced by tumor protein p53. Two transcript variants encoding the same protein have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Depending on the allele, homozygous mutants exhibit increased cellular sensitivity to gamma-irradiation or decreased incidence of induced hepatic tumors. [provided by MGI curators]

Allele List at MGI

All alleles(7) : Targeted, knock-out(2) Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	CA	C	11: 110,018,252 (GRCm39)		probably null	Het
Abcf3	G	T	16: 20,377,539 (GRCm39)	R510L	probably benign	Het
Abcg4	T	A	9: 44,185,997 (GRCm39)	I625F	possibly damaging	Het
Adam22	A	T	5: 8,142,818 (GRCm39)	S806T	probably damaging	Het
Adcy4	T	C	14: 56,010,129 (GRCm39)	I718V	probably benign	Het
Adgb	A	T	10: 10,267,699 (GRCm39)		probably null	Het
Aldoart1	T	A	4: 72,769,678 (GRCm39)	K377*	probably null	Het
Apc2	T	A	10: 80,138,017 (GRCm39)	V100E	possibly damaging	Het
Asxl3	T	G	18: 22,650,010 (GRCm39)	D666E	probably damaging	Het
Atg4c	A	T	4: 99,109,632 (GRCm39)	I200F	possibly damaging	Het
Atp1a4	A	G	1: 172,078,474 (GRCm39)	F255L	probably benign	Het
Bod1l	A	C	5: 41,970,463 (GRCm39)		probably null	Het
Cacna2d4	A	T	6: 119,221,237 (GRCm39)	T250S	probably damaging	Het
Ccdc202	A	G	14: 96,119,273 (GRCm39)	H10R	probably benign	Het
Chd6	T	C	2: 160,868,248 (GRCm39)	E366G	possibly damaging	Het
Clca4b	A	T	3: 144,616,894 (GRCm39)	S919T	probably benign	Het
Col5a3	T	C	9: 20,682,131 (GRCm39)	*1740W	probably null	Het
Col6a5	A	T	9: 105,805,468 (GRCm39)	I1146K	unknown	Het
Cpxm1	T	C	2: 130,235,966 (GRCm39)	T399A	probably benign	Het
Cpz	T	C	5: 35,668,486 (GRCm39)	T375A	probably benign	Het
Cyp2b13	T	A	7: 25,760,976 (GRCm39)	V11D	probably damaging	Het
Cyp39a1	A	G	17: 43,993,906 (GRCm39)	T189A	probably benign	Het
Desi2	C	T	1: 178,084,007 (GRCm39)	Q52*	probably null	Het
Dhx15	A	G	5: 52,319,953 (GRCm39)	V418A	probably damaging	Het
Dnah3	T	A	7: 119,650,967 (GRCm39)	M978L	probably damaging	Het
Dpagt1	T	A	9: 44,237,384 (GRCm39)	C17*	probably null	Het
Dph5	A	T	3: 115,686,381 (GRCm39)	K52N	possibly damaging	Het
Dpp4	G	T	2: 62,182,582 (GRCm39)	N566K	probably benign	Het
Elavl4	T	C	4: 110,083,830 (GRCm39)	Y94C	probably damaging	Het
Fat2	G	A	11: 55,199,927 (GRCm39)	T1049I	probably damaging	Het
Fat4	T	A	3: 39,063,306 (GRCm39)	Y4421N	possibly damaging	Het
Fcrl2	C	A	3: 87,166,233 (GRCm39)	A181S	probably damaging	Het
Garre1	T	C	7: 33,984,219 (GRCm39)	I135V	possibly damaging	Het
Glg1	G	T	8: 111,887,386 (GRCm39)	N456K	unknown	Het
Gm10228	A	G	16: 88,838,101 (GRCm39)	S68P	unknown	Het
Golga4	G	A	9: 118,388,799 (GRCm39)	E1974K	probably damaging	Het
Heatr9	G	T	11: 83,410,094 (GRCm39)	P49Q	probably damaging	Het
Hmgxb3	A	T	18: 61,280,517 (GRCm39)	V662D	probably damaging	Het
Hs3st4	T	C	7: 123,582,513 (GRCm39)	L37P	probably damaging	Het
Ifi205	A	T	1: 173,855,943 (GRCm39)	M29K	probably benign	Het
Igkv1-35	C	T	6: 69,987,988 (GRCm39)	V103M	probably damaging	Het
Klf13	T	A	7: 63,541,504 (GRCm39)	K208*	probably null	Het
Klhl36	A	G	8: 120,597,121 (GRCm39)	N274S	probably benign	Het
Mosmo	T	A	7: 120,329,873 (GRCm39)	L165I	probably benign	Het
Mtcl1	G	A	17: 66,649,901 (GRCm39)	Q1855*	probably null	Het
Muc16	A	G	9: 18,519,289 (GRCm39)	V208A		Het
Nin	T	G	12: 70,124,997 (GRCm39)	R108S		Het
Odad1	T	G	7: 45,578,670 (GRCm39)	L81R	probably damaging	Het
Or13c7d	T	C	4: 43,770,882 (GRCm39)	N43S	probably damaging	Het
Polr1a	G	A	6: 71,903,643 (GRCm39)	V319I	probably benign	Het
Pramel7	A	G	2: 87,320,282 (GRCm39)	V337A	possibly damaging	Het
Prkar2b	A	T	12: 32,013,150 (GRCm39)		probably null	Het
R3hdm2	T	A	10: 127,294,016 (GRCm39)	M170K	probably benign	Het
Rbm26	A	G	14: 105,354,528 (GRCm39)	I919T	possibly damaging	Het
Rimkla	A	G	4: 119,335,008 (GRCm39)	M125T	probably benign	Het
Sag	T	A	1: 87,749,059 (GRCm39)	F153I	possibly damaging	Het
Sbf2	G	T	7: 109,950,957 (GRCm39)	D1163E	probably damaging	Het
Scgb2b24	T	C	7: 33,438,674 (GRCm39)	I13V	probably benign	Het
Scin	G	A	12: 40,183,921 (GRCm39)	H63Y	probably damaging	Het
Sele	A	G	1: 163,879,189 (GRCm39)	T275A	probably damaging	Het
Slc22a15	T	A	3: 101,805,256 (GRCm39)	T144S	probably benign	Het
Slc8a1	T	A	17: 81,749,092 (GRCm39)	K650I	probably benign	Het
Slc9c1	G	T	16: 45,413,847 (GRCm39)	V992F	probably damaging	Het
Spag16	A	T	1: 69,963,031 (GRCm39)	T393S	unknown	Het
Taf15	G	A	11: 83,395,779 (GRCm39)	D495N	unknown	Het
Tas2r144	T	A	6: 42,192,908 (GRCm39)	I216N	probably damaging	Het
Tbccd1	G	T	16: 22,644,563 (GRCm39)	P271Q	probably benign	Het
Tcf4	C	A	18: 69,480,249 (GRCm39)		probably null	Het
Thap4	A	T	1: 93,678,223 (GRCm39)	S188T	probably benign	Het
Trank1	T	C	9: 111,191,470 (GRCm39)	V493A	probably benign	Het
Trip11	A	G	12: 101,850,278 (GRCm39)	V1262A	possibly damaging	Het
Tspan2	T	A	3: 102,657,107 (GRCm39)	W35R	probably damaging	Het
Usp39	G	T	6: 72,313,251 (GRCm39)	T313N	possibly damaging	Het
Vmn2r83	T	A	10: 79,327,306 (GRCm39)	L638Q	probably damaging	Het
Vps29	T	C	5: 122,492,541 (GRCm39)	V2A	probably benign	Het
Wrap53	A	G	11: 69,469,313 (GRCm39)	F148L	possibly damaging	Het
Znfx1	T	C	2: 166,897,712 (GRCm39)	Y404C	probably damaging	Het
Zrsr2-ps1	A	G	11: 22,923,580 (GRCm39)	E118G	probably benign	Het

