Mutagenetix > Incidental Mutation

Incidental Mutation 'R7527:H2bc18'

583044

Institutional Source

Beutler Lab

Gene Symbol

H2bc18

Ensembl Gene

ENSMUSG00000105827

Gene Name

H2B clustered histone 18

Synonyms

H2b-616, Hist2h2bb

MMRRC Submission

045599-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.518) question?

Stock #

R7527 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

96177068-96177448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96177186 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 40 (V40D)

Ref Sequence

ENSEMBL: ENSMUSP00000135427 (fasta)

Gene Model

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

AlphaFold

Q64525

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

possibly damaging
Transcript: ENSMUST00000177113
AA Change: V40D

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: V40D

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	T	11: 110,218,556 (GRCm39)		probably null	Het
Abcc10	A	G	17: 46,623,830 (GRCm39)	S810P	possibly damaging	Het
Adam22	T	C	5: 8,132,239 (GRCm39)	H138R	possibly damaging	Het
Adcyap1	T	A	17: 93,510,257 (GRCm39)	L95*	probably null	Het
Adgrl4	C	A	3: 151,144,887 (GRCm39)	T12N	probably benign	Het
Alpi	T	C	1: 87,026,677 (GRCm39)	N438S	probably benign	Het
Ankrd44	T	C	1: 54,687,483 (GRCm39)	N979D	probably benign	Het
Ankrd60	A	C	2: 173,419,966 (GRCm39)	S57A	probably benign	Het
Arfgef3	G	A	10: 18,522,377 (GRCm39)	P550S	probably benign	Het
Btbd16	A	T	7: 130,422,202 (GRCm39)	D390V	probably damaging	Het
Cacna2d4	T	C	6: 119,248,208 (GRCm39)	V374A	probably benign	Het
Cdcp1	A	T	9: 123,014,172 (GRCm39)	F201I	probably benign	Het
Cdh15	A	T	8: 123,588,865 (GRCm39)	D313V	probably damaging	Het
Cfap157	A	G	2: 32,669,890 (GRCm39)	L231P	possibly damaging	Het
Chl1	T	G	6: 103,688,162 (GRCm39)	C1001G	probably damaging	Het
Cmtr2	A	G	8: 110,948,770 (GRCm39)	H360R	probably damaging	Het
Csmd1	C	T	8: 16,261,732 (GRCm39)	A922T	probably damaging	Het
Fancg	C	T	4: 43,010,116 (GRCm39)		probably benign	Het
Glt8d2	A	T	10: 82,488,403 (GRCm39)	S356T	unknown	Het
Gm19410	T	A	8: 36,269,386 (GRCm39)	C1074S	probably damaging	Het
Gm9195	C	T	14: 72,711,310 (GRCm39)	C376Y	possibly damaging	Het
Gnai3	G	A	3: 108,025,693 (GRCm39)	R129C		Het
Golph3	T	G	15: 12,343,404 (GRCm39)		probably null	Het
Hk1	C	A	10: 62,140,561 (GRCm39)	V105F	probably damaging	Het
Hoxd8	A	G	2: 74,536,001 (GRCm39)	Y37C	probably damaging	Het
Inava	T	A	1: 136,142,122 (GRCm39)	D659V	possibly damaging	Het
Jun	G	T	4: 94,939,234 (GRCm39)	P92Q	probably damaging	Het
Klhl14	C	T	18: 21,784,597 (GRCm39)	V277I	probably damaging	Het
Lrrc51	C	T	7: 101,569,843 (GRCm39)		probably null	Het
Man2c1	T	A	9: 57,045,100 (GRCm39)	Y429*	probably null	Het
Myo18a	T	A	11: 77,734,406 (GRCm39)	C1476S	probably benign	Het
Neb	G	C	2: 52,066,635 (GRCm39)	T6155R	probably damaging	Het
Niban3	C	G	8: 72,059,342 (GRCm39)	C568W	probably damaging	Het
Nuf2	T	C	1: 169,326,422 (GRCm39)	E443G	possibly damaging	Het
Or10j5	C	T	1: 172,784,511 (GRCm39)	H50Y	probably benign	Het
Or4c15	A	G	2: 88,760,434 (GRCm39)	V75A	probably benign	Het
Or5d37	A	T	2: 87,923,954 (GRCm39)	C109S	probably damaging	Het
Or7g32	A	G	9: 19,408,685 (GRCm39)	I214V	probably damaging	Het
Osmr	A	G	15: 6,856,603 (GRCm39)	S515P	probably damaging	Het
Pik3r5	T	C	11: 68,367,177 (GRCm39)	L84P	probably damaging	Het
Plcl1	T	C	1: 55,736,273 (GRCm39)	I538T	probably damaging	Het
Plxnb1	G	T	9: 108,929,929 (GRCm39)	V262L	probably damaging	Het
Pprc1	T	C	19: 46,057,804 (GRCm39)	S1320P	unknown	Het
Pramel47	A	G	5: 95,490,409 (GRCm39)	D347G	probably benign	Het
Prap1	G	A	7: 139,676,120 (GRCm39)		probably null	Het
Psg23	A	T	7: 18,348,699 (GRCm39)	V36D	probably damaging	Het
Ptgr1	A	G	4: 58,982,887 (GRCm39)	Y49H	probably damaging	Het
Ptprr	A	G	10: 116,087,104 (GRCm39)	T528A	probably benign	Het
Rapgef6	T	C	11: 54,525,787 (GRCm39)	S541P	unknown	Het
Rnf17	A	T	14: 56,753,895 (GRCm39)	D1534V	probably damaging	Het
Sdk1	T	G	5: 141,778,731 (GRCm39)	S236R	possibly damaging	Het
Sepsecs	A	G	5: 52,801,393 (GRCm39)	M423T	possibly damaging	Het
Serpina1f	T	G	12: 103,658,167 (GRCm39)	Y246S	probably benign	Het
Sftpb	T	A	6: 72,282,048 (GRCm39)	V46E	possibly damaging	Het
Slc4a1ap	G	A	5: 31,691,475 (GRCm39)	V424I	probably benign	Het
Slc5a4b	G	A	10: 75,946,742 (GRCm39)	T10M	probably benign	Het
Slc6a16	T	C	7: 44,922,063 (GRCm39)	W664R	probably damaging	Het
Snx8	T	C	5: 140,341,827 (GRCm39)	E138G	probably benign	Het
Sox6	T	C	7: 115,376,408 (GRCm39)	E108G	probably benign	Het
Sptan1	A	T	2: 29,870,209 (GRCm39)	I120F	probably damaging	Het
Sptbn4	T	C	7: 27,075,015 (GRCm39)	E1452G	possibly damaging	Het
Stac2	T	A	11: 97,930,452 (GRCm39)	E372V	probably damaging	Het
Taco1	A	T	11: 105,962,795 (GRCm39)	I161F	probably damaging	Het
Taf1d	C	A	9: 15,220,133 (GRCm39)	D127E	possibly damaging	Het
Tenm2	T	A	11: 36,097,803 (GRCm39)	N482Y	probably damaging	Het
Tenm3	A	G	8: 48,729,635 (GRCm39)	V1457A	possibly damaging	Het
Tmem200c	A	T	17: 69,148,671 (GRCm39)	H418L	probably benign	Het
Tmem81	T	C	1: 132,435,884 (GRCm39)	V230A	probably benign	Het
Tnn	C	T	1: 159,946,074 (GRCm39)	V915I	possibly damaging	Het
Trav8d-2	A	T	14: 53,280,154 (GRCm39)	Y48F	possibly damaging	Het
Trpm2	T	C	10: 77,801,894 (GRCm39)	N57S	probably benign	Het
Ttn	G	A	2: 76,598,383 (GRCm39)	T19510M	probably damaging	Het
Ubl7	T	C	9: 57,820,167 (GRCm39)	L73P	unknown	Het
Uso1	A	G	5: 92,347,734 (GRCm39)	D845G	possibly damaging	Het
Utrn	G	T	10: 12,277,126 (GRCm39)	P3397Q	possibly damaging	Het
Vmn2r60	AG	A	7: 41,845,158 (GRCm39)		probably null	Het

