Mutagenetix > Incidental Mutations

Incidental Mutation 'R1709:Hist1h3a'

190354

Institutional Source

Beutler Lab

Gene Symbol

Hist1h3a

Ensembl Gene

ENSMUSG00000069265

Gene Name

histone cluster 1, H3a

Synonyms

MMRRC Submission

039742-MU

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

R1709 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

23761853-23762386 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 23761981 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 125 (I125F)

Ref Sequence

ENSEMBL: ENSMUSP00000089293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964] [ENSMUST00000102965]

Predicted Effect

probably benign
Transcript: ENSMUST00000055770

SMART Domains

Protein: ENSMUSP00000062030
Gene: ENSMUSG00000049539

Domain	Start	End	E-Value	Type
H15	36	101	3.22e-22	SMART
low complexity region	120	213	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000091701
AA Change: I125F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000089293
Gene: ENSMUSG00000069265
AA Change: I125F

Domain	Start	End	E-Value	Type
H3	34	136	1.5e-75	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000102964

SMART Domains

Protein: ENSMUSP00000100029
Gene: ENSMUSG00000060093

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102965

SMART Domains

Protein: ENSMUSP00000100030
Gene: ENSMUSG00000069266

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139822

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. This structure consists of approximately 146 bp of DNA wrapped around a nucleosome, an 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-dependent histone that is a member of the histone H3 family. Transcripts from this gene lack polyA tails; instead, they contain a palindromic termination element. [provided by RefSeq, Aug 2015]

