Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01808:H2ax'

155745

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H2ax

Ensembl Gene

ENSMUSG00000049932

Gene Name

H2A.X variant histone

Synonyms

gammaH2ax, Hist5-2ax, H2A.X, H2afx

Accession Numbers

Essential gene?

Probably essential (E-score: 0.927) question?

Stock #

IGL01808

Quality Score

Status

Chromosome

Chromosomal Location

44246012-44247374 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44246246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 63 (I63T)

Ref Sequence

ENSEMBL: ENSMUSP00000051432 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052686] [ENSMUST00000054708] [ENSMUST00000077353] [ENSMUST00000097558] [ENSMUST00000216852] [ENSMUST00000215050]

AlphaFold

P27661

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052686
AA Change: I63T

PolyPhen 2 Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000051432
Gene: ENSMUSG00000049932
AA Change: I63T

Domain	Start	End	E-Value	Type
H2A	3	123	1.64e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000054708

SMART Domains

Protein: ENSMUSP00000056282
Gene: ENSMUSG00000032123

Domain	Start	End	E-Value	Type
transmembrane domain	10	32	N/A	INTRINSIC
transmembrane domain	60	82	N/A	INTRINSIC
Pfam:Glycos_transf_4	100	272	1.1e-38	PFAM
transmembrane domain	277	299	N/A	INTRINSIC
transmembrane domain	381	403	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000077353

SMART Domains

Protein: ENSMUSP00000076575
Gene: ENSMUSG00000032126

Domain	Start	End	E-Value	Type
Pfam:Porphobil_deam	21	233	1.7e-79	PFAM
Pfam:Porphobil_deamC	244	323	6.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000097558

SMART Domains

Protein: ENSMUSP00000095166
Gene: ENSMUSG00000032126

Domain	Start	End	E-Value	Type
Pfam:Porphobil_deam	3	219	3.9e-95	PFAM
Pfam:Porphobil_deamC	227	327	4.7e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196879

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213709

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215859

Predicted Effect

probably benign
Transcript: ENSMUST00000216658

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214967

Predicted Effect

probably benign
Transcript: ENSMUST00000216852

Predicted Effect

probably benign
Transcript: ENSMUST00000215050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214012

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 encodes a replication-independent histone that is a member of the histone H2A family. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice are smaller and display increased susceptibility to ionizing radiation, male infertility, T and B cell abnormalities, and increased genomic instability. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ager	A	T	17: 34,818,431 (GRCm39)	Q266L	probably damaging	Het
Amz1	A	G	5: 140,727,034 (GRCm39)		probably benign	Het
Ebf2	C	T	14: 67,651,932 (GRCm39)	A488V	probably benign	Het
Gm5885	A	T	6: 133,508,181 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,140,490 (GRCm39)	S220P	probably damaging	Het
Gpr171	G	A	3: 59,005,572 (GRCm39)	P68S	probably damaging	Het
H2-M9	A	T	17: 36,952,711 (GRCm39)		probably null	Het
Igsf9	T	C	1: 172,312,370 (GRCm39)	V27A	probably benign	Het
Kcnh6	G	T	11: 105,914,753 (GRCm39)		probably benign	Het
Mapkbp1	A	G	2: 119,853,650 (GRCm39)		probably null	Het
Mllt6	C	A	11: 97,563,310 (GRCm39)	H298N	possibly damaging	Het
Mtmr3	A	G	11: 4,447,404 (GRCm39)	I352T	probably damaging	Het
Mtrr	T	C	13: 68,714,212 (GRCm39)	D509G	probably benign	Het
Ncan	C	T	8: 70,560,090 (GRCm39)		probably null	Het
Or51aa2	T	A	7: 103,187,781 (GRCm39)	Y220F	probably damaging	Het
Pcdhb4	T	C	18: 37,442,067 (GRCm39)	V459A	probably damaging	Het
Phrf1	C	A	7: 140,840,879 (GRCm39)	P1274Q	probably damaging	Het
Slc4a2	T	C	5: 24,645,205 (GRCm39)	L1125P	probably damaging	Het
Synpo	T	C	18: 60,735,280 (GRCm39)	I650V	probably benign	Het
Tsc1	G	A	2: 28,552,519 (GRCm39)	R86H	probably damaging	Het
Ugt2a3	A	G	5: 87,473,414 (GRCm39)	V501A	probably benign	Het
Vmn1r203	T	C	13: 22,708,717 (GRCm39)	I166T	probably benign	Het
Vps13a	A	G	19: 16,687,650 (GRCm39)	C933R	probably damaging	Het
Zfp142	A	T	1: 74,615,184 (GRCm39)	F342Y	probably damaging	Het

Other mutations in H2ax

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R5506:H2ax	UTSW	9	44,246,402 (GRCm39)	missense	probably benign	0.00
R6564:H2ax	UTSW	9	44,246,209 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-02-04