Mutagenetix > Incidental Mutation

Incidental Mutation 'R7317:H1f4'

563486

Institutional Source

Beutler Lab

Gene Symbol

H1f4

Ensembl Gene

ENSMUSG00000051627

Gene Name

H1.4 linker histone, cluster member

Synonyms

H1f4, H1-4, H1e, H1var2, Hist1h1e, H1s-4

MMRRC Submission

045369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7317 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

23805760-23806541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23806350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 44 (I44T)

Ref Sequence

ENSEMBL: ENSMUSP00000057308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051091] [ENSMUST00000062045] [ENSMUST00000091704]

AlphaFold

P43274

Predicted Effect

probably benign
Transcript: ENSMUST00000051091

SMART Domains

Protein: ENSMUSP00000061247
Gene: ENSMUSG00000047246

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	1.43e-72	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000062045
AA Change: I44T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000057308
Gene: ENSMUSG00000051627
AA Change: I44T

Domain	Start	End	E-Value	Type
low complexity region	5	15	N/A	INTRINSIC
H15	34	99	7.5e-23	SMART
low complexity region	116	219	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091704

SMART Domains

Protein: ENSMUSP00000089296
Gene: ENSMUSG00000047246

Domain	Start	End	E-Value	Type
low complexity region	2	18	N/A	INTRINSIC
H2B	28	124	1.43e-72	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

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, Aug 2015]
PHENOTYPE: Homozygotes for targeted null mutations are normal, but Hist1h1e/Hist1h1c double knockout males are significantly smaller than normal. The Hist1h1e/Hist1h1d/Hist1h1e triple knockout is lethal by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam22	G	A	5: 8,140,202 (GRCm39)	P832L	probably benign	Het
Adamts17	C	T	7: 66,490,304 (GRCm39)	R129*	probably null	Het
Alg5	G	T	3: 54,656,752 (GRCm39)	R321L	probably benign	Het
Amotl1	T	A	9: 14,486,515 (GRCm39)	T460S	probably benign	Het
Ankrd50	T	C	3: 38,537,332 (GRCm39)	E7G	possibly damaging	Het
Ap3b2	T	C	7: 81,110,776 (GRCm39)	T1000A	unknown	Het
Arap2	G	A	5: 62,807,067 (GRCm39)	T1200M	probably damaging	Het
Asb2	A	T	12: 103,299,616 (GRCm39)	I272N	probably damaging	Het
Bicd2	T	C	13: 49,531,784 (GRCm39)	L342P	probably damaging	Het
C1qtnf6	T	A	15: 78,409,206 (GRCm39)	I214F	probably damaging	Het
Cdc42bpg	T	A	19: 6,364,534 (GRCm39)	H587Q	probably benign	Het
Cfap70	T	A	14: 20,450,502 (GRCm39)	I1010F	possibly damaging	Het
Chd1	A	T	17: 15,962,536 (GRCm39)	K764N	possibly damaging	Het
Cluh	A	G	11: 74,556,530 (GRCm39)	D956G	possibly damaging	Het
Ehbp1l1	T	C	19: 5,770,730 (GRCm39)	D243G	probably benign	Het
Ercc4	T	C	16: 12,939,977 (GRCm39)	V169A	probably benign	Het
Erich6	T	C	3: 58,544,305 (GRCm39)	E94G	probably benign	Het
Fubp3	A	G	2: 31,494,624 (GRCm39)		probably null	Het
Gabbr1	C	T	17: 37,380,305 (GRCm39)	T736I	probably damaging	Het
Garre1	A	G	7: 33,963,072 (GRCm39)	V200A	probably benign	Het
Gm14496	T	A	2: 181,637,613 (GRCm39)	M229K	possibly damaging	Het
Gm4553	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	ACCCTTGCAGCCACCACAGGAGCCACAGCCCCCACAGGAGCTACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCC	7: 141,719,157 (GRCm39)		probably benign	Het
Gspt1	T	C	16: 11,040,521 (GRCm39)	T596A	probably benign	Het
Htr5b	T	A	1: 121,438,157 (GRCm39)	Y358F	probably damaging	Het
Il18r1	A	T	1: 40,513,992 (GRCm39)	Y66F	possibly damaging	Het
Il18rap	A	G	1: 40,564,536 (GRCm39)	T189A	probably damaging	Het
Irag2	G	A	6: 145,104,424 (GRCm39)	G164R	possibly damaging	Het
Itgav	G	T	2: 83,625,327 (GRCm39)	A771S	probably benign	Het
Klf11	T	C	12: 24,705,518 (GRCm39)	V324A	possibly damaging	Het
Krtap15-1	T	C	16: 88,626,193 (GRCm39)	C87R	probably benign	Het
Mapk8ip3	C	T	17: 25,120,692 (GRCm39)	G807D	probably benign	Het
Mbd5	A	G	2: 49,169,755 (GRCm39)	D1642G	probably benign	Het
Med15	G	T	16: 17,489,507 (GRCm39)	Q356K	unknown	Het
Mmp3	A	G	9: 7,446,937 (GRCm39)	Y39C	probably damaging	Het
Mon2	A	G	10: 122,849,851 (GRCm39)	S1149P	probably damaging	Het
Msh3	A	G	13: 92,422,512 (GRCm39)	I548T	probably damaging	Het
Noc2l	T	A	4: 156,323,673 (GRCm39)	V179E	possibly damaging	Het
Or4b1b	A	T	2: 90,112,748 (GRCm39)	M57K	probably damaging	Het
Or5k3	T	G	16: 58,969,684 (GRCm39)	M157R	possibly damaging	Het
Or5p64	G	T	7: 107,854,425 (GRCm39)	Q307K	probably benign	Het
Oxa1l	A	T	14: 54,598,312 (GRCm39)	M1L	probably benign	Het
Pcdhb10	A	T	18: 37,546,079 (GRCm39)	Q385L	possibly damaging	Het
Pdzd2	T	C	15: 12,592,329 (GRCm39)	K105R	probably damaging	Het
Pex1	A	T	5: 3,668,875 (GRCm39)	D582V	probably damaging	Het
Pheta1	A	T	5: 121,991,336 (GRCm39)	T233S	possibly damaging	Het
Pi4ka	A	G	16: 17,223,496 (GRCm39)		probably null	Het
Pigw	T	C	11: 84,768,066 (GRCm39)	N421S	probably benign	Het
Plek	T	C	11: 16,944,739 (GRCm39)	K97R	probably benign	Het
R3hcc1l	C	T	19: 42,571,979 (GRCm39)	R753*	probably null	Het
R3hdml	G	A	2: 163,344,367 (GRCm39)	W252*	probably null	Het
Septin12	T	C	16: 4,809,599 (GRCm39)	K238E	probably damaging	Het
Sgce	G	A	6: 4,691,615 (GRCm39)	T320I	probably benign	Het
Sidt2	A	T	9: 45,854,988 (GRCm39)	C562*	probably null	Het
Skint8	T	C	4: 111,796,717 (GRCm39)	C274R	possibly damaging	Het
Slc13a5	A	T	11: 72,135,953 (GRCm39)	M529K	probably damaging	Het
Smg8	T	G	11: 86,976,391 (GRCm39)	S397R	possibly damaging	Het
Spock3	G	T	8: 63,566,590 (GRCm39)	R68L	possibly damaging	Het
Stau2	T	A	1: 16,530,553 (GRCm39)	H122L	unknown	Het
Tent5a	G	C	9: 85,206,670 (GRCm39)	A376G	possibly damaging	Het
Tert	G	A	13: 73,790,495 (GRCm39)	R858H	probably damaging	Het
Tgm3	G	A	2: 129,890,211 (GRCm39)	R658Q	probably benign	Het
Tmc4	A	G	7: 3,672,918 (GRCm39)	I455T	probably benign	Het
Tmtc4	G	A	14: 123,215,593 (GRCm39)	P18S	probably benign	Het
Tnc	A	G	4: 63,890,959 (GRCm39)	I1641T	probably damaging	Het
Trav14-3	A	T	14: 54,000,951 (GRCm39)	N54I	probably damaging	Het
Ttll13	A	C	7: 79,903,911 (GRCm39)	K280Q	probably damaging	Het
Unc5c	T	A	3: 141,495,703 (GRCm39)	M524K	probably benign	Het
Unc93a	A	G	17: 13,335,171 (GRCm39)	F292L	probably benign	Het
Uso1	A	G	5: 92,321,851 (GRCm39)	N248S	possibly damaging	Het
Usp5	A	G	6: 124,803,281 (GRCm39)	L73P	probably damaging	Het
Utp20	T	A	10: 88,598,797 (GRCm39)	I60F	possibly damaging	Het
Vmn2r94	T	A	17: 18,463,882 (GRCm39)	I803F	probably benign	Het

