Mutagenetix > Incidental Mutation

Incidental Mutation 'R7871:Ccnh'

608130

Institutional Source

Beutler Lab

Gene Symbol

Ccnh

Ensembl Gene

ENSMUSG00000021548

Gene Name

cyclin H

Synonyms

6330408H09Rik

MMRRC Submission

045923-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R7871 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

85337504-85361850 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 85359991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 297 (Y297*)

Ref Sequence

ENSEMBL: ENSMUSP00000131136 (fasta)

Gene Model

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

AlphaFold

Q61458

Predicted Effect

probably null
Transcript: ENSMUST00000022030
AA Change: Y297*

SMART Domains

Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: Y297*

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 null
Transcript: ENSMUST00000163600
AA Change: Y261*

SMART Domains

Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: Y261*

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

Predicted Effect

probably null
Transcript: ENSMUST00000163713
AA Change: Y99*

SMART Domains

Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548
AA Change: Y99*

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

Predicted Effect

probably null
Transcript: ENSMUST00000164127
AA Change: Y297*

SMART Domains

Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
AA Change: Y297*

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (64/66)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,331,092 (GRCm39)	S1041P	probably benign	Het
Aatf	ACACACACACACACACACACACACACACACACACACACACACACACACAC	ACACACACACACACACACACACACACACACACACACACACACACACACACAC	11: 84,361,864 (GRCm39)		probably null	Het
Arpin	A	T	7: 79,577,463 (GRCm39)	W195R	probably damaging	Het
Asap1	A	G	15: 63,963,925 (GRCm39)	V1091A	probably damaging	Het
Asxl3	A	G	18: 22,657,281 (GRCm39)	T1764A	not run	Het
Bmp7	C	A	2: 172,781,784 (GRCm39)	A27S	probably benign	Het
Ccno	C	A	13: 113,124,647 (GRCm39)	D72E	probably benign	Het
Cd70	T	G	17: 57,455,770 (GRCm39)	T67P	probably damaging	Het
Chml	CTGTTTG	CTG	1: 175,514,966 (GRCm39)		probably null	Het
Chst4	A	G	8: 110,757,545 (GRCm39)	F106S	probably damaging	Het
Cntnap3	A	C	13: 65,051,587 (GRCm39)	L23R	probably benign	Het
Crybg2	T	A	4: 133,814,910 (GRCm39)	L1288H	probably damaging	Het
Cse1l	T	A	2: 166,777,591 (GRCm39)		probably null	Het
Cyfip2	T	C	11: 46,133,177 (GRCm39)	H841R	probably damaging	Het
Cyp2c39	T	C	19: 39,549,405 (GRCm39)	Y308H	possibly damaging	Het
Cyp4f18	G	A	8: 72,742,487 (GRCm39)	P498S	possibly damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dnah3	T	A	7: 119,566,775 (GRCm39)	I97F		Het
Entpd3	A	G	9: 120,389,652 (GRCm39)	R313G	possibly damaging	Het
Erg28	G	A	12: 85,866,253 (GRCm39)	T75I	probably damaging	Het
Fam171a1	A	G	2: 3,226,421 (GRCm39)	H518R	probably benign	Het
Fam50b	G	A	13: 34,931,084 (GRCm39)	E187K	possibly damaging	Het
Galntl6	T	C	8: 58,290,222 (GRCm39)	E457G	probably damaging	Het
Glt8d1	A	T	14: 30,732,296 (GRCm39)	H192L	probably damaging	Het
Gm15446	T	A	5: 110,091,165 (GRCm39)	C472*	probably null	Het