Other mutations in H2bc18

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01474:H2bc18	APN	3	96,177,125 (GRCm39)	unclassified	probably benign
R0357:H2bc18	UTSW	3	96,177,104 (GRCm39)	missense	probably null	0.04
R0882:H2bc18	UTSW	3	96,177,060 (GRCm39)	splice site	probably null
R0976:H2bc18	UTSW	3	96,177,402 (GRCm39)	missense	probably benign	0.19
R1473:H2bc18	UTSW	3	96,177,388 (GRCm39)	missense	probably damaging	1.00
R1507:H2bc18	UTSW	3	96,177,189 (GRCm39)	missense	probably damaging	1.00
R4503:H2bc18	UTSW	3	96,177,240 (GRCm39)	missense	possibly damaging	0.84
R4751:H2bc18	UTSW	3	96,176,467 (GRCm39)	unclassified	probably benign
R4808:H2bc18	UTSW	3	96,177,329 (GRCm39)	missense	probably benign	0.00
R6118:H2bc18	UTSW	3	96,177,267 (GRCm39)	missense	probably damaging	1.00
R6585:H2bc18	UTSW	3	96,177,413 (GRCm39)	missense	probably benign	0.17
R9093:H2bc18	UTSW	3	96,177,290 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- TAAGTACCGCATAGCAAGCCG -3'
(R):5'- GCGTGTTTAGCCAACTCTCC -3'

Sequencing Primer
(F):5'- CGCGCTGAAACAGTTCGTAG -3'
(R):5'- ACGCACGGCTGTCTGGATC -3'

Posted On

2019-10-17