Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01011:H1f6'

53930

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

H1f6

Ensembl Gene

ENSMUSG00000036211

Gene Name

H1.6 linker histone, cluster member

Synonyms

H1ft, H1t, Hist1h1t

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01011

Quality Score

Status

Chromosome

Chromosomal Location

23879794-23880528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 23880032 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 62 (L62F)

Ref Sequence

ENSEMBL: ENSMUSP00000037304 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018246] [ENSMUST00000041052] [ENSMUST00000102967]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000018246

SMART Domains

Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102

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: ENSMUST00000041052
AA Change: L62F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000037304
Gene: ENSMUSG00000036211
AA Change: L62F

Domain	Start	End	E-Value	Type
H15	37	102	5.15e-21	SMART
low complexity region	111	135	N/A	INTRINSIC
low complexity region	142	161	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000102967

SMART Domains

Protein: ENSMUSP00000100032
Gene: ENSMUSG00000060678

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

Coding Region Coverage

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: Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	T	9: 57,165,529 (GRCm39)	C282S	probably damaging	Het
Abca12	T	C	1: 71,302,791 (GRCm39)	I2143V	probably benign	Het
Adgrg6	A	C	10: 14,285,542 (GRCm39)	I1148S	probably damaging	Het
Aox4	C	T	1: 58,279,934 (GRCm39)	R517*	probably null	Het
Arnt2	T	A	7: 83,935,037 (GRCm39)	D289V	probably benign	Het
Atad2b	A	G	12: 5,015,984 (GRCm39)	N570S	probably benign	Het
Aven	G	A	2: 112,460,130 (GRCm39)	D208N	possibly damaging	Het
Bcl9l	A	G	9: 44,416,476 (GRCm39)	D183G	possibly damaging	Het
Cd300lf	A	G	11: 115,015,159 (GRCm39)	S144P	probably benign	Het
Chd8	C	A	14: 52,468,989 (GRCm39)	G543V	possibly damaging	Het
Chrm2	A	G	6: 36,501,373 (GRCm39)	N410S	probably benign	Het
Clip4	A	G	17: 72,156,934 (GRCm39)	I590V	probably benign	Het
Cnbp	C	T	6: 87,822,682 (GRCm39)	R27H	probably benign	Het
Col4a3	T	C	1: 82,660,022 (GRCm39)	V889A	unknown	Het
Cxcl5	T	C	5: 90,908,382 (GRCm39)		probably benign	Het
Dennd6a	G	T	14: 26,324,209 (GRCm39)	V171F	probably damaging	Het
Dhx38	T	C	8: 110,289,323 (GRCm39)	I26V	probably benign	Het
Dscaml1	A	G	9: 45,594,970 (GRCm39)	D691G	possibly damaging	Het
Etfdh	A	T	3: 79,519,368 (GRCm39)		probably benign	Het
Fbn2	G	A	18: 58,228,312 (GRCm39)		probably benign	Het
Foxp2	T	A	6: 15,438,018 (GRCm39)	*715R	probably null	Het
Ftl1	A	T	7: 45,108,070 (GRCm39)	D65E	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gm20721	A	G	2: 174,187,531 (GRCm39)	D1049G	probably damaging	Het
Gm28778	T	C	1: 53,338,277 (GRCm39)	V47A	probably benign	Het
Gm5414	T	C	15: 101,536,569 (GRCm39)	S19G	probably benign	Het
Hdac7	T	A	15: 97,691,816 (GRCm39)	E835D	possibly damaging	Het
Hspg2	C	T	4: 137,286,646 (GRCm39)	T3663I	probably damaging	Het
Kdm4d	A	T	9: 14,375,515 (GRCm39)	D114E	probably benign	Het
Kif5a	A	T	10: 127,075,065 (GRCm39)	V516E	probably benign	Het
Lrrtm1	A	G	6: 77,221,218 (GRCm39)		probably null	Het
Miga1	G	T	3: 151,982,327 (GRCm39)	T519K	probably benign	Het
Mtfr1l	G	A	4: 134,256,511 (GRCm39)	P182S	probably damaging	Het
Myo15a	A	G	11: 60,367,818 (GRCm39)	I193V	probably benign	Het
Myo1e	T	C	9: 70,223,871 (GRCm39)		probably benign	Het
Or13a26	A	T	7: 140,284,350 (GRCm39)	Y62F	probably damaging	Het
Or1e1c	A	T	11: 73,265,833 (GRCm39)	Q86L	probably benign	Het
Or5h22	T	A	16: 58,894,793 (GRCm39)	T217S	probably benign	Het
Pias1	T	C	9: 62,820,137 (GRCm39)	T277A	probably benign	Het
Skic3	G	A	13: 76,270,784 (GRCm39)	C127Y	probably damaging	Het
Slamf6	T	A	1: 171,765,666 (GRCm39)	H263Q	probably benign	Het
Snrnp48	A	G	13: 38,404,740 (GRCm39)	D202G	probably damaging	Het
Snx13	T	A	12: 35,148,279 (GRCm39)	D269E	probably damaging	Het
Tiam2	A	T	17: 3,465,303 (GRCm39)	D344V	probably benign	Het
Tmem62	G	T	2: 120,809,700 (GRCm39)	K127N	possibly damaging	Het
Trav15-1-dv6-1	C	T	14: 53,797,492 (GRCm39)	T46I	possibly damaging	Het
Trav16d-dv11	C	T	14: 53,285,041 (GRCm39)	T39M	possibly damaging	Het
Trio	T	C	15: 27,736,575 (GRCm39)	D2794G	probably damaging	Het
Trpc7	C	T	13: 56,952,353 (GRCm39)	G551D	probably damaging	Het
Ttn	A	G	2: 76,644,634 (GRCm39)	V11294A	possibly damaging	Het
Ubap2	G	A	4: 41,195,328 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,916,563 (GRCm39)	Q915*	probably null	Het
Ubfd1	A	G	7: 121,677,695 (GRCm39)	E340G	probably benign	Het
Vil1	T	C	1: 74,474,046 (GRCm39)		probably null	Het
Vmn1r6	T	G	6: 56,979,529 (GRCm39)	L42V	probably benign	Het
Vps13c	A	G	9: 67,834,237 (GRCm39)	T1635A	probably damaging	Het
Zfhx3	T	A	8: 109,520,226 (GRCm39)	H449Q	probably benign	Het
Zfp750	A	T	11: 121,403,922 (GRCm39)	S318T	probably benign	Het

