Mutagenetix > Incidental Mutation

Incidental Mutation 'R0456:H4c6'

40043

Institutional Source

Beutler Lab

Gene Symbol

H4c6

Ensembl Gene

ENSMUSG00000069274

Gene Name

H4 clustered histone 6

Synonyms

Hist1h4f

MMRRC Submission

038656-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R0456 (G1)

Quality Score

207

Status

Not validated

Chromosome

Chromosomal Location

23735460-23735842 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 23735561 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000100036 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045301] [ENSMUST00000102971]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000045301

SMART Domains

Protein: ENSMUSP00000044395
Gene: ENSMUSG00000052565

Domain	Start	End	E-Value	Type
H15	35	100	4.02e-23	SMART
low complexity region	110	221	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000102971
AA Change: D86G

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000100036
Gene: ENSMUSG00000069274
AA Change: D86G

Domain	Start	End	E-Value	Type
H4	16	90	2.59e-29	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 95.1%

Validation Efficiency

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene is intronless and encodes a replication-dependent histone that is a member of the histone H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd29	G	A	18: 12,429,036 (GRCm39)	P11L	probably damaging	Het
Antxr1	A	C	6: 87,194,257 (GRCm39)	V347G	probably damaging	Het
Atp13a5	T	C	16: 29,051,492 (GRCm39)	N1127D	probably benign	Het
Bivm	T	A	1: 44,165,969 (GRCm39)	W140R	probably damaging	Het
Camta1	C	A	4: 151,159,597 (GRCm39)	R1614L	probably damaging	Het
Ceacam5	T	C	7: 17,494,776 (GRCm39)	V928A	possibly damaging	Het
Chia1	T	C	3: 106,035,795 (GRCm39)	Y152H	probably damaging	Het
Chsy3	A	T	18: 59,309,550 (GRCm39)	I268F	probably damaging	Het
CK137956	A	T	4: 127,839,100 (GRCm39)	N439K	probably damaging	Het
Csf3r	C	A	4: 125,929,654 (GRCm39)	N392K	probably damaging	Het
Cyp1b1	T	C	17: 80,017,704 (GRCm39)	I484V	probably benign	Het
Dsc1	T	C	18: 20,232,169 (GRCm39)	K280E	probably damaging	Het
Eefsec	A	G	6: 88,274,870 (GRCm39)	Y365H	probably benign	Het
Epb41l4b	C	T	4: 57,142,843 (GRCm39)		probably null	Het
Erap1	G	A	13: 74,812,339 (GRCm39)	V385I	probably benign	Het
Fat1	A	T	8: 45,482,571 (GRCm39)	I3077F	probably damaging	Het
Fras1	T	G	5: 96,862,202 (GRCm39)		probably null	Het
Fras1	G	T	5: 96,702,647 (GRCm39)	G230C	probably damaging	Het
Gsg1l	A	G	7: 125,522,682 (GRCm39)	M182T	possibly damaging	Het
Gzmg	A	G	14: 56,395,779 (GRCm39)	V60A	probably damaging	Het
Hapln4	A	T	8: 70,537,645 (GRCm39)	Y113F	probably benign	Het
Ikzf4	T	A	10: 128,471,677 (GRCm39)	T274S	probably damaging	Het
Kansl1l	T	A	1: 66,774,885 (GRCm39)	H302L	probably damaging	Het
Klhl41	T	C	2: 69,500,893 (GRCm39)	V118A	probably damaging	Het
Kpna1	T	C	16: 35,823,270 (GRCm39)	S41P	possibly damaging	Het
