Mutagenetix > Incidental Mutations

Incidental Mutation 'R3552:Ccni'

268984

Institutional Source

Beutler Lab

Gene Symbol

Ccni

Ensembl Gene

ENSMUSG00000063015

Gene Name

cyclin I

Synonyms

MMRRC Submission

040669-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3552 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93181933-93206495 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 93187761 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 173 (S173G)

Ref Sequence

ENSEMBL: ENSMUSP00000050189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058550] [ENSMUST00000144514] [ENSMUST00000151568] [ENSMUST00000201823]

Predicted Effect

probably benign
Transcript: ENSMUST00000058550
AA Change: S173G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000050189
Gene: ENSMUSG00000063015
AA Change: S173G

Domain	Start	End	E-Value	Type
CYCLIN	50	136	1.18e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123033

Predicted Effect

probably benign
Transcript: ENSMUST00000144514

SMART Domains

Protein: ENSMUSP00000122434
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
Pfam:Cyclin_N	14	81	2.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151568

SMART Domains

Protein: ENSMUSP00000116224
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
CYCLIN	50	136	1.18e-16	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000201581

Predicted Effect

probably benign
Transcript: ENSMUST00000201823

SMART Domains

Protein: ENSMUSP00000143972
Gene: ENSMUSG00000063015

Domain	Start	End	E-Value	Type
CYCLIN	3	89	7.4e-19	SMART

Meta Mutation Damage Score

0.0638

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.4%

Validation Efficiency

100% (66/66)

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. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression. [provided by RefSeq, Jan 2017]
PHENOTYPE: Mice homozygous for a targeted null mutation are viable and fertile and do not display any gross physical or behavioral abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	A	G	18: 38,258,365		probably benign	Het
Acaca	T	A	11: 84,261,624	Y866N	probably damaging	Het
Agk	A	G	6: 40,394,681	T371A	probably benign	Het
Akna	T	C	4: 63,398,124	M1V	probably null	Het
Aldh7a1	T	C	18: 56,550,292		probably null	Het
Ankrd26	A	T	6: 118,507,776	L1500H	probably damaging	Het
Atp13a5	T	A	16: 29,310,766	D452V	probably damaging	Het
Bahcc1	C	T	11: 120,276,772	T1333M	possibly damaging	Het
Carmil3	G	T	14: 55,507,402	R1276L	possibly damaging	Het
Chrm2	A	T	6: 36,523,810	I201F	probably damaging	Het
Col16a1	A	G	4: 130,077,041	T618A	probably benign	Het
Dock2	T	C	11: 34,720,960	Y192C	probably benign	Het
Ep400	T	A	5: 110,729,287	E821V	unknown	Het
Esrrg	G	A	1: 188,150,190	V215I	probably benign	Het
Evx1	A	T	6: 52,316,923	S359C	probably damaging	Het
Fcrls	A	G	3: 87,259,410	I92T	possibly damaging	Het
Gal3st1	T	A	11: 3,998,110	F106I	possibly damaging	Het
Gm9944	T	C	4: 144,453,043		probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Hrc	G	C	7: 45,336,333	E303Q	possibly damaging	Het
Kcnh1	A	G	1: 192,238,766	N118D	probably damaging	Het
Khdrbs1	A	G	4: 129,720,791	I323T	possibly damaging	Het
Klhdc7b	T	C	15: 89,387,521	Y869H	probably benign	Het
Lrrc4c	T	A	2: 97,629,961	W311R	probably damaging	Het
Megf11	A	G	9: 64,695,463	D862G	possibly damaging	Het
Muc5b	A	G	7: 141,861,335	T2673A	possibly damaging	Het
Muc5b	A	G	7: 141,867,705	S4311G	probably benign	Het
Myo15	C	T	11: 60,509,663	A1767V	possibly damaging	Het
Neo1	T	A	9: 58,893,878	K1140M	probably damaging	Het
Oc90	T	C	15: 65,878,801	Q365R	possibly damaging	Het
Olfr1012	T	C	2: 85,759,893	N161S	possibly damaging	Het
Olfr378	T	C	11: 73,425,852	I44V	probably benign	Het
Olfr48	A	C	2: 89,844,343	M210R	possibly damaging	Het
Oplah	C	T	15: 76,302,094	D734N	possibly damaging	Het
Pbx1	G	A	1: 168,158,793	P411L	possibly damaging	Het
Pcdhga6	G	T	18: 37,708,217	R330L	probably benign	Het
Phox2b	C	A	5: 67,097,656	R150L	probably damaging	Het
Plscr2	A	G	9: 92,290,795	E169G	probably damaging	Het
Ptprn2	A	T	12: 116,888,877	Q518L	probably benign	Het
Rbl1	A	T	2: 157,195,585	I214K	probably benign	Het
Ryr1	T	A	7: 29,056,997	Q3464L	probably damaging	Het
Ryr3	T	A	2: 112,751,787	I2854F	probably damaging	Het
Shtn1	T	C	19: 58,975,038	Y615C	probably benign	Het
Sirt5	A	T	13: 43,383,167	N226Y	probably damaging	Het
Slc30a3	G	A	5: 31,095,078		probably benign	Het
Slc5a4b	A	G	10: 76,081,524	V226A	probably damaging	Het
Slf2	C	A	19: 44,934,951	S68*	probably null	Het
Smyd5	G	A	6: 85,442,211	E292K	probably damaging	Het
Spns1	A	G	7: 126,370,371	V512A	possibly damaging	Het
Sry	T	A	Y: 2,663,141	Q173L	unknown	Het
Ssrp1	C	A	2: 85,044,392	Q519K	probably benign	Het
Tgfbr3	T	C	5: 107,139,839	E498G	probably damaging	Het
Tnrc6b	T	G	15: 80,880,247	L650W	probably damaging	Het
Tnxb	A	T	17: 34,718,721	E3861D	probably damaging	Het
Trbc1	G	T	6: 41,539,645		probably benign	Het
Trpm7	T	A	2: 126,826,710		probably benign	Het
Usp39	G	A	6: 72,337,832	T197I	possibly damaging	Het
Vmn1r38	T	C	6: 66,776,493	H213R	possibly damaging	Het
Washc2	A	G	6: 116,220,568	D168G	probably damaging	Het
Washc4	A	G	10: 83,546,856	I45V	probably benign	Het
Zfp352	A	G	4: 90,225,102	E493G	probably benign	Het
Zfp692	C	T	11: 58,309,428	T170I	possibly damaging	Het
Zfp735	C	A	11: 73,711,241	S337*	probably null	Het

