Mutagenetix > Incidental Mutation

Incidental Mutation 'R0357:H2bc18'

29862

Institutional Source

Beutler Lab

Gene Symbol

H2bc18

Ensembl Gene

ENSMUSG00000105827

Gene Name

H2B clustered histone 18

Synonyms

H2b-616, Hist2h2bb

MMRRC Submission

038563-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.490) question?

Stock #

R0357 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96177068-96177448 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 96177104 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamine at position 13 (K13Q)

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 null
Transcript: ENSMUST00000177113
AA Change: K13Q

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: K13Q

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

0.1781

Coding Region Coverage

1x: 99.0%
3x: 97.9%
10x: 95.3%
20x: 89.3%

Validation Efficiency

99% (74/75)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcf2	T	C	5: 24,778,463 (GRCm39)	K232E	probably benign	Het
AI837181	C	T	19: 5,476,731 (GRCm39)	T298I	possibly damaging	Het
Alox12	T	C	11: 70,133,362 (GRCm39)	Y614C	probably damaging	Het
Amn	A	T	12: 111,240,575 (GRCm39)		probably null	Het
Ankrd33b	A	G	15: 31,305,272 (GRCm39)	S121P	probably benign	Het
Aox1	A	G	1: 58,131,675 (GRCm39)	Y1028C	probably damaging	Het
Asph	C	A	4: 9,453,314 (GRCm39)	R736L	probably benign	Het
Atp2a3	G	A	11: 72,861,757 (GRCm39)		probably null	Het
Cables2	T	C	2: 179,904,025 (GRCm39)		probably benign	Het
Catsperg2	A	T	7: 29,414,326 (GRCm39)	Y360N	possibly damaging	Het
Cdh4	T	C	2: 179,489,133 (GRCm39)	S282P	probably damaging	Het
Col5a3	C	T	9: 20,719,064 (GRCm39)		probably benign	Het
Ctso	A	T	3: 81,858,850 (GRCm39)		probably benign	Het
Cyp4f13	A	T	17: 33,151,625 (GRCm39)	Y125*	probably null	Het
Dapk1	T	A	13: 60,877,372 (GRCm39)	L537*	probably null	Het
Ddit4l	G	A	3: 137,331,946 (GRCm39)	R104Q	probably benign	Het
Def6	C	T	17: 28,442,909 (GRCm39)	H322Y	probably damaging	Het
Dnaaf9	A	T	2: 130,554,866 (GRCm39)		probably benign	Het
Dnah6	T	C	6: 73,165,342 (GRCm39)	N588D	probably benign	Het
Dzip1	T	A	14: 119,146,950 (GRCm39)	I320F	probably damaging	Het
Epb41l5	T	C	1: 119,536,934 (GRCm39)	H319R	probably damaging	Het
Erc2	A	G	14: 27,498,979 (GRCm39)	E285G	probably damaging	Het
Fat4	G	A	3: 38,945,376 (GRCm39)	G1423E	probably damaging	Het
Foxp2	C	T	6: 15,409,839 (GRCm39)	P480S	probably damaging	Het
Gadd45gip1	G	A	8: 85,560,762 (GRCm39)	A126T	probably damaging	Het
Gbp5	G	A	3: 142,211,172 (GRCm39)	D301N	probably benign	Het
Gm10360	T	C	6: 70,401,297 (GRCm39)		noncoding transcript	Het
Gm6471	T	A	7: 142,387,604 (GRCm39)		noncoding transcript	Het
Gm8674	T	A	13: 50,056,149 (GRCm39)		noncoding transcript	Het
Ift172	A	G	5: 31,415,244 (GRCm39)	S1322P	possibly damaging	Het
Ift80	A	T	3: 68,821,986 (GRCm39)	Y686*	probably null	Het
Insrr	A	C	3: 87,715,953 (GRCm39)		probably null	Het
