Mutagenetix > Incidental Mutation

Incidental Mutation 'R5976:Ccnh'

471793

Institutional Source

Beutler Lab

Gene Symbol

Ccnh

Ensembl Gene

ENSMUSG00000021548

Gene Name

cyclin H

Synonyms

6330408H09Rik

MMRRC Submission

044158-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R5976 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

85337504-85361850 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 85338982 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 76 (P76L)

Ref Sequence

ENSEMBL: ENSMUSP00000130839 (fasta)

Gene Model

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

AlphaFold

Q61458

Predicted Effect

probably damaging
Transcript: ENSMUST00000022030
AA Change: P76L

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

SMART Domains

Protein: ENSMUSP00000022030
Gene: ENSMUSG00000021548
AA Change: P76L

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 damaging
Transcript: ENSMUST00000163600
AA Change: P76L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129349
Gene: ENSMUSG00000021548
AA Change: P76L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000164127
AA Change: P76L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000131136
Gene: ENSMUSG00000021548
AA Change: P76L

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 damaging
Transcript: ENSMUST00000165077
AA Change: P76L

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

SMART Domains

Protein: ENSMUSP00000130839
Gene: ENSMUSG00000021548
AA Change: P76L

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: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.2%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankar	T	C	1: 72,682,450 (GRCm39)	T1154A	probably benign	Het
Ankrd26	A	T	6: 118,494,855 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,485,172 (GRCm39)	*54R	probably null	Het
AW146154	T	G	7: 41,129,721 (GRCm39)	K465T	probably damaging	Het
Bend3	A	G	10: 43,386,540 (GRCm39)	Y311C	probably benign	Het
Bltp2	G	A	11: 78,174,955 (GRCm39)	A1697T	probably benign	Het
Ccdc110	A	T	8: 46,396,536 (GRCm39)	Y809F	possibly damaging	Het
Chaf1a	T	A	17: 56,371,115 (GRCm39)	C667S	probably damaging	Het
Clca3a1	A	T	3: 144,452,636 (GRCm39)	Y616N	probably damaging	Het
Cldn4	A	G	5: 134,975,410 (GRCm39)	C64R	probably damaging	Het
Crybg2	TGGAGGAGGAGGAGGAGGAG	TGGAGGAGGAGGAGGAG	4: 133,801,837 (GRCm39)		probably benign	Het
Dclk2	C	A	3: 86,694,532 (GRCm39)	R752L	possibly damaging	Het
Dzank1	C	A	2: 144,343,409 (GRCm39)	G318W	probably damaging	Het
Edem1	T	A	6: 108,819,923 (GRCm39)	I236K	probably damaging	Het
Eif4e1b	T	C	13: 54,932,635 (GRCm39)	F75L	probably damaging	Het
Elmo3	A	G	8: 106,034,279 (GRCm39)	Y266C	probably damaging	Het
Enpep	A	G	3: 129,092,773 (GRCm39)	S509P	probably damaging	Het
Exoc8	A	G	8: 125,623,392 (GRCm39)	M325T	probably benign	Het
Fah	A	G	7: 84,243,949 (GRCm39)	M270T	probably benign	Het
Gabbr1	T	C	17: 37,378,754 (GRCm39)	L532P	probably damaging	Het
Gm10770	T	A	2: 150,021,320 (GRCm39)	K66*	probably null	Het
