Mutagenetix > Incidental Mutation

Incidental Mutation 'R9557:H1f0'

720831

Institutional Source

Beutler Lab

Gene Symbol

H1f0

Ensembl Gene

ENSMUSG00000096210

Gene Name

H1.0 linker histone

Synonyms

H1-0, H1fv, D130017D06Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9557 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

78912650-78914704 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 78912947 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 9 (P9L)

Ref Sequence

ENSEMBL: ENSMUSP00000137309 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006544] [ENSMUST00000171999] [ENSMUST00000180086]

AlphaFold

P10922

Predicted Effect

probably benign
Transcript: ENSMUST00000006544

SMART Domains

Protein: ENSMUSP00000006544
Gene: ENSMUSG00000006378

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	63	405	8.8e-72	PFAM
Pfam:Aminotran_5	77	236	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000171999

SMART Domains

Protein: ENSMUSP00000131649
Gene: ENSMUSG00000116378

Domain	Start	End	E-Value	Type
Pfam:Aminotran_1_2	63	379	2e-64	PFAM
Pfam:Aminotran_5	77	236	4.7e-8	PFAM
Pfam:Cys_Met_Meta_PP	93	240	2.4e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000180086
AA Change: P9L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000137309
Gene: ENSMUSG00000096210
AA Change: P9L

Domain	Start	End	E-Value	Type
H15	22	87	2.82e-27	SMART
low complexity region	108	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229276

