Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:H2bc13'

75116

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2bc13

Ensembl Gene

ENSMUSG00000094338

Gene Name

H2B clustered histone 13

Synonyms

Hist1h2bl

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

21899933-21900313 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21900064 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 84 (Y84H)

Ref Sequence

ENSEMBL: ENSMUSP00000089350 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070124] [ENSMUST00000091756] [ENSMUST00000188775]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000070124

SMART Domains

Protein: ENSMUSP00000088285
Gene: ENSMUSG00000071516

Domain	Start	End	E-Value	Type
H2A	3	123	8.07e-81	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091756
AA Change: Y84H

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

SMART Domains

Protein: ENSMUSP00000089350
Gene: ENSMUSG00000094338
AA Change: Y84H

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	4.64e-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: ENSMUST00000196836

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,477 (GRCm39)	Y574F	probably benign	Het
Apc	C	T	18: 34,450,723 (GRCm39)	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,206,711 (GRCm39)	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,531,581 (GRCm39)	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,668,818 (GRCm39)	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,822,454 (GRCm39)	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,383,103 (GRCm39)	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,780,838 (GRCm39)	N78S	probably benign	Het
Cnnm4	G	A	1: 36,537,115 (GRCm39)	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,500,978 (GRCm39)	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,545,615 (GRCm39)		probably benign	Het
Dgkg	A	T	16: 22,419,340 (GRCm39)	D53E	probably benign	Het
Dlx3	T	A	11: 95,011,359 (GRCm39)	L71H	probably damaging	Het
Egln2	A	C	7: 26,859,717 (GRCm39)	V332G	probably null	Het
Entpd2	A	G	2: 25,288,746 (GRCm39)	Q250R	probably benign	Het
Epyc	A	G	10: 97,510,593 (GRCm39)	D132G	probably damaging	Het
Fxr2	A	G	11: 69,543,114 (GRCm39)	D637G	probably benign	Het
Gapvd1	A	G	2: 34,596,708 (GRCm39)		probably null	Het
Gbp11	G	A	5: 105,479,194 (GRCm39)		probably benign	Het
Gm17175	A	T	14: 51,808,307 (GRCm39)	C162S	probably damaging	Het
Gm5499	C	T	17: 87,386,339 (GRCm39)		noncoding transcript	Het
Gps1	T	C	11: 120,679,086 (GRCm39)	V378A	probably benign	Het
Grik1	C	T	16: 87,754,481 (GRCm39)	R368Q	probably benign	Het
Gsap	A	G	5: 21,431,318 (GRCm39)	E214G	probably benign	Het
Jdp2	T	C	12: 85,655,020 (GRCm39)	S28P	probably benign	Het
Kif26b	T	C	1: 178,698,240 (GRCm39)	F577S	probably damaging	Het
Kl	G	A	5: 150,904,130 (GRCm39)	G294D	probably damaging	Het
Lgsn	T	A	1: 31,243,041 (GRCm39)	D374E	probably damaging	Het
Lman1	T	C	18: 66,124,681 (GRCm39)	I353V	probably damaging	Het
Lmna	T	C	3: 88,392,270 (GRCm39)	H374R	probably benign	Het
Lrrc57	A	G	2: 120,439,286 (GRCm39)	S31P	probably benign	Het
Lum	T	A	10: 97,404,547 (GRCm39)	N147K	probably damaging	Het
Or6n2	T	C	1: 173,897,632 (GRCm39)	I256T	probably benign	Het
Or7a41	A	G	10: 78,871,445 (GRCm39)	T272A	probably benign	Het
P4ha3	C	A	7: 99,955,140 (GRCm39)	L332I	probably damaging	Het
Pelp1	A	G	11: 70,286,505 (GRCm39)	I541T	probably damaging	Het
Pja2	A	C	17: 64,620,023 (GRCm39)	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,244,268 (GRCm39)	L325P	probably damaging	Het
Robo2	T	C	16: 74,149,744 (GRCm39)	D28G	probably damaging	Het
Rpa1	A	G	11: 75,198,111 (GRCm39)	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,434,645 (GRCm39)	N430S	probably benign	Het
Scg2	T	A	1: 79,414,538 (GRCm39)	I62L	probably benign	Het
Scn5a	T	A	9: 119,391,507 (GRCm39)	K62*	probably null	Het
Sec23ip	T	C	7: 128,364,129 (GRCm39)	V469A	probably benign	Het
Shank1	A	G	7: 43,991,544 (GRCm39)	T663A	unknown	Het
Slco1a7	A	T	6: 141,700,192 (GRCm39)	Y113*	probably null	Het
Stab2	G	T	10: 86,737,567 (GRCm39)		probably null	Het
Tmcc3	T	C	10: 94,418,147 (GRCm39)	L305P	probably damaging	Het
Tmem145	A	G	7: 25,014,260 (GRCm39)	N458S	probably damaging	Het
Tpr	G	A	1: 150,302,738 (GRCm39)	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,703,058 (GRCm39)	F173I	possibly damaging	Het
Wdr17	C	T	8: 55,104,380 (GRCm39)	V898I	probably benign	Het
Wdr64	A	T	1: 175,547,899 (GRCm39)	L145F	probably benign	Het
Wnt10b	A	G	15: 98,674,826 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,298,957 (GRCm39)		probably null	Het

Other mutations in H2bc13

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0482:H2bc13	UTSW	13	21,900,295 (GRCm39)	unclassified	probably benign
R1341:H2bc13	UTSW	13	21,900,280 (GRCm39)	missense	probably benign	0.09
R1355:H2bc13	UTSW	13	21,900,027 (GRCm39)	missense	probably damaging	1.00
R4793:H2bc13	UTSW	13	21,900,088 (GRCm39)	missense	probably benign	0.00
R4816:H2bc13	UTSW	13	21,900,135 (GRCm39)	missense	probably benign	0.32
R4842:H2bc13	UTSW	13	21,900,234 (GRCm39)	unclassified	probably benign
R4917:H2bc13	UTSW	13	21,900,189 (GRCm39)	missense	probably damaging	0.97
R5355:H2bc13	UTSW	13	21,900,030 (GRCm39)	missense	probably damaging	1.00
R6036:H2bc13	UTSW	13	21,900,148 (GRCm39)	missense	probably damaging	0.99
R6036:H2bc13	UTSW	13	21,900,148 (GRCm39)	missense	probably damaging	0.99
R7546:H2bc13	UTSW	13	21,900,040 (GRCm39)	missense	probably benign	0.19
R7972:H2bc13	UTSW	13	21,899,977 (GRCm39)	missense	possibly damaging	0.60
R8546:H2bc13	UTSW	13	21,900,042 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07