Mutagenetix > Incidental Mutation

Incidental Mutation 'R6250:Ccnd3'

505939

Institutional Source

Beutler Lab

Gene Symbol

Ccnd3

Ensembl Gene

ENSMUSG00000034165

Gene Name

cyclin D3

Synonyms

9230106B05Rik

MMRRC Submission

044367-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6250 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

47815976-47910614 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 47908487 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 186 (L186*)

Ref Sequence

ENSEMBL: ENSMUSP00000138640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024783] [ENSMUST00000037333] [ENSMUST00000171031] [ENSMUST00000182129] [ENSMUST00000182209] [ENSMUST00000182506] [ENSMUST00000182848] [ENSMUST00000182874] [ENSMUST00000183044] [ENSMUST00000183177] [ENSMUST00000183210] [ENSMUST00000183206] [ENSMUST00000183158] [ENSMUST00000182539] [ENSMUST00000183256] [ENSMUST00000182935]

AlphaFold

P30282

Predicted Effect

probably benign
Transcript: ENSMUST00000024783

SMART Domains

Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988

Domain	Start	End	E-Value	Type
low complexity region	34	47	N/A	INTRINSIC
low complexity region	52	69	N/A	INTRINSIC
Pfam:Bystin	140	430	1.1e-144	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000037333
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000171031
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000182129
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Pfam:Cyclin_C	155	214	2.6e-12	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000182209
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138091
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182281

Predicted Effect

probably null
Transcript: ENSMUST00000182506
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	251	2.02e-3	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000182846
AA Change: L112*

Predicted Effect

probably null
Transcript: ENSMUST00000182848
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Pfam:Cyclin_C	155	243	8.1e-17	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000182874
AA Change: L114*

SMART Domains

Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165
AA Change: L114*

Domain	Start	End	E-Value	Type
PDB:3G33\|D	1	69	3e-42	PDB
SCOP:d1g3nc1	22	67	9e-10	SMART
Blast:CYCLIN	26	66	9e-10	BLAST
PDB:2W9F\|A	73	119	3e-9	PDB
Blast:CYCLIN	87	119	4e-12	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000183044
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000183177
AA Change: L186*

SMART Domains

Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165
AA Change: L186*

Domain	Start	End	E-Value	Type
CYCLIN	62	146	1.12e-17	SMART
Cyclin_C	155	280	3.49e-16	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000183210

Predicted Effect

probably benign
Transcript: ENSMUST00000183206

Predicted Effect

probably benign
Transcript: ENSMUST00000183158

SMART Domains

Protein: ENSMUSP00000138169
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
CYCLIN	1	82	1.71e-13	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000182539

SMART Domains

Protein: ENSMUSP00000138458
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
Pfam:Cyclin_C	1	84	1.4e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183256

SMART Domains

Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165

Domain	Start	End	E-Value	Type
Pfam:Cyclin_C	1	70	9.4e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000182935

Meta Mutation Damage Score

0.9754

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (60/61)