Other mutations in Ccni

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02301:Ccni	APN	5	93188175	missense	possibly damaging	0.77
IGL02545:Ccni	APN	5	93187777	missense	probably benign	0.01
IGL02865:Ccni	APN	5	93183336	missense	probably benign	0.04
R0234:Ccni	UTSW	5	93202327	missense	probably benign	0.02
R0234:Ccni	UTSW	5	93202327	missense	probably benign	0.02
R0541:Ccni	UTSW	5	93187704	missense	probably benign	0.00
R0718:Ccni	UTSW	5	93202316	missense	probably benign	0.00
R0760:Ccni	UTSW	5	93183329	missense	possibly damaging	0.89
R1656:Ccni	UTSW	5	93188074	splice site	probably null
R1752:Ccni	UTSW	5	93202456	start gained	probably benign
R1817:Ccni	UTSW	5	93188108	missense	possibly damaging	0.89
R3551:Ccni	UTSW	5	93187761	missense	probably benign	0.05
R3956:Ccni	UTSW	5	93183404	missense	probably damaging	1.00
R4809:Ccni	UTSW	5	93187570	intron	probably benign
R4901:Ccni	UTSW	5	93183144	missense	probably damaging	1.00
R4937:Ccni	UTSW	5	93188254	splice site	probably null
R4975:Ccni	UTSW	5	93187694	missense	possibly damaging	0.83
R7120:Ccni	UTSW	5	93183331	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGCTTGATACCTGTGCTTTCTG -3'
(R):5'- CTCTTCCTATGGATTTAGGGGAAAC -3'

Sequencing Primer
(F):5'- TTCTGAAGCAGTTCAATCGTAAGAGG -3'
(R):5'- TCTGAAAATGTATCAAATCACCACAG -3'

Posted On

2015-02-19