Mutagenetix > Incidental Mutation

Incidental Mutation 'R9152:Macroh2a1'

695109

Institutional Source

Beutler Lab

Gene Symbol

Macroh2a1

Ensembl Gene

ENSMUSG00000015937

Gene Name

macroH2A.1 histone

Synonyms

mH2a1, MACROH2A1.2, H2AF12M, H2afy

MMRRC Submission

068939-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9152 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

56221435-56283439 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

CTTACCTCCAGCT to C at 56232004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000016081 (fasta)

Gene Model

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

AlphaFold

Q9QZQ8

Predicted Effect

probably null
Transcript: ENSMUST00000016081

SMART Domains

Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937

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 null
Transcript: ENSMUST00000045788

SMART Domains

Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	A	13: 104,613,275 (GRCm39)	R1009S	probably benign	Het
Akap13	T	A	7: 75,261,033 (GRCm39)	I1219K	probably damaging	Het
Ap3b1	T	C	13: 94,609,439 (GRCm39)		probably null	Het
Ap3b1	T	A	13: 94,630,239 (GRCm39)	D831E	unknown	Het
Arsa	G	A	15: 89,359,995 (GRCm39)		probably benign	Het
Clrn2	T	C	5: 45,621,254 (GRCm39)	I216T	probably benign	Het
Cspg4	A	G	9: 56,795,463 (GRCm39)	K1066R	probably benign	Het
Cul4a	T	C	8: 13,155,799 (GRCm39)	M15T	probably benign	Het
Defb38	C	T	8: 19,076,558 (GRCm39)		probably benign	Het
Dnah9	T	C	11: 66,021,457 (GRCm39)	D323G	probably damaging	Het
Dsg1c	T	A	18: 20,416,329 (GRCm39)	D743E	probably benign	Het
Eif1ad11	T	C	12: 87,993,946 (GRCm39)	L58P	probably damaging	Het
Elf1	T	C	14: 79,808,352 (GRCm39)	L268P	probably damaging	Het
Helq	G	T	5: 100,918,325 (GRCm39)	A863D	probably benign	Het
Hfm1	T	A	5: 106,989,611 (GRCm39)	R1368S	probably benign	Het
Hspg2	G	A	4: 137,249,876 (GRCm39)	G1379E	possibly damaging	Het
Kcnq5	A	T	1: 21,539,692 (GRCm39)		probably null	Het
Lrit2	C	T	14: 36,794,187 (GRCm39)	T417I	probably damaging	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mgat2	G	A	12: 69,232,497 (GRCm39)	W357*	probably null	Het
Mlkl	A	G	8: 112,046,403 (GRCm39)	L290P	probably damaging	Het
Or1j11	T	A	2: 36,311,439 (GRCm39)	S10T	possibly damaging	Het
Or2k2	T	C	4: 58,785,114 (GRCm39)	I203V	probably benign	Het
Or7g32	A	T	9: 19,408,448 (GRCm39)	I135F	probably damaging	Het
Pcnx1	T	C	12: 82,022,589 (GRCm39)	V853A		Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 171,956,150 (GRCm39)		probably null	Het
Pik3c2a	G	A	7: 116,017,004 (GRCm39)	S251L	probably benign	Het
Prkch	T	C	12: 73,738,418 (GRCm39)	M175T	possibly damaging	Het
Psg22	A	T	7: 18,460,646 (GRCm39)	Q425L	probably damaging	Het
Qpctl	A	G	7: 18,883,025 (GRCm39)	L29P	probably damaging	Het
Ranbp10	A	T	8: 106,499,140 (GRCm39)	L549M	probably benign	Het
Rbbp6	A	G	7: 122,600,697 (GRCm39)	E1568G	unknown	Het
Rrh	A	T	3: 129,606,903 (GRCm39)	D173E	probably benign	Het
Scart2	A	T	7: 139,877,256 (GRCm39)	N857I	possibly damaging	Het
Selplg	A	G	5: 113,957,467 (GRCm39)	S280P	probably benign	Het
Septin11	T	C	5: 93,287,329 (GRCm39)	S17P	probably benign	Het
Stard9	T	C	2: 120,529,068 (GRCm39)	V1775A	probably damaging	Het
Tep1	A	C	14: 51,104,162 (GRCm39)	V244G	probably benign	Het
Tex24	A	C	8: 27,835,379 (GRCm39)	E302D	possibly damaging	Het
Trav18	A	G	14: 54,069,011 (GRCm39)	T19A	probably benign	Het
Trim56	T	C	5: 137,143,387 (GRCm39)	D43G	probably benign	Het
Trp53bp1	T	C	2: 121,029,056 (GRCm39)	T1869A	probably damaging	Het
Usp22	A	G	11: 61,049,201 (GRCm39)	C383R	probably damaging	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	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
IGL02505:Macroh2a1	APN	13	56,222,143 (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
R9732:Macroh2a1	UTSW	13	56,243,976 (GRCm39)	missense	probably benign	0.26

Predicted Primers

PCR Primer
(F):5'- CAGACAGGAGCTACTAGGTAAC -3'
(R):5'- TGAAACTGTAGCTGCTCAGGC -3'

Sequencing Primer
(F):5'- AACTTTAAGATGTGAAGGTGGTTTTC -3'
(R):5'- CTGCTCAGGCCACGTAAAGTATG -3'

Posted On

2022-01-20