Mutagenetix > Incidental Mutation

Incidental Mutation 'R4032:H4c12'

313549

Institutional Source

Beutler Lab

Gene Symbol

H4c12

Ensembl Gene

ENSMUSG00000064288

Gene Name

H4 clustered histone 12

Synonyms

Hist1h4k

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.199) question?

Stock #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

21934364-21934675 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 21934588 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 30 (I30V)

Ref Sequence

ENSEMBL: ENSMUSP00000100048 (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 benign
Transcript: ENSMUST00000091709

SMART Domains

Protein: ENSMUSP00000089301
Gene: ENSMUSG00000095217

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102983
AA Change: I30V

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100048
Gene: ENSMUSG00000064288
AA Change: I30V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000198541

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

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 is intronless and encodes a replication-dependent histone that is a member of the histone H4 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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap17	G	T	7: 122,879,289 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,237,389 (GRCm39)	M846L	probably damaging	Het
Capn5	G	T	7: 97,778,453 (GRCm39)	Q389K	probably damaging	Het
Cdkl3	T	A	11: 51,902,118 (GRCm39)	I109N	probably damaging	Het
Cry2	T	C	2: 92,244,172 (GRCm39)	I334V	probably benign	Het
Cs	T	C	10: 128,196,913 (GRCm39)	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,346,355 (GRCm39)	S89P	probably benign	Het
Dync1h1	C	T	12: 110,584,483 (GRCm39)	Q629*	probably null	Het
Itpka	C	T	2: 119,573,082 (GRCm39)	P75S	probably benign	Het
Lyst	C	T	13: 13,791,250 (GRCm39)	H38Y	probably damaging	Het
Mansc4	T	C	6: 146,976,678 (GRCm39)	K313E	probably benign	Het
Megf6	T	A	4: 154,261,550 (GRCm39)	C58*	probably null	Het
Mtor	T	C	4: 148,621,209 (GRCm39)	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877 (GRCm38)		probably null	Het
Nfkb1	T	C	3: 135,300,110 (GRCm39)	S657G	possibly damaging	Het
Or10d5j	T	C	9: 39,867,629 (GRCm39)	T213A	probably benign	Het
Or2a25	A	T	6: 42,888,559 (GRCm39)	Y34F	probably benign	Het
Or4m1	T	A	14: 50,557,767 (GRCm39)	D175V	possibly damaging	Het
Or4n5	G	T	14: 50,132,433 (GRCm39)	H275Q	probably benign	Het
Or51f23	A	G	7: 102,453,396 (GRCm39)	K237R	probably benign	Het
Pabir1	C	T	19: 24,454,106 (GRCm39)	M205I	probably benign	Het
Pde1b	A	G	15: 103,429,753 (GRCm39)	D82G	probably damaging	Het
Pdzrn4	C	T	15: 92,667,414 (GRCm39)	T522M	probably damaging	Het
Ptpro	C	A	6: 137,438,740 (GRCm39)	N373K	probably damaging	Het
Ptprs	T	C	17: 56,720,386 (GRCm39)	Y1478C	probably damaging	Het
Sdc2	A	T	15: 33,017,323 (GRCm39)	I46F	probably damaging	Het
Sergef	C	A	7: 46,092,726 (GRCm39)	E428*	probably null	Het
Stk36	A	G	1: 74,665,207 (GRCm39)	S651G	probably benign	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt8a	C	A	3: 125,667,807 (GRCm39)	D345Y	probably damaging	Het
Usp44	A	G	10: 93,683,127 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,594,263 (GRCm39)	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,180,858 (GRCm39)	T239A	possibly damaging	Het
Zfp87	T	C	13: 74,520,449 (GRCm39)	T210A	possibly damaging	Het

Other mutations in H4c12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4377001:H4c12	UTSW	13	21,934,654 (GRCm39)	missense	unknown
R1931:H4c12	UTSW	13	21,934,682 (GRCm39)	splice site	probably null
R4445:H4c12	UTSW	13	21,934,513 (GRCm39)	missense	possibly damaging	0.64
R6699:H4c12	UTSW	13	21,934,674 (GRCm39)	start codon destroyed	probably null
R6838:H4c12	UTSW	13	21,934,375 (GRCm39)	missense	probably damaging	0.96
R9237:H4c12	UTSW	13	21,934,534 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TAGCCTCCGAATCCGTAGAG -3'
(R):5'- AGGTTCTCATTTCGGTCCGC -3'

Sequencing Primer
(F):5'- TCCGAATCCGTAGAGGGTGC -3'
(R):5'- GCCCGCCGCAGTATAAAAAGG -3'

Posted On

2015-04-30