Mutagenetix > Incidental Mutation

Incidental Mutation 'R0195:Ccna1'

23347

Institutional Source

Beutler Lab

Gene Symbol

Ccna1

Ensembl Gene

ENSMUSG00000027793

Gene Name

cyclin A1

Synonyms

MMRRC Submission

038454-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.386) question?

Stock #

R0195 (G1)

Quality Score

224

Status

Validated

Chromosome

Chromosomal Location

54952890-54962922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 54961785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 45 (E45V)

Ref Sequence

ENSEMBL: ENSMUSP00000143555 (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: E45V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: E45V

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

noncoding transcript
Transcript: ENSMUST00000196588

Predicted Effect

possibly damaging
Transcript: ENSMUST00000197238
AA Change: E45V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: E45V

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: E45V

PolyPhen 2 Score 0.864 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: E45V

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: E45V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000199352
AA Change: E45V

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199770

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.6%
20x: 89.4%

Validation Efficiency

98% (156/160)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acly	C	G	11: 100,403,800 (GRCm39)	R362P	possibly damaging	Het
Adam24	T	A	8: 41,134,805 (GRCm39)	W758R	probably benign	Het
Adam26b	G	T	8: 43,973,307 (GRCm39)	T565K	probably damaging	Het
Adam7	T	G	14: 68,765,076 (GRCm39)		probably benign	Het
Adamts19	A	G	18: 59,102,942 (GRCm39)		probably benign	Het
Add1	A	G	5: 34,767,990 (GRCm39)		probably benign	Het
Ago1	A	G	4: 126,357,484 (GRCm39)	C64R	probably benign	Het
Ankrd12	C	T	17: 66,356,943 (GRCm39)		probably null	Het
Arhgef33	A	G	17: 80,688,863 (GRCm39)	K820E	probably damaging	Het
Arl9	T	C	5: 77,154,341 (GRCm39)	V8A	probably damaging	Het
Aspm	T	C	1: 139,406,873 (GRCm39)	L1920P	probably damaging	Het
Atad2	A	G	15: 57,963,350 (GRCm39)		probably benign	Het
Atp2b2	A	T	6: 113,770,835 (GRCm39)	V358E	probably benign	Het
C3ar1	A	C	6: 122,828,114 (GRCm39)	C34W	possibly damaging	Het
C6	G	A	15: 4,792,953 (GRCm39)	V353M	probably benign	Het
Capn7	T	C	14: 31,087,538 (GRCm39)	I593T	probably damaging	Het
Casc3	T	A	11: 98,712,319 (GRCm39)	D119E	probably damaging	Het
Cdc37	A	G	9: 21,053,576 (GRCm39)	V180A	probably benign	Het
Cdh23	A	G	10: 60,152,838 (GRCm39)	I2393T	probably damaging	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Cngb3	A	T	4: 19,280,975 (GRCm39)	M15L	probably benign	Het
Crygn	A	G	5: 24,961,036 (GRCm39)	M90T	possibly damaging	Het
Cse1l	T	A	2: 166,782,008 (GRCm39)	S661R	probably benign	Het
D830013O20Rik	C	T	12: 73,411,095 (GRCm39)		noncoding transcript	Het
Ddx24	C	T	12: 103,385,220 (GRCm39)		probably null	Het
Dnah3	A	T	7: 119,676,998 (GRCm39)		probably null	Het
Dnah9	C	T	11: 65,786,731 (GRCm39)	G3634E	probably benign	Het
Dnttip2	A	T	3: 122,069,810 (GRCm39)	T342S	probably benign	Het
