Mutagenetix > Incidental Mutation

Incidental Mutation 'R4975:Ccni'

382564

Institutional Source

Beutler Lab

Gene Symbol

Ccni

Ensembl Gene

ENSMUSG00000063015

Gene Name

cyclin I

Synonyms

MMRRC Submission

042570-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4975 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

93329792-93354354 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 93335553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 195 (L195Q)

Ref Sequence

ENSEMBL: ENSMUSP00000050189 (fasta)

Gene Model

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

AlphaFold

Q9Z2V9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000058550
AA Change: L195Q

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000050189
Gene: ENSMUSG00000063015
AA Change: L195Q

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

0.4486

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.5%
20x: 92.8%

Validation Efficiency

100% (81/81)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	A	C	3: 59,840,161 (GRCm39)	T78P	probably damaging	Het
Abcc8	T	C	7: 45,800,291 (GRCm39)	K497R	probably damaging	Het
Aldh1a3	C	T	7: 66,068,927 (GRCm39)	R19Q	possibly damaging	Het
Bmp2k	A	G	5: 97,234,944 (GRCm39)		probably benign	Het
Cdkl4	C	A	17: 80,832,764 (GRCm39)	G327*	probably null	Het
Cdsn	T	C	17: 35,866,326 (GRCm39)	V285A	possibly damaging	Het
Cfap20dc	A	G	14: 8,518,736 (GRCm38)	V240A	probably benign	Het
Chtf18	T	C	17: 25,943,540 (GRCm39)	E352G	possibly damaging	Het
Clasp2	T	A	9: 113,732,984 (GRCm39)	I961N	probably damaging	Het
Cpsf2	A	G	12: 101,949,752 (GRCm39)	Q128R	probably damaging	Het
Cttnbp2	C	A	6: 18,406,525 (GRCm39)	Q1055H	possibly damaging	Het
Cyld	T	G	8: 89,433,860 (GRCm39)	F216L	probably benign	Het
Cyp3a41a	A	G	5: 145,656,858 (GRCm39)	M1T	probably null	Het
Disp3	C	T	4: 148,328,673 (GRCm39)	R1097H	possibly damaging	Het
Dmap1	T	C	4: 117,538,233 (GRCm39)	D67G	possibly damaging	Het
Dnah8	T	C	17: 30,875,959 (GRCm39)	F529L	probably benign	Het
Ergic3	T	C	2: 155,859,638 (GRCm39)		probably null	Het
Fkbp14	A	G	6: 54,569,943 (GRCm39)	I29T	probably benign	Het
Gm4845	T	A	1: 141,184,623 (GRCm39)		noncoding transcript	Het
Gm7135	A	T	1: 97,281,801 (GRCm39)		noncoding transcript	Het
Gpbar1	TACCAC	TAC	1: 74,318,704 (GRCm39)		probably benign	Het
Gtf2ird1	T	A	5: 134,424,481 (GRCm39)	I57F	probably damaging	Het
Hectd1	A	G	12: 51,809,280 (GRCm39)	V1722A	probably benign	Het
Hmcn2	A	G	2: 31,283,037 (GRCm39)	D1971G	possibly damaging	Het
Il21	C	A	3: 37,286,653 (GRCm39)	S21I	probably damaging	Het
Itih4	T	A	14: 30,614,244 (GRCm39)	I398N	probably damaging	Het
Kansl1	A	T	11: 104,226,390 (GRCm39)	S922R	probably damaging	Het
Krt27	G	A	11: 99,237,722 (GRCm39)	Q339*	probably null	Het
Lama1	C	A	17: 68,045,829 (GRCm39)	L245I	possibly damaging	Het
Lmo2	T	A	2: 103,806,488 (GRCm39)	C60*	probably null	Het
Med16	A	G	10: 79,738,839 (GRCm39)	S316P	possibly damaging	Het
Mia3	T	C	1: 183,111,970 (GRCm39)	N529S	probably benign	Het
Msi2	T	C	11: 88,285,481 (GRCm39)	K188E	probably damaging	Het
Myh7	T	C	14: 55,209,128 (GRCm39)	K1870R	probably damaging	Het
Nhlrc1	A	G	13: 47,167,216 (GRCm39)	V347A	probably benign	Het
Nol6	C	T	4: 41,120,167 (GRCm39)	R487H	probably benign	Het
Or4c117	T	C	2: 88,955,682 (GRCm39)	Y131C	probably damaging	Het
Or4k41	T	C	2: 111,280,028 (GRCm39)	I181T	probably benign	Het
Or52h1	A	T	7: 103,828,736 (GRCm39)	V293D	probably damaging	Het
Or5d18	T	C	2: 87,865,005 (GRCm39)	I159M	probably benign	Het
Or6c205	T	C	10: 129,087,141 (GRCm39)	I246T	probably damaging	Het
Otog	T	C	7: 45,937,415 (GRCm39)	V1708A	probably benign	Het
Ptprv	A	G	1: 135,046,586 (GRCm39)		noncoding transcript	Het
Pus7l	A	G	15: 94,427,369 (GRCm39)	V471A	possibly damaging	Het
Rab11fip4	A	G	11: 79,510,497 (GRCm39)	R68G	probably damaging	Het
Ralgapb	A	G	2: 158,277,428 (GRCm39)	D264G	possibly damaging	Het
Reln	A	G	5: 22,165,424 (GRCm39)	S2045P	probably damaging	Het
Rgs22	A	C	15: 36,055,022 (GRCm39)	Y593*	probably null	Het
Ror2	C	T	13: 53,285,954 (GRCm39)	D87N	probably damaging	Het
Rps6ka4	A	T	19: 6,817,678 (GRCm39)		probably null	Het
Rttn	T	A	18: 89,082,209 (GRCm39)		probably null	Het
Runx3	A	G	4: 134,898,446 (GRCm39)	T206A	probably benign	Het
Setx	A	G	2: 29,054,562 (GRCm39)	E2158G	probably damaging	Het
Siglece	C	T	7: 43,308,396 (GRCm39)		probably null	Het
Slco1a8	T	C	6: 141,926,599 (GRCm39)	S576G	probably benign	Het
Snx1	A	T	9: 66,012,187 (GRCm39)	L96*	probably null	Het
Srrm1	A	G	4: 135,074,031 (GRCm39)		probably benign	Het
Stk39	A	T	2: 68,051,336 (GRCm39)		probably benign	Het
Sun3	G	A	11: 8,988,311 (GRCm39)	R4*	probably null	Het
Svil	A	G	18: 5,054,025 (GRCm39)	K347E	possibly damaging	Het
Sybu	T	A	15: 44,541,063 (GRCm39)	E333V	probably damaging	Het
Tet2	A	G	3: 133,192,520 (GRCm39)		probably benign	Het
Tfip11	G	T	5: 112,483,613 (GRCm39)		probably benign	Het
Tmc1	A	C	19: 20,884,319 (GRCm39)	D40E	probably damaging	Het
Twf2	G	T	9: 106,089,539 (GRCm39)	G121W	probably damaging	Het
Vpreb3	A	G	10: 75,775,636 (GRCm39)	V50A	probably damaging	Het
Vps8	T	A	16: 21,285,219 (GRCm39)	L400Q	probably damaging	Het
Xylt1	A	T	7: 117,266,565 (GRCm39)	Y861F	probably damaging	Het
Zfp608	T	G	18: 55,022,962 (GRCm39)	T1485P	probably damaging	Het
Zfp619	T	G	7: 39,186,504 (GRCm39)	S845A	possibly damaging	Het
Zscan4d	A	T	7: 10,899,274 (GRCm39)	M1K	probably null	Het

