Mutagenetix > Incidental Mutation

Incidental Mutation 'R4895:H2aj'

377563

Institutional Source

Beutler Lab

Gene Symbol

H2aj

Ensembl Gene

ENSMUSG00000060032

Gene Name

H2J.A histone

Synonyms

H2afj

MMRRC Submission

042499-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.375) question?

Stock #

R4895 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

136785246-136787072 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136785660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 108 (V108A)

Ref Sequence

ENSEMBL: ENSMUSP00000144974 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074556] [ENSMUST00000116514] [ENSMUST00000179285] [ENSMUST00000203982]

AlphaFold

Q8R1M2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000074556
AA Change: V108A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000074142
Gene: ENSMUSG00000060032
AA Change: V108A

Domain	Start	End	E-Value	Type
H2A	3	123	2.32e-81	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000116514

SMART Domains

Protein: ENSMUSP00000112213
Gene: ENSMUSG00000030216

Domain	Start	End	E-Value	Type
Pfam:Wbp11	12	94	1e-26	PFAM
low complexity region	191	209	N/A	INTRINSIC
low complexity region	263	284	N/A	INTRINSIC
low complexity region	344	367	N/A	INTRINSIC
low complexity region	380	532	N/A	INTRINSIC
low complexity region	549	565	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000179285

SMART Domains

Protein: ENSMUSP00000136357
Gene: ENSMUSG00000096010

Domain	Start	End	E-Value	Type
H4	16	90	2.59e-29	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198368

Predicted Effect

possibly damaging
Transcript: ENSMUST00000203982
AA Change: V108A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144974
Gene: ENSMUSG00000060032
AA Change: V108A

Domain	Start	End	E-Value	Type
H2A	3	123	9.8e-84	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204833

Meta Mutation Damage Score

0.7298

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 94.0%

Validation Efficiency

98% (84/86)