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	C	T	5: 9,440,726	R579*	probably null	Het
Aacs	A	G	5: 125,489,878	K152E	probably benign	Het
Adgrd1	T	C	5: 129,179,228	V641A	possibly damaging	Het
Adgrv1	A	T	13: 81,593,060	V95E	probably damaging	Het
Agbl5	G	A	5: 30,906,241	C872Y	probably damaging	Het
Aldh1a7	G	T	19: 20,715,952	T201K	probably damaging	Het
Aox1	C	T	1: 58,077,474	A788V	probably benign	Het
Apob	T	C	12: 8,009,306	V2563A	probably damaging	Het
Atcay	G	A	10: 81,213,231	T179I	probably damaging	Het
Atf5	A	T	7: 44,813,283	L139Q	probably benign	Het
Atp13a3	T	C	16: 30,315,841	T1205A	probably benign	Het
Atr	C	T	9: 95,871,076	T656I	probably benign	Het
Bloc1s3	T	C	7: 19,507,528	E25G	possibly damaging	Het
Brap	T	C	5: 121,665,290		probably null	Het
C6	G	T	15: 4,790,970	A488S	probably benign	Het
Ccin	T	C	4: 43,984,133	F180S	probably damaging	Het
Cd207	T	C	6: 83,672,836	I256V	possibly damaging	Het
Cdc42bpa	G	T	1: 180,067,224	C323F	probably damaging	Het
Cfap57	T	C	4: 118,571,704	T1022A	probably benign	Het
Cmtr2	A	T	8: 110,221,949	Q297L	probably benign	Het
Coro7	A	T	16: 4,634,441		probably null	Het
Cpsf2	T	A	12: 101,999,542	Y589N	probably damaging	Het
Cpxm2	T	C	7: 132,059,834	Y408C	probably damaging	Het
Crocc	A	G	4: 141,026,099		probably null	Het
Cryzl1	A	C	16: 91,712,236	F59C	probably damaging	Het
Csmd2	T	C	4: 128,496,195	V2241A	probably damaging	Het
Cxcl15	C	A	5: 90,801,416	H147N	unknown	Het
Dennd4a	A	G	9: 64,889,605	T860A	possibly damaging	Het
Dnah10	C	T	5: 124,760,091	P966L	probably damaging	Het
Dpp9	T	A	17: 56,194,431	M594L	probably benign	Het
Dspp	C	A	5: 104,175,724	N244K	probably damaging	Het
Efcab8	T	A	2: 153,814,370		probably null	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fbxw17	A	G	13: 50,431,657	M299V	probably benign	Het
Fbxw7	T	A	3: 84,976,352	I530N	probably damaging	Het
Gm13023	T	C	4: 143,793,546	V120A	possibly damaging	Het
Gp2	C	A	7: 119,451,585	D308Y	probably null	Het
Gpd2	G	A	2: 57,357,655	V537M	probably damaging	Het
Gpr18	T	A	14: 121,911,992	Y207F	probably damaging	Het
Grip1	A	T	10: 119,897,715	D20V	probably damaging	Het
Gzmf	A	C	14: 56,206,940	F59V	probably damaging	Het
Igfn1	T	C	1: 135,955,573	I2732V	probably benign	Het
Ipo8	A	T	6: 148,782,728	D855E	probably benign	Het
Klrk1	A	T	6: 129,614,719		probably null	Het
Megf11	A	G	9: 64,695,412	Y876C	probably damaging	Het
Mettl8	G	T	2: 70,982,151	Q12K	probably benign	Het
Mrgprf	T	C	7: 145,308,217	F172S	probably benign	Het
Mycbp2	G	A	14: 103,224,416	T1432I	probably damaging	Het
Nek11	A	C	9: 105,348,061	L84R	probably damaging	Het
Nlrp1b	T	C	11: 71,201,273	E9G	probably benign	Het
Nrxn1	T	C	17: 90,037,187	I433V	probably damaging	Het
Nup153	A	G	13: 46,693,974	C660R	probably damaging	Het
Olfr108	T	A	17: 37,446,200	Y226*	probably null	Het
Olfr1427	G	T	19: 12,098,881	P253T	probably damaging	Het
Olfr196	T	A	16: 59,167,901	M81L	probably benign	Het
Olfr447	T	C	6: 42,912,144	V207A	possibly damaging	Het
P2rx7	T	A	5: 122,670,465	N303K	possibly damaging	Het
Pank4	T	C	4: 154,970,047	L159P	probably damaging	Het
Pcdhb22	A	T	18: 37,518,500	H7L	probably benign	Het
Pdzd8	A	T	19: 59,301,339	I543N	probably benign	Het
Prrc2b	C	A	2: 32,194,461	R313S	probably damaging	Het
Rbm12b1	T	C	4: 12,145,827	C600R	probably benign	Het
Rem1	G	A	2: 152,634,535	V238M	probably damaging	Het
Rfx6	T	A	10: 51,678,402	M113K	possibly damaging	Het
Rlf	A	T	4: 121,149,823	D653E	probably benign	Het
Rnf130	A	G	11: 50,087,386	D258G	possibly damaging	Het
Robo2	A	G	16: 73,956,523	V822A	possibly damaging	Het
Rps6kc1	G	T	1: 190,800,336	Q490K	possibly damaging	Het
Scn9a	T	C	2: 66,483,506	Y1945C	probably damaging	Het
Setd2	T	A	9: 110,549,857	D913E	probably benign	Het
Sfr1	G	T	19: 47,735,003	E315D	possibly damaging	Het
Smarca5	G	A	8: 80,709,220	R763*	probably null	Het
Sugct	A	C	13: 17,672,566	I44S	probably damaging	Het
Syce1l	A	G	8: 113,654,030		probably null	Het
Tbc1d8b	A	G	X: 139,734,080	I654V	probably benign	Het
Tcf23	T	A	5: 30,973,508	Y163*	probably null	Het
Terf2ip	TG	T	8: 112,011,606		probably null	Het
Tmem158	T	C	9: 123,259,885	S221G	possibly damaging	Het
Tnrc6a	A	G	7: 123,169,982	T332A	probably benign	Het
Trappc4	T	C	9: 44,407,211	T31A	probably benign	Het
Trim27	T	C	13: 21,188,065		probably null	Het
Ttyh2	T	A	11: 114,708,475	L330Q	probably damaging	Het
Tubgcp3	A	T	8: 12,639,532	L578*	probably null	Het
Txndc11	C	A	16: 11,128,701	E83*	probably null	Het
Utp20	T	C	10: 88,749,297	K2635R	probably benign	Het
V1ra8	C	T	6: 90,203,322	T169I	probably damaging	Het
Vcl	G	A	14: 21,019,373	V706I	probably benign	Het
Vmn2r106	A	T	17: 20,279,111	D179E	probably benign	Het
Vmn2r80	T	C	10: 79,194,389	M683T	probably benign	Het
Xirp2	A	G	2: 67,509,871	I819V	probably benign	Het
Zfp735	T	C	11: 73,711,763	F511S	probably benign	Het
Zfp831	T	C	2: 174,645,890	V786A	probably benign	Het
Zfp992	T	A	4: 146,466,492	H223Q	probably benign	Het
Zfyve19	A	C	2: 119,210,819	Q72P	probably damaging	Het

Other mutations in Hist1h3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00942:Hist1h3a	APN	13	23761938	unclassified	probably benign
IGL00949:Hist1h3a	APN	13	23762031	missense	probably damaging	1.00
IGL02630:Hist1h3a	APN	13	23762248	missense	probably benign	0.07
IGL03252:Hist1h3a	APN	13	23761960	splice site	probably null
R8356:Hist1h3a	UTSW	13	23762100	missense	probably damaging	0.99
R8456:Hist1h3a	UTSW	13	23762100	missense	probably damaging	0.99
Z1177:Hist1h3a	UTSW	13	23762022	missense	probably damaging	1.00
Z1177:Hist1h3a	UTSW	13	23762250	missense	possibly damaging	0.70

Predicted Primers

PCR Primer
(F):5'- ACGCATATTCCACGGGTAAAACCAG -3'
(R):5'- AGATCGCGCAGGACTTCAAGAC -3'

Sequencing Primer
(F):5'- CAAGTTTTGGGGAATATCCACCG -3'
(R):5'- GGACTTCAAGACCGACCTG -3'

Posted On

2014-05-14