Krt23	A	G	11: 99,377,604 (GRCm39)	V134A	probably benign	Het
Lamb1	G	A	12: 31,354,729 (GRCm39)	C992Y	probably damaging	Het
Lrif1	C	T	3: 106,639,094 (GRCm39)	P35S	probably benign	Het
Lrrc4	A	G	6: 28,831,103 (GRCm39)	S171P	probably damaging	Het
Lvrn	G	A	18: 46,997,883 (GRCm39)		probably null	Het
Matr3	T	A	18: 35,705,917 (GRCm39)	F281I	probably damaging	Het
Meak7	A	T	8: 120,495,162 (GRCm39)	F199I	probably damaging	Het
Nxn	G	A	11: 76,153,963 (GRCm39)	Q291*	probably null	Het
Or5b113	A	G	19: 13,342,102 (GRCm39)	T37A	probably damaging	Het
Pdp2	G	T	8: 105,320,421 (GRCm39)	R90L	probably damaging	Het
Ppp1r3c	C	A	19: 36,711,291 (GRCm39)	E160*	probably null	Het
Ppp2r5c	T	G	12: 110,489,013 (GRCm39)	S118R	probably damaging	Het
Ptpn23	G	T	9: 110,218,861 (GRCm39)		probably null	Het
Ptpro	G	T	6: 137,391,228 (GRCm39)	V783L	probably benign	Het
Rab40c	A	G	17: 26,103,631 (GRCm39)	V144A	possibly damaging	Het
Rasal2	T	C	1: 156,977,413 (GRCm39)	N1087S	probably damaging	Het
Rfc3	T	A	5: 151,570,988 (GRCm39)	S103C	possibly damaging	Het
Rgl2	A	G	17: 34,155,823 (GRCm39)		probably null	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Rit2	A	T	18: 31,108,504 (GRCm39)	F160L	probably benign	Het
Rnh1	A	G	7: 140,742,461 (GRCm39)	S366P	possibly damaging	Het
Sdk2	T	C	11: 113,682,292 (GRCm39)	Y2029C	possibly damaging	Het
Smpd3	T	A	8: 106,986,288 (GRCm39)	I505F	probably benign	Het
Sorcs3	A	T	19: 48,642,483 (GRCm39)	S379C	possibly damaging	Het
Sult1e1	A	G	5: 87,726,493 (GRCm39)	L207P	possibly damaging	Het
Sycp2	C	G	2: 178,023,648 (GRCm39)	S456T	probably benign	Het
Syne1	T	C	10: 5,292,252 (GRCm39)	T1339A	probably benign	Het
Tas2r117	A	G	6: 132,780,354 (GRCm39)	N164S	probably benign	Het
Tigd3	A	G	19: 5,942,821 (GRCm39)	L103P	probably damaging	Het
Tmem132b	T	C	5: 125,864,788 (GRCm39)	S965P	probably damaging	Het
Tmem82	T	C	4: 141,344,701 (GRCm39)	T81A	probably benign	Het
Tmem8b	A	G	4: 43,685,618 (GRCm39)	T156A	probably benign	Het
Tnfrsf21	A	G	17: 43,348,982 (GRCm39)	E198G	probably benign	Het
Tnpo2	A	G	8: 85,781,045 (GRCm39)	N767S	probably damaging	Het
Trf	T	C	9: 103,104,102 (GRCm39)	Y87C	probably damaging	Het
Tst	A	G	15: 78,289,780 (GRCm39)	V85A	probably damaging	Het
Usp37	A	T	1: 74,507,507 (GRCm39)	N503K	probably damaging	Het
Utp20	C	T	10: 88,590,435 (GRCm39)	M2346I	possibly damaging	Het
Vax2	A	G	6: 83,688,388 (GRCm39)	D37G	probably benign	Het
Vmn1r77	T	A	7: 11,775,665 (GRCm39)	L79*	probably null	Het
Zbtb3	A	T	19: 8,780,564 (GRCm39)	D59V	probably damaging	Het
Zdhhc13	T	C	7: 48,458,602 (GRCm39)	F182S	probably benign	Het
Zfp426	A	G	9: 20,381,593 (GRCm39)	F465L	probably damaging	Het
Zfp526	A	G	7: 24,925,637 (GRCm39)	E632G	probably damaging	Het

Predicted Primers

PCR Primer
(F):5'- GCCGCCATTTTGAACTTTAGGGAC -3'
(R):5'- CAACTCAGTGCTCCATAGCCATGTC -3'

Sequencing Primer
(F):5'- CCATTTTGAACTTTAGGGACAGAAC -3'
(R):5'- TAAGCGCCACCGTAAGGTTC -3'

Posted On

2013-05-23