Mutagenetix > Incidental Mutation

Incidental Mutation 'R7842:Ccnc'

606361

Institutional Source

Beutler Lab

Gene Symbol

Ccnc

Ensembl Gene

ENSMUSG00000028252

Gene Name

cyclin C

Synonyms

MMRRC Submission

045896-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7842 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21727701-21759922 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 21730480 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 39 (K39T)

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: K39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000069076
Gene: ENSMUSG00000028252
AA Change: K39T

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: K39T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100062
Gene: ENSMUSG00000028252
AA Change: K39T

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: K39T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103875
Gene: ENSMUSG00000028252
AA Change: K39T

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: K39T

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113682
Gene: ENSMUSG00000028252
AA Change: K39T

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

99% (77/78)

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700034J05Rik	T	C	6: 146,855,034 (GRCm39)	T3A	unknown	Het
4933412E24Rik	T	C	15: 59,888,422 (GRCm39)	E6G	probably damaging	Het
Abca6	A	G	11: 110,087,523 (GRCm39)	L1135P	possibly damaging	Het
Agps	A	G	2: 75,681,876 (GRCm39)	D113G	probably damaging	Het
Ankhd1	G	T	18: 36,780,881 (GRCm39)	V1978L	probably benign	Het
Ankrd31	T	A	13: 96,957,966 (GRCm39)		probably null	Het
Arhgap5	T	A	12: 52,565,480 (GRCm39)	M817K	possibly damaging	Het
Bdp1	C	A	13: 100,235,637 (GRCm39)	V105F	probably damaging	Het
Brdt	A	G	5: 107,496,454 (GRCm39)	N189D	possibly damaging	Het
Ccdc180	A	T	4: 45,909,428 (GRCm39)	N532I	probably benign	Het
Cfap251	T	C	5: 123,392,487 (GRCm39)	V207A	unknown	Het
Cfap57	C	A	4: 118,411,952 (GRCm39)	G1231*	probably null	Het
Chd7	A	T	4: 8,854,115 (GRCm39)	T1896S	probably benign	Het
Clk4	A	T	11: 51,171,956 (GRCm39)	H412L	probably benign	Het
Creld1	T	C	6: 113,465,100 (GRCm39)	L109P	probably damaging	Het
Cxxc4	A	T	3: 133,946,093 (GRCm39)	I225L	possibly damaging	Het
Cyp4f39	A	T	17: 32,702,291 (GRCm39)	R263W	probably benign	Het
Dennd10	G	A	19: 60,819,317 (GRCm39)	A263T	not run	Het
Dip2c	T	C	13: 9,656,569 (GRCm39)		probably null	Het
Dnah14	A	G	1: 181,455,463 (GRCm39)	T863A	probably damaging	Het
Dnah17	C	A	11: 117,970,508 (GRCm39)		probably null	Het
Dnajc10	A	G	2: 80,175,409 (GRCm39)	K599E	probably benign	Het
Dnajc7	C	A	11: 100,489,544 (GRCm39)	R101L	probably benign	Het
Dnttip2	G	A	3: 122,069,990 (GRCm39)	E402K	probably benign	Het
Dusp22	T	A	13: 30,852,774 (GRCm39)		probably null	Het
Egflam	C	A	15: 7,280,675 (GRCm39)	R450M	probably null	Het
Eml5	C	T	12: 98,760,394 (GRCm39)	R1785Q	probably damaging	Het
Fam78b	G	T	1: 166,829,178 (GRCm39)	R15L	probably damaging	Het
Fbxl5	A	T	5: 43,915,945 (GRCm39)	I489N	probably damaging	Het
Flt3	G	A	5: 147,271,263 (GRCm39)	P893S	probably damaging	Het
Gm17019	T	C	5: 15,081,049 (GRCm39)	M131V	possibly damaging	Het
