Mutagenetix > Incidental Mutation

Incidental Mutation 'R1473:Hist2h2bb'

165903

Institutional Source

Beutler Lab

Gene Symbol

Hist2h2bb

Ensembl Gene

ENSMUSG00000105827

Gene Name

histone cluster 2, H2bb

Synonyms

H2b-616

MMRRC Submission

039526-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.474) question?

Stock #

R1473 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96269752-96270132 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 96270072 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 107 (L107F)

Ref Sequence

ENSEMBL: ENSMUSP00000135427 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098843] [ENSMUST00000177113]

AlphaFold

Q64525

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000051089

SMART Domains

Protein: ENSMUSP00000059105
Gene: ENSMUSG00000050936

Domain	Start	End	E-Value	Type
H2B	28	112	1.48e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000098843

SMART Domains

Protein: ENSMUSP00000096442
Gene: ENSMUSG00000074403

Domain	Start	End	E-Value	Type
H3	34	136	2.12e-75	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000177113
AA Change: L107F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: L107F

Domain	Start	End	E-Value	Type
H2B	28	124	1.43e-72	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000193036

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.5%
20x: 93.2%

Validation Efficiency

98% (88/90)

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-dependent histone that is a member of the histone H2B family. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	T	C	19: 57,068,236	D342G	probably damaging	Het
Acad8	T	C	9: 26,979,041	T293A	probably benign	Het
Adamts13	C	A	2: 26,981,753	Y310*	probably null	Het
Adcy6	T	A	15: 98,592,743	Y1102F	probably damaging	Het
Ahctf1	A	G	1: 179,799,279	V18A	probably damaging	Het
Ahctf1	G	A	1: 179,776,108	T791M	probably benign	Het
Ampd3	T	G	7: 110,804,935	S564R	probably damaging	Het
Anapc1	A	T	2: 128,617,697	I1814K	possibly damaging	Het
Arl4c	A	T	1: 88,701,609	L19Q	probably damaging	Het
Atp6v0e2	T	C	6: 48,539,264	Y49H	probably damaging	Het
Ccdc24	G	T	4: 117,869,904		probably benign	Het
Clcn6	A	C	4: 148,024,156	F139V	possibly damaging	Het
Col2a1	A	G	15: 97,982,908		probably benign	Het
Crip2	T	A	12: 113,143,500	C29S	probably damaging	Het
Cyp2a4	A	C	7: 26,314,763	N455T	probably benign	Het
Dhcr7	A	G	7: 143,841,368	D113G	probably damaging	Het
Dhcr7	T	C	7: 143,847,068	Y323H	probably damaging	Het
Dnah7a	A	C	1: 53,496,014	S2696A	probably benign	Het
Dnajc12	A	G	10: 63,397,244	T55A	probably benign	Het
Drosha	G	A	15: 12,912,520	E1075K	probably benign	Het
Duox2	A	G	2: 122,287,121	S911P	possibly damaging	Het
Ephb2	G	A	4: 136,694,058	A327V	possibly damaging	Het
Espl1	C	T	15: 102,320,443	T1711I	possibly damaging	Het
Fmnl2	A	G	2: 52,858,207	K22R	possibly damaging	Het
Fzd6	T	C	15: 39,030,963	F175L	probably damaging	Het
Gm4737	T	A	16: 46,154,819	E65V	probably damaging	Het
Gm5155	A	G	7: 17,905,091		noncoding transcript	Het
Gm6526	A	G	14: 43,748,846	I76M	probably damaging	Het
Gm6583	T	C	5: 112,354,549	T430A	probably benign	Het
Gm9881	A	T	16: 91,170,735	F34I	unknown	Het
Gm9892	T	C	8: 52,196,614	D148G	possibly damaging	Het
Grb10	C	T	11: 11,934,249	V486I	probably damaging	Het
Gtf3c3	C	T	1: 54,417,778	A488T	probably damaging	Het
Hdac4	T	C	1: 92,029,968	H108R	possibly damaging	Het
Hmcn1	G	A	1: 150,772,552	T661I	probably benign	Het
Icam1	T	A	9: 21,027,876	I515N	probably damaging	Het
Ifi208	A	G	1: 173,695,654	R497G	possibly damaging	Het
Igsf10	A	T	3: 59,318,767	V2495E	probably damaging	Het
Iqgap1	T	C	7: 80,734,011	M1102V	probably benign	Het
Itgb4	A	T	11: 115,984,047	N410I	probably benign	Het
Jup	T	C	11: 100,379,601	H360R	possibly damaging	Het
Kif20b	T	A	19: 34,974,496	S1685T	possibly damaging	Het
Lins1	T	C	7: 66,712,046		probably null	Het
Lrig1	T	A	6: 94,607,313	T917S	probably benign	Het
Mast2	A	G	4: 116,311,955	S814P	probably damaging	Het
Mast4	T	C	13: 102,772,519	T483A	probably damaging	Het
Mcpt1	T	C	14: 56,019,533	M176T	probably benign	Het
Mettl22	A	G	16: 8,473,961	Q38R	probably damaging	Het
Mrm2	T	C	5: 140,328,688	T131A	probably benign	Het
Nde1	T	G	16: 14,185,864	F71V	probably benign	Het
Nxn	C	T	11: 76,263,187	G274D	possibly damaging	Het
Olfr1230	A	T	2: 89,296,906	Y121*	probably null	Het
Olfr183	A	T	16: 58,999,912	T76S	probably benign	Het
Olfr414	T	A	1: 174,430,643	W72R	probably damaging	Het
Olfr427	G	T	1: 174,099,749	C97F	probably damaging	Het
Osbp2	T	C	11: 3,717,175		probably null	Het
Otud7a	C	A	7: 63,754,629		probably benign	Het
Phf3	G	A	1: 30,805,940	L1313F	probably damaging	Het
Pkhd1	A	T	1: 20,522,983	D1635E	probably benign	Het
Plpp1	A	G	13: 112,859,664	H171R	probably damaging	Het
Pofut1	A	G	2: 153,261,246	M172V	probably damaging	Het
Prmt5	A	G	14: 54,508,915	F580L	probably damaging	Het
Rab11fip3	A	T	17: 25,991,322	L987Q	probably damaging	Het
Retnlb	T	A	16: 48,818,665	C76*	probably null	Het
Rnf38	T	C	4: 44,131,584	N399S	probably benign	Het
Sbk1	A	G	7: 126,292,252	E286G	possibly damaging	Het
Scin	T	A	12: 40,077,502	T430S	probably benign	Het
Sgsm1	T	A	5: 113,263,257	T868S	probably benign	Het
Sipa1l1	G	A	12: 82,341,111	R37H	probably damaging	Het
Smchd1	A	T	17: 71,361,837		probably benign	Het
Sned1	G	A	1: 93,281,654	V830M	possibly damaging	Het
Soga1	A	T	2: 157,020,448	Y1520*	probably null	Het
Stk32c	C	T	7: 139,125,179	R23Q	probably damaging	Het
Sult1d1	A	G	5: 87,564,739	M82T	probably benign	Het
Tat	T	C	8: 109,996,918	L346P	probably damaging	Het
Tenm3	C	A	8: 48,310,625	G789V	probably damaging	Het
Thsd7a	C	T	6: 12,338,622	S1203N	probably benign	Het
Tmem191c	G	A	16: 17,277,962		probably null	Het
Tmem268	A	G	4: 63,580,338	T239A	probably damaging	Het
Tmem82	A	C	4: 141,616,278	L227R	possibly damaging	Het
Ttn	A	T	2: 76,727,032	I29906N	probably damaging	Het
Txndc15	T	C	13: 55,721,574		probably benign	Het
Ubqln4	A	G	3: 88,565,845	I536V	probably benign	Het
Unc80	C	T	1: 66,521,581	H823Y	possibly damaging	Het
Vmn2r102	A	T	17: 19,694,581	I803F	probably benign	Het
Vmn2r6	G	T	3: 64,538,158	Y715*	probably null	Het
Vmn2r74	A	T	7: 85,961,410	C25S	probably damaging	Het
Wdr38	A	G	2: 39,000,979	T261A	probably benign	Het
Zfp653	T	C	9: 22,058,220	E250G	possibly damaging	Het