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 through 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 activtiy is required for cell cycle G1/S transition. This protein has been shown to interact with and be involved in the phosphorylation of tumor suppressor protein Rb. The CDK4 activity associated with this cyclin was reported to be necessary for cell cycle progression through G2 phase into mitosis after UV radiation. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit severe thymus hypoplasia, abnormal thymocyte development, and impaired expansion of immature T lymphocytes. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	T	C	2: 150,681,667 (GRCm39)	Y241C	probably damaging	Het
Ak9	T	C	10: 41,265,030 (GRCm39)	V929A	possibly damaging	Het
Ap3s1	T	C	18: 46,887,514 (GRCm39)	F49S	probably damaging	Het
Atp9b	T	C	18: 80,799,736 (GRCm39)	H801R	probably benign	Het
B430218F22Rik	A	G	13: 118,523,944 (GRCm39)		probably benign	Het
Cnbd1	T	A	4: 19,098,255 (GRCm39)	Q55L	probably benign	Het
Commd10	A	G	18: 47,096,755 (GRCm39)	E54G	probably damaging	Het
Cplx3	A	G	9: 57,522,907 (GRCm39)	V151A	probably benign	Het
D6Ertd527e	G	A	6: 87,088,194 (GRCm39)	G119D	unknown	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Disp2	A	T	2: 118,621,247 (GRCm39)	I660F	probably damaging	Het
Eef1a2	A	G	2: 180,792,853 (GRCm39)	F211L	possibly damaging	Het
Epb41	A	T	4: 131,717,184 (GRCm39)	F323L	probably damaging	Het
Eps8l3	A	T	3: 107,797,781 (GRCm39)	I403F	probably benign	Het
Ercc5	T	A	1: 44,203,209 (GRCm39)	V282D	probably damaging	Het
Faim	A	T	9: 98,874,176 (GRCm39)	M1L	probably benign	Het
Fbxo24	A	G	5: 137,619,543 (GRCm39)	F111L	probably damaging	Het
Fcgbpl1	G	A	7: 27,850,139 (GRCm39)	G1195D	probably damaging	Het
Glrx	A	T	13: 75,988,229 (GRCm39)	I48F	probably damaging	Het
Gucy2g	A	T	19: 55,205,856 (GRCm39)	L668Q	probably damaging	Het
Hectd4	A	G	5: 121,477,561 (GRCm39)	D2828G	possibly damaging	Het
Hivep2	T	C	10: 14,007,503 (GRCm39)	V1367A	probably benign	Het
Hrob	A	G	11: 102,145,888 (GRCm39)	T55A	probably benign	Het
Ipo13	A	G	4: 117,769,351 (GRCm39)	V147A	possibly damaging	Het
Jchain	T	C	5: 88,674,034 (GRCm39)	T37A	probably benign	Het
Kif1b	A	G	4: 149,298,100 (GRCm39)	V1034A	probably benign	Het
Krt25	T	A	11: 99,211,989 (GRCm39)	N216I	probably damaging	Het
Mfsd4b1	T	C	10: 39,879,106 (GRCm39)	S264G	possibly damaging	Het
Mxra8	G	T	4: 155,925,546 (GRCm39)	R82L	possibly damaging	Het
Nlrp1b	A	T	11: 71,072,625 (GRCm39)	I406N	probably benign	Het
Or13c7	T	C	4: 43,854,363 (GRCm39)	L18P	possibly damaging	Het
Or2y11	A	T	11: 49,442,711 (GRCm39)	I46F	probably damaging	Het
Or5h23	G	A	16: 58,906,195 (GRCm39)	S217F	probably damaging	Het
Pak5	T	C	2: 136,016,189 (GRCm39)		probably benign	Het
Pcsk4	T	C	10: 80,161,426 (GRCm39)	R222G	probably benign	Het
Pik3cb	A	C	9: 98,976,651 (GRCm39)	F149V	probably benign	Het
Plscr4	G	A	9: 92,366,881 (GRCm39)	R165Q	possibly damaging	Het
Ppp2r2a	A	T	14: 67,276,403 (GRCm39)	V34E	probably damaging	Het
Prpf8	T	G	11: 75,384,334 (GRCm39)	S659R	possibly damaging	Het
Ptprd	A	G	4: 76,047,232 (GRCm39)	S342P	probably damaging	Het
Pum2	T	C	12: 8,794,755 (GRCm39)		probably null	Het
Ranbp3	T	G	17: 56,984,208 (GRCm39)		probably null	Het
Rassf7	A	G	7: 140,797,156 (GRCm39)	E123G	probably damaging	Het
Rcor1	G	T	12: 111,078,311 (GRCm39)	A469S	probably benign	Het
Rcor3	G	T	1: 191,785,196 (GRCm39)	P524Q	probably damaging	Het
Rnf44	A	T	13: 54,829,920 (GRCm39)		probably null	Het
Rtf1	T	C	2: 119,505,658 (GRCm39)	V37A	unknown	Het
Sdc4	A	T	2: 164,273,138 (GRCm39)	D57E	probably damaging	Het
Setbp1	T	C	18: 78,901,217 (GRCm39)	T817A	probably benign	Het
Setd1a	A	G	7: 127,390,471 (GRCm39)	E506G	unknown	Het
Slc30a8	G	A	15: 52,198,545 (GRCm39)	R330Q	probably benign	Het
Snx22	C	A	9: 65,976,923 (GRCm39)	E14*	probably null	Het
Spata31d1a	A	G	13: 59,849,615 (GRCm39)	S838P	possibly damaging	Het
Sprr4	G	T	3: 92,407,770 (GRCm39)	Q11K	unknown	Het
Trpm3	A	G	19: 22,887,418 (GRCm39)	N839S	probably benign	Het
Vps9d1	T	C	8: 123,974,947 (GRCm39)		probably null	Het
Vwa3b	T	C	1: 37,090,966 (GRCm39)		probably null	Het
Ythdf1	T	C	2: 180,552,893 (GRCm39)	T414A	probably damaging	Het
Zfp709	TCGACG	TCG	8: 72,644,552 (GRCm39)		probably benign	Het

Other mutations in Ccnd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01073:Ccnd3	APN	17	47,905,770 (GRCm39)	missense	probably benign
R1494:Ccnd3	UTSW	17	47,909,033 (GRCm39)	splice site	probably null
R4812:Ccnd3	UTSW	17	47,908,505 (GRCm39)	critical splice donor site	probably null
R5589:Ccnd3	UTSW	17	47,909,544 (GRCm39)	missense	probably damaging	1.00
R6381:Ccnd3	UTSW	17	47,816,149 (GRCm39)	utr 5 prime	probably benign
R6854:Ccnd3	UTSW	17	47,889,645 (GRCm39)	utr 5 prime	probably benign
R7695:Ccnd3	UTSW	17	47,908,421 (GRCm39)	missense	probably damaging	1.00
R9007:Ccnd3	UTSW	17	47,905,332 (GRCm39)	critical splice donor site	probably null
X0050:Ccnd3	UTSW	17	47,904,605 (GRCm39)	missense	probably benign	0.13

Predicted Primers

PCR Primer
(F):5'- GACCCTTCTGTCAAATTCTCGG -3'
(R):5'- TCCATCTACCCAAGGTGTACC -3'

Sequencing Primer
(F):5'- AAATTCTCGGCCCCCTCGG -3'
(R):5'- TGGCACCAGGAACAACAAAATATC -3'

Posted On

2018-02-28