Mutagenetix > Incidental Mutation

Incidental Mutation 'R7034:Ccna1'

546506

Institutional Source

Beutler Lab

Gene Symbol

Ccna1

Ensembl Gene

ENSMUSG00000027793

Gene Name

cyclin A1

Synonyms

MMRRC Submission

045135-MU

Accession Numbers

Essential gene?

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

Stock #

R7034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54952890-54962922 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54953460 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 381 (E381G)

Ref Sequence

ENSEMBL: ENSMUSP00000143447 (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: E381G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: E381G

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: E381G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: E381G

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: E381G

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: E381G

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	T	A	10: 100,445,118 (GRCm39)		probably null	Het
Adamts1	T	A	16: 85,599,634 (GRCm39)		probably benign	Het
Aff4	A	G	11: 53,299,236 (GRCm39)	K979E	probably damaging	Het
Aftph	A	T	11: 20,642,498 (GRCm39)	M845K	probably damaging	Het
Akt2	T	C	7: 27,336,437 (GRCm39)		probably null	Het
Aldh1a7	A	T	19: 20,685,542 (GRCm39)	L336Q	possibly damaging	Het
Ank3	C	T	10: 69,835,209 (GRCm39)	T680M	probably damaging	Het
Apeh	T	C	9: 107,971,470 (GRCm39)	E59G	possibly damaging	Het
Armc8	C	T	9: 99,366,018 (GRCm39)		probably null	Het
Armh3	A	G	19: 45,953,688 (GRCm39)	I195T	probably damaging	Het
Atp2b1	C	T	10: 98,823,172 (GRCm39)	T244I	probably damaging	Het
Btaf1	C	A	19: 36,981,869 (GRCm39)	T1633K	probably benign	Het
Cacng8	A	G	7: 3,463,819 (GRCm39)	S324G	probably benign	Het
Calcr	T	A	6: 3,692,543 (GRCm39)	Q400L	probably damaging	Het
Caprin2	G	A	6: 148,749,703 (GRCm39)	P536S	possibly damaging	Het
Ccdc54	A	T	16: 50,410,951 (GRCm39)	M105K	probably benign	Het
Cd2ap	A	T	17: 43,109,490 (GRCm39)	L623Q	probably damaging	Het
Cdkl3	A	G	11: 51,918,042 (GRCm39)	E415G	probably benign	Het
Chd5	C	A	4: 152,445,398 (GRCm39)	L430I	possibly damaging	Het
Clspn	G	A	4: 126,474,775 (GRCm39)	E975K	possibly damaging	Het
Cobl	C	A	11: 12,204,177 (GRCm39)	V835F	probably damaging	Het
D430041D05Rik	C	A	2: 104,022,883 (GRCm39)	R1037L	probably damaging	Het
Derl1	A	G	15: 57,742,443 (GRCm39)		probably null	Het
Dhrs9	T	G	2: 69,223,520 (GRCm39)	N89K	probably benign	Het
Erich1	A	G	8: 14,114,330 (GRCm39)	I60T	probably benign	Het
Fam184a	A	T	10: 53,570,910 (GRCm39)	S408T	possibly damaging	Het
Fcgr4	T	A	1: 170,847,657 (GRCm39)	M85K	probably benign	Het
Foxj3	A	G	4: 119,476,497 (GRCm39)	E259G	probably damaging	Het
Galnt11	T	C	5: 25,463,811 (GRCm39)	I361T	probably damaging	Het
Gck	A	G	11: 5,851,747 (GRCm39)	S441P	probably damaging	Het
Gdap1l1	G	T	2: 163,288,065 (GRCm39)	V98F	probably damaging	Het
Gramd1a	A	G	7: 30,832,181 (GRCm39)		probably null	Het
H2ac21	C	T	3: 96,127,304 (GRCm39)	Q25*	probably null	Het
Herc3	A	T	6: 58,853,840 (GRCm39)	M629L	probably benign	Het
Hoxc12	G	A	15: 102,846,795 (GRCm39)	G229D	probably damaging	Het
Hycc2	T	A	1: 58,574,696 (GRCm39)	M282L	probably benign	Het