Other mutations in Ccng1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00693:Ccng1	APN	11	40,644,885 (GRCm39)	missense	probably benign	0.00
IGL01875:Ccng1	APN	11	40,643,183 (GRCm39)	missense	probably benign	0.09
IGL02986:Ccng1	APN	11	40,641,690 (GRCm39)	utr 3 prime	probably benign
G5030:Ccng1	UTSW	11	40,644,629 (GRCm39)	splice site	probably benign
R1375:Ccng1	UTSW	11	40,642,941 (GRCm39)	missense	probably benign	0.02
R1377:Ccng1	UTSW	11	40,642,941 (GRCm39)	missense	probably benign	0.02
R1715:Ccng1	UTSW	11	40,642,941 (GRCm39)	missense	probably benign	0.02
R3620:Ccng1	UTSW	11	40,642,992 (GRCm39)	missense	probably benign	0.01
R3857:Ccng1	UTSW	11	40,644,660 (GRCm39)	missense	probably damaging	0.99
R3858:Ccng1	UTSW	11	40,644,660 (GRCm39)	missense	probably damaging	0.99
R5082:Ccng1	UTSW	11	40,643,015 (GRCm39)	missense	possibly damaging	0.77
R5172:Ccng1	UTSW	11	40,642,113 (GRCm39)	missense	probably benign
R5521:Ccng1	UTSW	11	40,643,093 (GRCm39)	missense	possibly damaging	0.87
R7961:Ccng1	UTSW	11	40,642,096 (GRCm39)	missense	probably benign	0.00
R8009:Ccng1	UTSW	11	40,642,096 (GRCm39)	missense	probably benign	0.00
R8794:Ccng1	UTSW	11	40,644,826 (GRCm39)	missense	probably benign
R9036:Ccng1	UTSW	11	40,643,078 (GRCm39)	missense	possibly damaging	0.55
R9530:Ccng1	UTSW	11	40,644,885 (GRCm39)	missense	probably benign	0.00
T0975:Ccng1	UTSW	11	40,644,871 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGCCCTAATCCAGAAATTTG -3'
(R):5'- CAGGCAGGGTTCTTATGCTC -3'

Sequencing Primer
(F):5'- AGGGCCTCAGATTTCAACTG -3'
(R):5'- CAGGCAGGGTTCTTATGCTCTTTTC -3'

Posted On

2019-10-07