Mutagenetix > Incidental Mutation

Incidental Mutation 'R6735:Macroh2a2'

530189

Institutional Source

Beutler Lab

Gene Symbol

Macroh2a2

Ensembl Gene

ENSMUSG00000020086

Gene Name

macroH2A.2 histone

Synonyms

H2afy2

MMRRC Submission

044853-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.570) question?

Stock #

R6735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

61574444-61619926 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 61577046 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 274 (I274T)

Ref Sequence

ENSEMBL: ENSMUSP00000020283 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020283] [ENSMUST00000067857] [ENSMUST00000080099] [ENSMUST00000099706] [ENSMUST00000105455]

AlphaFold

Q8CCK0

Predicted Effect

probably damaging
Transcript: ENSMUST00000020283
AA Change: I274T

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000020283
Gene: ENSMUSG00000020086
AA Change: I274T

Domain	Start	End	E-Value	Type
H2A	3	120	5.3e-67	SMART
low complexity region	134	151	N/A	INTRINSIC
low complexity region	157	167	N/A	INTRINSIC
Pfam:Macro	216	330	1.8e-28	PFAM
low complexity region	339	345	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067857

SMART Domains

Protein: ENSMUSP00000070054
Gene: ENSMUSG00000020085

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000080099

SMART Domains

Protein: ENSMUSP00000078998
Gene: ENSMUSG00000020085

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	12	302	5.4e-43	PFAM
Pfam:K_oxygenase	94	190	5.2e-7	PFAM
Pfam:Pyr_redox	144	230	7.2e-10	PFAM
low complexity region	328	342	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000099706

SMART Domains

Protein: ENSMUSP00000097297
Gene: ENSMUSG00000020085

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105455

SMART Domains

Protein: ENSMUSP00000101095
Gene: ENSMUSG00000020085

Domain	Start	End	E-Value	Type
Pfam:Pyr_redox_2	13	291	3.2e-20	PFAM
Pfam:K_oxygenase	89	193	1.4e-7	PFAM
Pfam:Pyr_redox	145	233	4e-10	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.5%

Validation Efficiency

100% (47/47)

