Mutagenetix > Incidental Mutations

Incidental Mutation 'R0238:Hist1h1t'

66136

Institutional Source

Beutler Lab

Gene Symbol

Hist1h1t

Ensembl Gene

ENSMUSG00000036211

Gene Name

histone cluster 1, H1t

Synonyms

H1ft

MMRRC Submission

038476-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0238 (G1)

Quality Score

204

Status

Not validated

Chromosome

Chromosomal Location

23695814-23696725 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23696324 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 153 (K153N)

Ref Sequence

ENSEMBL: ENSMUSP00000037304 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000041052
AA Change: K153N

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000037304
Gene: ENSMUSG00000036211
AA Change: K153N

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

Meta Mutation Damage Score

0.1509

Coding Region Coverage

1x: 98.7%
3x: 97.4%
10x: 92.6%
20x: 76.9%

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: 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
Aar2	T	G	2: 156,550,973	V94G	probably benign	Het
Acp5	A	T	9: 22,129,922	S70T	possibly damaging	Het
Adcy1	C	G	11: 7,139,162	N525K	possibly damaging	Het
AI464131	A	T	4: 41,498,912	N239K	probably benign	Het
Aknad1	A	G	3: 108,781,239	M628V	probably benign	Het
Alg8	A	T	7: 97,383,684		probably null	Het
Cacna1d	A	G	14: 30,123,496	V572A	probably benign	Het
Ccdc158	A	C	5: 92,662,118	M177R	probably benign	Het
Ccdc191	A	T	16: 43,947,496	R678*	probably null	Het
Cdkn2d	C	A	9: 21,290,992		probably benign	Het
Cdx2	G	T	5: 147,303,287	T193K	probably damaging	Het
Cfap44	T	A	16: 44,422,318	M695K	probably benign	Het
Cfap70	A	C	14: 20,448,605	S5A	probably benign	Het
Chd9	T	C	8: 90,932,828	S139P	probably damaging	Het
Chmp7	A	G	14: 69,720,997	V241A	probably damaging	Het
Cnga1	A	G	5: 72,605,031	I380T	probably damaging	Het
Cts6	T	A	13: 61,201,819	E53D	probably damaging	Het
Dclk3	A	T	9: 111,482,628	N646I	probably damaging	Het
Dnhd1	A	G	7: 105,721,531	S4673G	probably benign	Het
Dock4	G	T	12: 40,737,540	S818I	probably damaging	Het
Dysf	C	T	6: 84,064,479	Q156*	probably null	Het
Fam163b	T	C	2: 27,112,634	N117S	probably damaging	Het
Fam89a	A	G	8: 124,741,232	Y114H	probably damaging	Het
Flcn	T	C	11: 59,801,076	N249S	probably benign	Het
Gm20422	T	C	8: 69,766,715	Y53C	probably damaging	Het
Gnai1	A	G	5: 18,273,550	S206P	probably damaging	Het
Hal	T	C	10: 93,503,482	S478P	possibly damaging	Het
Haus3	G	A	5: 34,166,256	P337S	possibly damaging	Het
Hectd1	T	A	12: 51,769,318	M1324L	possibly damaging	Het
Hspa9	A	T	18: 34,946,646	Y243*	probably null	Het
Htr3a	T	C	9: 48,906,386	T96A	probably benign	Het
Ift140	C	A	17: 25,045,523	C557*	probably null	Het
Jph3	A	G	8: 121,753,720	Q379R	possibly damaging	Het
Kcnb1	A	G	2: 167,104,969	V653A	probably benign	Het
Kif14	A	G	1: 136,527,393	E1551G	probably damaging	Het
Krt17	G	A	11: 100,260,878	R30*	probably null	Het
Lamb3	A	T	1: 193,321,053	D100V	probably damaging	Het
Map2	A	G	1: 66,416,106	D1385G	probably damaging	Het
Map3k21	A	G	8: 125,944,970	D999G	possibly damaging	Het
Marf1	T	C	16: 14,151,283	I109V	probably benign	Het
Mcam	T	G	9: 44,140,205		probably null	Het
Med18	T	C	4: 132,460,026	H99R	probably damaging	Het
Mettl25	C	T	10: 105,826,525	V195I	probably damaging	Het
Myh8	A	G	11: 67,301,692	T1466A	probably benign	Het
Myo1e	A	T	9: 70,342,126	I503F	possibly damaging	Het
