Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00230:Hist1h2bm'

306809

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Hist1h2bm

Ensembl Gene

ENSMUSG00000114279

Gene Name

histone cluster 1, H2bm

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.150) question?

Stock #

IGL00230

Quality Score

Status

Chromosome

Chromosomal Location

21722044-21722567 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 21722375 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 93 (R93L)

Ref Sequence

ENSEMBL: ENSMUSP00000153457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000110476] [ENSMUST00000188775] [ENSMUST00000224651]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000091710

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110476
AA Change: R93L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106102
Gene: ENSMUSG00000069303
AA Change: R93L

Domain	Start	End	E-Value	Type
low complexity region	6	18	N/A	INTRINSIC
H2B	28	124	1.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000188775

SMART Domains

Protein: ENSMUSP00000140394
Gene: ENSMUSG00000101355

Domain	Start	End	E-Value	Type
H3	34	136	1.5e-75	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000195897

Predicted Effect

possibly damaging
Transcript: ENSMUST00000224651
AA Change: R93L

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

Coding Region Coverage

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 H2B 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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bin1	C	T	18: 32,420,107	A215V	probably damaging	Het
Cyp2j6	C	T	4: 96,536,046	R158H	possibly damaging	Het
Dnaaf2	T	C	12: 69,196,766	D507G	probably benign	Het
Fam13b	T	C	18: 34,487,096	E245G	possibly damaging	Het
Gal3st1	A	T	11: 3,999,070		probably benign	Het
Galnt5	A	T	2: 57,998,973	Q195L	probably benign	Het
Gfm2	A	G	13: 97,155,442	T229A	probably benign	Het
Gigyf1	A	G	5: 137,522,745		probably benign	Het
Gm4353	G	T	7: 116,083,554	T264K	probably damaging	Het
Gsk3b	A	T	16: 38,228,707	I389F	probably benign	Het
Htt	A	G	5: 34,799,408	T194A	probably benign	Het
Ighg3	T	C	12: 113,359,837	Y273C	unknown	Het
Kdm5b	T	A	1: 134,620,955	V1066D	probably damaging	Het
Kif1a	G	T	1: 93,054,934	A707E	probably damaging	Het
Maats1	A	G	16: 38,336,342		probably null	Het
Mars	A	G	10: 127,298,006	M674T	probably benign	Het
Mas1	T	C	17: 12,841,990	D182G	probably benign	Het
Metap1d	T	A	2: 71,512,162	D178E	probably damaging	Het
Nhsl1	T	A	10: 18,527,609	D1329E	probably benign	Het
Ninl	T	C	2: 150,966,241	E289G	probably damaging	Het
Pmel	G	T	10: 128,716,089	G264V	possibly damaging	Het
Ruvbl1	T	C	6: 88,484,403		probably benign	Het
Scn8a	T	A	15: 100,955,532		probably benign	Het
Sept9	T	C	11: 117,354,804		probably benign	Het
Sgpp1	G	T	12: 75,716,194	Y404*	probably null	Het
Sgsm1	T	C	5: 113,245,064	I788V	probably benign	Het
Slc13a4	A	T	6: 35,289,824	M112K	probably benign	Het
Slc22a29	T	C	19: 8,217,813	M153V	probably benign	Het
Slc9c1	T	G	16: 45,573,389	V565G	possibly damaging	Het
Sox4	C	A	13: 28,952,973	G17W	probably damaging	Het
Tec	C	T	5: 72,768,768	A314T	probably damaging	Het
Tg	A	G	15: 66,827,290	I803V	probably benign	Het
Trav9-1	A	T	14: 53,488,393	I55F	probably benign	Het
Ttll12	C	A	15: 83,578,656	E536D	probably benign	Het
Ubqln1	C	A	13: 58,177,992	E152*	probably null	Het
Wwtr1	G	A	3: 57,463,491	T338I	probably benign	Het
Zdhhc16	T	C	19: 41,939,660	F206S	probably benign	Het

Other mutations in Hist1h2bm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Hist1h2bm	APN	13	21722140	missense	possibly damaging	0.93
IGL02890:Hist1h2bm	APN	13	21722186	missense	probably benign
IGL03397:Hist1h2bm	APN	13	21722381	missense	possibly damaging	0.81
R5910:Hist1h2bm	UTSW	13	21722300	missense	probably benign
R8158:Hist1h2bm	UTSW	13	21722461	missense	probably benign	0.01

Posted On

2015-04-16