Mutagenetix > Incidental Mutation

Incidental Mutation 'R1102:Ccna1'

98151

Institutional Source

Beutler Lab

Gene Symbol

Ccna1

Ensembl Gene

ENSMUSG00000027793

Gene Name

cyclin A1

Synonyms

MMRRC Submission

039175-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.274) question?

Stock #

R1102 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

54952890-54962922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54958281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 134 (D134G)

Ref Sequence

ENSEMBL: ENSMUSP00000143275 (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: D134G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: D134G

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: D134G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: D134G

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

probably damaging
Transcript: ENSMUST00000198320
AA Change: D134G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: D134G

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: D134G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000199352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199770

Meta Mutation Damage Score

0.2728

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.3%
20x: 88.8%

Validation Efficiency

98% (60/61)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,211,460 (GRCm39)	T203M	probably damaging	Het
Acy3	C	T	19: 4,037,850 (GRCm39)	T119I	probably damaging	Het
Ccdc6	C	A	10: 70,023,636 (GRCm39)	H400Q	possibly damaging	Het
Cct2	A	T	10: 116,896,545 (GRCm39)		probably null	Het
Cd36	A	G	5: 18,019,211 (GRCm39)	F170S	possibly damaging	Het
Cep350	G	A	1: 155,807,264 (GRCm39)	P718S	probably damaging	Het
Cimip1	T	A	2: 173,364,516 (GRCm39)	D20E	probably damaging	Het
Ctnna3	A	T	10: 64,421,774 (GRCm39)	I523L	probably benign	Het
Dnah1	G	T	14: 31,018,414 (GRCm39)	Y1405*	probably null	Het
Dnah8	T	A	17: 31,073,738 (GRCm39)		probably null	Het
Drd3	T	C	16: 43,582,846 (GRCm39)	L113S	probably damaging	Het
Emsy	T	C	7: 98,251,796 (GRCm39)	T735A	probably damaging	Het
Epha5	A	G	5: 84,381,434 (GRCm39)		probably benign	Het
Ezhip	GTCATCATCATCATC	GTCATCATCATCATCATC	X: 5,994,645 (GRCm39)		probably benign	Het
Fbxo10	A	G	4: 45,043,672 (GRCm39)	L717P	probably damaging	Het
Galnt10	T	C	11: 57,671,871 (GRCm39)		probably benign	Het
Gle1	T	G	2: 29,834,066 (GRCm39)	I437M	possibly damaging	Het
Gpr137b	T	C	13: 13,539,616 (GRCm39)		probably benign	Het
Gsta1	T	C	9: 78,149,777 (GRCm39)	F197L	probably damaging	Het
Icam1	G	A	9: 20,939,132 (GRCm39)	V502M	possibly damaging	Het
Ido1	T	A	8: 25,083,156 (GRCm39)	I90F	probably damaging	Het
Il4ra	G	A	7: 125,173,889 (GRCm39)		probably null	Het
Med12l	T	A	3: 59,152,257 (GRCm39)	M1014K	probably damaging	Het
Mmp13	A	G	9: 7,272,952 (GRCm39)	E104G	possibly damaging	Het
Mms19	T	C	19: 41,939,284 (GRCm39)	E495G	possibly damaging	Het
Mrc2	A	G	11: 105,231,647 (GRCm39)	I820V	probably benign	Het
Naip6	T	C	13: 100,440,923 (GRCm39)	K286E	possibly damaging	Het
Ndrg1	T	C	15: 66,816,685 (GRCm39)	Y110C	probably damaging	Het
Or1e1c	G	A	11: 73,265,700 (GRCm39)	V45I	probably benign	Het
Or4a78	A	T	2: 89,497,814 (GRCm39)	C139S	probably damaging	Het
Or5b118	T	C	19: 13,448,771 (GRCm39)	C146R	probably damaging	Het
Or5b3	G	A	19: 13,388,454 (GRCm39)	V174M	probably damaging	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Pdzd4	G	A	X: 72,839,052 (GRCm39)	R419C	probably damaging	Het
Pnpla7	G	T	2: 24,886,177 (GRCm39)	M3I	probably damaging	Het
Popdc3	A	G	10: 45,192,642 (GRCm39)		probably benign	Het
Ppp5c	A	G	7: 16,756,368 (GRCm39)	F112S	probably benign	Het
Rbp3	A	G	14: 33,678,313 (GRCm39)	T754A	possibly damaging	Het
Reep6	A	G	10: 80,171,080 (GRCm39)	T319A	probably benign	Het
Rfx3	A	G	19: 27,845,000 (GRCm39)	V43A	possibly damaging	Het
Rint1	A	G	5: 24,010,565 (GRCm39)		probably benign	Het
Sacm1l	T	G	9: 123,411,363 (GRCm39)	V384G	probably damaging	Het
Shox2	A	T	3: 66,885,628 (GRCm39)	L149Q	probably damaging	Het
Sipa1	T	C	19: 5,702,782 (GRCm39)	H805R	probably benign	Het
Skic2	T	C	17: 35,059,082 (GRCm39)	D1095G	probably benign	Het
Slc5a3	G	T	16: 91,874,765 (GRCm39)	W274L	probably damaging	Het
Spata31e4	A	G	13: 50,857,118 (GRCm39)	T919A	probably benign	Het
Sptbn1	G	T	11: 30,070,785 (GRCm39)	H1524Q	possibly damaging	Het
Ssr1	G	T	13: 38,171,591 (GRCm39)	Q149K	probably benign	Het
Taf7l2	T	C	10: 115,949,299 (GRCm39)	S76G	probably damaging	Het
Thsd7a	T	C	6: 12,555,701 (GRCm39)	D61G	possibly damaging	Het
Tmem245	T	C	4: 56,903,200 (GRCm39)		probably benign	Het
Tmem74	T	C	15: 43,730,186 (GRCm39)	T286A	probably benign	Het
Tnc	T	C	4: 63,938,705 (GRCm39)	N45D	probably benign	Het
Trdmt1	T	G	2: 13,528,225 (GRCm39)		probably benign	Het
Uty	A	T	Y: 1,174,741 (GRCm39)	Y220N	probably damaging	Het
Vdr	T	C	15: 97,757,002 (GRCm39)	Y290C	probably damaging	Het
Vmn2r19	T	A	6: 123,313,132 (GRCm39)	M734K	probably benign	Het
Vmn2r53	T	C	7: 12,332,410 (GRCm39)	D413G	possibly damaging	Het
Vps45	A	G	3: 95,950,253 (GRCm39)		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
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'- AATCCGTTGCTTCCTCTGACTGGG -3'
(R):5'- TGGGGTCAATGAACCAGCCAAAC -3'

Sequencing Primer
(F):5'- TGGGGTCAACCAGCATTG -3'
(R):5'- AACCAGCCAAACGTGGG -3'

Posted On

2014-01-05