Other mutations in Hist2h2bb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:Hist2h2bb	APN	3	96269809	unclassified	probably benign
R0357:Hist2h2bb	UTSW	3	96269788	missense	probably null	0.04
R0882:Hist2h2bb	UTSW	3	96269744	splice site	probably null
R0976:Hist2h2bb	UTSW	3	96270086	missense	probably benign	0.19
R1507:Hist2h2bb	UTSW	3	96269873	missense	probably damaging	1.00
R4503:Hist2h2bb	UTSW	3	96269924	missense	possibly damaging	0.84
R4751:Hist2h2bb	UTSW	3	96269151	unclassified	probably benign
R4808:Hist2h2bb	UTSW	3	96270013	missense	probably benign	0.00
R6118:Hist2h2bb	UTSW	3	96269951	missense	probably damaging	1.00
R6585:Hist2h2bb	UTSW	3	96270097	missense	probably benign	0.17
R7527:Hist2h2bb	UTSW	3	96269870	missense	possibly damaging	0.94
R9093:Hist2h2bb	UTSW	3	96269974	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- AAGTCTGCTCCTGCCCCAAAGAAG -3'
(R):5'- TTTGAAACGCTCGATGTTGCACC -3'

Sequencing Primer
(F):5'- CGCAAGGAGAGCTATTCTGTTTAC -3'
(R):5'- TGCAGGGTAACAGACTCATC -3'

Posted On

2014-03-28