Mutagenetix > Incidental Mutation

Incidental Mutation 'R5582:H3f3a'

438484

Institutional Source

Beutler Lab

Gene Symbol

H3f3a

Ensembl Gene

ENSMUSG00000060743

Gene Name

H3.3 histone A

Synonyms

H3.3A, H3-3a

MMRRC Submission

043136-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.453) question?

Stock #

R5582 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

180630125-180641127 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 180637650 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125104 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081026] [ENSMUST00000159685] [ENSMUST00000159789] [ENSMUST00000161308] [ENSMUST00000162814] [ENSMUST00000162118]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000081026

SMART Domains

Protein: ENSMUSP00000079816
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
H3	34	135	2.77e-70	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000097448

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159441

Predicted Effect

probably benign
Transcript: ENSMUST00000159685

SMART Domains

Protein: ENSMUSP00000124040
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
PDB:4HGA\|B	1	52	7e-30	PDB
Blast:H3	8	52	9e-23	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159740

Predicted Effect

probably benign
Transcript: ENSMUST00000159789

SMART Domains

Protein: ENSMUSP00000125754
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
H3	34	119	8.9e-51	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000161308

SMART Domains

Protein: ENSMUSP00000124509
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
H3	34	136	4.79e-74	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181811

Predicted Effect

probably benign
Transcript: ENSMUST00000162814

SMART Domains

Protein: ENSMUSP00000125104
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
H3	34	136	4.79e-74	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162118

SMART Domains

Protein: ENSMUSP00000123946
Gene: ENSMUSG00000060743

Domain	Start	End	E-Value	Type
PDB:4HGA\|B	1	55	3e-32	PDB
Blast:H3	8	52	1e-22	BLAST
SCOP:d1hq3c_	42	55	9e-5	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.6%

Validation Efficiency

98% (61/62)