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 may participate in stable X chromosome inactivation. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any developmental or reproductive abnormalities. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	A	G	4: 148,026,274 (GRCm39)	T265A	probably benign	Het
Adap1	A	T	5: 139,278,900 (GRCm39)	Y127N	probably damaging	Het
Alg8	T	C	7: 97,032,189 (GRCm39)	F246S	probably benign	Het
Alpk1	A	G	3: 127,518,098 (GRCm39)	Y68H	probably damaging	Het
Arhgef5	T	C	6: 43,251,966 (GRCm39)	S906P	probably benign	Het
C9	A	T	15: 6,519,387 (GRCm39)	D408V	probably benign	Het
Cnot2	G	A	10: 116,334,058 (GRCm39)	P371S	possibly damaging	Het
Cpeb4	T	A	11: 31,874,700 (GRCm39)	Y174N	probably benign	Het
Enpp3	A	G	10: 24,683,351 (GRCm39)	Y289H	probably damaging	Het
Erbin	A	T	13: 104,020,718 (GRCm39)	D80E	probably damaging	Het
Fgd6	A	T	10: 93,910,182 (GRCm39)	E829V	possibly damaging	Het
Foxn2	T	G	17: 88,794,223 (GRCm39)	S387A	probably benign	Het
Hapstr1	T	A	16: 8,673,764 (GRCm39)	H230Q	probably benign	Het
Irag2	T	C	6: 145,106,619 (GRCm39)	L201S	probably damaging	Het
Kif13a	A	G	13: 46,906,222 (GRCm39)	S574P	possibly damaging	Het
Lhx6	T	G	2: 35,981,390 (GRCm39)	D67A	probably damaging	Het
Lmbr1l	A	T	15: 98,807,121 (GRCm39)	M220K	probably damaging	Het
Naa35	T	C	13: 59,773,378 (GRCm39)	L111P	probably damaging	Het
Notch2	T	A	3: 98,041,902 (GRCm39)	V1307E	probably damaging	Het
Nts	T	A	10: 102,320,859 (GRCm39)	M77L	probably benign	Het
Or5m11b	A	C	2: 85,805,778 (GRCm39)	S64R	possibly damaging	Het
Pigz	A	G	16: 31,764,361 (GRCm39)	N473S	probably benign	Het
Pkd2	A	G	5: 104,628,195 (GRCm39)	D423G	probably damaging	Het
Plac8	A	G	5: 100,710,485 (GRCm39)		probably null	Het
Ppp2r2b	T	C	18: 42,821,653 (GRCm39)		probably null	Het
Proc	T	C	18: 32,256,701 (GRCm39)	N322S	probably benign	Het
Prpf40b	C	T	15: 99,212,784 (GRCm39)	R627W	probably damaging	Het
Psd3	A	G	8: 68,573,398 (GRCm39)		probably null	Het
Safb	A	G	17: 56,892,169 (GRCm39)		probably benign	Het
Scnn1g	A	G	7: 121,341,486 (GRCm39)	D216G	probably benign	Het
Septin7	A	G	9: 25,215,048 (GRCm39)	E345G	possibly damaging	Het
Sult2a5	A	T	7: 13,398,983 (GRCm39)	K197*	probably null	Het
Suv39h1	C	A	X: 7,929,138 (GRCm39)	R397L	probably damaging	Homo
Thbs4	T	A	13: 92,891,674 (GRCm39)	M814L	possibly damaging	Het
Tmem14a	T	A	1: 21,299,805 (GRCm39)		probably benign	Het
Tmprss11d	C	A	5: 86,457,159 (GRCm39)	A167S	probably damaging	Het
Ttn	C	A	2: 76,629,252 (GRCm39)	C14362F	probably damaging	Het
Usp15	T	C	10: 123,004,272 (GRCm39)	I161V	possibly damaging	Het
Vmn1r67	T	C	7: 10,181,138 (GRCm39)	L134P	probably damaging	Het
Wdr74	A	G	19: 8,713,586 (GRCm39)	E73G	possibly damaging	Het
Zbtb49	A	T	5: 38,358,402 (GRCm39)	M617K	possibly damaging	Het
Zc3h3	G	A	15: 75,628,483 (GRCm39)	T937I	probably benign	Het
Zeb2	C	T	2: 45,000,028 (GRCm39)	V25M	probably null	Het
Zfp108	T	C	7: 23,961,197 (GRCm39)	F596S	probably damaging	Het
Zfyve1	T	A	12: 83,641,618 (GRCm39)	N13Y	possibly damaging	Het
Zswim2	T	C	2: 83,754,105 (GRCm39)	D185G	probably benign	Het

Other mutations in Macroh2a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01685:Macroh2a2	APN	10	61,593,550 (GRCm39)	missense	probably damaging	0.96
lown	UTSW	10	61,593,614 (GRCm39)	missense	probably damaging	0.99
R0551:Macroh2a2	UTSW	10	61,576,945 (GRCm39)	missense	probably damaging	0.99
R1371:Macroh2a2	UTSW	10	61,585,112 (GRCm39)	missense	possibly damaging	0.70
R4830:Macroh2a2	UTSW	10	61,575,132 (GRCm39)	missense	possibly damaging	0.95
R5394:Macroh2a2	UTSW	10	61,587,466 (GRCm39)	missense	possibly damaging	0.89
R5541:Macroh2a2	UTSW	10	61,583,496 (GRCm39)	missense	probably benign	0.20
R6029:Macroh2a2	UTSW	10	61,583,541 (GRCm39)	missense	possibly damaging	0.75
R6498:Macroh2a2	UTSW	10	61,593,614 (GRCm39)	missense	probably damaging	0.99
R7139:Macroh2a2	UTSW	10	61,593,674 (GRCm39)	start codon destroyed	unknown
R8753:Macroh2a2	UTSW	10	61,585,113 (GRCm39)	missense	possibly damaging	0.85
R8955:Macroh2a2	UTSW	10	61,593,610 (GRCm39)	missense	probably damaging	0.98
Z1177:Macroh2a2	UTSW	10	61,575,129 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAAGGCTGGAGACCTCAACC -3'
(R):5'- AAAATCATAAGCTGTCCCTTCAAGG -3'

Sequencing Primer
(F):5'- TGGAGACCTCAACCCAGAAACTG -3'
(R):5'- GCTGTCCCTTCAAGGCTAAAG -3'

Posted On

2018-08-01