Mutagenetix > Incidental Mutation

Incidental Mutation 'R0219:Ccna1'

33708

Institutional Source

Beutler Lab

Gene Symbol

Ccna1

Ensembl Gene

ENSMUSG00000027793

Gene Name

cyclin A1

Synonyms

MMRRC Submission

038468-MU

Accession Numbers

Essential gene?

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

Stock #

R0219 (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 54958348 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 112 (I112V)

Ref Sequence

ENSEMBL: ENSMUSP00000143275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029368] [ENSMUST00000197238] [ENSMUST00000198102] [ENSMUST00000198320] [ENSMUST00000199144] [ENSMUST00000199352]

AlphaFold

Q61456

Predicted Effect

probably benign
Transcript: ENSMUST00000029368
AA Change: I112V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000029368
Gene: ENSMUSG00000027793
AA Change: I112V

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 benign
Transcript: ENSMUST00000197238
AA Change: I112V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000142692
Gene: ENSMUSG00000027793
AA Change: I112V

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 benign
Transcript: ENSMUST00000198320
AA Change: I112V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000143447
Gene: ENSMUSG00000027793
AA Change: I112V

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
AA Change: I112V

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Predicted Effect

probably benign
Transcript: ENSMUST00000199352

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199770

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.3%

Validation Efficiency

98% (65/66)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb5	A	T	12: 118,849,885 (GRCm39)		probably benign	Het
Acacb	T	A	5: 114,371,005 (GRCm39)	M1749K	possibly damaging	Het
Aff1	GCTCTCTCTC	GCTCTCTCTCTC	5: 103,958,906 (GRCm39)		probably benign	Het
Ankle2	C	T	5: 110,399,511 (GRCm39)	R624*	probably null	Het
Bcl2	G	A	1: 106,640,292 (GRCm39)	R107C	probably damaging	Het
Brca2	A	G	5: 150,446,640 (GRCm39)		probably benign	Het
Ccdc116	T	A	16: 16,959,476 (GRCm39)	R404S	possibly damaging	Het
Ccdc171	A	G	4: 83,614,678 (GRCm39)		probably benign	Het
Ccdc80	A	G	16: 44,916,846 (GRCm39)	K534R	probably damaging	Het
Cdhr1	A	C	14: 36,801,558 (GRCm39)	L795R	possibly damaging	Het
Cilp	C	A	9: 65,176,872 (GRCm39)	L43I	possibly damaging	Het
Dclk2	T	C	3: 86,720,976 (GRCm39)		probably benign	Het
Ddx59	C	A	1: 136,360,047 (GRCm39)		probably benign	Het
Dgkd	T	C	1: 87,865,996 (GRCm39)		probably benign	Het
Dicer1	A	G	12: 104,658,384 (GRCm39)		probably null	Het
Dst	T	G	1: 34,342,559 (GRCm39)	S5030A	probably damaging	Het
Dysf	G	A	6: 84,106,443 (GRCm39)		probably benign	Het
Farp1	C	A	14: 121,481,012 (GRCm39)	P471Q	possibly damaging	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Fcer1g	A	G	1: 171,058,795 (GRCm39)	V31A	possibly damaging	Het
Glb1l2	A	G	9: 26,717,618 (GRCm39)	V21A	probably benign	Het
