Mutagenetix > Incidental Mutation

Incidental Mutation 'F2404:H1f7'

177

Institutional Source

Beutler Lab

Gene Symbol

H1f7

Ensembl Gene

ENSMUSG00000048077

Gene Name

H1.7 linker histone

Synonyms

H1T2, 1700026P10Rik, H1-7, H1fnt

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

F2404 of strain feckless

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98153867-98155174 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 98155090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 20 (I20F)

Ref Sequence

ENSEMBL: ENSMUSP00000127616 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060855]

AlphaFold

Q8CJI4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000060855
AA Change: I20F

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: I20F

Domain	Start	End	E-Value	Type
low complexity region	134	245	N/A	INTRINSIC
low complexity region	253	276	N/A	INTRINSIC

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 87.2%
3x: 68.2%

Validation Efficiency

89% (81/91)

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene is intronless and encodes a replication-independent histone that is a member of the histone H1 family. This gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null male mice display reduced fertility with asthenozoospermia, oligozoospermia, and teratozoospermia. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted, knock-out(2)

Other mutations in this stock

Total: 8 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	G	3: 40,888,313 (GRCm39)	C386G	probably damaging	Het
AC091683.1	G	A	13: 50,054,528 (GRCm39)		noncoding transcript	Het
Adgrv1	G	A	13: 81,568,125 (GRCm39)	T5016M	probably benign	Het
Epha3	A	G	16: 63,366,531 (GRCm39)	L972P	probably benign	Het
Gpm6a	G	A	8: 55,511,917 (GRCm39)	D264N	probably damaging	Het
Pvr	A	T	7: 19,639,102 (GRCm39)	S393T	probably benign	Het
Rsbn1	T	A	3: 103,821,892 (GRCm39)	C3*	probably null	Het
Thoc2l	T	A	5: 104,668,096 (GRCm39)	W873R	possibly damaging	Homo

Other mutations in H1f7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01693:H1f7	APN	15	98,154,262 (GRCm39)	missense	unknown
IGL02088:H1f7	APN	15	98,155,059 (GRCm39)	missense	probably damaging	0.98
IGL02322:H1f7	APN	15	98,154,757 (GRCm39)	missense	possibly damaging	0.94
IGL02697:H1f7	APN	15	98,155,050 (GRCm39)	missense	probably benign	0.02
R0584:H1f7	UTSW	15	98,154,958 (GRCm39)	nonsense	probably null
R1022:H1f7	UTSW	15	98,154,636 (GRCm39)	missense	unknown
R1024:H1f7	UTSW	15	98,154,636 (GRCm39)	missense	unknown
R1462:H1f7	UTSW	15	98,154,454 (GRCm39)	missense	unknown
R1462:H1f7	UTSW	15	98,154,454 (GRCm39)	missense	unknown
R1665:H1f7	UTSW	15	98,154,796 (GRCm39)	missense	probably benign	0.00
R1733:H1f7	UTSW	15	98,154,016 (GRCm39)	missense	unknown
R2213:H1f7	UTSW	15	98,154,219 (GRCm39)	missense	unknown
R4683:H1f7	UTSW	15	98,154,921 (GRCm39)	missense	probably damaging	0.99
R4969:H1f7	UTSW	15	98,154,216 (GRCm39)	missense	unknown
R6241:H1f7	UTSW	15	98,154,652 (GRCm39)	missense	unknown
R6489:H1f7	UTSW	15	98,154,888 (GRCm39)	nonsense	probably null
R6703:H1f7	UTSW	15	98,155,153 (GRCm39)	start gained	probably benign
R7131:H1f7	UTSW	15	98,154,250 (GRCm39)	nonsense	probably null
R7750:H1f7	UTSW	15	98,154,565 (GRCm39)	missense	unknown
R9454:H1f7	UTSW	15	98,154,823 (GRCm39)	missense	probably benign	0.01
R9461:H1f7	UTSW	15	98,155,138 (GRCm39)	missense	probably damaging	0.99
Z1177:H1f7	UTSW	15	98,155,128 (GRCm39)	missense	probably damaging	1.00

Nature of Mutation

DNA sequencing using the SOLiD technique identified an A to T transversion at position 99 of the H1fnt transcript. The mutated nucleotide causes an isoleucine to phenylalanine substitution at amino acid 20 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).

Protein Function and Prediction

The H1fnt gene encodes a 398 amino acid testis-specific H1 histone. The protein specifically localizes to the chromatin domain at the apical pole of spermatids, and is required for proper cell structuring and DNA condensation (Uniprot Q8CJI4). Homozygous null male mice display reduced fertility with asthenozoospermia, oligozoospermia, and teratozoospermia.

The I20F change is predicted to be benign by the PolyPhen program.

Posted On

2010-04-16