Mutagenetix > Incidental Mutation

Incidental Mutation 'R1715:Ccng1'

190948

Institutional Source

Beutler Lab

Gene Symbol

Ccng1

Ensembl Gene

ENSMUSG00000020326

Gene Name

cyclin G1

Synonyms

cyclin G

MMRRC Submission

039748-MU

Accession Numbers

Essential gene?

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

Stock #

R1715 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40639379-40646044 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 40642941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 169 (P169S)

Ref Sequence

ENSEMBL: ENSMUSP00000020576 (fasta)

Gene Model

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

AlphaFold

P51945

Predicted Effect

probably benign
Transcript: ENSMUST00000020576
AA Change: P169S

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000020576
Gene: ENSMUSG00000020326
AA Change: P169S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151359

Meta Mutation Damage Score

0.0587

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.1%

Validation Efficiency

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	A	11: 109,982,406 (GRCm39)	T12M	probably damaging	Het
Alms1	T	A	6: 85,606,034 (GRCm39)	Y2561*	probably null	Het
Atp10a	G	A	7: 58,436,253 (GRCm39)	V348I	probably damaging	Het
Best2	T	C	8: 85,737,852 (GRCm39)	Y181C	probably benign	Het
Btaf1	T	A	19: 36,946,521 (GRCm39)	D442E	probably damaging	Het
Carmil3	T	G	14: 55,741,989 (GRCm39)	V1153G	probably benign	Het
Cc2d2a	A	G	5: 43,876,003 (GRCm39)	I993M	probably damaging	Het
Cip2a	C	T	16: 48,826,082 (GRCm39)	T383I	probably benign	Het
Cmtr2	T	C	8: 110,949,430 (GRCm39)	L580P	probably damaging	Het
Col22a1	T	C	15: 71,878,830 (GRCm39)	E109G	possibly damaging	Het
Cplane1	T	A	15: 8,256,384 (GRCm39)		probably null	Het
Crispld2	G	T	8: 120,750,388 (GRCm39)	W264L	possibly damaging	Het
Cyp2c38	T	C	19: 39,393,239 (GRCm39)	H276R	probably benign	Het
Dag1	A	T	9: 108,085,914 (GRCm39)	V409E	possibly damaging	Het
Efcab15	T	C	11: 103,090,650 (GRCm39)		probably null	Het
Emc8	T	C	8: 121,385,294 (GRCm39)	N146S	probably benign	Het
Glt8d1	T	C	14: 30,733,478 (GRCm39)	V321A	possibly damaging	Het
Gm5174	C	T	10: 86,492,776 (GRCm39)		noncoding transcript	Het
Hdac10	G	T	15: 89,010,912 (GRCm39)		probably null	Het
Hectd4	A	G	5: 121,482,881 (GRCm39)	D3144G	possibly damaging	Het
Ifna11	C	T	4: 88,738,473 (GRCm39)	S93L	probably damaging	Het
Il16	T	C	7: 83,297,936 (GRCm39)	N431S	probably benign	Het
Irf8	A	T	8: 121,481,127 (GRCm39)	E237V	probably damaging	Het
Lrp1b	A	G	2: 41,075,993 (GRCm39)	Y1769H	probably damaging	Het
Lrrc9	A	G	12: 72,524,073 (GRCm39)	N761D	probably damaging	Het
Mbtps1	T	C	8: 120,269,469 (GRCm39)	Y207C	probably benign	Het
Myo9a	A	G	9: 59,739,583 (GRCm39)	E765G	probably damaging	Het
Nlrp3	A	G	11: 59,434,177 (GRCm39)	D80G	probably damaging	Het
Or12k8	G	A	2: 36,975,188 (GRCm39)	P191S	probably damaging	Het
Or2ag15	G	C	7: 106,340,755 (GRCm39)	P129A	probably damaging	Het
Or7g18	A	T	9: 18,787,090 (GRCm39)	I156F	probably benign	Het
Pcyt2	T	A	11: 120,506,677 (GRCm39)		probably null	Het
Plxnd1	T	C	6: 115,945,642 (GRCm39)	T944A	probably benign	Het
Prss3b	A	G	6: 41,009,870 (GRCm39)		probably null	Het
Psd4	A	T	2: 24,295,344 (GRCm39)	I833F	probably damaging	Het
Psmd7	A	G	8: 108,307,817 (GRCm39)	I222T	probably benign	Het
Rap2b	A	G	3: 61,272,611 (GRCm39)	E45G	probably damaging	Het
Rbm22	T	C	18: 60,693,916 (GRCm39)	S7P	possibly damaging	Het
Rbpms2	ACTGCTGCTGCTGCTGC	ACTGCTGCTGCTGCTGCTGC	9: 65,558,948 (GRCm39)		probably benign	Het
Rfx4	A	G	10: 84,680,144 (GRCm39)	N107S	probably damaging	Het
Ripk2	T	A	4: 16,155,192 (GRCm39)		probably null	Het
Rpgrip1	T	A	14: 52,378,148 (GRCm39)	C499S	possibly damaging	Het
Scarf1	T	C	11: 75,414,870 (GRCm39)	S515P	probably damaging	Het
Sgip1	T	C	4: 102,772,256 (GRCm39)	V215A	probably benign	Het
Sis	T	C	3: 72,796,343 (GRCm39)	I1813V	possibly damaging	Het
Slc17a3	A	T	13: 24,040,724 (GRCm39)	T317S	probably benign	Het
Slc35e1	T	C	8: 73,237,821 (GRCm39)	N340S	probably benign	Het
Smg6	A	G	11: 74,820,256 (GRCm39)	I176V	probably benign	Het
Smim17	T	C	7: 6,432,325 (GRCm39)	L89S	probably damaging	Het
Synm	T	C	7: 67,386,051 (GRCm39)	N95S	probably damaging	Het
Tdrd9	A	G	12: 112,002,873 (GRCm39)	K841E	possibly damaging	Het
Tep1	G	T	14: 51,092,024 (GRCm39)	F570L	possibly damaging	Het
Tgm3	G	A	2: 129,868,734 (GRCm39)		probably null	Het
Tra2b	T	C	16: 22,071,496 (GRCm39)	Y128C	possibly damaging	Het
Vmn2r17	T	C	5: 109,576,110 (GRCm39)	V327A	probably benign	Het
Wdr20rt	A	T	12: 65,274,088 (GRCm39)	D344V	probably damaging	Het
Zfp940	A	G	7: 29,544,363 (GRCm39)	C515R	probably damaging	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
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
R7431:Ccng1	UTSW	11	40,644,745 (GRCm39)	missense	possibly damaging	0.74
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'- TGACTGGCAGGCATCTTTTCACTTC -3'
(R):5'- ACCCAAAGCCACTGGTTTCAAGTAG -3'

Sequencing Primer
(F):5'- CACTTCTGTTAGGCAGCAAAG -3'
(R):5'- GTGTCCTACTGAAGCACTGTAAAG -3'

Posted On

2014-05-14