Mutagenetix > Incidental Mutation

Incidental Mutation 'R5652:H1f6'

441511

Institutional Source

Beutler Lab

Gene Symbol

H1f6

Ensembl Gene

ENSMUSG00000036211

Gene Name

H1.6 linker histone, cluster member

Synonyms

H1ft, H1t, Hist1h1t

MMRRC Submission

043298-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5652 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

23879794-23880528 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 23880219 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 124 (K124R)

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 benign
Transcript: ENSMUST00000041052
AA Change: K124R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000037304
Gene: ENSMUSG00000036211
AA Change: K124R

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

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.0%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc4	T	C	14: 118,856,339 (GRCm39)	I334V	probably benign	Het
Adamts5	C	T	16: 85,696,156 (GRCm39)	A334T	probably damaging	Het
Adcy4	G	C	14: 56,010,900 (GRCm39)	F672L	probably benign	Het
Adgrl1	A	G	8: 84,656,444 (GRCm39)	Y254C	probably damaging	Het
Adnp2	A	G	18: 80,174,065 (GRCm39)	S115P	probably damaging	Het
Aox1	A	T	1: 58,134,356 (GRCm39)	S1110C	probably damaging	Het
Arhgap44	G	T	11: 64,915,064 (GRCm39)	N401K	probably damaging	Het
Atp23	A	T	10: 126,735,494 (GRCm39)	N63K	possibly damaging	Het
Atp8b1	G	C	18: 64,664,453 (GRCm39)	I1238M	probably benign	Het
Ccdc38	A	T	10: 93,391,448 (GRCm39)		probably null	Het
Celsr2	T	C	3: 108,304,051 (GRCm39)	D2364G	probably null	Het
Celsr3	G	A	9: 108,715,671 (GRCm39)	D2116N	probably benign	Het
Cenpf	A	G	1: 189,389,279 (GRCm39)	S1518P	probably damaging	Het
Clcn3	C	A	8: 61,372,387 (GRCm39)	V758L	possibly damaging	Het
Cmklr2	A	G	1: 63,222,626 (GRCm39)	V203A	probably benign	Het
Ctsf	T	C	19: 4,908,505 (GRCm39)	L288P	probably damaging	Het
Cwh43	A	G	5: 73,575,484 (GRCm39)	T334A	probably damaging	Het
Cyp3a57	A	T	5: 145,286,135 (GRCm39)		probably null	Het
Ddr1	C	T	17: 35,997,400 (GRCm39)	A531T	probably benign	Het
Dennd1a	A	G	2: 37,691,138 (GRCm39)	I260T	probably benign	Het
Dgkh	T	C	14: 78,865,201 (GRCm39)	H47R	probably damaging	Het
Dync1h1	G	A	12: 110,632,422 (GRCm39)	V4514I	possibly damaging	Het
Dync2h1	A	T	9: 7,116,638 (GRCm39)	M66K	probably benign	Het
Fam186a	T	G	15: 99,843,253 (GRCm39)	Y997S	possibly damaging	Het
Fam8a1	T	A	13: 46,827,814 (GRCm39)	L334H	probably damaging	Het
Fat4	C	T	3: 39,057,117 (GRCm39)	T4271I	probably damaging	Het
Fdxacb1	T	A	9: 50,679,705 (GRCm39)	L41Q	probably damaging	Het
Fgfr2	C	T	7: 129,863,593 (GRCm39)	V18M	probably damaging	Het
Gpa33	A	C	1: 165,992,714 (GRCm39)		probably null	Het
Gpr107	A	G	2: 31,075,601 (GRCm39)	I371V	probably benign	Het
Hectd2	T	C	19: 36,581,720 (GRCm39)	V420A	probably damaging	Het
Iglc3	A	G	16: 18,884,420 (GRCm39)		probably benign	Het
Igtp	A	G	11: 58,097,455 (GRCm39)	T209A	probably benign	Het
Itgb7	T	A	15: 102,124,638 (GRCm39)	N793I	possibly damaging	Het
Kansl1	G	A	11: 104,228,992 (GRCm39)	R870C	probably damaging	Het
Kcnh6	C	T	11: 105,899,811 (GRCm39)	R27C	probably damaging	Het
Kif2b	T	A	11: 91,466,656 (GRCm39)	E542D	possibly damaging	Het
Klhl24	C	A	16: 19,938,997 (GRCm39)	Y517*	probably null	Het
