Mutagenetix > Incidental Mutation

Incidental Mutation 'R5895:Hat1'

457430

Institutional Source

Beutler Lab

Gene Symbol

Hat1

Ensembl Gene

ENSMUSG00000027018

Gene Name

histone aminotransferase 1

Synonyms

KAT1, 2410071B14Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5895 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

71219604-71271966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71239357 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 43 (N43K)

Ref Sequence

ENSEMBL: ENSMUSP00000028408 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028408] [ENSMUST00000112122]

AlphaFold

Q8BY71

Predicted Effect

possibly damaging
Transcript: ENSMUST00000028408
AA Change: N43K

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: N43K

Domain	Start	End	E-Value	Type
Pfam:Hat1_N	23	184	1.3e-49	PFAM
coiled coil region	386	416	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000112122
AA Change: N43K

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: N43K

Domain	Start	End	E-Value	Type
Pfam:Hat1_N	22	184	4.4e-49	PFAM
coiled coil region	393	423	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000121697

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144888

Meta Mutation Damage Score

0.0683

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.3%
20x: 91.7%

Validation Efficiency

98% (64/65)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal, perinatal and neonatal lethality with impaired lung maturation, atelectasis, respiratory failure, craniofacial defects and decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,752,216 (GRCm39)	G426S	probably damaging	Het
Casp4	A	T	9: 5,328,573 (GRCm39)		probably benign	Het
Ccdc40	T	A	11: 119,144,229 (GRCm39)	F988Y	probably damaging	Het
Ccdc9b	T	C	2: 118,590,098 (GRCm39)	T249A	probably benign	Het
Chd5	T	A	4: 152,464,389 (GRCm39)	V1516E	probably benign	Het
Chrnd	T	A	1: 87,123,389 (GRCm39)		probably null	Het
Col5a3	C	A	9: 20,683,738 (GRCm39)	G1506V	unknown	Het
Csgalnact2	A	T	6: 118,106,215 (GRCm39)	C34*	probably null	Het
Ddx23	T	C	15: 98,549,832 (GRCm39)	K195E	probably benign	Het
Dhps	T	G	8: 85,800,880 (GRCm39)	S240A	probably benign	Het
Dnah5	T	A	15: 28,234,599 (GRCm39)		probably null	Het
Dock10	T	C	1: 80,514,676 (GRCm39)	T1414A	probably benign	Het
Dock4	A	G	12: 40,805,812 (GRCm39)	D928G	probably damaging	Het
Dolpp1	T	C	2: 30,285,658 (GRCm39)		probably benign	Het
Dse	T	A	10: 34,028,601 (GRCm39)	I830F	probably damaging	Het
Elmod1	C	T	9: 53,843,091 (GRCm39)	R29Q	probably damaging	Het
Ephx4	T	A	5: 107,577,518 (GRCm39)		probably null	Het
Evi5	A	T	5: 107,968,302 (GRCm39)	M215K	probably damaging	Het
Fbxl4	T	C	4: 22,390,678 (GRCm39)	L287P	probably damaging	Het
Gbp9	G	A	5: 105,230,724 (GRCm39)	S400L	probably damaging	Het
Gm6291	T	C	18: 6,371,365 (GRCm39)		noncoding transcript	Het
Gmcl1	A	T	6: 86,688,596 (GRCm39)	D301E	probably benign	Het
Gna14	C	T	19: 16,580,692 (GRCm39)	R177C	possibly damaging	Het
Golph3	C	T	15: 12,339,756 (GRCm39)	R90C	probably damaging	Het
Gpr142	T	A	11: 114,689,785 (GRCm39)	C12*	probably null	Het
Hivep1	A	T	13: 42,310,694 (GRCm39)	E978V	possibly damaging	Het
Hormad1	G	A	3: 95,467,044 (GRCm39)		probably null	Het
Kalrn	C	T	16: 33,795,805 (GRCm39)		probably benign	Het
Mars1	T	C	10: 127,132,418 (GRCm39)	T860A	probably benign	Het
Mdn1	A	T	4: 32,695,400 (GRCm39)	L1146F	probably damaging	Het
Met	A	G	6: 17,531,581 (GRCm39)	T620A	probably benign	Het
Mppe1	T	C	18: 67,358,834 (GRCm39)	E378G	probably benign	Het
Mybpc3	T	A	2: 90,955,010 (GRCm39)	V481D	probably damaging	Het
Myh14	A	T	7: 44,256,133 (GRCm39)	L1924Q	probably damaging	Het
Mylip	G	T	13: 45,562,178 (GRCm39)	E327*	probably null	Het
Naip1	C	T	13: 100,559,636 (GRCm39)	G1123R	probably benign	Het
Naip6	A	G	13: 100,452,500 (GRCm39)	V187A	possibly damaging	Het
Ncam1	T	A	9: 49,418,343 (GRCm39)	T986S	probably benign	Het
Or13p4	T	C	4: 118,547,314 (GRCm39)	I112V	probably damaging	Het
Or4x13	T	C	2: 90,231,800 (GRCm39)	I265T	probably benign	Het
Phactr2	C	T	10: 13,121,261 (GRCm39)	G480S	probably damaging	Het
Por	A	G	5: 135,744,838 (GRCm39)	I34V	probably benign	Het
Ppp2r5b	C	T	19: 6,284,764 (GRCm39)	R33H	probably damaging	Het
Prkdc	C	A	16: 15,570,693 (GRCm39)	Y2325*	probably null	Het
Prx	A	G	7: 27,214,709 (GRCm39)	E73G	probably damaging	Het
Rbms2	C	A	10: 127,981,556 (GRCm39)	A126S	possibly damaging	Het
Rhoq	C	T	17: 87,302,117 (GRCm39)	A111V	probably damaging	Het
Rpl14	T	A	9: 120,403,240 (GRCm39)		probably benign	Het
Serbp1	A	G	6: 67,249,870 (GRCm39)	*75W	probably null	Het
Sptbn1	C	A	11: 30,073,978 (GRCm39)	V1351F	probably damaging	Het
Supt16	A	G	14: 52,401,979 (GRCm39)	V897A	probably benign	Het
Tfdp1	T	A	8: 13,407,038 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,780,487 (GRCm39)	Y1088F	probably damaging	Het
Vmn2r105	G	T	17: 20,448,929 (GRCm39)	Q83K	probably benign	Het
Wdr76	A	T	2: 121,359,323 (GRCm39)	S221C	probably damaging	Het
Zfhx2	G	T	14: 55,303,348 (GRCm39)	F1545L	probably benign	Het
Zfp318	A	G	17: 46,709,959 (GRCm39)	I561V	probably damaging	Het

