Incidental Mutation 'IGL01073:Ccnd3'
ID53018
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ccnd3
Ensembl Gene ENSMUSG00000034165
Gene Namecyclin D3
Synonyms9230106B05Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01073
Quality Score
Status
Chromosome17
Chromosomal Location47505051-47599691 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 47594845 bp
ZygosityHeterozygous
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] [ENSMUST00000182539] [ENSMUST00000182848] [ENSMUST00000182874] [ENSMUST00000182935] [ENSMUST00000183044] [ENSMUST00000183158] [ENSMUST00000183177] [ENSMUST00000183206] [ENSMUST00000183210] [ENSMUST00000183256]
Predicted Effect probably benign
Transcript: ENSMUST00000024783
SMART Domains Protein: ENSMUSP00000024783
Gene: ENSMUSG00000023988

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 251 2.02e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000182539
SMART Domains Protein: ENSMUSP00000138458
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
Pfam:Cyclin_C 1 84 1.4e-11 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000182846
AA Change: T30A
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

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Pfam:Cyclin_C 155 243 8.1e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000182874
SMART Domains Protein: ENSMUSP00000138711
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
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: ENSMUST00000182935
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

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 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

DomainStartEndE-ValueType
CYCLIN 1 82 1.71e-13 SMART
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

DomainStartEndE-ValueType
CYCLIN 62 146 1.12e-17 SMART
Cyclin_C 155 280 3.49e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000183206
Predicted Effect probably benign
Transcript: ENSMUST00000183210
Predicted Effect probably benign
Transcript: ENSMUST00000183256
SMART Domains Protein: ENSMUSP00000138528
Gene: ENSMUSG00000034165

DomainStartEndE-ValueType
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd24 A G 10: 81,639,322 D110G possibly damaging Het
Cntnap5b A T 1: 100,076,030 D245V probably benign Het
Cryab A G 9: 50,754,555 K82R probably damaging Het
Dnmt3b G A 2: 153,670,842 probably benign Het
Eif2b5 A T 16: 20,500,296 K99* probably null Het
Fam222b A G 11: 78,154,488 I292V probably damaging Het
Itpr1 A C 6: 108,413,820 N1560T probably benign Het
Lca5 T A 9: 83,395,475 K605N probably damaging Het
Letm1 T C 5: 33,748,800 D424G possibly damaging Het
Mtif3 C A 5: 146,958,980 R99L probably damaging Het
Nrxn3 A G 12: 89,254,740 M430V probably benign Het
Olfr1226 A T 2: 89,193,137 L299Q possibly damaging Het
Pgap2 T A 7: 102,226,454 probably benign Het
Phf11c A T 14: 59,389,348 S129T probably benign Het
Ptpro A G 6: 137,377,088 N154S probably damaging Het
Rfng C T 11: 120,783,921 R81H probably benign Het
Rnf38 A G 4: 44,137,645 M280T probably benign Het
Rrp7a G A 15: 83,118,081 A185V probably benign Het
Slc22a2 C A 17: 12,584,349 F23L probably benign Het
Slc35f1 A G 10: 53,021,960 T156A probably benign Het
Slfn1 A T 11: 83,121,337 Y93F probably benign Het
Snrnp200 A T 2: 127,214,912 probably benign Het
Sos1 A G 17: 80,422,747 F701S probably damaging Het
Tmem203 A C 2: 25,255,724 I19L probably benign Het
Usp8 A T 2: 126,718,114 K18N probably damaging Het
Vmn2r115 G A 17: 23,345,997 R286K probably benign Het
Vmn2r23 A C 6: 123,712,800 T212P possibly damaging Het
Other mutations in Ccnd3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1494:Ccnd3 UTSW 17 47598108 splice site probably null
R4812:Ccnd3 UTSW 17 47597580 critical splice donor site probably null
R5589:Ccnd3 UTSW 17 47598619 missense probably damaging 1.00
R6250:Ccnd3 UTSW 17 47597562 nonsense probably null
R6381:Ccnd3 UTSW 17 47505224 utr 5 prime probably benign
R6854:Ccnd3 UTSW 17 47578720 utr 5 prime probably benign
R7695:Ccnd3 UTSW 17 47597496 missense probably damaging 1.00
X0050:Ccnd3 UTSW 17 47593680 missense probably benign 0.13
Posted On2013-06-21