Klhl25	A	G	7: 75,515,895 (GRCm39)	D267G	probably benign	Het
Krr1	C	A	10: 111,813,288 (GRCm39)	F195L	possibly damaging	Het
Lsr	C	T	7: 30,658,456 (GRCm39)	G95D	probably damaging	Het
Matcap2	A	G	9: 22,335,786 (GRCm39)	T135A	probably benign	Het
Med15	A	T	16: 17,473,055 (GRCm39)	I504N	probably damaging	Het
Mug1	A	G	6: 121,817,140 (GRCm39)	R70G	probably benign	Het
Mypn	T	A	10: 62,971,580 (GRCm39)	Q820L	probably damaging	Het
Nlrp4f	A	T	13: 65,330,803 (GRCm39)	H863Q	probably benign	Het
Nudt9	G	A	5: 104,207,646 (GRCm39)	V213M	probably benign	Het
Or5ak4	T	A	2: 85,161,717 (GRCm39)	N175I	probably damaging	Het
Or5k14	A	G	16: 58,692,847 (GRCm39)	L222P	probably damaging	Het
Or7g16	A	G	9: 18,726,922 (GRCm39)	S223P	probably damaging	Het
Or8c13	T	C	9: 38,092,111 (GRCm39)	T3A	probably benign	Het
Orc2	A	G	1: 58,505,231 (GRCm39)	F475L	probably damaging	Het
Oxa1l	T	A	14: 54,604,289 (GRCm39)	L183*	probably null	Het
Pcdh20	T	C	14: 88,704,760 (GRCm39)	T847A	probably damaging	Het
Pcdha6	G	A	18: 37,101,889 (GRCm39)		probably null	Het
Pip5k1a	T	C	3: 94,974,750 (GRCm39)	N376S	probably benign	Het
Pkd1l1	T	C	11: 8,859,889 (GRCm39)	E573G	probably benign	Het
Pkp1	T	A	1: 135,810,335 (GRCm39)		probably null	Het
Pum1	T	C	4: 130,491,438 (GRCm39)	I643T	possibly damaging	Het
Rapgef3	A	G	15: 97,656,318 (GRCm39)	S328P	probably benign	Het
Raver1	A	G	9: 21,001,608 (GRCm39)	V75A	probably damaging	Het
Rbm28	T	C	6: 29,135,408 (GRCm39)	E511G	probably damaging	Het
Satb1	T	A	17: 52,049,823 (GRCm39)	T544S	probably damaging	Het
Sdcbp2	T	C	2: 151,431,135 (GRCm39)	V248A	probably benign	Het
Sema7a	A	G	9: 57,867,942 (GRCm39)	D506G	probably damaging	Het
Septin8	A	G	11: 53,428,044 (GRCm39)	E286G	probably damaging	Het
Sh3pxd2b	A	G	11: 32,372,812 (GRCm39)	I660V	probably damaging	Het
Stk38l	G	T	6: 146,674,826 (GRCm39)	D364Y	possibly damaging	Het
Sycp2	T	C	2: 178,000,498 (GRCm39)		probably null	Het
Tbc1d31	T	A	15: 57,815,062 (GRCm39)	S580T	probably damaging	Het
Tcerg1l	G	A	7: 137,881,775 (GRCm39)	R305C	probably damaging	Het
Tek	T	A	4: 94,743,561 (GRCm39)	Y859N	probably damaging	Het
Tjp1	A	T	7: 64,962,191 (GRCm39)		probably null	Het
Tmem132d	A	T	5: 127,861,859 (GRCm39)	I754N	possibly damaging	Het
Togaram1	G	A	12: 65,063,424 (GRCm39)	V1580I	probably benign	Het
Troap	A	G	15: 98,980,145 (GRCm39)	T442A	probably benign	Het
Ttn	A	T	2: 76,712,097 (GRCm39)		probably benign	Het
Twnk	T	A	19: 44,995,732 (GRCm39)	V55E	possibly damaging	Het
Uggt1	A	T	1: 36,255,234 (GRCm39)	Y225*	probably null	Het
Vmn2r109	A	G	17: 20,760,781 (GRCm39)	*859Q	probably null	Het
Vmn2r17	A	T	5: 109,577,430 (GRCm39)	I494L	probably benign	Het
Vmn2r88	T	C	14: 51,656,029 (GRCm39)	V746A	probably damaging	Het
Yae1d1	A	G	13: 18,166,291 (GRCm39)	L57P	probably damaging	Het
Zfp26	G	A	9: 20,349,137 (GRCm39)	R476*	probably null	Het
Zmynd8	T	A	2: 165,649,618 (GRCm39)	Q816L	probably damaging	Het
Zswim8	A	T	14: 20,763,495 (GRCm39)	H414L	possibly damaging	Het

Other mutations in H1f6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:H1f6	APN	13	23,880,032 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- TTCCAAGCTGATTCCTGAGGC -3'
(R):5'- GCTTTTACGTTGCTGCACG -3'

Sequencing Primer
(F):5'- TTGCTGCCCTGAAGAAAGC -3'
(R):5'- GTTGCTGCACGCCCTTG -3'

Posted On

2016-11-08