Mutagenetix > Incidental Mutation

Incidental Mutation 'R7841:Ccnh'

606328

Institutional Source

Beutler Lab

Gene Symbol

Ccnh

Ensembl Gene

ENSMUSG00000021548

Gene Name

cyclin H

Synonyms

6330408H09Rik

MMRRC Submission

045895-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R7841 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85337504-85361850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 85337712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 20 (A20T)

Ref Sequence

ENSEMBL: ENSMUSP00000131136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022030] [ENSMUST00000163600] [ENSMUST00000164127] [ENSMUST00000165077]

AlphaFold

Q61458

Predicted Effect

probably benign
Transcript: ENSMUST00000022030
AA Change: A20T

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

SMART Domains

Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: A20T

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: ENSMUST00000163600
AA Change: A20T

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

SMART Domains

Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: A20T

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: ENSMUST00000164127
AA Change: A20T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
AA Change: A20T

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: ENSMUST00000165077
AA Change: A20T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548
AA Change: A20T

Domain	Start	End	E-Value	Type
PDB:1JKW\|A	1	111	1e-72	PDB
SCOP:d1jkw_1	11	104	1e-18	SMART
Blast:CYCLIN	62	111	5e-25	BLAST

Coding Region Coverage

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

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016H13Rik	T	C	5: 103,802,806 (GRCm39)	K16R	possibly damaging	Het
2810408A11Rik	A	G	11: 69,790,112 (GRCm39)	F210L	probably benign	Het
Adam6a	G	T	12: 113,509,078 (GRCm39)	D484Y	probably damaging	Het
B9d1	A	G	11: 61,397,192 (GRCm39)	Y29C	possibly damaging	Het
Cald1	T	C	6: 34,722,696 (GRCm39)	F115L	unknown	Het
Ccnd1	A	T	7: 144,491,718 (GRCm39)	M107K	probably damaging	Het
Cep162	T	C	9: 87,126,369 (GRCm39)	D181G	probably benign	Het
Cep44	AACGC	A	8: 56,994,018 (GRCm39)		probably null	Het
Ces2b	A	G	8: 105,561,692 (GRCm39)	D262G	probably benign	Het
Cic	A	G	7: 24,985,192 (GRCm39)	Y1146C	probably damaging	Het
Cmtm1	G	A	8: 105,036,108 (GRCm39)	R174C	possibly damaging	Het
Cobl	G	T	11: 12,203,324 (GRCm39)	P1126H	probably damaging	Het
Col14a1	T	A	15: 55,245,876 (GRCm39)	M460K	unknown	Het
Cst11	G	A	2: 148,613,227 (GRCm39)	R33W	possibly damaging	Het
Cyp19a1	A	T	9: 54,079,089 (GRCm39)	V340E	probably benign	Het
Dbt	A	T	3: 116,339,746 (GRCm39)	Q378L	possibly damaging	Het
Dchs1	A	G	7: 105,412,180 (GRCm39)	V1312A	probably benign	Het
Eif3l	T	C	15: 78,973,779 (GRCm39)	M398T	probably benign	Het
Faxc	A	G	4: 21,958,584 (GRCm39)	H247R	probably benign	Het
Fbxl17	T	C	17: 63,794,820 (GRCm39)	R421G	probably damaging	Het
Fbxo3	T	A	2: 103,890,337 (GRCm39)	D450E	unknown	Het
Fmn1	T	C	2: 113,359,810 (GRCm39)		probably null	Het
Foxs1	T	A	2: 152,774,907 (GRCm39)	M49L	possibly damaging	Het
Gucy1a2	A	G	9: 3,634,766 (GRCm39)	E270G	probably benign	Het
Helz2	T	C	2: 180,874,695 (GRCm39)	D1933G	probably damaging	Het
Hspa4	G	A	11: 53,157,887 (GRCm39)	A572V	possibly damaging	Het
Ica1	T	A	6: 8,737,072 (GRCm39)	D174V	probably damaging	Het