Gm21560	T	A	14: 6,216,262 (GRCm38)	I194F	probably benign	Het
Gm28729	T	C	9: 96,399,705 (GRCm39)	D158G	probably damaging	Het
Gucy2c	C	T	6: 136,746,814 (GRCm39)		probably null	Het
Hectd1	C	T	12: 51,819,343 (GRCm39)	G1247S	probably damaging	Het
Ireb2	T	A	9: 54,816,970 (GRCm39)	I946K	probably benign	Het
Itgb4	A	T	11: 115,873,531 (GRCm39)	D249V	probably benign	Het
Klhdc7a	A	G	4: 139,694,549 (GRCm39)	S133P	probably damaging	Het
Lsr	A	T	7: 30,665,437 (GRCm39)	D172E	possibly damaging	Het
Macf1	T	C	4: 123,420,702 (GRCm39)	E184G	probably benign	Het
Map2	T	A	1: 66,455,570 (GRCm39)	D1421E	probably benign	Het
Map3k4	A	T	17: 12,490,030 (GRCm39)	L467H	possibly damaging	Het
Mogat1	T	C	1: 78,499,502 (GRCm39)		probably null	Het
Mxra8	A	G	4: 155,927,367 (GRCm39)	D384G	probably damaging	Het
Myo15b	A	G	11: 115,762,321 (GRCm39)	T1214A		Het
Naip1	T	C	13: 100,563,506 (GRCm39)	Y553C	probably damaging	Het
Nln	A	T	13: 104,189,137 (GRCm39)	I278K	probably benign	Het
Nsmaf	T	A	4: 6,435,109 (GRCm39)		probably null	Het
Nynrin	A	G	14: 56,102,553 (GRCm39)	R741G	probably damaging	Het
Or4p8	A	G	2: 88,727,305 (GRCm39)	V212A	possibly damaging	Het
Or52e19b	A	G	7: 103,032,783 (GRCm39)	V142A	probably benign	Het
Or5d38	C	T	2: 87,955,330 (GRCm39)		probably benign	Het
Or8j3	G	T	2: 86,028,516 (GRCm39)	Y193*	probably null	Het
Orc1	A	G	4: 108,462,744 (GRCm39)	H607R	probably benign	Het
Pate2	A	T	9: 35,581,829 (GRCm39)	Y41F	probably damaging	Het
Pcdhb20	A	T	18: 37,638,112 (GRCm39)	T213S	possibly damaging	Het
Pcm1	G	A	8: 41,780,621 (GRCm39)	E1858K	possibly damaging	Het
Pla2g2d	A	G	4: 138,506,089 (GRCm39)	T59A	probably damaging	Het
Ppl	C	T	16: 4,906,725 (GRCm39)	R1190H	probably damaging	Het
Prl2c2	A	G	13: 13,179,907 (GRCm39)	L2P	probably benign	Het
Proz	G	A	8: 13,113,406 (GRCm39)	V76I	probably benign	Het
Prr36	A	G	8: 4,260,953 (GRCm39)	S955P	probably benign	Het
Pter	T	C	2: 12,983,352 (GRCm39)	V119A	probably damaging	Het
Qrich1	T	A	9: 108,433,567 (GRCm39)		probably null	Het
Rbm15b	T	C	9: 106,763,088 (GRCm39)	E360G	probably damaging	Het
Skint11	G	A	4: 114,101,968 (GRCm39)	C327Y	possibly damaging	Het
Spag17	T	A	3: 99,961,174 (GRCm39)	S987T	probably benign	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Tbx1	T	C	16: 18,405,365 (GRCm39)	S100G	unknown	Het
Tiam2	C	T	17: 3,568,399 (GRCm39)	S1515L	possibly damaging	Het
Togaram1	C	A	12: 65,013,233 (GRCm39)	D161E	probably damaging	Het
Trhde	A	T	10: 114,532,003 (GRCm39)	S366T	possibly damaging	Het
Ttc12	A	G	9: 49,349,724 (GRCm39)	I691T	possibly damaging	Het
Ube4a	A	G	9: 44,861,025 (GRCm39)		probably null	Het
Uggt2	A	T	14: 119,235,516 (GRCm39)	I1453N	probably damaging	Het
Unc79	T	C	12: 103,058,313 (GRCm39)	S972P	probably damaging	Het
Wdr20	G	A	12: 110,704,649 (GRCm39)	D63N	probably benign	Het
Wls	T	A	3: 159,578,816 (GRCm39)	I126N	probably benign	Het
Xirp2	A	G	2: 67,355,289 (GRCm39)	D3350G	probably benign	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
R7563:Ccnc	UTSW	4	21,732,220 (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'- TGCCTCGTAGAAGATGGTAAGC -3'
(R):5'- TGCCTGAGATTAGTCAACACTGG -3'

Sequencing Primer
(F):5'- CCTCGTAGAAGATGGTAAGCTTATTG -3'
(R):5'- CACTGGGCTATAATACATAAGGTGC -3'

Posted On

2019-12-20