Mutagenetix > Incidental Mutation

Incidental Mutation 'R4597:H1f5'

344466

Institutional Source

Beutler Lab

Gene Symbol

H1f5

Ensembl Gene

ENSMUSG00000058773

Gene Name

H1.5 linker histone, cluster member

Synonyms

Hist1h1b, H1f5, H1s-3, H1B, H1.5

MMRRC Submission

041813-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.388) question?

Stock #

R4597 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21964053-21964795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 21964681 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 15 (V15E)

Ref Sequence

ENSEMBL: ENSMUSP00000079356 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000080511] [ENSMUST00000189457]

AlphaFold

P43276

Predicted Effect

probably damaging
Transcript: ENSMUST00000080511
AA Change: V15E

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000079356
Gene: ENSMUSG00000058773
AA Change: V15E

Domain	Start	End	E-Value	Type
low complexity region	3	14	N/A	INTRINSIC
H15	34	99	5.02e-24	SMART
low complexity region	116	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000189457

SMART Domains

Protein: ENSMUSP00000139663
Gene: ENSMUSG00000101972

Domain	Start	End	E-Value	Type
H3	34	136	1.5e-75	SMART

Meta Mutation Damage Score

0.0976

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.8%

Validation Efficiency

96% (67/70)

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins responsible for 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 H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Sep 2015]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931422A03Rik	T	A	2: 103,856,500 (GRCm39)		probably benign	Het
Aadacl2fm3	T	A	3: 59,784,214 (GRCm39)	M229K	possibly damaging	Het
Adh5	T	C	3: 138,151,118 (GRCm39)	V27A	probably damaging	Het
Ank2	A	T	3: 126,781,800 (GRCm39)	D843E	probably damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Arid2	A	G	15: 96,268,737 (GRCm39)	N950S	probably damaging	Het
Arl1	A	T	10: 88,566,608 (GRCm39)		probably benign	Het
Bcl3	T	G	7: 19,546,428 (GRCm39)	I136L	probably damaging	Het
Car9	T	A	4: 43,509,138 (GRCm39)	S235R	probably damaging	Het
Carnmt1	G	T	19: 18,648,451 (GRCm39)	G30W	probably damaging	Het
Casp12	C	T	9: 5,348,941 (GRCm39)	T101I	possibly damaging	Het
Cdh23	A	G	10: 60,244,823 (GRCm39)	L1026P	probably damaging	Het
Clec10a	A	T	11: 70,060,806 (GRCm39)	Y186F	probably damaging	Het
Col22a1	G	T	15: 71,836,511 (GRCm39)	A508E	possibly damaging	Het
Crocc	G	C	4: 140,747,088 (GRCm39)	S1573R	probably damaging	Het
Cttnbp2nl	G	T	3: 104,913,191 (GRCm39)	T231K	possibly damaging	Het
Drd4	T	C	7: 140,874,392 (GRCm39)	V319A	probably damaging	Het
Ehbp1l1	T	C	19: 5,767,955 (GRCm39)	E1116G	possibly damaging	Het
Fam83d	T	C	2: 158,627,142 (GRCm39)	V277A	possibly damaging	Het
Fga	G	T	3: 82,938,542 (GRCm39)	G306*	probably null	Het
Fkbp9	A	G	6: 56,809,367 (GRCm39)	Y59C	probably damaging	Het
Frmpd1	A	G	4: 45,274,441 (GRCm39)	T450A	probably benign	Het
Gabbr1	A	G	17: 37,367,791 (GRCm39)	M414V	possibly damaging	Het
Gm16506	A	G	14: 43,962,572 (GRCm39)	F112L	unknown	Het
