Mutagenetix > Incidental Mutation

Incidental Mutation 'R6784:Ccnh'

531573

Institutional Source

Beutler Lab

Gene Symbol

Ccnh

Ensembl Gene

ENSMUSG00000021548

Gene Name

cyclin H

Synonyms

6330408H09Rik

MMRRC Submission

044898-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6784 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85337504-85361850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85360884 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 284 (V284A)

Ref Sequence

ENSEMBL: ENSMUSP00000129349 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022030] [ENSMUST00000109552] [ENSMUST00000163600] [ENSMUST00000164127]

AlphaFold

Q61458

Predicted Effect

probably benign
Transcript: ENSMUST00000022030
AA Change: V320A

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

SMART Domains

Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: V320A

Domain	Start	End	E-Value	Type
CYCLIN	62	152	2.1e-13	SMART
SCOP:d1jkw_2	162	287	8e-47	SMART
Blast:CYCLIN	169	237	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000109552

SMART Domains

Protein: ENSMUSP00000105179
Gene: ENSMUSG00000021549

Domain	Start	End	E-Value	Type
low complexity region	3	32	N/A	INTRINSIC
low complexity region	37	106	N/A	INTRINSIC
low complexity region	119	142	N/A	INTRINSIC
SH2	170	253	9.44e-29	SMART
SH3	273	331	1.7e-10	SMART
SH2	340	423	7.44e-27	SMART
PH	466	570	5.11e-20	SMART
C2	586	680	6.9e-10	SMART
RasGAP	689	1035	2.77e-156	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163600
AA Change: V284A

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

SMART Domains

Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: V284A

Domain	Start	End	E-Value	Type
CYCLIN	62	152	2.1e-13	SMART
SCOP:d1jkw_2	162	251	4e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000163713

SMART Domains

Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548

Domain	Start	End	E-Value	Type
Pfam:Cyclin_C_2	1	65	2.4e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164127

SMART Domains

Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548

Domain	Start	End	E-Value	Type
CYCLIN	62	152	2.1e-13	SMART
Pfam:Cyclin_C_2	162	262	3.6e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000223598

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 96.2%

Validation Efficiency

98% (46/47)