Itga9	T	C	9: 118,527,433 (GRCm39)	L528P	probably benign	Het
Krt39	A	C	11: 99,412,062 (GRCm39)	V8G	probably benign	Het
Krt71	A	G	15: 101,646,772 (GRCm39)	I312T	probably benign	Het
Lrrc37	T	A	11: 103,506,638 (GRCm39)		probably benign	Het
Mllt11	A	G	3: 95,127,744 (GRCm39)	Y9H	probably damaging	Het
Mrgpra3	G	T	7: 47,239,838 (GRCm39)	N29K	possibly damaging	Het
Mug1	A	G	6: 121,850,603 (GRCm39)	T700A	probably benign	Het
Myl1	T	C	1: 66,969,395 (GRCm39)	N79S	probably damaging	Het
Myo18b	G	A	5: 112,871,770 (GRCm39)	Q2104*	probably null	Het
Nalf1	G	A	8: 9,820,589 (GRCm39)	P144S	possibly damaging	Het
Ndufs2	T	C	1: 171,065,877 (GRCm39)	D256G	probably benign	Het
Nek5	T	C	8: 22,597,739 (GRCm39)	N280S	probably benign	Het
Nwd2	A	T	5: 63,962,258 (GRCm39)	N614I	probably damaging	Het
Or6c88	G	A	10: 129,406,941 (GRCm39)	C139Y	possibly damaging	Het
Parp1	G	T	1: 180,425,817 (GRCm39)	K849N	possibly damaging	Het
Pcnx2	T	C	8: 126,512,041 (GRCm39)	T1422A	probably damaging	Het
Plce1	A	G	19: 38,727,801 (GRCm39)	N1520S	probably damaging	Het
Ppcdc	T	C	9: 57,322,453 (GRCm39)	T149A	probably damaging	Het
Ppl	A	G	16: 4,905,366 (GRCm39)	V1643A	probably benign	Het
Pramel23	A	T	4: 143,423,898 (GRCm39)	I297N	probably damaging	Het
Prrx1	T	A	1: 163,075,907 (GRCm39)	M220L	probably benign	Het
Pspc1	A	C	14: 56,996,085 (GRCm39)		probably null	Het
Ptpn20	A	G	14: 33,336,392 (GRCm39)	*44W	probably null	Het
Qars1	T	A	9: 108,391,976 (GRCm39)	V83E	probably damaging	Het
Rbm33	T	C	5: 28,599,496 (GRCm39)	M956T	unknown	Het
Sash1	C	A	10: 8,605,847 (GRCm39)	E848*	probably null	Het
Scai	T	A	2: 39,011,147 (GRCm39)	Y163F	probably damaging	Het
Serpinf2	A	T	11: 75,329,244 (GRCm39)		probably benign	Het
Sgo2b	T	A	8: 64,379,868 (GRCm39)	H988L	probably benign	Het
Sh2b2	G	A	5: 136,247,739 (GRCm39)	T604I	probably benign	Het
Skint4	A	T	4: 112,015,281 (GRCm39)	I449F	possibly damaging	Het
Slc30a2	A	G	4: 134,074,653 (GRCm39)	I88V	possibly damaging	Het
Smug1	A	G	15: 103,064,369 (GRCm39)	L184P	probably damaging	Het
Spatc1	A	G	15: 76,168,080 (GRCm39)	T180A	probably benign	Het
Ssr1	A	T	13: 38,178,001 (GRCm39)	L20Q	probably null	Het
Supt4a	A	G	11: 87,634,084 (GRCm39)	E100G	probably damaging	Het
Teddm2	T	C	1: 153,726,320 (GRCm39)	I132V	probably benign	Het
Tmem131	C	T	1: 36,832,054 (GRCm39)	G1861E	possibly damaging	Het
Tpr	A	T	1: 150,299,358 (GRCm39)	H1186L	probably benign	Het
Trim34b	A	T	7: 103,978,743 (GRCm39)		probably benign	Het
Trpm2	T	C	10: 77,748,426 (GRCm39)	M1415V	probably benign	Het
Ttll12	A	G	15: 83,471,086 (GRCm39)	F264S	probably benign	Het
Vmn2r59	T	C	7: 41,695,644 (GRCm39)	E256G	probably benign	Het
Vmn2r93	A	T	17: 18,546,672 (GRCm39)	H848L	probably benign	Het
Vps35l	T	C	7: 118,372,315 (GRCm39)	S290P	probably damaging	Het
Wdfy3	G	A	5: 102,055,384 (GRCm39)	T1562I	probably damaging	Het
Ybey	T	C	10: 76,304,197 (GRCm39)	S2G	possibly damaging	Het
Zfp346	A	T	13: 55,280,200 (GRCm39)	Q308L	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
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
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'- CACTGTGAACCTAGCTAGATCTTTC -3'
(R):5'- ATGGGTATACTCGCTCACCAAG -3'

Sequencing Primer
(F):5'- CTTGATTAGCGAGCAACCTTG -3'
(R):5'- GCTCACCAAGAACTAAATTCCCTTC -3'

Posted On

2019-05-13