Mutagenetix > Incidental Mutation

Incidental Mutation 'R2884:H2ac8'

260984

Institutional Source

Beutler Lab

Gene Symbol

H2ac8

Ensembl Gene

ENSMUSG00000069272

Gene Name

H2A clustered histone 8

Synonyms

Hist1h2ae

MMRRC Submission

040472-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R2884 (G1)

Quality Score

121

Status

Not validated

Chromosome

Chromosomal Location

23754837-23755394 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23755047 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 79 (I79T)

Ref Sequence

ENSEMBL: ENSMUSP00000100034 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000079251

SMART Domains

Protein: ENSMUSP00000078239
Gene: ENSMUSG00000058385

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 damaging
Transcript: ENSMUST00000102969
AA Change: I79T

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

SMART Domains

Protein: ENSMUSP00000100034
Gene: ENSMUSG00000069272
AA Change: I79T

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: 95.0%

Validation Efficiency

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 H2A 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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,872,250 (GRCm39)	E59D	possibly damaging	Het
Arhgap27	T	C	11: 103,251,669 (GRCm39)		probably null	Het
BC061237	A	G	14: 44,738,627 (GRCm39)	R9G	possibly damaging	Het
Brsk1	A	G	7: 4,694,122 (GRCm39)		probably benign	Het
Col1a2	G	A	6: 4,518,822 (GRCm39)		probably benign	Het
Cspg4b	G	T	13: 113,505,725 (GRCm39)	A2285S	probably benign	Het
Cspg4b	A	T	13: 113,457,216 (GRCm39)	Q1087H	probably damaging	Het
Dnajb5	A	T	4: 42,957,355 (GRCm39)	D284V	probably damaging	Het
Dnmt3a	A	G	12: 3,946,132 (GRCm39)	D329G	probably damaging	Het
Ecd	C	T	14: 20,370,841 (GRCm39)	G626D	probably damaging	Het
Exoc3l4	A	G	12: 111,394,956 (GRCm39)	D551G	possibly damaging	Het
Fam227b	A	T	2: 125,942,846 (GRCm39)	I317N	probably benign	Het
Fam3c	G	A	6: 22,329,581 (GRCm39)	R49C	probably damaging	Het
Fcrl5	A	G	3: 87,364,698 (GRCm39)	Y566C	probably damaging	Het
Fras1	A	G	5: 96,848,127 (GRCm39)	N1779S	probably benign	Het
Gm19965	T	A	1: 116,749,313 (GRCm39)	N331K	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
H2-DMa	A	G	17: 34,356,121 (GRCm39)	N41S	probably damaging	Het
Habp4	A	T	13: 64,330,080 (GRCm39)	R328S	probably benign	Het
Hexb	C	T	13: 97,320,208 (GRCm39)	G272D	probably damaging	Het
Lilrb4a	A	T	10: 51,367,709 (GRCm39)	N84Y	probably benign	Het
Mtnr1a	A	G	8: 45,540,305 (GRCm39)	T89A	probably benign	Het
Myh13	T	A	11: 67,228,469 (GRCm39)	N336K	probably benign	Het
Naca	T	C	10: 127,877,547 (GRCm39)		probably benign	Het
Naif1	C	T	2: 32,344,887 (GRCm39)	P197L	probably benign	Het
Nprl3	A	G	11: 32,198,163 (GRCm39)	L179P	probably damaging	Het
Nup93	A	G	8: 95,030,266 (GRCm39)	Y375C	probably damaging	Het
Or52b4	A	G	7: 102,184,439 (GRCm39)	I162V	probably benign	Het
Pcdha12	G	A	18: 37,153,757 (GRCm39)	D159N	probably damaging	Het
Plekhs1	G	A	19: 56,459,258 (GRCm39)	G39R	probably benign	Het
Ppp4r3a	T	C	12: 101,034,936 (GRCm39)	E53G	probably damaging	Het
Prss48	A	T	3: 85,904,562 (GRCm39)	M212K	probably benign	Het
Pth	A	T	7: 112,985,235 (GRCm39)	L46Q	probably damaging	Het
Rin2	A	T	2: 145,702,911 (GRCm39)	T536S	probably benign	Het
Setx	T	G	2: 29,038,637 (GRCm39)	C1707W	probably damaging	Het
Stau2	A	T	1: 16,301,290 (GRCm39)	F519Y	possibly damaging	Het
Syne2	T	G	12: 76,010,533 (GRCm39)	V2481G	probably benign	Het
Tpte	C	T	8: 22,825,439 (GRCm39)	Q331*	probably null	Het
Ttn	G	T	2: 76,730,596 (GRCm39)		probably benign	Het
Utrn	A	T	10: 12,615,105 (GRCm39)		probably null	Het
Vmn2r82	A	G	10: 79,232,082 (GRCm39)	I694V	probably benign	Het
Vmn2r88	G	A	14: 51,651,391 (GRCm39)	C235Y	probably damaging	Het
Xrn2	T	A	2: 146,889,576 (GRCm39)	V653E	probably damaging	Het
Znrf3	A	T	11: 5,239,693 (GRCm39)	D58E	probably damaging	Het

Other mutations in H2ac8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1458:H2ac8	UTSW	13	23,755,221 (GRCm39)	unclassified	probably benign
R1546:H2ac8	UTSW	13	23,755,119 (GRCm39)	missense	probably damaging	1.00
R3885:H2ac8	UTSW	13	23,755,053 (GRCm39)	missense	possibly damaging	0.90
R6450:H2ac8	UTSW	13	23,755,119 (GRCm39)	missense	probably damaging	1.00
R9502:H2ac8	UTSW	13	23,755,045 (GRCm39)	missense	probably benign	0.00
R9713:H2ac8	UTSW	13	23,755,041 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGACAATTGACAGGTTGAATTTTC -3'
(R):5'- TGTCTGGACGTGGCAAACAG -3'

Sequencing Primer
(F):5'- GCACTTTACTGAATTAAGTGAATGGC -3'
(R):5'- ACAGGGTGGCAAGGCTC -3'

Posted On

2015-01-23