Gm27047	T	C	6: 130,607,299 (GRCm39)		noncoding transcript	Het
Gm4353	T	A	7: 115,682,847 (GRCm39)	K245*	probably null	Het
Gm4950	A	T	18: 51,998,865 (GRCm39)	I30N	probably benign	Het
H2-M10.2	T	C	17: 36,596,285 (GRCm39)	T187A	probably benign	Het
H60c	A	T	10: 3,209,968 (GRCm39)	N106K	possibly damaging	Het
Hoxa6	T	C	6: 52,185,387 (GRCm39)		probably null	Het
Ighv1-74	A	G	12: 115,766,276 (GRCm39)	C115R	probably damaging	Het
Il17a	G	A	1: 20,801,217 (GRCm39)		probably null	Het
Itga9	T	C	9: 118,672,582 (GRCm39)	Y199H	probably damaging	Het
Itpr3	C	T	17: 27,312,257 (GRCm39)	R554C	probably damaging	Het
Kcnc3	T	A	7: 44,245,240 (GRCm39)	M510K	probably damaging	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kif26b	A	T	1: 178,744,358 (GRCm39)	S1485C	probably damaging	Het
Klhl2	C	A	8: 65,207,421 (GRCm39)	G313W	probably damaging	Het
Klhl32	C	T	4: 24,629,339 (GRCm39)	S476N	probably benign	Het
Krt1	C	T	15: 101,756,063 (GRCm39)	E386K	possibly damaging	Het
Lats1	T	C	10: 7,567,510 (GRCm39)	S94P	probably benign	Het
Ltf	G	A	9: 110,852,001 (GRCm39)	C146Y	probably damaging	Het
Mars1	A	G	10: 127,136,322 (GRCm39)	L501P	probably damaging	Het
Myh2	A	C	11: 67,080,244 (GRCm39)	I1153L	probably benign	Het
Ncstn	A	T	1: 171,895,823 (GRCm39)	Y522*	probably null	Het
Nipal4	A	G	11: 46,042,156 (GRCm39)	V175A	probably damaging	Het
Or7e169	T	C	9: 19,756,987 (GRCm39)	I309M	probably benign	Het
Pcdha1	C	G	18: 37,064,959 (GRCm39)	A541G	possibly damaging	Het
Pex11g	A	G	8: 3,514,043 (GRCm39)	Y40H	probably damaging	Het
Pira13	T	A	7: 3,825,154 (GRCm39)	Y496F	possibly damaging	Het
Qrfprl	T	C	6: 65,424,408 (GRCm39)		probably null	Het
Rin2	G	T	2: 145,702,825 (GRCm39)	R507L	probably benign	Het
Sh2b2	T	C	5: 136,260,616 (GRCm39)	D200G	probably damaging	Het
Smg7	C	A	1: 152,716,052 (GRCm39)		probably null	Het
Snx17	T	C	5: 31,355,857 (GRCm39)		probably benign	Het
Sos1	T	C	17: 80,741,255 (GRCm39)	Y510C	probably benign	Het
Spata31d1c	T	A	13: 65,183,427 (GRCm39)	L323*	probably null	Het
Supt16	C	T	14: 52,411,046 (GRCm39)	G686D	probably damaging	Het
Szt2	C	T	4: 118,229,878 (GRCm39)	R2751H	unknown	Het
Tnfsf8	A	G	4: 63,755,337 (GRCm39)	L95P	probably damaging	Het
Vmn2r17	A	G	5: 109,577,428 (GRCm39)	H493R	probably benign	Het
Zfp770	C	T	2: 114,027,251 (GRCm39)	A273T	possibly damaging	Het

Other mutations in H1f5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03026:H1f5	APN	13	21,964,117 (GRCm39)	unclassified	probably benign
R1104:H1f5	UTSW	13	21,964,451 (GRCm39)	missense	possibly damaging	0.66
R1295:H1f5	UTSW	13	21,964,169 (GRCm39)	missense	probably benign	0.23
R3120:H1f5	UTSW	13	21,964,215 (GRCm39)	missense	probably benign	0.23
R3147:H1f5	UTSW	13	21,964,285 (GRCm39)	unclassified	probably benign
R4222:H1f5	UTSW	13	21,964,147 (GRCm39)	unclassified	probably benign
R6289:H1f5	UTSW	13	21,964,609 (GRCm39)	missense	probably damaging	1.00
Z1176:H1f5	UTSW	13	21,964,264 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGCTCACCAGACTCTTGAGC -3'
(R):5'- ATTGTAACCTTGAGTCGCCGC -3'

Sequencing Primer
(F):5'- CTTCTCCACATCGTAGCCACCAG -3'
(R):5'- GATTGGCCGCTCCACCAATC -3'

Posted On

2015-09-25