Mutagenetix > Incidental Mutation

Incidental Mutation 'R7663:H2bw2'

591751

Institutional Source

Beutler Lab

Gene Symbol

H2bw2

Ensembl Gene

ENSMUSG00000048155

Gene Name

H2B.W histone 2

Synonyms

1700014N06Rik, H2bfm, H2BL2

MMRRC Submission

045738-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R7663 (G1)

Quality Score

221.999

Status

Validated

Chromosome

Chromosomal Location

135828074-135829122 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 135828471 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Lysine at position 120 (R120K)

Ref Sequence

ENSEMBL: ENSMUSP00000055261 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000059808]

AlphaFold

Q9DAB5

Predicted Effect

unknown
Transcript: ENSMUST00000059808
AA Change: R120K

SMART Domains

Protein: ENSMUSP00000055261
Gene: ENSMUSG00000048155
AA Change: R120K

Domain	Start	End	E-Value	Type
low complexity region	10	19	N/A	INTRINSIC
low complexity region	23	95	N/A	INTRINSIC
H2B	126	222	1.24e-40	SMART

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

99% (68/69)

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 H2B histone family. [provided by RefSeq, Nov 2015]

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,771,887 (GRCm39)	T359A	probably damaging	Het
Abcd4	A	C	12: 84,652,903 (GRCm39)	V433G	probably damaging	Het
Acot5	C	A	12: 84,116,355 (GRCm39)	R39S	probably damaging	Het
Actl9	T	C	17: 33,652,443 (GRCm39)	S168P	probably damaging	Het
Adam15	A	G	3: 89,253,113 (GRCm39)	L237P	probably damaging	Het
Ahctf1	T	C	1: 179,617,879 (GRCm39)	Q289R	possibly damaging	Het
Arid5b	C	T	10: 67,934,417 (GRCm39)	G495E	probably benign	Het
Armh1	C	A	4: 117,070,938 (GRCm39)	A396S	probably benign	Het
Asah1	C	T	8: 41,794,664 (GRCm39)	R385Q	probably damaging	Het
Bicc1	T	C	10: 70,782,420 (GRCm39)	T607A	probably benign	Het
Ccdc88a	T	C	11: 29,448,614 (GRCm39)		probably null	Het
Cdhr4	A	T	9: 107,875,971 (GRCm39)	R750*	probably null	Het
Cep290	T	A	10: 100,390,398 (GRCm39)		probably null	Het
Clca3a1	T	A	3: 144,442,797 (GRCm39)	D749V	probably benign	Het
Clcn1	C	T	6: 42,286,997 (GRCm39)	P685S	possibly damaging	Het
Clk1	A	G	1: 58,460,319 (GRCm39)	S104P	probably damaging	Het
Commd10	T	C	18: 47,219,323 (GRCm39)	V172A	probably benign	Het
Cyp2c69	A	T	19: 39,865,953 (GRCm39)	C213*	probably null	Het
Dnah14	A	T	1: 181,579,720 (GRCm39)		probably null	Het
Dock2	C	T	11: 34,611,854 (GRCm39)	G170R	probably damaging	Het
Fam186a	T	G	15: 99,842,950 (GRCm39)	H1098P	probably benign	Het
Flt1	T	C	5: 147,591,930 (GRCm39)	T511A	probably benign	Het
Fmo1	A	C	1: 162,663,866 (GRCm39)	I221S	possibly damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
Ginm1	A	T	10: 7,651,126 (GRCm39)	S93R	possibly damaging	Het
Gm3629	A	C	14: 17,875,685 (GRCm39)		probably null	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gys2	C	T	6: 142,405,211 (GRCm39)	R192H	probably damaging	Het
Hectd4	C	A	5: 121,462,094 (GRCm39)	A987E	probably benign	Het
Herc2	G	A	7: 55,786,433 (GRCm39)	V1593I	probably benign	Het
Ighv14-3	T	C	12: 114,023,554 (GRCm39)	T88A	probably benign	Het
