Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02505:Macroh2a1'

296288

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Macroh2a1

Ensembl Gene

ENSMUSG00000015937

Gene Name

macroH2A.1 histone

Synonyms

mH2a1, MACROH2A1.2, H2AF12M, H2afy

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02505

Quality Score

Status

Chromosome

Chromosomal Location

56221435-56283439 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 56222143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 336 (V336A)

Ref Sequence

ENSEMBL: ENSMUSP00000038221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000016081] [ENSMUST00000045788]

AlphaFold

Q9QZQ8

Predicted Effect

probably benign
Transcript: ENSMUST00000016081
AA Change: V339A

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
AA Change: V339A

Domain	Start	End	E-Value	Type
H2A	1	120	3.52e-72	SMART
low complexity region	130	163	N/A	INTRINSIC
A1pp	196	330	2.72e-28	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000045788
AA Change: V336A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
AA Change: V336A

Domain	Start	End	E-Value	Type
H2A	1	120	3.52e-72	SMART
low complexity region	130	163	N/A	INTRINSIC
A1pp	196	327	4.88e-39	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137835

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141589

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225993

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. 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 encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile and display no gross phenotypic abnormalities. Mice homozygous for a different knock-out allele exhibit female-specific hepatic steatosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aagab	C	A	9: 63,524,096 (GRCm39)	L68M	probably damaging	Het
Abca13	T	G	11: 9,531,498 (GRCm39)	L4575W	probably damaging	Het
Abcb11	A	T	2: 69,076,105 (GRCm39)	V1201D	probably damaging	Het
Aldoa	G	T	7: 126,395,166 (GRCm39)	A252E	probably damaging	Het
Ap1b1	C	T	11: 4,981,700 (GRCm39)	A536V	probably benign	Het
Arhgef3	A	G	14: 27,115,957 (GRCm39)	H233R	possibly damaging	Het
Arhgef40	A	T	14: 52,238,320 (GRCm39)	E1266D	probably damaging	Het
Atp1a4	C	T	1: 172,062,642 (GRCm39)	V622M	probably damaging	Het
Aup1	A	G	6: 83,032,258 (GRCm39)	T142A	probably benign	Het
Bcl6	A	T	16: 23,796,319 (GRCm39)	I36N	probably damaging	Het
Best1	A	G	19: 9,966,514 (GRCm39)	S358P	probably damaging	Het
Cadps	T	G	14: 12,449,759 (GRCm38)	Q1150P	probably damaging	Het
Capn5	T	A	7: 97,780,403 (GRCm39)	E322D	possibly damaging	Het
Cd300ld2	A	T	11: 114,904,513 (GRCm39)	M118K	probably benign	Het
Cdh9	T	C	15: 16,856,075 (GRCm39)	L705P	probably damaging	Het
Cep170b	T	G	12: 112,709,504 (GRCm39)	N436K	probably damaging	Het
Chil6	T	A	3: 106,313,278 (GRCm39)	I24F	probably benign	Het
Chmp2a	T	A	7: 12,767,782 (GRCm39)	K48*	probably null	Het
Col19a1	C	T	1: 24,339,665 (GRCm39)		probably benign	Het
Cops7b	C	A	1: 86,520,043 (GRCm39)	Q65K	probably benign	Het
Cyp2e1	T	A	7: 140,349,069 (GRCm39)	L133H	probably damaging	Het
Dkc1	T	C	X: 74,152,339 (GRCm39)		probably benign	Het
Erlec1	A	G	11: 30,900,767 (GRCm39)	Y134H	probably damaging	Het
F8	C	A	X: 74,423,204 (GRCm39)		probably benign	Het
Fus	G	A	7: 127,580,679 (GRCm39)	R252Q	possibly damaging	Het
Fzd3	A	T	14: 65,490,555 (GRCm39)	D9E	probably benign	Het
Gm15821	T	C	17: 34,433,259 (GRCm39)		probably benign	Het
Gm5117	C	A	8: 32,228,344 (GRCm39)		noncoding transcript	Het
H2-Q6	A	G	17: 35,644,152 (GRCm39)	I45V	probably benign	Het
Hectd1	A	G	12: 51,847,496 (GRCm39)		probably null	Het
Ifi204	T	C	1: 173,583,220 (GRCm39)	K333E	probably benign	Het
Ildr1	G	A	16: 36,536,526 (GRCm39)	G185D	probably damaging	Het
Itgb2	G	A	10: 77,383,052 (GRCm39)	D141N	probably damaging	Het
Kdm1b	G	T	13: 47,214,331 (GRCm39)	D226Y	probably damaging	Het
Krt77	A	G	15: 101,769,381 (GRCm39)	L460P	probably damaging	Het
Lamp3	A	G	16: 19,474,207 (GRCm39)	I389T	possibly damaging	Het
Mars1	C	A	10: 127,140,113 (GRCm39)	E414*	probably null	Het
Mpg	T	C	11: 32,180,042 (GRCm39)	V190A	probably damaging	Het
Myh15	A	G	16: 48,937,626 (GRCm39)	I742M	possibly damaging	Het
Nell2	A	T	15: 95,194,144 (GRCm39)		probably benign	Het
Nmur1	T	C	1: 86,314,057 (GRCm39)	D370G	probably benign	Het
Npsr1	A	G	9: 24,009,578 (GRCm39)	E28G	probably benign	Het
Or52r1	T	C	7: 102,536,814 (GRCm39)	E182G	probably damaging	Het
Or56a3	A	T	7: 104,735,540 (GRCm39)	I206L	probably benign	Het
Or7a42	G	T	10: 78,791,767 (GRCm39)	V243F	probably benign	Het
Or8b12c	G	A	9: 37,715,627 (GRCm39)	C140Y	probably benign	Het
Pdzrn3	T	C	6: 101,128,899 (GRCm39)	N589S	possibly damaging	Het
Pkd1l3	T	C	8: 110,359,848 (GRCm39)	L901P	probably damaging	Het
Plekhg1	G	T	10: 3,907,139 (GRCm39)	K685N	probably damaging	Het
Prim1	T	A	10: 127,865,652 (GRCm39)	*419R	probably null	Het
Ptk2b	G	T	14: 66,391,692 (GRCm39)	N905K	probably damaging	Het
Rbm34	T	C	8: 127,676,071 (GRCm39)	I395V	probably benign	Het
Rfx1	A	G	8: 84,822,438 (GRCm39)	E912G	possibly damaging	Het
Rngtt	T	C	4: 33,337,936 (GRCm39)	V253A	possibly damaging	Het
Slc2a9	A	G	5: 38,594,002 (GRCm39)	Y169H	possibly damaging	Het
Slc49a4	G	T	16: 35,555,928 (GRCm39)	D177E	probably benign	Het
Susd4	C	A	1: 182,719,645 (GRCm39)	T420K	probably benign	Het
Tdrd3	G	A	14: 87,749,118 (GRCm39)	G676D	probably damaging	Het
Tec	T	C	5: 72,946,587 (GRCm39)	K47E	probably damaging	Het
Tenm2	C	A	11: 35,942,743 (GRCm39)	G1308*	probably null	Het
Tmprss15	A	T	16: 78,784,629 (GRCm39)	D675E	probably benign	Het
Vmn1r84	A	G	7: 12,096,346 (GRCm39)	C104R	probably damaging	Het
Vmn2r49	T	A	7: 9,710,378 (GRCm39)	M785L	probably benign	Het
Vmn2r85	G	T	10: 130,261,449 (GRCm39)	T296K	probably damaging	Het
Wdr3	C	T	3: 100,059,290 (GRCm39)	S343N	probably benign	Het
Yju2	G	T	17: 56,269,051 (GRCm39)	G53V	probably damaging	Het
Zfp143	A	T	7: 109,690,993 (GRCm39)	M515L	possibly damaging	Het
Zfp735	A	G	11: 73,580,626 (GRCm39)	I42V	probably benign	Het
Zswim5	A	T	4: 116,819,749 (GRCm39)	M385L	probably benign	Het