Itprid1	T	A	6: 55,945,019 (GRCm39)	M580K	probably benign	Het
Krt87	C	T	15: 101,384,900 (GRCm39)	V399M	probably benign	Het
Macf1	T	C	4: 123,351,776 (GRCm39)	N3708S	probably damaging	Het
Matcap1	A	T	8: 106,011,699 (GRCm39)	V222E	probably damaging	Het
Mogat1	T	C	1: 78,488,677 (GRCm39)	S27P	probably benign	Het
Mrgpra4	A	T	7: 47,631,574 (GRCm39)	M9K	probably benign	Het
Mtus1	A	T	8: 41,536,563 (GRCm39)	S384R	possibly damaging	Het
Myo1a	T	A	10: 127,546,771 (GRCm39)	M306K	probably benign	Het
Noxa1	G	T	2: 24,975,862 (GRCm39)	D403E	probably damaging	Het
Ogdhl	T	C	14: 32,068,415 (GRCm39)	V884A	possibly damaging	Het
Or10ak12	A	C	4: 118,666,614 (GRCm39)	L149R	probably damaging	Het
Or2y1f	A	G	11: 49,184,613 (GRCm39)	N155S	probably damaging	Het
Or6k4	T	A	1: 173,964,865 (GRCm39)	L185*	probably null	Het
Or6n1	T	C	1: 173,916,675 (GRCm39)	V23A	possibly damaging	Het
Paxip1	G	A	5: 27,963,621 (GRCm39)		probably benign	Het
Paxx	T	A	2: 25,350,079 (GRCm39)	E145D	probably damaging	Het
Pde4d	T	C	13: 110,087,802 (GRCm39)	V560A	possibly damaging	Het
Pheta2	C	T	15: 82,227,517 (GRCm39)	A12V	probably damaging	Het
Plxnd1	C	T	6: 115,946,421 (GRCm39)	V847M	probably benign	Het
Polk	T	A	13: 96,641,105 (GRCm39)	M151L	probably damaging	Het
Ptprq	C	T	10: 107,522,060 (GRCm39)		probably benign	Het
Pum2	A	G	12: 8,771,785 (GRCm39)	Q371R	possibly damaging	Het
Reln	G	A	5: 22,155,820 (GRCm39)	A2224V	probably damaging	Het
Rmc1	T	C	18: 12,312,266 (GRCm39)	S169P	possibly damaging	Het
Scart1	T	G	7: 139,807,808 (GRCm39)	C660G	probably damaging	Het
Shroom1	A	G	11: 53,356,035 (GRCm39)	T362A	probably damaging	Het
Smarcd2	A	G	11: 106,158,158 (GRCm39)		probably null	Het
Spg11	A	C	2: 121,896,713 (GRCm39)		probably benign	Het
Tcaf3	T	A	6: 42,566,761 (GRCm39)	Y776F	probably damaging	Het
Thada	A	G	17: 84,538,364 (GRCm39)	V1548A	probably damaging	Het
Trpv2	C	T	11: 62,481,130 (GRCm39)	P410S	probably damaging	Het
Ube2u	G	T	4: 100,338,851 (GRCm39)	E39*	probably null	Het
Ulbp3	A	T	10: 3,070,307 (GRCm39)		noncoding transcript	Het
Ulbp3	A	G	10: 3,075,788 (GRCm39)		noncoding transcript	Het
Vmn2r2	C	T	3: 64,041,320 (GRCm39)		probably null	Het
Vmn2r24	TCC	TC	6: 123,792,369 (GRCm39)		probably null	Het
Wdr87-ps	A	T	7: 29,235,007 (GRCm39)		noncoding transcript	Het
Zfp110	A	G	7: 12,570,302 (GRCm39)	Y43C	probably damaging	Het
Zfp605	A	G	5: 110,272,245 (GRCm39)	T55A	probably benign	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
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
R7527:H2bc18	UTSW	3	96,177,186 (GRCm39)	missense	possibly damaging	0.94
R9093:H2bc18	UTSW	3	96,177,290 (GRCm39)	missense	probably benign	0.21

Predicted Primers

PCR Primer
(F):5'- ACGCTGACTCTGCTGTAAATCAACC -3'
(R):5'- TTGTAATGCGCCAGACGGGAAG -3'

Sequencing Primer
(F):5'- TCAACCAATAAAAATGGAATACCGTG -3'
(R):5'- GCGCTCGAAGATATCGTTCAC -3'

Posted On

2013-04-24