Jag2	T	C	12: 112,877,286 (GRCm39)	D695G	probably damaging	Het
Kazn	A	T	4: 141,832,209 (GRCm39)	D663E		Het
Krt79	T	C	15: 101,840,278 (GRCm39)	D306G	probably damaging	Het
Lama1	T	A	17: 68,087,875 (GRCm39)	C1498S		Het
Ldb1	T	C	19: 46,023,963 (GRCm39)	Y141C	probably damaging	Het
Lmnb2	T	A	10: 80,740,573 (GRCm39)	E336V	probably damaging	Het
Lrp1b	T	A	2: 42,543,047 (GRCm39)		probably benign	Het
Mug1	C	A	6: 121,838,179 (GRCm39)	H470N	possibly damaging	Het
Mycbp2	T	A	14: 103,429,045 (GRCm39)	Y2377F	probably damaging	Het
Neb	T	A	2: 52,120,059 (GRCm39)	Y721F		Het
Ntf3	A	G	6: 126,078,778 (GRCm39)	S243P	probably damaging	Het
Or4c103	G	C	2: 88,513,696 (GRCm39)	P127A	probably damaging	Het
Or52s1	T	C	7: 102,861,652 (GRCm39)	M195T	possibly damaging	Het
Or5b121	G	T	19: 13,507,809 (GRCm39)	M301I	probably damaging	Het
Pdk1	G	A	2: 71,705,742 (GRCm39)		probably null	Het
Pdzd2	A	G	15: 12,373,289 (GRCm39)	V2282A	probably damaging	Het
Piwil1	T	C	5: 128,824,497 (GRCm39)	F517L	probably benign	Het
Plch2	T	A	4: 155,075,619 (GRCm39)	T738S	probably damaging	Het
Plekhm3	G	A	1: 64,922,367 (GRCm39)	R603W	probably damaging	Het
Pltp	A	T	2: 164,698,926 (GRCm39)		probably null	Het
Prdm4	A	G	10: 85,735,145 (GRCm39)	S666P	probably damaging	Het
Psmb3	G	T	11: 97,603,318 (GRCm39)	R177L	probably damaging	Het
Ralgapa2	A	G	2: 146,260,335 (GRCm39)	V764A	probably benign	Het
Rel	T	C	11: 23,692,713 (GRCm39)	D440G	probably benign	Het
Rimoc1	T	C	15: 4,018,165 (GRCm39)	Y170C	probably damaging	Het
Rims2	T	A	15: 39,370,422 (GRCm39)	V952E	probably damaging	Het
Samd4b	G	T	7: 28,122,925 (GRCm39)	C44*	probably null	Het
Slamf8	C	A	1: 172,415,605 (GRCm39)	V78F	possibly damaging	Het
Slc35a1	A	T	4: 34,675,493 (GRCm39)	N111K	possibly damaging	Het
Slc7a5	A	T	8: 122,614,274 (GRCm39)	Y264*	probably null	Het
Srsf2	T	C	11: 116,743,120 (GRCm39)	S134G	unknown	Het
Stag1	T	A	9: 100,620,191 (GRCm39)	M98K	probably damaging	Het
Trib1	T	C	15: 59,523,562 (GRCm39)	S199P	probably damaging	Het
Txnip	T	C	3: 96,467,153 (GRCm39)	S276P	possibly damaging	Het
Vmn1r194	C	T	13: 22,428,911 (GRCm39)	T176I	not run	Het
Vmn1r222	A	G	13: 23,416,601 (GRCm39)	L204P	possibly damaging	Het
Vmn2r63	T	A	7: 42,576,466 (GRCm39)	H449L	probably benign	Het
Vmn2r83	T	A	10: 79,314,956 (GRCm39)	N401K	probably damaging	Het
Vmn2r87	T	A	10: 130,308,054 (GRCm39)	H728L	probably damaging	Het
Zfp69	G	A	4: 120,792,323 (GRCm39)	A151V	probably benign	Het
Zfp738	A	G	13: 67,831,520 (GRCm39)		probably null	Het
Zfp974	T	C	7: 27,611,110 (GRCm39)	E205G	possibly damaging	Het

Other mutations in H2bw2

Allele	Source	Chr	Coord	Type	Predicted Effect
R1710:H2bw2	UTSW	X	135,828,216 (GRCm39)	missense	unknown
R7417:H2bw2	UTSW	X	135,828,471 (GRCm39)	missense	unknown
R7418:H2bw2	UTSW	X	135,828,471 (GRCm39)	missense	unknown
R7419:H2bw2	UTSW	X	135,828,471 (GRCm39)	missense	unknown
R7787:H2bw2	UTSW	X	135,828,471 (GRCm39)	missense	unknown
R7789:H2bw2	UTSW	X	135,828,471 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TATGGACGTTCTGGAGGAGC -3'
(R):5'- GCTGGCTTCGGATGCAATTC -3'

Sequencing Primer
(F):5'- ACGTTCTGGAGGAGCTATCTTC -3'
(R):5'- GGCTTCGGATGCAATTCTTTCAAAC -3'

Posted On

2019-11-12