Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:Ccnc'

585243

Institutional Source

Beutler Lab

Gene Symbol

Ccnc

Ensembl Gene

ENSMUSG00000028252

Gene Name

cyclin C

Synonyms

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7563 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21727701-21759922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21732220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 48 (I48V)

Ref Sequence

ENSEMBL: ENSMUSP00000100062 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000065928] [ENSMUST00000102997] [ENSMUST00000108240] [ENSMUST00000120679]

AlphaFold

Q62447

Predicted Effect

probably damaging
Transcript: ENSMUST00000065928
AA Change: I48V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: I48V

Domain	Start	End	E-Value	Type
CYCLIN	46	144	2.41e-13	SMART
CYCLIN	157	236	4.11e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000102997
AA Change: I48V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: I48V

Domain	Start	End	E-Value	Type
CYCLIN	46	144	2.41e-13	SMART
CYCLIN	157	236	4.11e-7	SMART
low complexity region	258	264	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108240
AA Change: I48V

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: I48V

Domain	Start	End	E-Value	Type
CYCLIN	46	144	2.41e-13	SMART
CYCLIN	157	236	4.11e-7	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000120679
AA Change: I48V

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: I48V

Domain	Start	End	E-Value	Type
CYCLIN	46	144	2.41e-13	SMART
CYCLIN	157	236	4.11e-7	SMART
low complexity region	258	264	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the cyclin family of proteins. The encoded protein interacts with cyclin-dependent kinase 8 and induces the phophorylation of the carboxy-terminal domain of the large subunit of RNA polymerase II. The level of mRNAs for this gene peaks in the G1 phase of the cell cycle. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice die prenatally and exhibit growth retardation and placental defects. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,464 (GRCm39)	I98T	probably damaging	Het
Ahnak	T	C	19: 8,988,529 (GRCm39)	I3271T	probably damaging	Het
Aox1	G	A	1: 58,086,304 (GRCm39)	V70I	probably benign	Het
Ap1g2	A	G	14: 55,337,206 (GRCm39)	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1e	T	C	1: 154,347,162 (GRCm39)	K1064E	probably benign	Het
Capn11	T	A	17: 45,944,891 (GRCm39)	I459F	probably damaging	Het
Ces1d	T	A	8: 93,904,667 (GRCm39)	I358F	probably benign	Het
Clgn	A	T	8: 84,147,185 (GRCm39)	N379I	probably damaging	Het
Cym	T	C	3: 107,121,548 (GRCm39)	Y248C	probably damaging	Het
Epha8	T	C	4: 136,666,100 (GRCm39)	D352G	possibly damaging	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Fam219a	A	C	4: 41,569,208 (GRCm39)	V10G	probably benign	Het
Fbxl5	C	T	5: 43,978,891 (GRCm39)	V20I	probably benign	Het
Fbxl9	A	G	8: 106,042,388 (GRCm39)	C147R	probably benign	Het
Fscb	T	C	12: 64,520,059 (GRCm39)	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,496,659 (GRCm39)		probably null	Het
Grep1	A	T	17: 23,936,302 (GRCm39)	F8L	probably benign	Het
Helt	T	C	8: 46,746,630 (GRCm39)		probably benign	Het
Igkv8-27	G	T	6: 70,148,887 (GRCm39)	T89K	probably benign	Het
Ipo5	T	A	14: 121,183,567 (GRCm39)	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,212,464 (GRCm39)	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,632,680 (GRCm39)	P936S	probably benign	Het
Klrd1	A	G	6: 129,570,701 (GRCm39)	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,705,271 (GRCm39)	V1267A	probably damaging	Het
Marchf1	A	T	8: 66,920,965 (GRCm39)	Q214L	probably damaging	Het
Mlip	G	T	9: 77,020,279 (GRCm39)	H52N	probably damaging	Het
Oas1e	T	C	5: 120,927,021 (GRCm39)	R229G	probably benign	Het
Ogfr	T	A	2: 180,234,300 (GRCm39)		probably null	Het
Or4g16	T	C	2: 111,137,134 (GRCm39)	F195L	probably benign	Het
Or5m10	T	A	2: 85,717,482 (GRCm39)	Y113N	probably damaging	Het
Pde4d	T	C	13: 110,087,541 (GRCm39)	I636T	probably benign	Het
Pex5l	C	T	3: 33,008,625 (GRCm39)	V426I	probably damaging	Het
Pmfbp1	A	G	8: 110,252,006 (GRCm39)	K384E	possibly damaging	Het
Pramel22	A	T	4: 143,380,675 (GRCm39)	Y449*	probably null	Het
Prl6a1	T	G	13: 27,498,221 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,038 (GRCm39)	W344R	probably damaging	Het
Ptar1	T	A	19: 23,697,680 (GRCm39)	D397E	probably benign	Het
Qrsl1	G	A	10: 43,752,513 (GRCm39)	R437C	probably damaging	Het
Rab6a	G	T	7: 100,257,404 (GRCm39)		probably benign	Het
Samd14	C	A	11: 94,912,239 (GRCm39)	S205R	probably benign	Het
Sel1l3	T	C	5: 53,343,326 (GRCm39)	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,940,480 (GRCm39)	L669I	probably benign	Het
Ssc4d	A	G	5: 135,991,887 (GRCm39)	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,101,063 (GRCm39)	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,108,301 (GRCm39)	F417V	probably benign	Het
Top2a	T	C	11: 98,907,005 (GRCm39)	D212G	probably damaging	Het
Trim39	A	T	17: 36,571,807 (GRCm39)	V317E	probably damaging	Het
Uncx	G	A	5: 139,530,261 (GRCm39)	R113H	probably damaging	Het
Usp4	A	G	9: 108,256,543 (GRCm39)	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,510,000 (GRCm39)	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,491,200 (GRCm39)	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,182,770 (GRCm39)	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,340,245 (GRCm39)	W829R	probably damaging	Het
Zfp574	C	A	7: 24,780,777 (GRCm39)	H600N	possibly damaging	Het