Other mutations in H1f4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00777:H1f4	APN	13	23,806,005 (GRCm39)	unclassified	probably benign
IGL03354:H1f4	APN	13	23,806,060 (GRCm39)	unclassified	probably benign
PIT4469001:H1f4	UTSW	13	23,806,362 (GRCm39)	missense	probably damaging	1.00
R2339:H1f4	UTSW	13	23,805,943 (GRCm39)	unclassified	probably benign
R3110:H1f4	UTSW	13	23,805,829 (GRCm39)	unclassified	probably benign
R3112:H1f4	UTSW	13	23,805,829 (GRCm39)	unclassified	probably benign
R3757:H1f4	UTSW	13	23,806,240 (GRCm39)	nonsense	probably null
R3758:H1f4	UTSW	13	23,806,240 (GRCm39)	nonsense	probably null
R5116:H1f4	UTSW	13	23,806,270 (GRCm39)	missense	probably damaging	1.00
R6034:H1f4	UTSW	13	23,806,296 (GRCm39)	missense	probably damaging	1.00
R6034:H1f4	UTSW	13	23,806,296 (GRCm39)	missense	probably damaging	1.00
R7008:H1f4	UTSW	13	23,806,192 (GRCm39)	missense	probably damaging	1.00
R7051:H1f4	UTSW	13	23,806,422 (GRCm39)	missense	probably benign	0.00
R8220:H1f4	UTSW	13	23,805,922 (GRCm39)	missense	probably benign	0.23

Predicted Primers

PCR Primer
(F):5'- GAAGCCGCCTTCTTGTTGAG -3'
(R):5'- TCCGCCCTATATAAACGGGC -3'

Sequencing Primer
(F):5'- CCGCCTTCTTGTTGAGTTTGAAG -3'
(R):5'- CCTATATAAACGGGCGGGCG -3'

Posted On

2019-06-26