Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01073:Ccnd3'

53018

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ccnd3

Ensembl Gene

ENSMUSG00000034165

Gene Name

cyclin D3

Synonyms

9230106B05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01073

Quality Score

Status

Chromosome

Chromosomal Location

47815976-47910614 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 47905770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 104 (T104A)

Ref Sequence

ENSEMBL: ENSMUSP00000138640 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000037333
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000040488
Gene: ENSMUSG00000034165
AA Change: T104A

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: ENSMUST00000171031
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000126141
Gene: ENSMUSG00000034165
AA Change: T104A

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: ENSMUST00000182129
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138486
Gene: ENSMUSG00000034165
AA Change: T104A

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 benign
Transcript: ENSMUST00000182209
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138091
Gene: ENSMUSG00000034165
AA Change: T104A

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 benign
Transcript: ENSMUST00000182506
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138180
Gene: ENSMUSG00000034165
AA Change: T104A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183158
AA Change: T40A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138169
Gene: ENSMUSG00000034165
AA Change: T40A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000182848
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138715
Gene: ENSMUSG00000034165
AA Change: T104A

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 benign
Transcript: ENSMUST00000183177
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138640
Gene: ENSMUSG00000034165
AA Change: T104A

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: ENSMUST00000183044
AA Change: T104A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000138220
Gene: ENSMUSG00000034165
AA Change: T104A

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

Predicted Effect

unknown
Transcript: ENSMUST00000182846
AA Change: T30A

Predicted Effect

probably benign
Transcript: ENSMUST00000183206

Predicted Effect

probably benign
Transcript: ENSMUST00000183210

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: ENSMUST00000182935

Predicted Effect

probably benign
Transcript: ENSMUST00000182874

SMART Domains

Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165

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 benign
Transcript: ENSMUST00000183256

SMART Domains

Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165

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

Coding Region Coverage

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 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd24	A	G	10: 81,475,156 (GRCm39)	D110G	possibly damaging	Het
Cntnap5b	A	T	1: 100,003,755 (GRCm39)	D245V	probably benign	Het
Cryab	A	G	9: 50,665,855 (GRCm39)	K82R	probably damaging	Het
Dnmt3b	G	A	2: 153,512,762 (GRCm39)		probably benign	Het
Eif2b5	A	T	16: 20,319,046 (GRCm39)	K99*	probably null	Het
Fam222b	A	G	11: 78,045,314 (GRCm39)	I292V	probably damaging	Het
Itpr1	A	C	6: 108,390,781 (GRCm39)	N1560T	probably benign	Het
Lca5	T	A	9: 83,277,528 (GRCm39)	K605N	probably damaging	Het
Letm1	T	C	5: 33,906,144 (GRCm39)	D424G	possibly damaging	Het
Mtif3	C	A	5: 146,895,790 (GRCm39)	R99L	probably damaging	Het
Nrxn3	A	G	12: 89,221,510 (GRCm39)	M430V	probably benign	Het
Or4c121	A	T	2: 89,023,481 (GRCm39)	L299Q	possibly damaging	Het
Pgap2	T	A	7: 101,875,661 (GRCm39)		probably benign	Het
Phf11c	A	T	14: 59,626,797 (GRCm39)	S129T	probably benign	Het
Ptpro	A	G	6: 137,354,086 (GRCm39)	N154S	probably damaging	Het
Rfng	C	T	11: 120,674,747 (GRCm39)	R81H	probably benign	Het
Rnf38	A	G	4: 44,137,645 (GRCm39)	M280T	probably benign	Het
Rrp7a	G	A	15: 83,002,282 (GRCm39)	A185V	probably benign	Het
Slc22a2	C	A	17: 12,803,236 (GRCm39)	F23L	probably benign	Het
Slc35f1	A	G	10: 52,898,056 (GRCm39)	T156A	probably benign	Het
Slfn1	A	T	11: 83,012,163 (GRCm39)	Y93F	probably benign	Het
Snrnp200	A	T	2: 127,056,832 (GRCm39)		probably benign	Het
Sos1	A	G	17: 80,730,176 (GRCm39)	F701S	probably damaging	Het
Tmem203	A	C	2: 25,145,736 (GRCm39)	I19L	probably benign	Het
Usp8	A	T	2: 126,560,034 (GRCm39)	K18N	probably damaging	Het
Vmn2r115	G	A	17: 23,564,971 (GRCm39)	R286K	probably benign	Het
Vmn2r23	A	C	6: 123,689,759 (GRCm39)	T212P	possibly damaging	Het

Other mutations in Ccnd3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6250:Ccnd3	UTSW	17	47,908,487 (GRCm39)	nonsense	probably null
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

Posted On

2013-06-21