Other mutations in Ccnc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00895:Ccnc	APN	4	21,742,642 (GRCm39)	nonsense	probably null
IGL01536:Ccnc	APN	4	21,732,505 (GRCm39)	missense	probably benign	0.01
IGL03083:Ccnc	APN	4	21,742,683 (GRCm39)	missense	possibly damaging	0.83
R1220:Ccnc	UTSW	4	21,732,491 (GRCm39)	missense	probably damaging	1.00
R1237:Ccnc	UTSW	4	21,730,457 (GRCm39)	missense	probably benign
R1558:Ccnc	UTSW	4	21,742,671 (GRCm39)	missense	probably benign	0.31
R2012:Ccnc	UTSW	4	21,741,955 (GRCm39)	missense	possibly damaging	0.65
R4901:Ccnc	UTSW	4	21,727,894 (GRCm39)	missense	probably damaging	0.96
R6427:Ccnc	UTSW	4	21,747,578 (GRCm39)	critical splice donor site	probably null
R6509:Ccnc	UTSW	4	21,740,642 (GRCm39)	missense	probably benign	0.27
R7421:Ccnc	UTSW	4	21,743,291 (GRCm39)	missense	probably damaging	1.00
R7842:Ccnc	UTSW	4	21,730,480 (GRCm39)	missense	probably damaging	0.99
R7917:Ccnc	UTSW	4	21,748,158 (GRCm39)	missense	possibly damaging	0.72
R8023:Ccnc	UTSW	4	21,747,578 (GRCm39)	critical splice donor site	probably null
R9408:Ccnc	UTSW	4	21,746,776 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GATATTCATCCTGCTTGTTGTAAGG -3'
(R):5'- GGGGATGGGGAATCATAATTCTACAC -3'

Sequencing Primer
(F):5'- GCTTGTTGTAAGGATAAATTGTACGC -3'
(R):5'- GAAAAGAATTTCAACCAGGC -3'

Posted On

2019-10-17