Mutagenetix > Incidental Mutation

Incidental Mutation 'R5681:Hat1'

443008

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: 0.955) question?

Stock #

R5681 (G1)

Quality Score

210

Status

Not validated

Chromosome

Chromosomal Location

71219604-71271966 bp(+) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

A to G at 71264553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000107750 (fasta)

Gene Model

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

AlphaFold

Q8BY71

Predicted Effect

probably null
Transcript: ENSMUST00000028408

SMART Domains

Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018

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 null
Transcript: ENSMUST00000112122

SMART Domains

Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018

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: ENSMUST00000145147

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 97.0%
20x: 94.2%

Validation Efficiency

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acoxl	T	C	2: 127,814,559 (GRCm39)	F45S	possibly damaging	Het
Adora2b	T	A	11: 62,140,067 (GRCm39)	V47E	probably damaging	Het
Amdhd2	A	G	17: 24,375,014 (GRCm39)	I396T	probably damaging	Het
Arhgap5	G	A	12: 52,566,562 (GRCm39)	D1178N	probably benign	Het
Atp10d	T	C	5: 72,404,289 (GRCm39)		probably benign	Het
Baiap3	A	G	17: 25,468,347 (GRCm39)	S264P	probably damaging	Het
Brinp3	A	T	1: 146,777,484 (GRCm39)	I644F	probably benign	Het
Ccdc168	A	T	1: 44,100,624 (GRCm39)	V158D	possibly damaging	Het
Ccdc66	T	C	14: 27,208,698 (GRCm39)	R675G	probably benign	Het
Cnr2	T	G	4: 135,644,000 (GRCm39)	M26R	probably damaging	Het
Col6a2	A	T	10: 76,445,085 (GRCm39)		probably null	Het
Cux1	A	G	5: 136,337,038 (GRCm39)	W696R	probably damaging	Het
D6Ertd527e	A	G	6: 87,088,188 (GRCm39)	N117S	unknown	Het
Dnah12	T	C	14: 26,537,452 (GRCm39)	C2234R	probably benign	Het
Dnhd1	G	A	7: 105,352,416 (GRCm39)	R2523Q	probably damaging	Het
Dock2	T	G	11: 34,199,836 (GRCm39)	I1405L	probably benign	Het
Dsg1c	T	C	18: 20,416,270 (GRCm39)	F724L	probably damaging	Het
Elapor2	T	A	5: 9,509,308 (GRCm39)		probably null	Het
Enoph1	T	C	5: 100,210,136 (GRCm39)		probably null	Het
Epha10	A	T	4: 124,796,359 (GRCm39)	Q356L	unknown	Het
Fbln2	G	T	6: 91,248,778 (GRCm39)	V1148L	probably damaging	Het
Firrm	T	C	1: 163,789,654 (GRCm39)	N627S	probably damaging	Het
Gp2	C	T	7: 119,051,517 (GRCm39)	V233M	possibly damaging	Het
Gtf2ird1	T	A	5: 134,392,172 (GRCm39)	S800C	probably damaging	Het
Hpdl	A	T	4: 116,678,039 (GRCm39)	S141T	probably benign	Het
Klhl29	A	G	12: 5,140,669 (GRCm39)	S658P	possibly damaging	Het
Lifr	T	A	15: 7,220,565 (GRCm39)	I1065N	probably damaging	Het
Lrrn2	G	T	1: 132,864,899 (GRCm39)		probably benign	Het
Marchf9	T	A	10: 126,894,172 (GRCm39)	I144F	probably benign	Het
Mtnr1a	A	G	8: 45,540,974 (GRCm39)	I312V	possibly damaging	Het
Ngf	T	A	3: 102,427,669 (GRCm39)	F139L	probably damaging	Het
Nipbl	T	C	15: 8,330,866 (GRCm39)	I2318V	probably benign	Het
Nkpd1	C	T	7: 19,257,498 (GRCm39)	Q276*	probably null	Het
Nphs1	A	G	7: 30,186,050 (GRCm39)	D1227G	probably benign	Het
Olfm3	C	A	3: 114,915,924 (GRCm39)	N285K	probably benign	Het
Or1j1	C	A	2: 36,702,693 (GRCm39)	S137I	probably benign	Het
Or4f60	T	A	2: 111,902,722 (GRCm39)	I69F	probably benign	Het
Or7g35	G	A	9: 19,496,195 (GRCm39)	D121N	probably damaging	Het
Or8b12i	A	G	9: 20,082,091 (GRCm39)	Y259H	probably damaging	Het
Or8b39	C	T	9: 37,996,927 (GRCm39)	S265F	possibly damaging	Het
Osbp2	A	G	11: 3,813,486 (GRCm39)	S128P	probably benign	Het
Otop2	A	T	11: 115,217,685 (GRCm39)	M174L	probably damaging	Het
Pard3	A	G	8: 128,115,914 (GRCm39)	T668A	possibly damaging	Het
Pkhd1	T	C	1: 20,617,685 (GRCm39)	T967A	possibly damaging	Het
Pls1	A	G	9: 95,669,065 (GRCm39)	V52A	probably damaging	Het
Ptcd3	T	C	6: 71,884,643 (GRCm39)	K64R	probably damaging	Het
Pxn	T	C	5: 115,682,593 (GRCm39)	W69R	possibly damaging	Het
Rai14	T	C	15: 10,575,206 (GRCm39)	D584G	probably damaging	Het
Safb	G	A	17: 56,906,000 (GRCm39)		probably benign	Het
Serinc2	A	C	4: 130,158,869 (GRCm39)	L10R	probably damaging	Het
Serpinb12	A	T	1: 106,874,431 (GRCm39)	H52L	probably benign	Het
Serpinb9h	G	A	13: 33,579,812 (GRCm39)	C20Y	probably damaging	Het
Serpinf2	A	G	11: 75,326,765 (GRCm39)	Y273H	probably damaging	Het
Slc2a10	T	A	2: 165,356,660 (GRCm39)	S107T	probably benign	Het
Slc41a3	T	C	6: 90,617,928 (GRCm39)	L318P	probably damaging	Het
Slc6a3	A	T	13: 73,686,854 (GRCm39)	I74F	probably damaging	Het
Snrnp200	G	A	2: 127,067,055 (GRCm39)	G788D	probably damaging	Het
Snx7	A	G	3: 117,640,272 (GRCm39)	I79T	probably benign	Het
Sox11	G	T	12: 27,391,823 (GRCm39)	D195E	probably benign	Het
Ssc4d	A	G	5: 135,999,074 (GRCm39)	L43P	probably damaging	Het
Tab2	A	G	10: 7,795,837 (GRCm39)	I215T	probably damaging	Het
Ttn	C	T	2: 76,660,942 (GRCm39)	V7422I	possibly damaging	Het
Unc13c	A	T	9: 73,453,357 (GRCm39)		probably null	Het
Wdr17	T	C	8: 55,115,904 (GRCm39)	D633G	probably damaging	Het
Wdsub1	A	T	2: 59,683,239 (GRCm39)	M445K	probably damaging	Het
Xpc	A	G	6: 91,481,102 (GRCm39)	F257L	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
R5895:Hat1	UTSW	2	71,239,357 (GRCm39)	missense	possibly damaging	0.67
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'- ATTGTGTTGGGTAAAGACAGTACTG -3'
(R):5'- AGATTGTACTGCATTTCCTTATGGG -3'

Sequencing Primer
(F):5'- GATCCGTCCAGAAGCTAT -3'
(R):5'- GACAACTTTCTGAAGCTGGC -3'

Posted On

2016-11-09