Gm9912	T	C	3: 148,891,131 (GRCm39)	I1V	unknown	Het
Guf1	G	A	5: 69,716,929 (GRCm39)	A164T	probably damaging	Het
Hbb-bs	T	C	7: 103,475,876 (GRCm39)	H147R	possibly damaging	Het
Hnrnpr	T	A	4: 136,066,474 (GRCm39)		probably benign	Het
Iglon5	A	T	7: 43,126,261 (GRCm39)	V214E	probably damaging	Het
Isx	C	A	8: 75,616,589 (GRCm39)		probably null	Het
Kank4	T	C	4: 98,666,702 (GRCm39)	N582D	probably benign	Het
Kcp	T	A	6: 29,495,784 (GRCm39)	R773W	probably damaging	Het
Kdm4c	T	C	4: 74,291,857 (GRCm39)	C825R	probably damaging	Het
Krt25	G	A	11: 99,208,885 (GRCm39)	T315M	probably benign	Het
Lrp5	A	T	19: 3,647,349 (GRCm39)	S1298T	probably damaging	Het
Map3k10	T	C	7: 27,356,156 (GRCm39)	D921G	probably damaging	Het
Mrgprx1	C	A	7: 47,671,294 (GRCm39)	W151L	probably damaging	Het
Mylk3	T	A	8: 86,081,873 (GRCm39)	D375V	probably damaging	Het
Nav3	C	T	10: 109,702,791 (GRCm39)		probably null	Het
Ncan	A	G	8: 70,567,984 (GRCm39)	S43P	probably benign	Het
Necab3	G	T	2: 154,388,013 (GRCm39)	Q292K	probably benign	Het
Nptx2	T	C	5: 144,484,950 (GRCm39)	S148P	probably damaging	Het
Or2at4	A	T	7: 99,385,135 (GRCm39)	I262L	probably benign	Het
Or6p1	G	A	1: 174,258,032 (GRCm39)	V13I	probably benign	Het
Pde6a	A	G	18: 61,419,006 (GRCm39)	E794G	possibly damaging	Het
Pus7	T	C	5: 23,980,964 (GRCm39)	Y133C	possibly damaging	Het
Rad21l	A	G	2: 151,496,508 (GRCm39)		probably benign	Het
Rptor	A	T	11: 119,712,603 (GRCm39)		probably benign	Het
Sart1	C	A	19: 5,438,424 (GRCm39)	A78S	probably benign	Het
Shkbp1	T	C	7: 27,051,486 (GRCm39)	E191G	probably benign	Het
Slc6a18	A	T	13: 73,822,751 (GRCm39)		probably null	Het
Stxbp5	T	C	10: 9,646,272 (GRCm39)	T147A	probably benign	Het
Sv2b	A	G	7: 74,807,015 (GRCm39)		probably null	Het
Syne2	A	T	12: 76,088,778 (GRCm39)	K5045N	probably damaging	Het
Tmem174	A	C	13: 98,773,347 (GRCm39)	M161R	possibly damaging	Het
Tmprss7	A	G	16: 45,476,820 (GRCm39)	V814A	probably damaging	Het
Togaram2	T	C	17: 72,021,225 (GRCm39)		probably benign	Het
Tpr	T	C	1: 150,319,009 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,730,572 (GRCm39)		probably benign	Het
Ubr4	T	A	4: 139,157,568 (GRCm39)	L2375Q	possibly damaging	Het
Utp20	T	C	10: 88,600,537 (GRCm39)	E1987G	probably damaging	Het
Utrn	T	C	10: 12,560,195 (GRCm39)	T1365A	probably damaging	Het
Vmn2r116	T	A	17: 23,605,072 (GRCm39)	Y128*	probably null	Het
Vmn2r5	A	G	3: 64,411,734 (GRCm39)	V278A	probably damaging	Het
Vps13d	C	T	4: 144,832,479 (GRCm39)	S2809N	probably benign	Het
Zfp212	G	A	6: 47,903,619 (GRCm39)	R68H	probably damaging	Het
Zfp442	A	T	2: 150,253,160 (GRCm39)	L33Q	probably damaging	Het
Zfp629	T	C	7: 127,211,255 (GRCm39)	S185G	probably damaging	Het
Zfp738	A	G	13: 67,831,508 (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
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'- ATGCCAGCTACTGGACTGGAACAC -3'
(R):5'- AGCTTTCTAAGTGCAGCCCAGCTC -3'

Sequencing Primer
(F):5'- CTGGACTGGAACACGGCAG -3'
(R):5'- GAACTCTTCCCATAGGACAGATGTG -3'

Posted On

2013-05-09