Mutagenetix > Incidental Mutation

Incidental Mutation 'R5650:Hat1'

501312

Institutional Source

Beutler Lab

Gene Symbol

Hat1

Ensembl Gene

ENSMUSG00000027018

Gene Name

histone aminotransferase 1

Synonyms

KAT1, 2410071B14Rik

MMRRC Submission

043296-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5650 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71219604-71271966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71264378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 272 (V272A)

Ref Sequence

ENSEMBL: ENSMUSP00000107750 (fasta)

Gene Model

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

AlphaFold

Q8BY71

Predicted Effect

probably benign
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 benign
Transcript: ENSMUST00000112122
AA Change: V272A

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: V272A

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.5%
3x: 98.9%
10x: 97.6%
20x: 96.0%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alms1	T	C	6: 85,597,253 (GRCm39)	L693P	probably damaging	Het
Ankrd11	T	C	8: 123,614,136 (GRCm39)	T2524A	probably damaging	Het
Cdr2	A	G	7: 120,557,559 (GRCm39)	I322T	probably damaging	Het
Cep76	A	T	18: 67,758,136 (GRCm39)	C385S	probably damaging	Het
Cercam	C	T	2: 29,771,827 (GRCm39)	S549F	probably damaging	Het
Coro1b	C	T	19: 4,200,610 (GRCm39)	T209I	possibly damaging	Het
Dlec1	G	T	9: 118,972,662 (GRCm39)	E1462*	probably null	Het
Dlgap5	C	T	14: 47,649,196 (GRCm39)	G166D	probably benign	Het
Ep400	C	T	5: 110,843,818 (GRCm39)		probably null	Het
Fam3d	A	T	14: 8,357,142 (GRCm38)	V96E	probably damaging	Het
Fgr	T	G	4: 132,727,533 (GRCm39)	V478G	probably benign	Het
Fmo9	T	A	1: 166,491,015 (GRCm39)	I437F	probably damaging	Het
Gabrd	A	T	4: 155,473,081 (GRCm39)	V64E	probably damaging	Het
Gsap	A	G	5: 21,456,051 (GRCm39)	Y385C	probably damaging	Het
H4c4	A	T	13: 23,765,778 (GRCm39)	N65I	possibly damaging	Het
Helz	T	A	11: 107,485,972 (GRCm39)	M127K	probably null	Het
Hsp90b1	G	A	10: 86,529,367 (GRCm39)	A310V	probably damaging	Het
Hspa4	T	C	11: 53,155,919 (GRCm39)	Y662C	probably damaging	Het
Kif7	C	T	7: 79,360,727 (GRCm39)	R216H	probably damaging	Het
Klhl33	A	G	14: 51,129,285 (GRCm39)	I648T	probably benign	Het
Knl1	T	A	2: 118,912,031 (GRCm39)	L1716*	probably null	Het
Lgals9	T	A	11: 78,863,980 (GRCm39)	N55I	probably damaging	Het
Lmo7	A	T	14: 102,136,110 (GRCm39)	T606S	probably damaging	Het
Mdn1	A	G	4: 32,667,467 (GRCm39)		probably null	Het
Mip	A	T	10: 128,061,934 (GRCm39)	I62F	possibly damaging	Het
Naa35	G	A	13: 59,770,680 (GRCm39)		probably benign	Het
Npepl1	T	C	2: 173,963,329 (GRCm39)	F454L	possibly damaging	Het
Or10h28	A	T	17: 33,487,858 (GRCm39)	E53D	probably benign	Het
Or1j21	T	A	2: 36,683,277 (GRCm39)	S10T	probably benign	Het
Or5ae1	T	A	7: 84,565,626 (GRCm39)	I213N	possibly damaging	Het
Or8b1b	A	T	9: 38,376,023 (GRCm39)	K229*	probably null	Het
Oxct1	T	A	15: 4,172,332 (GRCm39)	V466D	probably damaging	Het
Piezo2	T	A	18: 63,144,792 (GRCm39)	I2768F	probably damaging	Het
Pitpnm1	C	A	19: 4,153,319 (GRCm39)	D158E	possibly damaging	Het
Plekho2	T	C	9: 65,464,018 (GRCm39)	N277S	probably benign	Het
Rab33b	T	C	3: 51,400,837 (GRCm39)	Y104H	probably damaging	Het
Rpap1	T	C	2: 119,604,331 (GRCm39)	S473G	probably benign	Het
Serpina1b	T	A	12: 103,694,694 (GRCm39)		probably null	Het
Slc25a17	A	T	15: 81,213,377 (GRCm39)		probably null	Het
Slc43a2	T	C	11: 75,436,633 (GRCm39)	C160R	probably damaging	Het
Slc7a4	G	T	16: 17,393,548 (GRCm39)	L84M	possibly damaging	Het
Slco1a4	T	A	6: 141,755,120 (GRCm39)	I561F	possibly damaging	Het
Sowahc	GGGAGGAGGAGGAGGAGGAGGAGGAGGA	GGGAGGAGGAGGAGGAGGAGGAGGA	10: 59,059,313 (GRCm39)		probably benign	Het
Specc1	T	C	11: 62,008,793 (GRCm39)	I183T	probably damaging	Het
Sucla2	A	G	14: 73,828,569 (GRCm39)	K362E	probably benign	Het
Tcf12	A	T	9: 71,792,584 (GRCm39)		probably null	Het
Tlr11	C	T	14: 50,598,658 (GRCm39)	P215S	probably benign	Het
Tmem41b	A	G	7: 109,574,072 (GRCm39)	S198P	probably damaging	Het
Tubgcp3	A	G	8: 12,698,670 (GRCm39)	F427S	probably damaging	Het
Wdr81	T	A	11: 75,335,574 (GRCm39)	S1752C	probably damaging	Het
Zbtb7a	A	G	10: 80,980,883 (GRCm39)	Y359C	probably damaging	Het
Zfp37	T	C	4: 62,110,002 (GRCm39)	Y354C	probably damaging	Het
Zmpste24	T	A	4: 120,940,074 (GRCm39)	I191F	possibly 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
R5681:Hat1	UTSW	2	71,264,553 (GRCm39)	splice site	probably null
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'- CAGCTAAAATGAAGATGCATGTGGT -3'
(R):5'- CCACACATCTTAATGTCCTTACAAT -3'

Sequencing Primer
(F):5'- TTTAACCCCAGCATTCAGGAGG -3'
(R):5'- TCTTTCCCGGGAGAAACT -3'

Posted On

2017-12-01