Other mutations in H1f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:H1f6	UTSW	13	23,879,903 (GRCm39)	unclassified	probably benign
FR4342:H1f6	UTSW	13	23,879,896 (GRCm39)	unclassified	probably benign
FR4548:H1f6	UTSW	13	23,879,903 (GRCm39)	unclassified	probably benign
R0167:H1f6	UTSW	13	23,879,886 (GRCm39)	missense	probably benign	0.02
R0238:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R0238:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R0564:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R0726:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R0827:H1f6	UTSW	13	23,880,204 (GRCm39)	missense	probably benign	0.01
R0972:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R1128:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R1129:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R1130:H1f6	UTSW	13	23,880,307 (GRCm39)	missense	possibly damaging	0.92
R5652:H1f6	UTSW	13	23,880,219 (GRCm39)	missense	probably benign	0.01
R5827:H1f6	UTSW	13	23,880,185 (GRCm39)	missense	possibly damaging	0.91
R6538:H1f6	UTSW	13	23,879,904 (GRCm39)	missense	probably benign	0.06
R7729:H1f6	UTSW	13	23,880,455 (GRCm39)	missense	possibly damaging	0.93
R7774:H1f6	UTSW	13	23,880,183 (GRCm39)	missense	possibly damaging	0.91
R9229:H1f6	UTSW	13	23,880,029 (GRCm39)	missense	probably damaging	1.00
R9723:H1f6	UTSW	13	23,879,906 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-28