Myo3b	T	A	2: 70,105,425	C61S	probably benign	Het
Nf1	A	T	11: 79,418,574	K438M	possibly damaging	Het
Nlrp9c	A	G	7: 26,378,012	S727P	possibly damaging	Het
Nmbr	C	T	10: 14,770,395	Q338*	probably null	Het
Nt5e	A	G	9: 88,367,332	S440G	possibly damaging	Het
Nubp2	T	C	17: 24,884,471	E144G	probably damaging	Het
Olfr1126	T	C	2: 87,458,037	F291L	probably benign	Het
Olfr593	G	A	7: 103,212,726	V289M	possibly damaging	Het
Olfr694	A	G	7: 106,689,255	Y159H	probably benign	Het
Otogl	T	A	10: 107,806,696	N1291I	probably damaging	Het
Pa2g4	T	C	10: 128,563,642	K51R	probably benign	Het
Pcdhb12	A	G	18: 37,436,727	I309V	probably benign	Het
Pck1	T	G	2: 173,157,068	I373S	possibly damaging	Het
Pga5	A	G	19: 10,669,453	Y305H	probably damaging	Het
Plxnd1	G	T	6: 115,968,793	D906E	probably benign	Het
Ppfia4	T	C	1: 134,329,189	E98G	possibly damaging	Het
Rab39	G	A	9: 53,706,030	T29I	probably damaging	Het
Raet1e	C	A	10: 22,180,862	H112Q	possibly damaging	Het
Rars2	T	C	4: 34,645,838	Y252H	probably damaging	Het
Rars2	A	C	4: 34,656,030	Q421P	probably benign	Het
Rasa2	A	T	9: 96,568,407	D479E	probably damaging	Het
Rbl2	A	T	8: 91,106,507	T689S	probably damaging	Het
Rims4	C	T	2: 163,864,025	V230M	probably benign	Het
Skp2	A	C	15: 9,127,884		probably null	Het
Slc35f4	A	T	14: 49,304,256	I347N	possibly damaging	Het
Slc4a2	A	T	5: 24,436,274		probably null	Het
Slc52a3	T	C	2: 152,008,156	*461Q	probably null	Het
Slc6a1	G	A	6: 114,302,800	V142I	probably benign	Het
Susd5	A	G	9: 114,096,909	*620W	probably null	Het
Timm21	T	C	18: 84,947,666	N239S	probably damaging	Het
Tmem63c	T	C	12: 87,075,639	W404R	probably damaging	Het
Tnrc6b	A	G	15: 80,887,864	D1118G	probably damaging	Het
Traf2	G	C	2: 25,537,126	A71G	possibly damaging	Het
Trim54	A	G	5: 31,134,119	M195V	probably benign	Het
Trip11	C	T	12: 101,884,728	E741K	probably damaging	Het
Trp73	AGCTGCTGCTGCTGCTGCTG	AGCTGCTGCTGCTGCTG	4: 154,062,524		probably benign	Het
Trpm5	G	T	7: 143,082,958	T414N	probably damaging	Het
Vps51	G	T	19: 6,071,437	S185*	probably null	Het
Zfp329	G	T	7: 12,810,829	T256K	probably damaging	Het
Zfp729b	A	G	13: 67,591,903	Y748H	probably damaging	Het
Zfp777	T	C	6: 48,024,969	E773G	probably damaging	Het

Other mutations in Hist1h1t

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01011:Hist1h1t	APN	13	23696049	missense	probably damaging	0.98
FR4304:Hist1h1t	UTSW	13	23695920	unclassified	probably benign
FR4342:Hist1h1t	UTSW	13	23695913	unclassified	probably benign
FR4548:Hist1h1t	UTSW	13	23695920	unclassified	probably benign
R0167:Hist1h1t	UTSW	13	23695903	missense	probably benign	0.02
R0238:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R0564:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R0726:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R0827:Hist1h1t	UTSW	13	23696221	missense	probably benign	0.01
R0972:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R1128:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R1129:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R1130:Hist1h1t	UTSW	13	23696324	missense	possibly damaging	0.92
R5652:Hist1h1t	UTSW	13	23696236	missense	probably benign	0.01
R5827:Hist1h1t	UTSW	13	23696202	missense	possibly damaging	0.91
R6538:Hist1h1t	UTSW	13	23695921	missense	probably benign	0.06
R7729:Hist1h1t	UTSW	13	23696472	missense	possibly damaging	0.93
R7774:Hist1h1t	UTSW	13	23696200	missense	possibly damaging	0.91

Predicted Primers

Posted On

2013-08-19