Other mutations in Ccni

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02301:Ccni	APN	5	93,336,034 (GRCm39)	missense	possibly damaging	0.77
IGL02545:Ccni	APN	5	93,335,636 (GRCm39)	missense	probably benign	0.01
IGL02865:Ccni	APN	5	93,331,195 (GRCm39)	missense	probably benign	0.04
R0234:Ccni	UTSW	5	93,350,186 (GRCm39)	missense	probably benign	0.02
R0234:Ccni	UTSW	5	93,350,186 (GRCm39)	missense	probably benign	0.02
R0541:Ccni	UTSW	5	93,335,563 (GRCm39)	missense	probably benign	0.00
R0718:Ccni	UTSW	5	93,350,175 (GRCm39)	missense	probably benign	0.00
R0760:Ccni	UTSW	5	93,331,188 (GRCm39)	missense	possibly damaging	0.89
R1656:Ccni	UTSW	5	93,335,933 (GRCm39)	splice site	probably null
R1752:Ccni	UTSW	5	93,350,315 (GRCm39)	start gained	probably benign
R1817:Ccni	UTSW	5	93,335,967 (GRCm39)	missense	possibly damaging	0.89
R3551:Ccni	UTSW	5	93,335,620 (GRCm39)	missense	probably benign	0.05
R3552:Ccni	UTSW	5	93,335,620 (GRCm39)	missense	probably benign	0.05
R3956:Ccni	UTSW	5	93,331,263 (GRCm39)	missense	probably damaging	1.00
R4809:Ccni	UTSW	5	93,335,429 (GRCm39)	intron	probably benign
R4901:Ccni	UTSW	5	93,331,003 (GRCm39)	missense	probably damaging	1.00
R4937:Ccni	UTSW	5	93,336,113 (GRCm39)	splice site	probably null
R7120:Ccni	UTSW	5	93,331,190 (GRCm39)	nonsense	probably null
R8923:Ccni	UTSW	5	93,335,943 (GRCm39)	missense	probably damaging	1.00
R9697:Ccni	UTSW	5	93,350,201 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGCCTTCTCTATCATGAACTAAC -3'
(R):5'- ACTTGCATCGTACCTGAGATG -3'

Sequencing Primer
(F):5'- TCTATCATGAACTAACTCTCCCAC -3'
(R):5'- GCATCGTACCTGAGATGTTATTTC -3'

Posted On

2016-04-27