Gprc5c	A	T	11: 114,755,313 (GRCm39)	Q330L	possibly damaging	Het
Grin3a	T	A	4: 49,792,602 (GRCm39)	H377L	probably damaging	Het
Hipk3	T	C	2: 104,301,529 (GRCm39)	E221G	probably damaging	Het
Hsd17b6	T	A	10: 127,827,308 (GRCm39)	M255L	probably benign	Het
Ighv1-7	T	A	12: 114,502,379 (GRCm39)	E29D	probably benign	Het
Ing3	T	A	6: 21,971,173 (GRCm39)	S326T	probably benign	Het
Ipo7	T	C	7: 109,648,014 (GRCm39)	L632P	probably damaging	Het
Kdm6b	A	G	11: 69,294,614 (GRCm39)		probably null	Het
Kif21a	T	G	15: 90,820,015 (GRCm39)	D1583A	probably damaging	Het
Lama2	C	T	10: 27,066,672 (GRCm39)	V1070I	probably benign	Het
Lrp1	A	T	10: 127,419,770 (GRCm39)	S946R	probably damaging	Het
Lrrc37a	A	G	11: 103,389,897 (GRCm39)	S1843P	possibly damaging	Het
Ltbp1	T	C	17: 75,597,078 (GRCm39)	Y517H	probably damaging	Het
Map2k4	T	A	11: 65,600,778 (GRCm39)	N51I	probably benign	Het
Mfsd2b	G	T	12: 4,916,522 (GRCm39)	A216D	probably damaging	Het
Nbea	T	C	3: 55,761,268 (GRCm39)	T2025A	probably benign	Het
Neb	A	G	2: 52,106,928 (GRCm39)	V4162A	possibly damaging	Het
Nr3c1	A	T	18: 39,554,602 (GRCm39)	F599I	probably damaging	Het
Nsun2	T	G	13: 69,771,271 (GRCm39)		probably null	Het
Or10ab4	T	A	7: 107,655,005 (GRCm39)	M272K	possibly damaging	Het
Or8b37	G	T	9: 37,958,997 (GRCm39)	V160F	possibly damaging	Het
Otoa	T	A	7: 120,726,936 (GRCm39)	W524R	probably benign	Het
Paip1	T	A	13: 119,593,533 (GRCm39)	D182E	probably damaging	Het
Pde1a	G	A	2: 79,698,586 (GRCm39)	Q415*	probably null	Het
Pfkfb2	T	A	1: 130,635,816 (GRCm39)	K72*	probably null	Het
Pigg	A	G	5: 108,480,057 (GRCm39)	E444G	probably null	Het
Plec	T	C	15: 76,073,237 (GRCm39)	Y669C	probably damaging	Het
Ptp4a3	T	C	15: 73,627,885 (GRCm39)	V94A	possibly damaging	Het
Ptprg	A	G	14: 12,211,625 (GRCm38)	E969G	probably damaging	Het
R3hcc1l	T	A	19: 42,551,789 (GRCm39)	V262E	probably benign	Het
Ranbp3l	T	G	15: 9,030,916 (GRCm39)	F65C	possibly damaging	Het
Rbm19	T	A	5: 120,278,372 (GRCm39)	S718R	probably benign	Het
Recql4	C	A	15: 76,593,624 (GRCm39)	R162L	probably benign	Het
Rest	T	C	5: 77,416,119 (GRCm39)	L111P	probably benign	Het
Rgma	T	C	7: 73,059,216 (GRCm39)	S13P	probably damaging	Het
Rogdi	T	A	16: 4,831,175 (GRCm39)	I31F	probably benign	Het
Serpinb9e	T	A	13: 33,439,112 (GRCm39)	D179E	probably benign	Het
Slc1a5	T	C	7: 16,529,807 (GRCm39)	C409R	probably damaging	Het
Slc25a38	A	G	9: 119,945,613 (GRCm39)	T38A	probably damaging	Het
Spag17	C	T	3: 100,003,107 (GRCm39)	Q1897*	probably null	Het
St7	C	A	6: 17,694,221 (GRCm39)	A4E	possibly damaging	Het
Tbcel	T	A	9: 42,350,499 (GRCm39)	I263F	possibly damaging	Het
Tmtc3	A	G	10: 100,312,534 (GRCm39)	V103A	probably benign	Het
Tnc	G	A	4: 63,936,403 (GRCm39)	P178S	probably benign	Het
Vwf	A	G	6: 125,580,426 (GRCm39)	D558G		Het
Zfp541	A	G	7: 15,810,344 (GRCm39)	K127R	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
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'- GGACAGATAAGACGGTCTTACAATG -3'
(R):5'- CTAGATGTCACAAGGCAGGG -3'

Sequencing Primer
(F):5'- CGGTCTTACAATGAATTCACTGACC -3'
(R):5'- TCACAAGGCAGGGTGGTACC -3'

Posted On

2017-03-31