Mutagenetix > Incidental Mutation

Incidental Mutation 'R1037:H2bc15'

93887

Institutional Source

Beutler Lab

Gene Symbol

H2bc15

Ensembl Gene

ENSMUSG00000095217

Gene Name

H2B clustered histone 15

Synonyms

Hist1h2bn

MMRRC Submission

039136-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R1037 (G1)

Quality Score

106

Status

Not validated

Chromosome

Chromosomal Location

21938293-21938673 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21938417 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 42 (V42E)

Ref Sequence

ENSEMBL: ENSMUSP00000089301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000074752] [ENSMUST00000091709] [ENSMUST00000102983]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000074752

SMART Domains

Protein: ENSMUSP00000074310
Gene: ENSMUSG00000063021

Domain	Start	End	E-Value	Type
H2A	3	123	1.22e-80	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000091709
AA Change: V42E

PolyPhen 2 Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000089301
Gene: ENSMUSG00000095217
AA Change: V42E

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	4.64e-72	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102983

SMART Domains

Protein: ENSMUSP00000100048
Gene: ENSMUSG00000064288

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198541

Coding Region Coverage

1x: 99.4%
3x: 98.1%
10x: 94.3%
20x: 85.9%

Validation Efficiency

100% (58/58)

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 is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933405L10Rik	A	G	8: 106,436,144 (GRCm39)	S139G	probably benign	Het
Abca2	T	A	2: 25,328,240 (GRCm39)		probably benign	Het
Abcb1b	A	T	5: 8,875,657 (GRCm39)	N610I	probably benign	Het
Ahnak	T	C	19: 8,984,982 (GRCm39)	F2089L	probably benign	Het
Cacnb1	T	C	11: 97,895,843 (GRCm39)		probably benign	Het
Cep57	T	C	9: 13,730,275 (GRCm39)	I61V	possibly damaging	Het
Ckap5	T	C	2: 91,380,974 (GRCm39)	I110T	probably benign	Het
Clasp2	T	C	9: 113,725,702 (GRCm39)		probably benign	Het
Col11a1	A	C	3: 113,987,801 (GRCm39)	E265A	probably damaging	Het
Cst13	A	G	2: 148,672,251 (GRCm39)		probably benign	Het
Cyp24a1	G	A	2: 170,333,537 (GRCm39)	T272M	probably damaging	Het
Cyp4a14	A	C	4: 115,347,193 (GRCm39)	L415R	probably damaging	Het
Dbnl	T	C	11: 5,746,807 (GRCm39)	F179S	probably damaging	Het
Eepd1	T	C	9: 25,498,079 (GRCm39)	L388P	possibly damaging	Het
Exosc8	G	T	3: 54,640,159 (GRCm39)	A55E	probably damaging	Het
Fam72a	G	A	1: 131,461,557 (GRCm39)	V81I	probably damaging	Het
Fasn	C	T	11: 120,700,277 (GRCm39)	M2182I	probably benign	Het
Fras1	C	T	5: 96,862,322 (GRCm39)	P2234S	probably damaging	Het
Grn	C	A	11: 102,323,896 (GRCm39)	D33E	possibly damaging	Het
Gsap	A	G	5: 21,456,163 (GRCm39)		probably benign	Het
Hook3	T	C	8: 26,562,378 (GRCm39)	Q229R	possibly damaging	Het
Itgb6	T	C	2: 60,480,412 (GRCm39)	E308G	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Lrrc4c	A	G	2: 97,460,330 (GRCm39)	M319V	probably benign	Het
Mia3	T	C	1: 183,138,698 (GRCm39)	I672M	probably benign	Het
Mib2	C	T	4: 155,743,917 (GRCm39)	G42S	probably damaging	Het
Mlc1	A	G	15: 88,849,664 (GRCm39)	L223P	probably damaging	Het
Mmp21	T	C	7: 133,276,182 (GRCm39)	K554E	probably benign	Het
Nup160	C	T	2: 90,524,246 (GRCm39)	T383I	probably damaging	Het
Opcml	T	A	9: 28,814,595 (GRCm39)	D290E	probably damaging	Het
Or10a3b	T	A	7: 108,445,191 (GRCm39)	T9S	probably benign	Het
Or4a27	T	A	2: 88,559,376 (GRCm39)	D189V	probably damaging	Het
Or5ac19	C	T	16: 59,089,307 (GRCm39)	C241Y	probably damaging	Het
Or5d38	A	G	2: 87,954,573 (GRCm39)	I252T	probably damaging	Het
Or5k14	T	C	16: 58,693,333 (GRCm39)	Y60C	probably damaging	Het
Palm3	C	A	8: 84,755,901 (GRCm39)	T471K	probably benign	Het
Prl2c5	T	A	13: 13,360,492 (GRCm39)	L50*	probably null	Het
Pzp	T	C	6: 128,496,389 (GRCm39)	N281S	probably benign	Het
Qser1	T	C	2: 104,590,900 (GRCm39)	Y1722C	probably damaging	Het
Ryr3	A	G	2: 112,699,453 (GRCm39)	V879A	probably benign	Het
Sbno1	A	G	5: 124,531,975 (GRCm39)	S736P	possibly damaging	Het
Septin5	G	A	16: 18,441,844 (GRCm39)		probably benign	Het
Slc17a6	A	G	7: 51,298,996 (GRCm39)		probably benign	Het
Spag17	A	T	3: 100,010,433 (GRCm39)	T1976S	probably benign	Het
Swt1	A	T	1: 151,246,320 (GRCm39)		probably benign	Het
Tenm4	T	C	7: 96,446,688 (GRCm39)	W853R	probably damaging	Het
Thbs1	A	T	2: 117,953,532 (GRCm39)	Q983L	probably damaging	Het
Tmem191	A	G	16: 17,094,347 (GRCm39)		probably benign	Het
Tmprss11g	A	T	5: 86,638,606 (GRCm39)	V294D	probably damaging	Het
Tor1aip2	A	G	1: 155,941,082 (GRCm39)	S463G	probably benign	Het
Trim36	A	G	18: 46,329,385 (GRCm39)		probably benign	Het
Ttc1	A	G	11: 43,621,326 (GRCm39)	V285A	possibly damaging	Het
Uckl1	C	T	2: 181,214,278 (GRCm39)	R303H	possibly damaging	Het
Vwa8	C	A	14: 79,324,094 (GRCm39)	C1132*	probably null	Het

Other mutations in H2bc15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
H8562:H2bc15	UTSW	13	21,938,648 (GRCm39)	missense	probably benign	0.11
R2189:H2bc15	UTSW	13	21,938,447 (GRCm39)	missense	probably damaging	1.00
R6379:H2bc15	UTSW	13	21,938,588 (GRCm39)	missense	probably benign	0.05
R6415:H2bc15	UTSW	13	21,938,656 (GRCm39)	missense	probably benign	0.10
R9245:H2bc15	UTSW	13	21,938,369 (GRCm39)	missense	unknown
R9523:H2bc15	UTSW	13	21,938,305 (GRCm39)	missense	unknown
R9525:H2bc15	UTSW	13	21,938,305 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCTGCTCAGTAAGTGGTTTGAAG -3'
(R):5'- TACTTGGTGACAGCCTTGGTGC -3'

Sequencing Primer
(F):5'- GATGACGACTGCTAATTCGC -3'
(R):5'- TTGGTGCCCTCCGACAC -3'

Posted On

2014-01-05