Igfbp6	A	T	15: 102,056,352 (GRCm39)	Q137L	possibly damaging	Het
Il1r2	T	C	1: 40,144,628 (GRCm39)	L105P	probably damaging	Het
Iqca1	A	T	1: 89,987,337 (GRCm39)	C72S		Het
Itgbl1	T	C	14: 124,209,645 (GRCm39)		probably null	Het
Ivl	T	A	3: 92,479,699 (GRCm39)	Q122L	possibly damaging	Het
Kdsr	T	C	1: 106,671,415 (GRCm39)	E198G	probably damaging	Het
Lama2	T	C	10: 27,031,529 (GRCm39)	T1510A	probably benign	Het
Lrrc37a	A	T	11: 103,391,931 (GRCm39)	Y1165N	probably benign	Het
Mycbp2	A	G	14: 103,384,267 (GRCm39)		probably null	Het
Myh3	A	G	11: 66,989,518 (GRCm39)	E1546G	probably damaging	Het
Nacad	A	T	11: 6,551,031 (GRCm39)	V720E	probably benign	Het
Napa	A	G	7: 15,849,559 (GRCm39)	D257G	possibly damaging	Het
Nif3l1	T	C	1: 58,487,042 (GRCm39)	V76A	probably damaging	Het
Nkapd1	A	C	9: 50,521,716 (GRCm39)	S68R	probably damaging	Het
Nphp4	G	A	4: 152,581,140 (GRCm39)	S108N	probably benign	Het
Npr1	A	T	3: 90,362,175 (GRCm39)	L990H	probably damaging	Het
Nup205	A	G	6: 35,224,372 (GRCm39)	R322G	unknown	Het
Or4a79	C	A	2: 89,552,309 (GRCm39)	A49S	probably benign	Het
Or4q3	G	T	14: 50,583,285 (GRCm39)	Q174K	probably benign	Het
Or52n2c	T	A	7: 104,574,066 (GRCm39)	I302F	possibly damaging	Het
Or8c14-ps1	T	G	9: 38,101,777 (GRCm39)	M252R	unknown	Het
Or8c19-ps1	T	A	9: 38,220,817 (GRCm39)	V242E	unknown	Het
Ovch2	G	T	7: 107,393,298 (GRCm39)	Q192K	probably benign	Het
Pcca	T	A	14: 122,800,384 (GRCm39)	D91E	probably benign	Het
Pole2	T	C	12: 69,251,032 (GRCm39)	T444A	probably damaging	Het
Ppip5k1	T	C	2: 121,173,276 (GRCm39)	K466E	probably benign	Het
Prr35	A	T	17: 26,167,458 (GRCm39)	Y26*	probably null	Het
Ptgfrn	A	T	3: 100,968,126 (GRCm39)	I489N	probably damaging	Het
Rassf1	A	G	9: 107,438,744 (GRCm39)	*341W	probably null	Het
Ret	G	A	6: 118,132,321 (GRCm39)	P1040S	probably damaging	Het
Rictor	C	T	15: 6,801,635 (GRCm39)	S441L	probably benign	Het
Rsf1	A	AAGGCGACGG	7: 97,229,111 (GRCm39)		probably null	Het
Slc6a17	A	T	3: 107,384,214 (GRCm39)	Y377N	possibly damaging	Het
Snrnp200	C	A	2: 127,078,754 (GRCm39)	D1806E	probably benign	Het
Synj2	G	A	17: 6,094,419 (GRCm39)	R1215H	unknown	Het
Tbc1d5	TTGCTGCTGGTGTTGCTGCTGCTGCTGCTG	TTGCTGCTG	17: 51,106,950 (GRCm39)		probably benign	Het
Top2a	A	T	11: 98,913,176 (GRCm39)	D85E	probably damaging	Het
Tram1l1	A	T	3: 124,115,353 (GRCm39)	Q171L	probably damaging	Het
Tram1l1	G	T	3: 124,115,354 (GRCm39)	Q171H	probably damaging	Het
Tspyl4	A	G	10: 34,174,267 (GRCm39)	H253R	probably damaging	Het
Ttn	T	C	2: 76,662,490 (GRCm39)	I23V		Het
Ubr5	T	C	15: 37,981,150 (GRCm39)	N2376D		Het
Ugt2b37	T	C	5: 87,398,489 (GRCm39)	N316D	probably benign	Het
Usp31	A	C	7: 121,247,679 (GRCm39)	S1255A	probably benign	Het
Usp31	A	T	7: 121,276,535 (GRCm39)	V334E	probably damaging	Het
Vmn2r108	A	G	17: 20,690,305 (GRCm39)		probably null	Het
Vmn2r87	T	A	10: 130,333,095 (GRCm39)	T52S	probably benign	Het
Vrk2	C	A	11: 26,421,457 (GRCm39)	L500F	probably damaging	Het
Zan	T	A	5: 137,435,064 (GRCm39)	I2110F	unknown	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
R6784:Ccnh	UTSW	13	85,360,884 (GRCm39)	missense	probably benign
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'- ATGGTTCTTTGTGCCCAGGC -3'
(R):5'- AAGTCCGCACTCTTCCAAG -3'

Sequencing Primer
(F):5'- TCTGGAACCTGGATCCCTG -3'
(R):5'- AGTCCCCAGGATGTCACTCAG -3'

Posted On

2019-12-20