Incidental Mutation 'R5603:Ccna1'
| ID |
439119 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ccna1
|
| Ensembl Gene |
ENSMUSG00000027793 |
| Gene Name |
cyclin A1 |
| Synonyms |
|
| MMRRC Submission |
043155-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.386)
|
| Stock # |
R5603 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
54952890-54962922 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 54958330 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 118
(Y118H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143275
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029368]
[ENSMUST00000197238]
[ENSMUST00000198102]
[ENSMUST00000198320]
[ENSMUST00000199144]
[ENSMUST00000199352]
|
| AlphaFold |
Q61456 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029368
AA Change: Y118H
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: Y118H
| 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 |
possibly damaging
Transcript: ENSMUST00000197238
AA Change: Y118H
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: Y118H
| 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: ENSMUST00000198102
|
| SMART Domains |
Protein: ENSMUSP00000142706
Gene: ENSMUSG00000027793
| 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 |
possibly damaging
Transcript: ENSMUST00000198320
AA Change: Y118H
PolyPhen 2
Score 0.602 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: Y118H
| 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: ENSMUST00000199144
AA Change: Y118H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199352
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000199770
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.5%
|
| 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. 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Baiap2l1 |
A |
G |
5: 144,202,787 (GRCm39) |
S509P |
probably damaging |
Het |
| Bud31 |
T |
C |
5: 145,081,769 (GRCm39) |
I52T |
possibly damaging |
Het |
| Cacna1g |
C |
T |
11: 94,330,578 (GRCm39) |
S979N |
possibly damaging |
Het |
| Cacna2d4 |
T |
A |
6: 119,221,246 (GRCm39) |
W253R |
probably damaging |
Het |
| Cct8l1 |
A |
G |
5: 25,721,497 (GRCm39) |
T71A |
probably benign |
Het |
| Chaf1b |
A |
G |
16: 93,689,683 (GRCm39) |
T19A |
probably damaging |
Het |
| Col6a2 |
A |
T |
10: 76,432,603 (GRCm39) |
V850D |
probably damaging |
Het |
| Cpsf2 |
C |
A |
12: 101,964,890 (GRCm39) |
Q513K |
probably benign |
Het |
| Dnah5 |
T |
G |
15: 28,420,078 (GRCm39) |
V3792G |
probably damaging |
Het |
| Dnajb12 |
GC |
G |
10: 59,728,574 (GRCm39) |
|
probably null |
Het |
| Exoc6b |
T |
C |
6: 84,812,126 (GRCm39) |
D625G |
possibly damaging |
Het |
| Gad1 |
C |
A |
2: 70,420,173 (GRCm39) |
F352L |
probably damaging |
Het |
| Gm5422 |
T |
A |
10: 31,126,840 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2b |
T |
C |
6: 135,900,395 (GRCm39) |
E162G |
probably damaging |
Het |
| Grm6 |
T |
A |
11: 50,747,786 (GRCm39) |
F333I |
probably damaging |
Het |
| Heatr5a |
A |
G |
12: 51,924,358 (GRCm39) |
F1952L |
probably benign |
Het |
| Ighv1-42 |
C |
T |
12: 114,901,132 (GRCm39) |
|
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,450,706 (GRCm39) |
T578A |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,221,420 (GRCm39) |
K291E |
probably benign |
Het |
| Mllt6 |
T |
C |
11: 97,564,331 (GRCm39) |
L379P |
probably damaging |
Het |
| Mtmr6 |
A |
T |
14: 60,522,450 (GRCm39) |
K183* |
probably null |
Het |
| Mylk |
A |
G |
16: 34,776,862 (GRCm39) |
N1345S |
probably benign |
Het |
| Nab2 |
A |
T |
10: 127,500,990 (GRCm39) |
M1K |
probably null |
Het |
| Ngly1 |
C |
A |
14: 16,260,762 (GRCm38) |
Q149K |
probably benign |
Het |
| Npy6r |
T |
A |
18: 44,409,652 (GRCm39) |
S358T |
probably damaging |
Het |
| Pbld2 |
A |
G |
10: 62,907,228 (GRCm39) |
T156A |
probably benign |
Het |
| Pik3cd |
A |
T |
4: 149,743,312 (GRCm39) |
C263S |
probably benign |
Het |
| Pramel21 |
T |
A |
4: 143,344,066 (GRCm39) |
C455* |
probably null |
Het |
| Ptk2b |
A |
T |
14: 66,409,514 (GRCm39) |
Y507* |
probably null |
Het |
| Rbm25 |
C |
T |
12: 83,710,990 (GRCm39) |
R368* |
probably null |
Het |
| Rnf207 |
T |
C |
4: 152,396,851 (GRCm39) |
Y396C |
probably damaging |
Het |
| Skint2 |
T |
A |
4: 112,506,961 (GRCm39) |
V328E |
possibly damaging |
Het |
| Slc3a2 |
A |
G |
19: 8,691,092 (GRCm39) |
V7A |
probably benign |
Het |
| Spata18 |
G |
A |
5: 73,828,575 (GRCm39) |
V265I |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,239,705 (GRCm39) |
V108D |
possibly damaging |
Het |
| Ugt1a2 |
T |
C |
1: 88,129,148 (GRCm39) |
Y264H |
probably damaging |
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 |
|
R1378:Ccna1
|
UTSW |
3 |
54,957,150 (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 |
|
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'- TCATTACAGGCTCATCACAGG -3'
(R):5'- TGCTGTACAGGAGGTGCAAC -3'
Sequencing Primer
(F):5'- TTACAGGCTCATCACAGGCACTC -3'
(R):5'- CACAGCAATCAGATGTTTTTCTGG -3'
|
| Posted On |
2016-10-26 |
Incidental Mutation