Incidental Mutation 'R0076:Ccnd1'
| ID |
212556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccnd1
|
| Ensembl Gene |
ENSMUSG00000070348 |
| Gene Name |
cyclin D1 |
| Synonyms |
bcl-1, Cyl-1, CycD1, cD1, PRAD1 |
| MMRRC Submission |
038363-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.953)
|
| Stock # |
R0076 (G1)
|
| Quality Score |
60 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
144483668-144493568 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 144493402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 10
(V10G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093962]
|
| AlphaFold |
P25322 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093962
AA Change: V10G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000091495
Gene: ENSMUSG00000070348
AA Change: V10G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135985
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208193
|
| Meta Mutation Damage Score |
0.0900 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
100% (50/50) |
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
A |
G |
9: 104,201,417 (GRCm39) |
|
probably benign |
Het |
| Ankrd17 |
T |
A |
5: 90,392,265 (GRCm39) |
K1693* |
probably null |
Het |
| Car10 |
G |
A |
11: 93,381,423 (GRCm39) |
E129K |
possibly damaging |
Het |
| Cd19 |
T |
C |
7: 126,010,034 (GRCm39) |
D406G |
probably damaging |
Het |
| Cfap91 |
G |
A |
16: 38,123,046 (GRCm39) |
Q661* |
probably null |
Het |
| Col4a1 |
G |
A |
8: 11,268,713 (GRCm39) |
P1009L |
probably damaging |
Het |
| Col9a1 |
G |
A |
1: 24,276,578 (GRCm39) |
|
probably null |
Het |
| Crlf3 |
A |
T |
11: 79,947,427 (GRCm39) |
|
probably benign |
Het |
| Dock3 |
A |
C |
9: 106,788,685 (GRCm39) |
|
probably benign |
Het |
| Dus1l |
A |
T |
11: 120,683,634 (GRCm39) |
|
probably benign |
Het |
| Dvl2 |
G |
A |
11: 69,898,926 (GRCm39) |
E438K |
probably damaging |
Het |
| Eif3g |
A |
G |
9: 20,809,049 (GRCm39) |
F85S |
probably damaging |
Het |
| Fam234b |
A |
G |
6: 135,204,224 (GRCm39) |
M456V |
probably benign |
Het |
| Fbxo47 |
G |
A |
11: 97,748,481 (GRCm39) |
|
probably benign |
Het |
| Galntl5 |
A |
G |
5: 25,391,070 (GRCm39) |
|
probably null |
Het |
| Gm11437 |
T |
C |
11: 84,039,462 (GRCm39) |
T288A |
possibly damaging |
Het |
| Gm5546 |
T |
A |
3: 104,260,448 (GRCm39) |
|
noncoding transcript |
Het |
| Gmfb |
C |
A |
14: 47,054,912 (GRCm39) |
A11S |
probably benign |
Het |
| Hnrnpa3 |
G |
T |
2: 75,492,040 (GRCm39) |
R52L |
probably damaging |
Het |
| Ing3 |
T |
C |
6: 21,952,170 (GRCm39) |
M48T |
probably benign |
Het |
| Kmt2a |
A |
G |
9: 44,741,356 (GRCm39) |
|
probably benign |
Het |
| Megf8 |
G |
A |
7: 25,053,383 (GRCm39) |
|
probably null |
Het |
| Pex3 |
A |
G |
10: 13,411,338 (GRCm39) |
V180A |
probably benign |
Het |
| Pou6f1 |
G |
A |
15: 100,485,717 (GRCm39) |
Q106* |
probably null |
Het |
| Ror2 |
T |
C |
13: 53,267,110 (GRCm39) |
M442V |
probably benign |
Het |
| Rspo1 |
G |
A |
4: 124,885,190 (GRCm39) |
R22Q |
probably benign |
Het |
| Sec1 |
A |
G |
7: 45,328,315 (GRCm39) |
V244A |
probably damaging |
Het |
| Serac1 |
A |
G |
17: 6,115,212 (GRCm39) |
|
probably benign |
Het |
| Sgcz |
A |
G |
8: 38,012,596 (GRCm39) |
|
probably benign |
Het |
| Slc16a7 |
A |
T |
10: 125,063,939 (GRCm39) |
V466D |
probably benign |
Het |
| Tbl1xr1 |
T |
A |
3: 22,243,949 (GRCm39) |
D74E |
probably benign |
Het |
| Ube3b |
G |
T |
5: 114,546,278 (GRCm39) |
|
probably null |
Het |
| Ugt2b37 |
A |
G |
5: 87,402,080 (GRCm39) |
S184P |
probably benign |
Het |
|
| Other mutations in Ccnd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
|
R7841:Ccnd1
|
UTSW |
7 |
144,491,718 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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'- TGGTGATAGCAACAAGTTGCCAGG -3'
(R):5'- CAGTAACGTCACACGGACTACAGG -3'
Sequencing Primer
(F):5'- AGCAGCCTGTAAAGTCTCTTACC -3'
(R):5'- TTGAAGTTGCAAAGTCCTGC -3'
|
| Posted On |
2014-07-09 |
Incidental Mutation