Other mutations in Hat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02728:Hat1	APN	2	71,251,604 (GRCm39)	missense	probably damaging	1.00
IGL02945:Hat1	APN	2	71,251,037 (GRCm39)	missense	probably benign	0.01
IGL02796:Hat1	UTSW	2	71,250,700 (GRCm39)	critical splice donor site	probably null
R0789:Hat1	UTSW	2	71,252,088 (GRCm39)	splice site	probably benign
R0907:Hat1	UTSW	2	71,250,961 (GRCm39)	nonsense	probably null
R1412:Hat1	UTSW	2	71,250,961 (GRCm39)	nonsense	probably null
R1571:Hat1	UTSW	2	71,264,519 (GRCm39)	missense	probably benign
R1868:Hat1	UTSW	2	71,251,627 (GRCm39)	nonsense	probably null
R1981:Hat1	UTSW	2	71,220,321 (GRCm39)	missense	probably benign	0.01
R2064:Hat1	UTSW	2	71,240,504 (GRCm39)	missense	possibly damaging	0.71
R2089:Hat1	UTSW	2	71,264,378 (GRCm39)	missense	probably benign	0.12
R2091:Hat1	UTSW	2	71,264,378 (GRCm39)	missense	probably benign	0.12
R2091:Hat1	UTSW	2	71,264,378 (GRCm39)	missense	probably benign	0.12
R4115:Hat1	UTSW	2	71,271,566 (GRCm39)	missense	probably benign	0.01
R5579:Hat1	UTSW	2	71,240,582 (GRCm39)	missense	possibly damaging	0.86
R5650:Hat1	UTSW	2	71,264,378 (GRCm39)	missense	probably benign	0.12
R5681:Hat1	UTSW	2	71,264,553 (GRCm39)	splice site	probably null
R6075:Hat1	UTSW	2	71,240,585 (GRCm39)	missense	probably benign	0.29
R6621:Hat1	UTSW	2	71,252,059 (GRCm39)	missense	probably benign	0.00
R7155:Hat1	UTSW	2	71,251,595 (GRCm39)	missense	possibly damaging	0.95
R7506:Hat1	UTSW	2	71,250,691 (GRCm39)	missense	probably damaging	1.00
R7644:Hat1	UTSW	2	71,240,525 (GRCm39)	missense	probably damaging	1.00
R8255:Hat1	UTSW	2	71,239,347 (GRCm39)	missense	probably damaging	1.00
R8890:Hat1	UTSW	2	71,269,137 (GRCm39)	missense	probably damaging	1.00
R9002:Hat1	UTSW	2	71,271,647 (GRCm39)	missense	probably damaging	1.00
R9387:Hat1	UTSW	2	71,264,512 (GRCm39)	missense	possibly damaging	0.62
R9786:Hat1	UTSW	2	71,250,959 (GRCm39)	missense	possibly damaging	0.45

Predicted Primers

PCR Primer
(F):5'- GCTTTTGATGCCGAAGCTTTAG -3'
(R):5'- GCAATGGCTAATACTGCAGTC -3'

Sequencing Primer
(F):5'- ATGCCGAAGCTTTAGTGTAAGG -3'
(R):5'- TGGCTAATACTGCAGTCAAAATTC -3'

Posted On

2017-02-15