Gm28363	A	T	1: 117,625,228 (GRCm39)	M1L	unknown	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gstp3	T	A	19: 4,108,746 (GRCm39)	K45*	probably null	Het
Hsd17b13	A	G	5: 104,113,681 (GRCm39)	F258L	possibly damaging	Het
Htt	T	C	5: 35,021,993 (GRCm39)	S1646P	probably benign	Het
Ipo11	T	C	13: 107,028,976 (GRCm39)	M326V	probably benign	Het
Itpr3	T	A	17: 27,336,153 (GRCm39)	I2293N	probably damaging	Het
Klk1b8	A	G	7: 43,448,750 (GRCm39)		probably null	Het
Kntc1	T	A	5: 123,922,290 (GRCm39)	L963H	probably damaging	Het
Lyst	T	A	13: 13,810,637 (GRCm39)	L769*	probably null	Het
Map3k13	A	G	16: 21,740,346 (GRCm39)	S558G	probably benign	Het
Mbd1	G	A	18: 74,407,128 (GRCm39)		probably null	Het
Mep1a	T	C	17: 43,790,126 (GRCm39)	N408D	probably benign	Het
Mtrf1	A	G	14: 79,644,378 (GRCm39)	T229A	probably benign	Het
Muc4	C	T	16: 32,754,935 (GRCm38)	S1603L	unknown	Het
Myo1b	A	C	1: 51,818,739 (GRCm39)	I512S	possibly damaging	Het
N4bp2	A	G	5: 65,964,446 (GRCm39)	I832V	probably benign	Het
Nadsyn1	T	A	7: 143,352,233 (GRCm39)	K618*	probably null	Het
Ncstn	T	C	1: 171,903,023 (GRCm39)	D87G	probably benign	Het
Neurl4	T	C	11: 69,794,012 (GRCm39)	V156A	probably benign	Het
Nfasc	C	A	1: 132,527,751 (GRCm39)	G885V	not run	Het
Nox4	A	T	7: 86,963,335 (GRCm39)	Y180F	possibly damaging	Het
Nuggc	A	G	14: 65,860,700 (GRCm39)	T449A	probably benign	Het
Or6c209	A	G	10: 129,483,281 (GRCm39)	I95V	probably benign	Het
Pik3r4	T	C	9: 105,540,316 (GRCm39)	S735P	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,735 (GRCm39)	I645T	probably damaging	Het
Rras2	G	A	7: 113,716,783 (GRCm39)		probably benign	Het
Rtel1	T	C	2: 180,962,822 (GRCm39)	M25T	probably damaging	Het
Serpinb3c	T	A	1: 107,200,883 (GRCm39)	Y178F	possibly damaging	Het
Sh3bp2	A	G	5: 34,716,429 (GRCm39)	H280R	not run	Het
Six4	CT	C	12: 73,151,013 (GRCm39)		probably benign	Het
Skor1	T	C	9: 63,053,783 (GRCm39)	E62G	probably damaging	Het
Slc22a22	T	A	15: 57,126,751 (GRCm39)	N106I	possibly damaging	Het
Slc44a4	T	A	17: 35,142,828 (GRCm39)		probably null	Het
Sppl2c	A	G	11: 104,079,342 (GRCm39)		probably null	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Stx5a	T	A	19: 8,732,482 (GRCm39)	W384R	unknown	Het
Topaz1	A	G	9: 122,609,765 (GRCm39)	Y1111C	possibly damaging	Het
Ttbk1	T	A	17: 46,757,164 (GRCm39)	M1157L	probably benign	Het
Ttn	T	C	2: 76,578,489 (GRCm39)	T24135A	probably damaging	Het
Ttn	T	C	2: 76,795,481 (GRCm39)	E632G	unknown	Het
Ttn	T	C	2: 76,547,559 (GRCm39)	T32204A	probably benign	Het
Vmn2r109	T	C	17: 20,760,782 (GRCm39)	I858M	probably benign	Het
Vmn2r71	A	T	7: 85,272,869 (GRCm39)	Q561L	possibly damaging	Het
Yme1l1	A	G	2: 23,071,077 (GRCm39)	D271G	probably damaging	Het
Zfp629	A	G	7: 127,211,167 (GRCm39)	F214S	probably damaging	Het
Zfp709	A	G	8: 72,643,308 (GRCm39)	I246V	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
R6784:Ccnh	UTSW	13	85,360,884 (GRCm39)	missense	probably benign
R7841:Ccnh	UTSW	13	85,337,712 (GRCm39)	missense	probably benign	0.00
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'- CCATGCTAGACTGAACTGAAGGC -3'
(R):5'- ATAACGAGCAGCTGCCAACG -3'

Sequencing Primer
(F):5'- CAATACTGGTGCCTTAGTCCGAG -3'
(R):5'- CTGGGAGTTTAAGACCAACTTGG -3'

Posted On

2019-12-20