Incidental Mutation 'R1378:Ccna1'
| ID |
162931 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccna1
|
| Ensembl Gene |
ENSMUSG00000027793 |
| Gene Name |
cyclin A1 |
| Synonyms |
|
| MMRRC Submission |
039442-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.274)
|
| Stock # |
R1378 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
54952890-54962922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54957150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 237
(V237A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029368]
[ENSMUST00000197238]
[ENSMUST00000198102]
[ENSMUST00000198320]
[ENSMUST00000199144]
[ENSMUST00000199352]
|
| AlphaFold |
Q61456 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029368
AA Change: V237A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: V237A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
205 |
289 |
1.5e-32 |
SMART |
|
Cyclin_C
|
298 |
415 |
2.8e-39 |
SMART |
|
CYCLIN
|
302 |
384 |
1.5e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000197238
AA Change: V237A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: V237A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
205 |
289 |
1.5e-32 |
SMART |
|
Cyclin_C
|
298 |
415 |
2.7e-39 |
SMART |
|
CYCLIN
|
302 |
384 |
1.5e-22 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198102
AA Change: V89A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793
AA Change: V89A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
57 |
141 |
1.5e-32 |
SMART |
|
Cyclin_C
|
150 |
250 |
3.6e-10 |
SMART |
|
CYCLIN
|
154 |
238 |
2.2e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000198320
AA Change: V237A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: V237A
| Domain | Start | End | E-Value | Type |
|---|
|
CYCLIN
|
205 |
289 |
1.5e-32 |
SMART |
|
Cyclin_C
|
298 |
415 |
2.7e-39 |
SMART |
|
CYCLIN
|
302 |
384 |
1.5e-22 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199144
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199352
|
| Meta Mutation Damage Score |
0.4774 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.3%
- 20x: 89.3%
|
| Validation Efficiency |
100% (57/57) |
| 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. The cyclin encoded by this gene was shown to be expressed in testis and brain, as well as in several leukemic cell lines, and is thought to primarily function in the control of the germline meiotic cell cycle. This cyclin binds both CDK2 and CDC2 kinases, which give two distinct kinase activities, one appearing in S phase, the other in G2, and thus regulate separate functions in cell cycle. This cyclin was found to bind to important cell cycle regulators, such as Rb family proteins, transcription factor E2F-1, and the p21 family proteins. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null males are infertile due to the arrest of spermatogenesis prior to the first meiotic division. Female mutant mice are fertile. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,126,030 (GRCm39) |
T342A |
probably damaging |
Het |
| Alg1 |
A |
G |
16: 5,061,580 (GRCm39) |
N406D |
probably damaging |
Het |
| Atp13a4 |
A |
T |
16: 29,239,246 (GRCm39) |
M825K |
probably damaging |
Het |
| Birc6 |
T |
A |
17: 74,967,450 (GRCm39) |
I4117K |
probably damaging |
Het |
| Brinp2 |
A |
T |
1: 158,074,624 (GRCm39) |
L499Q |
possibly damaging |
Het |
| Brwd1 |
A |
T |
16: 95,842,570 (GRCm39) |
V789D |
probably benign |
Het |
| Ccdc153 |
C |
G |
9: 44,154,958 (GRCm39) |
L94V |
probably null |
Het |
| Cct7 |
T |
A |
6: 85,444,545 (GRCm39) |
|
probably null |
Het |
| Cenpb |
C |
T |
2: 131,020,230 (GRCm39) |
|
probably benign |
Het |
| Chrne |
T |
A |
11: 70,505,956 (GRCm39) |
|
probably null |
Het |
| Clstn3 |
T |
A |
6: 124,415,378 (GRCm39) |
D662V |
probably damaging |
Het |
| Clu |
G |
T |
14: 66,212,350 (GRCm39) |
C189F |
probably damaging |
Het |
| Cstdc5 |
A |
G |
16: 36,179,929 (GRCm39) |
C63R |
probably benign |
Het |
| Cul7 |
C |
T |
17: 46,973,052 (GRCm39) |
R1388C |
probably damaging |
Het |
| Dgka |
T |
C |
10: 128,571,696 (GRCm39) |
|
probably null |
Het |
| Dop1b |
A |
G |
16: 93,567,280 (GRCm39) |
T1236A |
probably benign |
Het |
| Edn2 |
A |
G |
4: 120,019,095 (GRCm39) |
E28G |
probably benign |
Het |
| Elp3 |
T |
C |
14: 65,830,380 (GRCm39) |
I24V |
probably benign |
Het |
| Faap24 |
T |
C |
7: 35,092,326 (GRCm39) |
E197G |
probably benign |
Het |
| Fam13a |
T |
A |
6: 58,933,736 (GRCm39) |
M285L |
probably benign |
Het |
| Gm9944 |
T |
A |
4: 144,179,773 (GRCm39) |
|
probably benign |
Het |
| Gsdmc3 |
T |
C |
15: 63,731,435 (GRCm39) |
|
probably benign |
Het |
| Gvin3 |
T |
A |