Other mutations in Macroh2a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00954:Macroh2a1	APN	13	56,222,132 (GRCm39)	missense	possibly damaging	0.75
IGL01294:Macroh2a1	APN	13	56,222,113 (GRCm39)	missense	probably damaging	1.00
IGL02994:Macroh2a1	APN	13	56,252,112 (GRCm39)	splice site	probably benign
R0270:Macroh2a1	UTSW	13	56,243,927 (GRCm39)	splice site	probably benign
R0988:Macroh2a1	UTSW	13	56,231,109 (GRCm39)	critical splice acceptor site	probably null
R1464:Macroh2a1	UTSW	13	56,230,949 (GRCm39)	missense	probably damaging	0.98
R1464:Macroh2a1	UTSW	13	56,230,949 (GRCm39)	missense	probably damaging	0.98
R1638:Macroh2a1	UTSW	13	56,252,722 (GRCm39)	missense	probably damaging	1.00
R1782:Macroh2a1	UTSW	13	56,222,134 (GRCm39)	missense	probably damaging	0.99
R1850:Macroh2a1	UTSW	13	56,244,052 (GRCm39)	splice site	probably benign
R1860:Macroh2a1	UTSW	13	56,231,017 (GRCm39)	missense	probably damaging	1.00
R2228:Macroh2a1	UTSW	13	56,232,075 (GRCm39)	missense	probably damaging	1.00
R4674:Macroh2a1	UTSW	13	56,230,997 (GRCm39)	missense	possibly damaging	0.91
R5102:Macroh2a1	UTSW	13	56,243,936 (GRCm39)	critical splice donor site	probably null
R5106:Macroh2a1	UTSW	13	56,236,106 (GRCm39)	missense	possibly damaging	0.75
R5161:Macroh2a1	UTSW	13	56,237,594 (GRCm39)	missense	probably benign	0.05
R5862:Macroh2a1	UTSW	13	56,222,084 (GRCm39)	missense	probably damaging	1.00
R6165:Macroh2a1	UTSW	13	56,252,268 (GRCm39)	missense	probably damaging	0.97
R6588:Macroh2a1	UTSW	13	56,252,302 (GRCm39)	missense	possibly damaging	0.90
R6994:Macroh2a1	UTSW	13	56,237,643 (GRCm39)	missense	probably benign	0.11
R7669:Macroh2a1	UTSW	13	56,276,146 (GRCm39)	missense	probably damaging	1.00
R9152:Macroh2a1	UTSW	13	56,232,004 (GRCm39)	frame shift	probably null
R9732:Macroh2a1	UTSW	13	56,243,976 (GRCm39)	missense	probably benign	0.26

Posted On

2015-04-16