Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Ccnd1'

606303

Institutional Source

Beutler Lab

Gene Symbol

Ccnd1

Ensembl Gene

ENSMUSG00000070348

Gene Name

cyclin D1

Synonyms

bcl-1, Cyl-1, CycD1, cD1, PRAD1

MMRRC Submission

045895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.953) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

144483668-144493568 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 144491718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 107 (M107K)

Ref Sequence

ENSEMBL: ENSMUSP00000091495 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093962]

AlphaFold

P25322

Predicted Effect

probably damaging
Transcript: ENSMUST00000093962
AA Change: M107K

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

SMART Domains

Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348
AA Change: M107K

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.2e-22	SMART
Cyclin_C	155	283	1.36e-18	SMART
CYCLIN	163	253	4.41e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted mutations may exhibit reduced body size and viability, impaired retinal development, pregnancy-insensitive mammary glands, and modified development of mammary cancer induced by neu and ras oncogenes, depending on the specific allele or genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnh	G	A	13: 85,337,712 (GRCm39)	A20T	probably benign	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dbt	A	T	3: 116,339,746 (GRCm39)	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxl17	T	C	17: 63,794,820 (GRCm39)	R421G	probably damaging	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766 (GRCm39)	E270G	probably benign	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pcca	T	A	14: 122,800,384 (GRCm39)	D91E	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	Het

Other mutations in Ccnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0076:Ccnd1	UTSW	7	144,493,402 (GRCm39)	missense	probably benign	0.00
R0544:Ccnd1	UTSW	7	144,491,023 (GRCm39)	splice site	probably benign
R1549:Ccnd1	UTSW	7	144,491,073 (GRCm39)	missense	probably benign
R2054:Ccnd1	UTSW	7	144,491,128 (GRCm39)	missense	possibly damaging	0.95
R3895:Ccnd1	UTSW	7	144,491,631 (GRCm39)	missense	probably damaging	0.98
R3962:Ccnd1	UTSW	7	144,487,787 (GRCm39)	missense	probably damaging	1.00
R5624:Ccnd1	UTSW	7	144,491,749 (GRCm39)	missense	probably benign	0.00
R5710:Ccnd1	UTSW	7	144,491,781 (GRCm39)	missense	possibly damaging	0.82
R6380:Ccnd1	UTSW	7	144,493,306 (GRCm39)	missense	probably benign	0.00
R7352:Ccnd1	UTSW	7	144,491,124 (GRCm39)	missense	possibly damaging	0.86
R7672:Ccnd1	UTSW	7	144,487,793 (GRCm39)	missense	possibly damaging	0.75
R7813:Ccnd1	UTSW	7	144,491,622 (GRCm39)	critical splice donor site	probably null
R9764:Ccnd1	UTSW	7	144,491,770 (GRCm39)	missense	probably benign	0.01
X0026:Ccnd1	UTSW	7	144,491,689 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCAGGAGATCTGTCCATGGATG -3'
(R):5'- CCTCTCTGTGCAATCTAGGAGAAG -3'

Sequencing Primer
(F):5'- CATGGATGGCTGGATCTCC -3'
(R):5'- TCTGTGCAATCTAGGAGAAGGGAATG -3'

Posted On

2019-12-20