7: 106,201,373 (GRCm39) |
I624F |
probably damaging |
Het |
| Ift22 |
A |
C |
5: 136,941,757 (GRCm39) |
K133T |
probably benign |
Het |
| Il23r |
T |
A |
6: 67,429,394 (GRCm39) |
K316I |
possibly damaging |
Het |
| Klra17 |
T |
A |
6: 129,842,647 (GRCm39) |
E217V |
probably damaging |
Het |
| Nell2 |
A |
T |
15: 95,130,402 (GRCm39) |
V657E |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,098,111 (GRCm39) |
K850N |
probably benign |
Het |
| Nsmce4a |
C |
T |
7: 130,139,900 (GRCm39) |
R276Q |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,962 (GRCm39) |
L203P |
probably damaging |
Het |
| Or4p8 |
T |
A |
2: 88,727,370 (GRCm39) |
R190S |
probably benign |
Het |
| Or52s1b |
T |
C |
7: 102,822,475 (GRCm39) |
D123G |
probably damaging |
Het |
| Or52z14 |
A |
T |
7: 103,253,145 (GRCm39) |
R95* |
probably null |
Het |
| Pclo |
T |
C |
5: 14,732,327 (GRCm39) |
S3610P |
probably benign |
Het |
| Pon3 |
T |
G |
6: 5,230,813 (GRCm39) |
D238A |
probably benign |
Het |
| Ppp4r4 |
T |
C |
12: 103,547,751 (GRCm39) |
|
probably benign |
Het |
| Rad18 |
T |
C |
6: 112,658,297 (GRCm39) |
|
probably benign |
Het |
| Ralgapa1 |
T |
C |
12: 55,723,711 (GRCm39) |
Y1652C |
probably damaging |
Het |
| Rem1 |
G |
A |
2: 152,476,455 (GRCm39) |
V238M |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,799,871 (GRCm39) |
|
probably null |
Het |
| Soat1 |
A |
G |
1: 156,294,352 (GRCm39) |
|
probably benign |
Het |
| Tex15 |
A |
T |
8: 34,065,244 (GRCm39) |
N1558I |
probably damaging |
Het |
| Tmem132d |
A |
T |
5: 128,346,011 (GRCm39) |
F170L |
probably benign |
Het |
| Tro |
G |
T |
X: 149,438,567 (GRCm39) |
P30Q |
probably damaging |
Het |
| Tubg2 |
G |
T |
11: 101,047,699 (GRCm39) |
E95* |
probably null |
Het |
| Unc45b |
G |
A |
11: 82,827,678 (GRCm39) |
S725N |
probably benign |
Het |
| Vmn2r7 |
A |
G |
3: 64,599,025 (GRCm39) |
S511P |
possibly damaging |
Het |
| Vps35l |
G |
T |
7: 118,393,795 (GRCm39) |
E515* |
probably null |
Het |
| Vps35l |
A |
T |
7: 118,393,796 (GRCm39) |
E515V |
probably damaging |
Het |
| Zfp174 |
G |
A |
16: 3,667,353 (GRCm39) |
E181K |
probably benign |
Het |
|
| Other mutations in Ccna1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Ccna1
|
APN |
3 |
54,958,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00341:Ccna1
|
APN |
3 |
54,958,076 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02484:Ccna1
|
APN |
3 |
54,955,915 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL02649:Ccna1
|
APN |
3 |
54,961,807 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03310:Ccna1
|
APN |
3 |
54,958,041 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03382:Ccna1
|
APN |
3 |
54,954,698 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0127:Ccna1
|
UTSW |
3 |
54,957,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0195:Ccna1
|
UTSW |
3 |
54,961,785 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0219:Ccna1
|
UTSW |
3 |
54,958,348 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0255:Ccna1
|
UTSW |
3 |
54,958,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0492:Ccna1
|
UTSW |
3 |
54,956,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1102:Ccna1
|
UTSW |
3 |
54,958,281 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Ccna1
|
UTSW |
3 |
54,958,353 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3799:Ccna1
|
UTSW |
3 |
54,958,040 (GRCm39) |
missense |
probably benign |
0.24 |
|
R4199:Ccna1
|
UTSW |
3 |
54,954,736 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4992:Ccna1
|
UTSW |
3 |
54,957,311 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5465:Ccna1
|
UTSW |
3 |
54,953,065 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5560:Ccna1
|
UTSW |
3 |
54,955,990 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5603:Ccna1
|
UTSW |
3 |
54,958,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6764:Ccna1
|
UTSW |
3 |
54,953,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Ccna1
|
UTSW |
3 |
54,953,460 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R7144:Ccna1
|
UTSW |
3 |
54,953,120 (GRCm39) |
missense |
probably benign |
|
|
R7944:Ccna1
|
UTSW |
3 |
54,958,010 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R8088:Ccna1
|
UTSW |
3 |
54,958,492 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8680:Ccna1
|
UTSW |
3 |
54,955,878 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8797:Ccna1
|
UTSW |
3 |
54,953,069 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCAGCCAAGAGACTACAGGGCAG -3'
(R):5'- TACATGAGGAAGCAGCCGGACATC -3'
Sequencing Primer
(F):5'- GCAGAGCAGAGTTCCATCTTG -3'
(R):5'- AGCCGGACATCACGGAG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation