Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:Ccnh'

378126

Institutional Source

Beutler Lab

Gene Symbol

Ccnh

Ensembl Gene

ENSMUSG00000021548

Gene Name

cyclin H

Synonyms

6330408H09Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85337504-85361850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85354254 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 233 (S233P)

Ref Sequence

ENSEMBL: ENSMUSP00000022030 (fasta)

Gene Model

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

AlphaFold

Q61458

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022030
AA Change: S233P

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: S233P

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: S197P

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: S197P

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

Predicted Effect

unknown
Transcript: ENSMUST00000163713
AA Change: S35P

SMART Domains

Protein: ENSMUSP00000130820
Gene: ENSMUSG00000021548
AA Change: S35P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164127
AA Change: S233P

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
AA Change: S233P

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

SMART Domains

Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548

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

Meta Mutation Damage Score

0.0640

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017N19Rik	A	T	10: 100,448,680 (GRCm39)		probably null	Het
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Abcc5	A	G	16: 20,218,678 (GRCm39)	S235P	probably damaging	Het
Abcc6	T	C	7: 45,644,649 (GRCm39)	N842S	probably benign	Het
Acbd6	G	A	1: 155,500,669 (GRCm39)	V210I	probably benign	Het
Ahctf1	A	T	1: 179,576,192 (GRCm39)	V2130D	probably damaging	Het
Akap5	A	G	12: 76,375,207 (GRCm39)	E213G	probably damaging	Het
Alyref	T	G	11: 120,486,879 (GRCm39)		probably null	Het
Anapc5	G	T	5: 122,955,973 (GRCm39)	N152K	probably benign	Het
Atp8b2	A	T	3: 89,856,315 (GRCm39)	D416E	probably benign	Het
AW551984	A	T	9: 39,508,454 (GRCm39)	V354E	probably damaging	Het
Bag6	A	G	17: 35,364,162 (GRCm39)	E844G	probably damaging	Het
Bmp1	C	T	14: 70,728,802 (GRCm39)	R590H	probably benign	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,312,205 (GRCm39)		probably benign	Het
Col6a6	A	G	9: 105,644,623 (GRCm39)	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,502,282 (GRCm39)	G118S	probably damaging	Het
Dnah9	G	A	11: 65,764,950 (GRCm39)	R1414*	probably null	Het
Dnai1	A	G	4: 41,614,269 (GRCm39)	D315G	probably benign	Het
Eogt	T	C	6: 97,119,792 (GRCm39)	R139G	probably benign	Het
Fcgbpl1	A	T	7: 27,856,408 (GRCm39)	K2065M	possibly damaging	Het
Fh1	C	T	1: 175,446,639 (GRCm39)	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,374,304 (GRCm39)	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,821,545 (GRCm39)	R219L	probably damaging	Het
Gm1123	T	C	9: 98,891,369 (GRCm39)	D360G	probably benign	Het
Ift81	C	T	5: 122,729,142 (GRCm39)		probably null	Het
Itsn2	A	G	12: 4,684,583 (GRCm39)		probably benign	Het
Kri1	A	T	9: 21,198,998 (GRCm39)	H55Q	probably benign	Het
Mcidas	C	A	13: 113,130,951 (GRCm39)	A92E	possibly damaging	Het
Mcidas	C	T	13: 113,134,038 (GRCm39)	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,863,022 (GRCm39)	G130*	probably null	Het
Myh11	G	A	16: 14,068,387 (GRCm39)	T211M	probably benign	Het
Myo10	A	G	15: 25,800,298 (GRCm39)	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,139,104 (GRCm39)	T154A	probably damaging	Het
Nfatc4	T	C	14: 56,068,039 (GRCm39)	I620T	probably benign	Het
Nos3	A	T	5: 24,572,329 (GRCm39)	Y134F	probably benign	Het
Nup50l	T	A	6: 96,142,911 (GRCm39)	R44S	possibly damaging	Het
Or13c3	T	C	4: 52,855,613 (GRCm39)	N300S	probably damaging	Het
Or51a6	A	T	7: 102,604,721 (GRCm39)	I36N	probably damaging	Het
Or5b106	C	A	19: 13,123,541 (GRCm39)	A161S	probably benign	Het
Or6c209	T	A	10: 129,483,792 (GRCm39)	V265E	possibly damaging	Het
Pax9	G	T	12: 56,743,411 (GRCm39)	R19S	probably damaging	Het
Pcdha9	T	C	18: 37,131,945 (GRCm39)	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,041,614 (GRCm39)	T1730K	probably damaging	Het
Rac1	A	G	5: 143,502,907 (GRCm39)		probably null	Het
Samsn1	G	T	16: 75,673,353 (GRCm39)	F174L	possibly damaging	Het
Scaf1	G	A	7: 44,662,129 (GRCm39)	T86M	probably damaging	Het
Smc1b	A	G	15: 84,950,428 (GRCm39)	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308 (GRCm39)	I2826T	probably benign	Het
Tex36	A	G	7: 133,189,182 (GRCm39)	V130A	probably damaging	Het
Tigd5	A	G	15: 75,783,252 (GRCm39)	H538R	probably damaging	Het
Tlr3	C	A	8: 45,852,260 (GRCm39)		probably null	Het
Tubb2b	A	T	13: 34,312,187 (GRCm39)	I202N	probably damaging	Het
Unc13c	A	G	9: 73,587,674 (GRCm39)	V1453A	probably benign	Het
Unc5c	A	T	3: 141,507,071 (GRCm39)	T608S	probably benign	Het
Vrk1	C	A	12: 106,018,087 (GRCm39)	H119N	probably damaging	Het
Wdr53	T	A	16: 32,075,476 (GRCm39)	M227K	probably benign	Het
Xpo4	T	C	14: 57,875,746 (GRCm39)	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,953,992 (GRCm39)	I224T	probably damaging	Het
Zdhhc1	T	A	8: 106,210,326 (GRCm39)	E30D	probably damaging	Het
Zscan29	C	G	2: 120,991,864 (GRCm39)	R540T	possibly damaging	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
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
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'- ATCTCTTAAACTGGCAGAAGTGG -3'
(R):5'- CCCTTGAAGTGAGCTCTCTG -3'

Sequencing Primer
(F):5'- CTGGCAGAAGTGGTAGTAAGTTTTTC -3'
(R):5'- GTGAGCTCTCTGATTCTAAATGTC -3'

Posted On

2016-04-15