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 99.0%

Validation Efficiency

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. [provided by RefSeq, Oct 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal with no apparent anatomic or histologic abnormalities or defects in cell division patterns. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	A	3: 59,659,160 (GRCm39)	N204K	possibly damaging	Het
Aadacl2fm3	T	G	3: 59,784,654 (GRCm39)	F376V	possibly damaging	Het
Abca5	A	G	11: 110,197,109 (GRCm39)	L523P	probably damaging	Het
Adcy5	T	C	16: 35,091,327 (GRCm39)	V590A	probably damaging	Het
Alg1	A	T	16: 5,057,820 (GRCm39)	D238V	probably damaging	Het
Ankrd55	C	A	13: 112,485,347 (GRCm39)	P187H	probably damaging	Het
Aox4	G	T	1: 58,285,095 (GRCm39)	V616F	probably benign	Het
Apc	C	A	18: 34,451,412 (GRCm39)	H2769Q	probably damaging	Het
Bach1	C	G	16: 87,516,603 (GRCm39)	S381R	probably benign	Het
C2cd2l	G	A	9: 44,231,127 (GRCm39)	A20V	probably benign	Het
Catsperg1	T	C	7: 28,904,223 (GRCm39)	D266G	probably damaging	Het
Ces4a	A	G	8: 105,869,527 (GRCm39)	S233G	possibly damaging	Het
Comp	T	A	8: 70,829,854 (GRCm39)	D359E	probably benign	Het
Cyp2b13	A	C	7: 25,780,123 (GRCm39)	N91T	probably benign	Het
Dhx9	A	C	1: 153,333,292 (GRCm39)	M1151R	probably benign	Het
Dync2i2	G	A	2: 29,922,534 (GRCm39)	A366V	possibly damaging	Het
E2f5	G	T	3: 14,653,311 (GRCm39)	L142F	probably benign	Het
Egflam	G	T	15: 7,241,656 (GRCm39)	N917K	probably damaging	Het
Ercc6l2	C	T	13: 63,989,936 (GRCm39)	R254C	probably damaging	Het
Erh	G	A	12: 80,689,571 (GRCm39)	P18S	probably benign	Het
Fam110b	T	C	4: 5,799,064 (GRCm39)	S161P	probably damaging	Het
Fam210a	TAAAATGTTCCAAA	TAAA	18: 68,408,848 (GRCm39)		probably null	Het
Fbn1	T	C	2: 125,180,458 (GRCm39)	I1775V	probably damaging	Het
Fry	C	A	5: 150,389,781 (GRCm39)	Q137K		Het
Gm4787	A	T	12: 81,426,074 (GRCm39)	L28*	probably null	Het
Gpr179	A	G	11: 97,235,029 (GRCm39)	F434L	probably damaging	Het
Grik2	T	C	10: 49,404,105 (GRCm39)	Y252C	probably damaging	Het
Hectd4	A	G	5: 121,459,617 (GRCm39)	T829A	possibly damaging	Het
Ing4	A	G	6: 125,025,354 (GRCm39)	E245G	probably benign	Het
Lgr4	C	T	2: 109,827,084 (GRCm39)	A196V	probably damaging	Het
Lrrc51	T	A	7: 101,562,329 (GRCm39)	K176N	probably benign	Het
Lrrc9	T	A	12: 72,532,981 (GRCm39)	M950K	probably benign	Het
Lrrd1	A	T	5: 3,901,432 (GRCm39)	D579V	probably damaging	Het
Magi3	C	T	3: 103,922,473 (GRCm39)	A1415T	probably benign	Het
Magi3	A	C	3: 103,924,933 (GRCm39)	I1072S	probably damaging	Het
Mast1	G	A	8: 85,657,474 (GRCm39)	T101I	probably damaging	Het
Mccc1	A	T	3: 36,049,976 (GRCm39)	V72E	probably damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Megf8	A	T	7: 25,058,511 (GRCm39)	Q2169L	possibly damaging	Het
Mllt6	A	G	11: 97,564,310 (GRCm39)	D342G	probably benign	Het
Mycbp2	T	A	14: 103,372,697 (GRCm39)	T4050S	probably benign	Het
Nbeal1	A	G	1: 60,274,509 (GRCm39)	T307A	probably benign	Het
Or11g27	A	G	14: 50,771,552 (GRCm39)	T228A	probably benign	Het
Or52d3	T	C	7: 104,229,768 (GRCm39)	I305T	probably damaging	Het
Plat	T	C	8: 23,262,669 (GRCm39)	F125L	probably benign	Het
Ppm1b	T	A	17: 85,301,501 (GRCm39)	M127K	probably benign	Het
Ppp4r1	C	A	17: 66,110,258 (GRCm39)	D52E	probably benign	Het
Rasgrp3	T	G	17: 75,807,139 (GRCm39)	I201S	probably damaging	Het
Rfpl4b	T	A	10: 38,696,870 (GRCm39)	M244L	probably benign	Het
Rhbdl3	A	T	11: 80,244,277 (GRCm39)	H328L	probably benign	Het
Rsad2	T	A	12: 26,495,521 (GRCm39)	I325F	probably damaging	Het
Shank2	T	C	7: 143,963,847 (GRCm39)	V485A	probably benign	Het
Slc6a5	A	G	7: 49,561,474 (GRCm39)	N2S	probably benign	Het
Sox4	G	T	13: 29,136,913 (GRCm39)	A31E	probably damaging	Het
Suv39h2	A	T	2: 3,475,451 (GRCm39)	C2S		Het
Tet2	A	G	3: 133,191,566 (GRCm39)	I956T	probably benign	Het
Topaz1	A	G	9: 122,578,530 (GRCm39)	D480G	possibly damaging	Het
Ttn	C	T	2: 76,715,357 (GRCm39)	E7912K	unknown	Het
Ugt1a6b	G	T	1: 88,034,820 (GRCm39)	G53*	probably null	Het
Vmn1r173	T	C	7: 23,402,209 (GRCm39)	V148A	probably damaging	Het
Vnn1	G	A	10: 23,776,723 (GRCm39)	C358Y	probably damaging	Het
Wdr89	A	G	12: 75,679,666 (GRCm39)	V196A	probably damaging	Het
Wfdc6a	T	A	2: 164,425,758 (GRCm39)	D71V	possibly damaging	Het
Zc3h3	T	C	15: 75,711,145 (GRCm39)	K439E	probably damaging	Het
Zfp367	T	C	13: 64,300,586 (GRCm39)	H73R	probably damaging	Het
Zfp955a	G	A	17: 33,461,107 (GRCm39)	R342*	probably null	Het

Other mutations in H1f0

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02830:H1f0	APN	15	78,913,511 (GRCm39)	unclassified	probably benign
R1720:H1f0	UTSW	15	78,913,195 (GRCm39)	missense	possibly damaging	0.82
R5054:H1f0	UTSW	15	78,912,973 (GRCm39)	missense	probably damaging	0.99
R6125:H1f0	UTSW	15	78,913,070 (GRCm39)	missense	probably damaging	1.00
R7350:H1f0	UTSW	15	78,913,103 (GRCm39)	missense	probably damaging	1.00
R7404:H1f0	UTSW	15	78,913,080 (GRCm39)	nonsense	probably null
R9432:H1f0	UTSW	15	78,912,947 (GRCm39)	missense	probably damaging	1.00
R9433:H1f0	UTSW	15	78,912,947 (GRCm39)	missense	probably damaging	1.00
R9453:H1f0	UTSW	15	78,912,947 (GRCm39)	missense	probably damaging	1.00
R9749:H1f0	UTSW	15	78,913,217 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- TTTGCTCGGCGGAAGAAACAC -3'
(R):5'- ACAACTTGATCTGGGAGTCGG -3'

Sequencing Primer
(F):5'- GCTAAATACCCGGATGCGC -3'
(R):5'- TGGGAGTCGGCGTTCTCAC -3'

Posted On

2022-08-09