Mutagenetix > Incidental Mutation

Incidental Mutation 'R3625:H2bc8'

269386

Institutional Source

Beutler Lab

Gene Symbol

H2bc8

Ensembl Gene

ENSMUSG00000058385

Gene Name

H2B clustered histone 8

Synonyms

Hist1h2bg

MMRRC Submission

040679-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R3625 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23755574-23756037 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 23755625 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000100738 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079251] [ENSMUST00000090776] [ENSMUST00000102969] [ENSMUST00000105105] [ENSMUST00000105106]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000079251
AA Change: S7P

SMART Domains

Protein: ENSMUSP00000078239
Gene: ENSMUSG00000058385
AA Change: S7P

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	1.43e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000090776

SMART Domains

Protein: ENSMUSP00000088281
Gene: ENSMUSG00000071478

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102969

SMART Domains

Protein: ENSMUSP00000100034
Gene: ENSMUSG00000069272

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

Predicted Effect

probably benign
Transcript: ENSMUST00000105105

SMART Domains

Protein: ENSMUSP00000100737
Gene: ENSMUSG00000099583

Domain	Start	End	E-Value	Type
H3	34	136	2.12e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105106

SMART Domains

Protein: ENSMUSP00000100738
Gene: ENSMUSG00000069268

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	4.64e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199558

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200671

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

100% (40/40)

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin 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; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	T	C	7: 143,425,591 (GRCm39)	V80A	possibly damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg3	T	A	16: 44,995,624 (GRCm39)	I119N	probably benign	Het
Cdh12	G	C	15: 21,358,842 (GRCm39)	V89L	probably damaging	Het
Cdh3	C	A	8: 107,270,310 (GRCm39)	H396N	probably damaging	Het
Crygs	C	T	16: 22,624,301 (GRCm39)	G102D	possibly damaging	Het
Dab2ip	C	A	2: 35,533,903 (GRCm39)	S43*	probably null	Het
Dmxl2	A	G	9: 54,300,927 (GRCm39)	S2394P	probably benign	Het
F13a1	T	G	13: 37,082,067 (GRCm39)	N546H	probably benign	Het
Fbn2	T	C	18: 58,194,814 (GRCm39)	N1449S	probably damaging	Het
Flywch1	T	C	17: 23,979,175 (GRCm39)		probably benign	Het
Grxcr2	T	A	18: 42,131,883 (GRCm39)	D62V	probably damaging	Het
Ifnab	A	T	4: 88,609,016 (GRCm39)	I150N	probably damaging	Het
Igsf8	T	C	1: 172,145,336 (GRCm39)	V284A	probably benign	Het
Kdm1a	T	C	4: 136,288,419 (GRCm39)	E388G	possibly damaging	Het
Map3k8	G	A	18: 4,333,965 (GRCm39)	R376C	probably damaging	Het
Map6	A	T	7: 98,918,402 (GRCm39)	T189S	possibly damaging	Het
Mms22l	T	A	4: 24,505,357 (GRCm39)	S206T	probably damaging	Het
N4bp1	A	G	8: 87,578,337 (GRCm39)	L676S	probably damaging	Het
Nkx6-2	A	G	7: 139,162,106 (GRCm39)	F117S	possibly damaging	Het
Ociad2	C	T	5: 73,481,173 (GRCm39)	C72Y	probably damaging	Het
Or10w1	T	A	19: 13,632,346 (GRCm39)	C184*	probably null	Het
Or52e15	A	T	7: 104,645,191 (GRCm39)	F307I	probably benign	Het
Pcdhb6	G	T	18: 37,469,193 (GRCm39)	V21L	probably damaging	Het
Pogk	G	A	1: 166,231,081 (GRCm39)	T82I	probably damaging	Het
Pramel51	T	C	12: 88,142,731 (GRCm39)	S296G	probably benign	Het
Prkcsh	A	G	9: 21,922,548 (GRCm39)	E283G	probably null	Het
Prkd3	C	T	17: 79,292,733 (GRCm39)	R113H	probably damaging	Het
Rabgef1	T	C	5: 130,240,961 (GRCm39)		probably null	Het
Rec8	T	C	14: 55,859,954 (GRCm39)	I234T	possibly damaging	Het
Sim1	A	T	10: 50,857,432 (GRCm39)	H394L	probably benign	Het
Thy1	A	G	9: 43,958,028 (GRCm39)	E52G	probably damaging	Het
Trav14n-3	A	T	14: 53,607,543 (GRCm39)	I4F	probably damaging	Het
Trim15	T	C	17: 37,177,768 (GRCm39)	T76A	possibly damaging	Het
Ttn	A	G	2: 76,599,145 (GRCm39)	I19288T	probably damaging	Het
Vmn1r6	C	T	6: 56,979,920 (GRCm39)	T172I	probably damaging	Het
Vmn2r52	A	T	7: 9,893,105 (GRCm39)	L678Q	probably damaging	Het
Vpreb1a	T	C	16: 16,686,668 (GRCm39)	H74R	probably benign	Het
Yeats4	T	C	10: 117,056,273 (GRCm39)	I100V	probably benign	Het
Zfp36	C	A	7: 28,077,681 (GRCm39)	A76S	probably benign	Het

Other mutations in H2bc8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02254:H2bc8	APN	13	23,755,609 (GRCm39)	start codon destroyed	probably null
IGL02256:H2bc8	APN	13	23,755,609 (GRCm39)	start codon destroyed	probably null
IGL02258:H2bc8	APN	13	23,755,609 (GRCm39)	start codon destroyed	probably null
PIT4508001:H2bc8	UTSW	13	23,755,867 (GRCm39)	unclassified	probably benign
R7295:H2bc8	UTSW	13	23,755,943 (GRCm39)	missense	probably benign	0.44
R7506:H2bc8	UTSW	13	23,755,658 (GRCm39)	missense	unknown
R8050:H2bc8	UTSW	13	23,755,841 (GRCm39)	missense	probably damaging	1.00
R8499:H2bc8	UTSW	13	23,755,880 (GRCm39)	missense	probably benign	0.06
R9189:H2bc8	UTSW	13	23,755,761 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TATCTTTCCTCTGCAGCCAATAAGG -3'
(R):5'- CACGAACGAGTTCATGATGCC -3'

Sequencing Primer
(F):5'- TTCCTCTGCAGCCAATAAGGAAAGAG -3'
(R):5'- CCATGGCCTTGGAGGAGATG -3'

Posted On

2015-02-19