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 forms a complex with CDK7 kinase and ring finger protein MAT1. The kinase complex is able to phosphorylate CDK2 and CDC2 kinases, thus functions as a CDK-activating kinase (CAK). This cyclin and its kinase partner are components of TFIIH, as well as RNA polymerase II protein complexes. They participate in two different transcriptional regulation processes, suggesting an important link between basal transcription control and the cell cycle machinery. A pseudogene of this gene is found on chromosome 4. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Nov 2010]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	C	T	6: 23,093,895 (GRCm39)	S142N	probably null	Het
Aida	A	G	1: 183,103,346 (GRCm39)	Y275C	probably damaging	Het
Arrdc4	A	G	7: 68,398,594 (GRCm39)	I74T	probably benign	Het
C1ql4	A	G	15: 98,985,290 (GRCm39)	V107A	probably benign	Het
Cd180	A	G	13: 102,839,213 (GRCm39)	E32G	probably damaging	Het
Chd6	T	C	2: 160,808,174 (GRCm39)	D1680G	probably damaging	Het
Cog7	A	T	7: 121,563,516 (GRCm39)		probably null	Het
Cyp2j6	T	A	4: 96,423,741 (GRCm39)	Q209L	possibly damaging	Het
Dars1	A	T	1: 128,319,084 (GRCm39)	V116E	probably damaging	Het
Dnah10	A	G	5: 124,854,890 (GRCm39)	K1932E	probably damaging	Het
Dock9	A	G	14: 121,780,926 (GRCm39)	S2086P	probably damaging	Het
Espl1	C	G	15: 102,207,660 (GRCm39)	R375G	probably benign	Het
Fer1l6	C	T	15: 58,443,275 (GRCm39)	S526L	possibly damaging	Het
Galnt9	G	A	5: 110,768,465 (GRCm39)	R587H	probably damaging	Het
Gigyf2	G	T	1: 87,371,396 (GRCm39)	V1170L	probably damaging	Het
Gm14412	G	T	2: 177,009,133 (GRCm39)	T41K	probably benign	Het
Gm45861	A	G	8: 27,990,086 (GRCm39)		probably null	Het
H2bc4	T	C	13: 23,868,483 (GRCm39)	I90T	probably damaging	Het
Hoxc5	A	G	15: 102,922,322 (GRCm39)		probably benign	Het
Jkampl	A	T	6: 73,445,918 (GRCm39)	Y210*	probably null	Het
Klra1	T	C	6: 130,349,817 (GRCm39)	D207G	probably benign	Het
Lancl2	A	G	6: 57,680,240 (GRCm39)	N57D	probably benign	Het
Map2k4	T	C	11: 65,582,577 (GRCm39)		probably benign	Het
Mgat3	G	T	15: 80,096,401 (GRCm39)	Q409H	probably damaging	Het
Mpp3	T	A	11: 101,892,974 (GRCm39)		probably null	Het
Myh1	T	A	11: 67,105,396 (GRCm39)	L1062Q	probably damaging	Het
Nebl	T	A	2: 17,439,725 (GRCm39)	K183*	probably null	Het
Npat	G	C	9: 53,469,458 (GRCm39)	D315H	probably damaging	Het
Nt5c2	A	G	19: 46,912,766 (GRCm39)	V63A	probably damaging	Het
Opn1sw	T	A	6: 29,379,846 (GRCm39)	E129D	probably damaging	Het
Or10ag2	C	T	2: 87,248,796 (GRCm39)	R135C	probably benign	Het
Or1e29	T	G	11: 73,667,676 (GRCm39)	H159P	probably damaging	Het
Or51t4	A	T	7: 102,597,722 (GRCm39)	T17S	possibly damaging	Het
Or5p1	A	T	7: 107,916,989 (GRCm39)	D296V	probably damaging	Het
Prdm16	T	C	4: 154,407,764 (GRCm39)	Y1153C	probably damaging	Het
Prdm6	T	A	18: 53,669,698 (GRCm39)	D105E	probably benign	Het
Pwwp4c	C	T	X: 73,684,021 (GRCm39)	R355H	probably damaging	Homo
Rbm27	T	C	18: 42,434,929 (GRCm39)	M331T	probably benign	Het
S1pr1	A	G	3: 115,505,710 (GRCm39)	Y295H	probably damaging	Het
Sgpp1	G	C	12: 75,782,243 (GRCm39)	P32R	probably benign	Het
Sla2	C	T	2: 156,725,589 (GRCm39)	S3N	unknown	Het
Slc10a6	A	G	5: 103,776,896 (GRCm39)	I68T	probably damaging	Het
Slc5a1	T	C	5: 33,315,460 (GRCm39)	F493S	probably benign	Het
Snx14	A	T	9: 88,263,845 (GRCm39)	Y847N	probably benign	Het
Tmc1	A	G	19: 20,805,015 (GRCm39)		probably null	Het
Vps8	C	A	16: 21,381,957 (GRCm39)	Q1130K	probably benign	Het

Other mutations in Ccnh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01984:Ccnh	APN	13	85,354,270 (GRCm39)	missense	probably damaging	1.00
IGL02544:Ccnh	APN	13	85,350,460 (GRCm39)	nonsense	probably null
IGL02547:Ccnh	APN	13	85,350,623 (GRCm39)	unclassified	probably benign
IGL03167:Ccnh	APN	13	85,345,685 (GRCm39)	splice site	probably benign
R0121:Ccnh	UTSW	13	85,354,312 (GRCm39)	missense	probably damaging	1.00
R1781:Ccnh	UTSW	13	85,354,254 (GRCm39)	missense	possibly damaging	0.59
R3775:Ccnh	UTSW	13	85,354,243 (GRCm39)	unclassified	probably benign
R4748:Ccnh	UTSW	13	85,337,758 (GRCm39)	missense	probably benign	0.41
R4905:Ccnh	UTSW	13	85,354,254 (GRCm39)	missense	possibly damaging	0.59
R5696:Ccnh	UTSW	13	85,344,446 (GRCm39)	critical splice donor site	probably null
R5976:Ccnh	UTSW	13	85,338,982 (GRCm39)	missense	probably damaging	1.00
R7841:Ccnh	UTSW	13	85,337,712 (GRCm39)	missense	probably benign	0.00
R7871:Ccnh	UTSW	13	85,359,991 (GRCm39)	nonsense	probably null
R8187:Ccnh	UTSW	13	85,337,656 (GRCm39)	start codon destroyed	probably null	1.00
R8767:Ccnh	UTSW	13	85,356,959 (GRCm39)	nonsense	probably null
R9454:Ccnh	UTSW	13	85,350,521 (GRCm39)	missense	probably benign	0.04

Predicted Primers

PCR Primer
(F):5'- ACTTGAGGTATAGAGGATCCAAAGC -3'
(R):5'- GTGGCATTCACCCCTTTTGAAG -3'

Sequencing Primer
(F):5'- TCCAAAGCTGGCTGAAGGC -3'
(R):5'- GCATTCACCCCTTTTGAAGCTATATG -3'

Posted On

2018-08-29