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 is located on chromosome 6 and encodes a replication-independent histone that is member of the histone H2A family. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519P11Rik	C	A	2: 154,454,990 (GRCm39)		probably benign	Het
Abat	G	A	16: 8,433,826 (GRCm39)	A392T	probably benign	Het
Abca14	G	A	7: 119,846,572 (GRCm39)		probably null	Het
Abcc6	A	T	7: 45,630,414 (GRCm39)	L1282Q	possibly damaging	Het
Acss2	A	G	2: 155,392,401 (GRCm39)		probably benign	Het
Adgrf1	G	T	17: 43,621,511 (GRCm39)	V583L	probably benign	Het
Aftph	T	C	11: 20,646,801 (GRCm39)	D825G	probably damaging	Het
Ahnak	T	C	19: 8,994,805 (GRCm39)	V5363A	probably benign	Het
Apba3	G	A	10: 81,107,117 (GRCm39)		probably null	Het
Asb13	T	C	13: 3,693,589 (GRCm39)	Y116H	probably damaging	Het
Asb4	C	A	6: 5,398,266 (GRCm39)	T77K	probably damaging	Het
Atp8b4	A	T	2: 126,256,289 (GRCm39)	H223Q	probably benign	Het
Best1	A	G	19: 9,970,135 (GRCm39)	L159P	probably benign	Het
Cacna1h	A	T	17: 25,608,396 (GRCm39)	M731K	probably damaging	Het
Catspere1	T	A	1: 177,687,427 (GRCm39)		noncoding transcript	Het
Cenpv	A	T	11: 62,418,346 (GRCm39)	Y202*	probably null	Het
Cep57	A	T	9: 13,727,449 (GRCm39)		probably benign	Het
Cfap100	T	A	6: 90,383,084 (GRCm39)	D363V	possibly damaging	Het
Cluh	A	G	11: 74,558,231 (GRCm39)	Y1126C	probably damaging	Het
Cyp2j5	A	G	4: 96,551,347 (GRCm39)		probably null	Het
Dnajc11	T	C	4: 152,064,390 (GRCm39)	F514L	probably damaging	Het
Efcab3	C	T	11: 104,611,112 (GRCm39)	T318I	probably benign	Het
Efcab3	T	A	11: 105,008,227 (GRCm39)		probably benign	Het
Efcab3	A	G	11: 104,640,496 (GRCm39)	D1026G	probably damaging	Het
Eif2b4	T	G	5: 31,350,298 (GRCm39)	Q8P	probably benign	Het
Epha6	A	T	16: 59,486,918 (GRCm39)	V1043E	probably benign	Het
Gm11562	G	T	11: 99,511,141 (GRCm39)	Q20K	unknown	Het
Gm14415	A	T	2: 176,796,114 (GRCm39)		noncoding transcript	Het
Gm5431	A	G	11: 48,779,855 (GRCm39)	S634P	probably damaging	Het
Gpld1	C	A	13: 25,163,711 (GRCm39)	N501K	probably damaging	Het
Gsn	C	T	2: 35,192,590 (GRCm39)	R513C	probably damaging	Het
Gulp1	T	C	1: 44,827,757 (GRCm39)	F300L	probably benign	Het
Haus3	T	C	5: 34,325,414 (GRCm39)	R82G	probably benign	Het
Herc2	G	A	7: 55,872,734 (GRCm39)	R4424H	probably damaging	Het
Hmcn1	T	A	1: 150,553,130 (GRCm39)	Q2520L	probably benign	Het
Hs2st1	T	C	3: 144,171,014 (GRCm39)	I53V	probably benign	Het
Inpp5e	C	T	2: 26,287,924 (GRCm39)	R624Q	probably damaging	Het
Ints8	G	T	4: 11,230,367 (GRCm39)	C491*	probably null	Het
Itpkb	C	A	1: 180,241,460 (GRCm39)	A710D	probably damaging	Het
Kcnk4	A	C	19: 6,905,784 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,742,368 (GRCm39)		probably benign	Het
Lamb3	C	T	1: 193,014,622 (GRCm39)	R594*	probably null	Het
Map3k20	A	G	2: 72,232,700 (GRCm39)		probably benign	Het
Maz	A	T	7: 126,624,472 (GRCm39)		probably null	Het
Mtr	T	C	13: 12,231,752 (GRCm39)	T651A	probably benign	Het
Nbeal1	A	G	1: 60,332,062 (GRCm39)	E2252G	probably damaging	Het
Ndufa10	A	G	1: 92,397,618 (GRCm39)	Y61H	probably damaging	Het
Npat	T	A	9: 53,481,789 (GRCm39)	L1166M	probably damaging	Het
Or12e1	A	C	2: 87,022,192 (GRCm39)	I54L	probably benign	Het
Or4c108	A	T	2: 88,804,055 (GRCm39)	F60Y	probably benign	Het
Or5ak20	A	T	2: 85,183,341 (GRCm39)	*310K	probably null	Het
Or5b97	C	T	19: 12,878,251 (GRCm39)	V298M	probably damaging	Het
Or5h22	C	T	16: 58,895,020 (GRCm39)	C141Y	probably benign	Het
Or5p66	A	C	7: 107,885,802 (GRCm39)	I177S	probably damaging	Het
Pcdhb3	T	C	18: 37,434,759 (GRCm39)	F242L	probably damaging	Het
Phip	A	G	9: 82,841,648 (GRCm39)	V57A	probably benign	Het
Plekha7	A	T	7: 115,788,626 (GRCm39)		probably null	Het
Pot1a	A	C	6: 25,753,205 (GRCm39)	F444V	probably damaging	Het
Ppm1a	C	T	12: 72,831,126 (GRCm39)	P217L	probably damaging	Het
Prepl	A	G	17: 85,388,494 (GRCm39)	F203S	probably damaging	Het
Prl8a1	T	C	13: 27,759,513 (GRCm39)	I175V	probably benign	Het
Ranbp6	A	T	19: 29,787,175 (GRCm39)	I1059N	possibly damaging	Het
Rhag	A	G	17: 41,122,242 (GRCm39)	Q59R	probably benign	Het
Sema4c	A	C	1: 36,592,651 (GRCm39)		probably null	Het
Sf3b3	T	C	8: 111,542,656 (GRCm39)	D902G	probably benign	Het
Tbc1d23	A	G	16: 57,019,220 (GRCm39)		probably null	Het
Tbrg1	A	T	9: 37,566,375 (GRCm39)	I54N	probably damaging	Het
Tchh	A	T	3: 93,352,993 (GRCm39)	E811V	unknown	Het
Tenm3	T	A	8: 48,754,006 (GRCm39)	D799V	probably damaging	Het
Tlr5	T	C	1: 182,801,764 (GRCm39)	L342P	probably damaging	Het
Tppp	C	T	13: 74,178,996 (GRCm39)	R146*	probably null	Het
Trpm4	A	T	7: 44,967,482 (GRCm39)	M574K	probably damaging	Het
Uggt1	A	T	1: 36,195,345 (GRCm39)	F1288Y	probably damaging	Het
Uggt2	T	A	14: 119,256,298 (GRCm39)	K1124N	probably damaging	Het
Usf3	A	C	16: 44,041,459 (GRCm39)	S1980R	possibly damaging	Het
Vav2	T	C	2: 27,208,973 (GRCm39)	D100G	probably damaging	Het
Vmn2r3	G	T	3: 64,167,182 (GRCm39)	H650N	probably benign	Het
Vmn2r59	T	A	7: 41,695,218 (GRCm39)	Y398F	probably damaging	Het
Zfp619	A	G	7: 39,187,396 (GRCm39)	D1142G	possibly damaging	Het
Zfp933	G	A	4: 147,910,892 (GRCm39)	R235*	probably null	Het

Other mutations in H2aj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0294:H2aj	UTSW	6	136,785,602 (GRCm39)	missense	probably damaging	1.00
R0295:H2aj	UTSW	6	136,785,602 (GRCm39)	missense	probably damaging	1.00
R4935:H2aj	UTSW	6	136,785,681 (GRCm39)	missense	possibly damaging	0.46
R6712:H2aj	UTSW	6	136,785,524 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- GAGCTTTTGATTGGGAGACATC -3'
(R):5'- CGCTCAAAGTTGGAACTCGTC -3'

Sequencing Primer
(F):5'- GTACGGTACCTGCCTGTCAC -3'
(R):5'- GGAACTCGTCCCCACCC -3'

Posted On

2016-03-17