Evx2	G	T	2: 74,489,388 (GRCm39)	R125S	probably damaging	Het
Fbxl5	A	T	5: 43,928,140 (GRCm39)	L40Q	probably damaging	Het
Git1	T	A	11: 77,391,899 (GRCm39)	D240E	probably benign	Het
Glp2r	T	A	11: 67,600,534 (GRCm39)	K438N	probably damaging	Het
Hivep1	T	A	13: 42,309,629 (GRCm39)	I623N	probably benign	Het
Il17re	A	G	6: 113,443,098 (GRCm39)	E312G	probably damaging	Het
Itgb7	G	A	15: 102,130,618 (GRCm39)		probably benign	Het
Itpr3	A	G	17: 27,333,088 (GRCm39)	Y1900C	probably damaging	Het
Krt1c	G	A	15: 101,721,626 (GRCm39)	Q472*	probably null	Het
Krtap5-1	A	C	7: 141,850,434 (GRCm39)	C125G	unknown	Het
Macf1	A	G	4: 123,328,709 (GRCm39)	S2554P	probably damaging	Het
Marchf10	C	T	11: 105,276,351 (GRCm39)	G646R	probably damaging	Het
Mrpl48	A	C	7: 100,195,560 (GRCm39)		probably benign	Het
Myo16	A	T	8: 10,365,538 (GRCm39)		probably benign	Het
Nrcam	A	T	12: 44,631,628 (GRCm39)	E1060D	probably benign	Het
Nsd3	T	A	8: 26,170,709 (GRCm39)	C731S	probably damaging	Het
Nup85	T	G	11: 115,455,357 (GRCm39)	M1R	probably null	Het
Nxnl2	G	T	13: 51,325,483 (GRCm39)	R42L	probably damaging	Het
Oas3	G	A	5: 120,894,210 (GRCm39)	R39C	probably damaging	Het
Or13c25	G	A	4: 52,910,849 (GRCm39)	T315M	probably benign	Het
Orc1	C	T	4: 108,471,505 (GRCm39)	R786*	probably null	Het
P2ry6	A	T	7: 100,587,904 (GRCm39)	W152R	probably damaging	Het
Pex5l	T	C	3: 33,047,102 (GRCm39)	N283D	possibly damaging	Het
Pgk2	T	C	17: 40,518,622 (GRCm39)	I269V	probably benign	Het
Phgdh	T	G	3: 98,223,866 (GRCm39)		probably benign	Het
Pzp	A	T	6: 128,464,441 (GRCm39)	L1362Q	probably damaging	Het
Rbbp9	T	C	2: 144,390,026 (GRCm39)		probably benign	Het
Rffl	A	G	11: 82,700,989 (GRCm39)	L244P	probably damaging	Het
Serpina11	T	C	12: 103,952,131 (GRCm39)	Y213C	probably damaging	Het
Spopfm1	A	G	3: 94,173,229 (GRCm39)	Y79C	possibly damaging	Het
Srsf11	A	G	3: 157,742,172 (GRCm39)		probably benign	Het
Sspo	T	A	6: 48,463,570 (GRCm39)	V3785E	probably benign	Het
Svep1	A	T	4: 58,089,514 (GRCm39)	S1632T	possibly damaging	Het
Tm4sf1	T	A	3: 57,200,480 (GRCm39)	D74V	probably damaging	Het
Tmprss15	T	A	16: 78,831,222 (GRCm39)	T393S	probably benign	Het
Tnfaip3	A	G	10: 18,881,461 (GRCm39)	L275P	probably damaging	Het
Trim30c	A	G	7: 104,031,636 (GRCm39)	V393A	probably benign	Het
Tssk2	T	A	16: 17,717,439 (GRCm39)	S281T	probably benign	Het
Tubb4a	A	G	17: 57,388,499 (GRCm39)	S176P	probably damaging	Het
Unc45b	T	A	11: 82,828,654 (GRCm39)	M785K	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn1r176	G	T	7: 23,535,010 (GRCm39)	Q48K	probably benign	Het
Vmn2r110	A	T	17: 20,794,317 (GRCm39)	L784Q	probably benign	Het
Vps13b	A	G	15: 35,472,045 (GRCm39)	T783A	probably benign	Het
Zfp800	A	G	6: 28,243,846 (GRCm39)	M373T	probably damaging	Het
Zmym1	A	G	4: 126,941,704 (GRCm39)	F895L	possibly 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
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
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'- ACTGAACATCTTTCTGGCGGCTC -3'
(R):5'- TTTCCTGGATAGCAGCAGGCTGTG -3'

Sequencing Primer
(F):5'- tgcacacagatgcacacTATC -3'
(R):5'- TGGCTTACTAGGCAATGCATC -3'

Posted On

2013-04-16