Mutagenetix > Incidental Mutation

Incidental Mutation 'R9786:Hat1'

734312

Institutional Source

Beutler Lab

Gene Symbol

Hat1

Ensembl Gene

ENSMUSG00000027018

Gene Name

histone aminotransferase 1

Synonyms

KAT1, 2410071B14Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R9786 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71219604-71271966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 71250959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 169 (R169Q)

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: R169Q

PolyPhen 2 Score 0.454 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: R169Q

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: R169Q

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: R169Q

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.9%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	T	A	9: 99,502,536 (GRCm39)	M232K	possibly damaging	Het
Abcc1	T	C	16: 14,222,927 (GRCm39)	S243P	probably damaging	Het
Acsl1	T	C	8: 46,974,486 (GRCm39)	Y320H	probably damaging	Het
Adam11	A	G	11: 102,653,090 (GRCm39)	S61G	probably benign	Het
Adamts1	G	A	16: 85,592,302 (GRCm39)	T965I	probably benign	Het
Adcyap1r1	T	A	6: 55,456,182 (GRCm39)	M190K	probably damaging	Het
Ankrd2	T	A	19: 42,033,358 (GRCm39)	L300Q		Het
Ankrd27	A	T	7: 35,291,294 (GRCm39)	Q30L	possibly damaging	Het
Atp8b5	T	A	4: 43,305,798 (GRCm39)	I114K	probably damaging	Het
Atrn	A	T	2: 130,786,809 (GRCm39)	I205F	probably damaging	Het
BC035947	A	G	1: 78,488,561 (GRCm39)		probably benign	Het
Boc	C	T	16: 44,311,692 (GRCm39)	R677H		Het
Calhm6	A	G	10: 34,003,643 (GRCm39)	F88S	probably benign	Het
Ccdc121rt3	T	A	5: 112,502,939 (GRCm39)	E255V	probably benign	Het
Dpysl3	G	T	18: 43,462,922 (GRCm39)	T485K	probably damaging	Het
Esyt3	T	C	9: 99,194,038 (GRCm39)	D867G	possibly damaging	Het
Fam178b	G	A	1: 36,603,517 (GRCm39)	T478I	probably damaging	Het
Foxd2	G	T	4: 114,764,850 (GRCm39)	T390K	possibly damaging	Het
Furin	A	G	7: 80,040,645 (GRCm39)	V731A	probably benign	Het
Grin2a	T	A	16: 9,471,466 (GRCm39)	I601F	possibly damaging	Het
Ighe	G	C	12: 113,236,851 (GRCm39)	Q6E		Het
Ighv8-2	T	C	12: 114,426,179 (GRCm39)	I31V	probably benign	Het
Klk1	A	G	7: 43,878,104 (GRCm39)	D120G	probably damaging	Het
Kmt2e	A	G	5: 23,702,982 (GRCm39)	D1054G	probably benign	Het
Lamp5	A	T	2: 135,910,998 (GRCm39)	I244F	probably damaging	Het
Maco1	A	T	4: 134,557,993 (GRCm39)	Y173*	probably null	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mfsd4b1	T	C	10: 39,878,865 (GRCm39)	E344G	probably damaging	Het
Mns1	A	G	9: 72,346,556 (GRCm39)	K13R	probably benign	Het
Mrpl43	C	T	19: 44,994,346 (GRCm39)	S91N	probably benign	Het
Mtbp	T	C	15: 55,481,032 (GRCm39)	S706P	probably benign	Het
Nelfb	A	T	2: 25,095,145 (GRCm39)	V348D	probably damaging	Het
Or1l8	T	A	2: 36,817,416 (GRCm39)	K237*	probably null	Het
Or5p72	A	T	7: 108,021,924 (GRCm39)	I49F	probably benign	Het
Or7g20	C	T	9: 18,947,241 (GRCm39)	A274V	possibly damaging	Het
Or8k18	G	A	2: 86,085,428 (GRCm39)	S203L	probably benign	Het
Or8s8	T	C	15: 98,354,713 (GRCm39)	I174T	possibly damaging	Het
Pde6c	T	C	19: 38,140,009 (GRCm39)	I324T	possibly damaging	Het
Phlpp2	T	A	8: 110,660,655 (GRCm39)	L770*	probably null	Het
Pik3c2b	T	A	1: 133,019,338 (GRCm39)	F1029I	possibly damaging	Het
Rfx2	A	T	17: 57,087,890 (GRCm39)	S500R	probably benign	Het
Sarm1	T	C	11: 78,365,743 (GRCm39)	M761V	probably benign	Het
Serpina1a	A	G	12: 103,822,140 (GRCm39)	L264P	possibly damaging	Het
Slc37a1	G	T	17: 31,556,965 (GRCm39)	G377V	probably damaging	Het
Slc38a4	T	A	15: 96,906,378 (GRCm39)	M364L	probably damaging	Het
Slc7a15	A	G	12: 8,580,280 (GRCm39)	F384S	probably benign	Het
Smyd4	T	C	11: 75,281,625 (GRCm39)	V366A	probably benign	Het
Spata31d1b	T	A	13: 59,866,155 (GRCm39)	V1101D	possibly damaging	Het
Spata31d1e	C	T	13: 59,890,498 (GRCm39)	D441N	possibly damaging	Het
Stab2	C	A	10: 86,757,997 (GRCm39)	M1090I	probably benign	Het
Tex15	C	T	8: 34,062,457 (GRCm39)	T903I	probably damaging	Het
Tgds	A	T	14: 118,368,049 (GRCm39)	Y41*	probably null	Het
Tle4	G	T	19: 14,495,304 (GRCm39)	H142N	probably benign	Het
Tlx2	T	C	6: 83,046,274 (GRCm39)		probably null	Het
Tmem151a	C	G	19: 5,131,869 (GRCm39)	A446P	probably damaging	Het
Tmem205	A	T	9: 21,832,496 (GRCm39)	D138E	probably damaging	Het
Tmprss9	A	G	10: 80,734,042 (GRCm39)	K1009E	unknown	Het
Tnk2	T	A	16: 32,498,875 (GRCm39)	C729*	probably null	Het
Trim46	T	A	3: 89,142,399 (GRCm39)	D696V	probably damaging	Het
Tuba3b	G	A	6: 145,564,482 (GRCm39)	R84Q	probably benign	Het
Unc119b	C	T	5: 115,263,521 (GRCm39)	D228N	probably damaging	Het
Usp17la	A	G	7: 104,510,864 (GRCm39)	T490A	probably benign	Het
Zfp267	T	A	3: 36,219,853 (GRCm39)	C625*	probably null	Het
Zfp687	C	T	3: 94,919,768 (GRCm39)	M1I	probably null	Het
Zfp729a	T	C	13: 67,768,628 (GRCm39)	T534A	possibly damaging	Het
Zfp985	A	T	4: 147,668,047 (GRCm39)	H305L	probably benign	Het
Zscan10	C	T	17: 23,828,330 (GRCm39)	Q291*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- TGCATGGAACCTGTATGGG -3'
(R):5'- AATTGGGCTGCCACAATTAAAATGC -3'

Sequencing Primer
(F):5'- AACCTGTATGGGATTTTATATTCTGC -3'
(R):5'- CCACAATTAAAATGCTGGCTTTGTGG -3'

Posted On

2022-11-14