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 contains introns and its mRNA is polyadenylated, unlike most histone genes. The protein encoded is a replication-independent member of the histone H3 family. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutants for a hypomorphic gene trap allele display partial neonatal lethality, reduced fertility, growth abnormalities and neuromuscular defects. Mice homozygous for a reporter allele exhibit reduced body size and male fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	C	11: 9,586,639 (GRCm39)		probably null	Het
Agxt2	A	G	15: 10,399,245 (GRCm39)	D444G	probably damaging	Het
Aldh1b1	G	T	4: 45,802,750 (GRCm39)	R96L	probably damaging	Het
Ank2	T	C	3: 126,739,954 (GRCm39)		probably benign	Het
Apob	A	G	12: 8,060,788 (GRCm39)	Y3090C	probably damaging	Het
Bbx	A	G	16: 50,043,719 (GRCm39)	S647P	probably damaging	Het
Brinp2	T	C	1: 158,076,979 (GRCm39)	Y372C	probably damaging	Het
Btaf1	T	C	19: 36,965,573 (GRCm39)		probably null	Het
Cdk5rap1	T	A	2: 154,187,894 (GRCm39)	E477D	probably benign	Het
Cfap65	G	A	1: 74,946,677 (GRCm39)		probably benign	Het
Chdh	A	G	14: 29,758,816 (GRCm39)	Y587C	probably damaging	Het
Chek2	T	C	5: 111,015,901 (GRCm39)	V472A	probably damaging	Het
Clasrp	A	C	7: 19,320,781 (GRCm39)	I326S	probably damaging	Het
Clic6	A	T	16: 92,296,342 (GRCm39)	Q334L	possibly damaging	Het
Cyp2d11	A	T	15: 82,276,319 (GRCm39)		probably null	Het
Entpd7	T	C	19: 43,693,433 (GRCm39)	I171T	probably damaging	Het
Fosl1	T	C	19: 5,505,295 (GRCm39)		probably benign	Het
Gm6124	A	G	7: 38,869,622 (GRCm39)		noncoding transcript	Het
Hs1bp3	AGAGGAGGAGGAGGAGGAGGAGGAGGAGG	AGAGGAGGAGGAGGAGGAGGAGGAGG	12: 8,374,048 (GRCm39)		probably benign	Het
Idh2	CCAGGGC	CC	7: 79,748,087 (GRCm39)		probably null	Het
Igkv3-7	A	G	6: 70,584,990 (GRCm39)	Y110C	probably damaging	Het
Ints9	C	T	14: 65,266,345 (GRCm39)	T399M	possibly damaging	Het
Kctd19	G	A	8: 106,135,075 (GRCm39)	T62M	probably damaging	Het
Lsmem1	A	G	12: 40,230,643 (GRCm39)		probably null	Het
Obscn	T	C	11: 58,990,802 (GRCm39)		probably null	Het
Or11h23	T	C	14: 50,948,425 (GRCm39)	Y213H	probably damaging	Het
Or1j12	T	C	2: 36,343,233 (GRCm39)	I212T	probably benign	Het
Otop3	T	A	11: 115,230,165 (GRCm39)	M14K	unknown	Het
Pibf1	C	T	14: 99,374,566 (GRCm39)	A335V	possibly damaging	Het
Pkd1l2	A	T	8: 117,767,522 (GRCm39)	L1256*	probably null	Het
Plbd2	T	C	5: 120,631,171 (GRCm39)	E202G	probably benign	Het
Ppp1r37	A	G	7: 19,266,219 (GRCm39)	S516P	probably damaging	Het
Ppt2	G	A	17: 34,836,373 (GRCm39)	T229M	probably damaging	Het
Prr14	A	T	7: 127,075,569 (GRCm39)	I526F	probably damaging	Het
Scel	T	C	14: 103,820,575 (GRCm39)		probably benign	Het
Scn9a	A	T	2: 66,395,373 (GRCm39)		probably benign	Het
Senp6	T	A	9: 79,997,158 (GRCm39)	D57E	possibly damaging	Het
Setd5	T	C	6: 113,091,886 (GRCm39)	Y217H	probably damaging	Het
Sgcg	T	C	14: 61,462,754 (GRCm39)	T198A	probably damaging	Het
Sipa1	C	T	19: 5,704,729 (GRCm39)	G622D	probably benign	Het
Slc27a2	C	T	2: 126,406,610 (GRCm39)	A98V	probably damaging	Het
Slitrk3	G	T	3: 72,957,737 (GRCm39)	P345Q	probably benign	Het
Slx4	T	C	16: 3,803,652 (GRCm39)	D1054G	possibly damaging	Het
Sned1	A	T	1: 93,210,083 (GRCm39)	T898S	probably damaging	Het
Tg	C	T	15: 66,565,284 (GRCm39)	P1209S	probably damaging	Het
Tmem63b	C	A	17: 45,978,689 (GRCm39)	V294L	probably benign	Het
Tnks	G	A	8: 35,408,015 (GRCm39)	R238C	probably benign	Het
Tsn	G	A	1: 118,232,944 (GRCm39)	T120I	probably damaging	Het
Txnrd1	T	A	10: 82,731,814 (GRCm39)	F479I	possibly damaging	Het
Ubr1	T	C	2: 120,745,888 (GRCm39)	M849V	probably benign	Het
Usp13	T	C	3: 32,965,738 (GRCm39)	S574P	probably damaging	Het
Vmn1r69	A	G	7: 10,314,435 (GRCm39)	Y20H	probably damaging	Het
Zfp1001	T	C	2: 150,204,972 (GRCm39)		probably benign	Het
Zfp780b	T	A	7: 27,664,252 (GRCm39)	N101I	probably damaging	Het

Other mutations in H3f3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2297:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R2298:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R2299:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R2300:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R2351:H3f3a	UTSW	1	180,637,723 (GRCm39)	missense	probably benign
R2895:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R4052:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R4208:H3f3a	UTSW	1	180,630,703 (GRCm39)	missense	probably benign	0.00
R4455:H3f3a	UTSW	1	180,630,668 (GRCm39)	missense	probably benign	0.00
R7870:H3f3a	UTSW	1	180,639,490 (GRCm39)	start codon destroyed	probably null	0.61
R9128:H3f3a	UTSW	1	180,630,660 (GRCm39)	missense	possibly damaging	0.95
R9678:H3f3a	UTSW	1	180,637,680 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCATTAGGCTTTTGAACCAATTAGG -3'
(R):5'- CTCCGTGAAATCAGACGCTATC -3'

Sequencing Primer
(F):5'- ATCTTACTTTGGAGACCAGGC -3'
(R):5'- GCTATCAGAAGTCCACTGAACTTCTG -3'

Posted On

2016-10-26