Mutagenetix > Incidental Mutation

Incidental Mutation 'R7506:Hat1'

581771

Institutional Source

Beutler Lab

Gene Symbol

Hat1

Ensembl Gene

ENSMUSG00000027018

Gene Name

histone aminotransferase 1

Synonyms

KAT1, 2410071B14Rik

MMRRC Submission

045579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R7506 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71219604-71271966 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71250691 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 158 (I158N)

Ref Sequence

ENSEMBL: ENSMUSP00000028408 (fasta)

Gene Model

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

AlphaFold

Q8BY71

Predicted Effect

probably damaging
Transcript: ENSMUST00000028408
AA Change: I158N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: I158N

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 damaging
Transcript: ENSMUST00000112122
AA Change: I158N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: I158N

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

Meta Mutation Damage Score

0.6329

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (58/59)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	C	T	9: 15,209,202 (GRCm39)	V31I	probably benign	Het
4933430I17Rik	T	C	4: 62,450,498 (GRCm39)	V24A	possibly damaging	Het
Adamtsl3	A	T	7: 82,164,186 (GRCm39)	R334W	probably damaging	Het
Aox1	G	A	1: 58,088,562 (GRCm39)	C116Y	probably damaging	Het
B3gntl1	A	T	11: 121,561,740 (GRCm39)	I74N	probably damaging	Het
Bicra	C	T	7: 15,722,138 (GRCm39)	V460M	possibly damaging	Het
Ccdc18	G	A	5: 108,311,605 (GRCm39)	C437Y	possibly damaging	Het
Cdh6	A	G	15: 13,034,396 (GRCm39)	S755P	probably damaging	Het
Crtc2	G	T	3: 90,166,519 (GRCm39)	A165S	probably damaging	Het
Cwf19l2	C	T	9: 3,456,775 (GRCm39)	H703Y	probably damaging	Het
Cyc1	C	A	15: 76,227,885 (GRCm39)	T41K	probably benign	Het
Defb28	A	T	2: 152,360,221 (GRCm39)	H12L	possibly damaging	Het
Dsg3	T	A	18: 20,666,521 (GRCm39)	C577S	probably benign	Het
Ggt6	G	T	11: 72,328,724 (GRCm39)	C408F	possibly damaging	Het
Gm3278	T	A	14: 16,080,479 (GRCm39)	Y97N	probably damaging	Het
Gpr155	A	G	2: 73,198,683 (GRCm39)	L412P	probably damaging	Het
Gucd1	T	C	10: 75,347,019 (GRCm39)	H77R	probably benign	Het
H2bc8	G	A	13: 23,755,658 (GRCm39)	A18T	unknown	Het
Hhla1	C	T	15: 65,808,231 (GRCm39)	W271*	probably null	Het
Igsf10	T	A	3: 59,226,775 (GRCm39)	L2299F	probably damaging	Het
Iqsec1	A	G	6: 90,644,891 (GRCm39)	S914P	probably damaging	Het
Iqsec1	G	T	6: 90,639,788 (GRCm39)	H983Q	possibly damaging	Het
Irx2	G	T	13: 72,777,328 (GRCm39)	G50C	probably damaging	Het
Kif26b	T	C	1: 178,357,064 (GRCm39)		probably benign	Het
Lmo7	A	G	14: 102,157,045 (GRCm39)	E1405G	unknown	Het
Mdm2	T	C	10: 117,526,596 (GRCm39)	D330G	possibly damaging	Het
Mgat5	A	C	1: 127,294,192 (GRCm39)	D178A	probably benign	Het
Mier2	C	A	10: 79,386,176 (GRCm39)	R25L	probably benign	Het
Mlip	T	C	9: 77,072,085 (GRCm39)	K257E	probably damaging	Het
Mtfr2	T	C	10: 20,229,131 (GRCm39)	S80P	probably benign	Het
Ndst2	A	G	14: 20,780,153 (GRCm39)	V29A	probably benign	Het
Negr1	T	G	3: 156,774,870 (GRCm39)	Y195*	probably null	Het
Nptn	T	C	9: 58,526,156 (GRCm39)	L101P	probably damaging	Het
Nrip1	G	A	16: 76,091,347 (GRCm39)	T70I	probably damaging	Het
Nrtn	C	T	17: 57,058,633 (GRCm39)	V123M	probably damaging	Het
Onecut1	T	A	9: 74,770,522 (GRCm39)	F315Y	possibly damaging	Het
Or1p1	A	T	11: 74,179,949 (GRCm39)	H159L	possibly damaging	Het
P4htm	A	G	9: 108,460,878 (GRCm39)	L198S	probably damaging	Het
Pappa	A	C	4: 65,149,419 (GRCm39)	I920L	probably benign	Het
Pcdhgb5	A	C	18: 37,865,525 (GRCm39)	D440A	probably damaging	Het
Ppard	A	T	17: 28,517,735 (GRCm39)	N268Y	possibly damaging	Het
Rapgef6	T	A	11: 54,526,997 (GRCm39)	S563T	probably benign	Het
Rtn3	T	A	19: 7,407,118 (GRCm39)	E949D	probably benign	Het
Sf3a1	T	C	11: 4,127,561 (GRCm39)	M629T	probably benign	Het
Slc39a8	T	C	3: 135,590,067 (GRCm39)	I319T	probably benign	Het
Sorcs1	C	T	19: 50,171,112 (GRCm39)	W925*	probably null	Het
Spag9	G	A	11: 93,999,290 (GRCm39)	D1069N	probably damaging	Het
Taar7a	A	G	10: 23,868,892 (GRCm39)	V163A	possibly damaging	Het
Tmem150a	G	A	6: 72,333,753 (GRCm39)		probably null	Het
Tnxb	G	A	17: 34,934,665 (GRCm39)	V2425I	possibly damaging	Het
Tppp2	A	G	14: 52,158,058 (GRCm39)	K168E	possibly damaging	Het
Ttn	T	A	2: 76,719,812 (GRCm39)	D7099V	unknown	Het
Vmn1r41	A	T	6: 89,724,159 (GRCm39)	R50*	probably null	Het
Vmn1r60	T	C	7: 5,547,861 (GRCm39)	K80E		Het
Vmn2r18	A	G	5: 151,508,485 (GRCm39)	F213S	possibly damaging	Het
Vmn2r26	G	A	6: 124,016,700 (GRCm39)	S388N	probably benign	Het
Vmn2r63	A	T	7: 42,576,391 (GRCm39)	F474Y	probably damaging	Het
Zc3hav1	G	A	6: 38,309,875 (GRCm39)	R316*	probably null	Het
Zfp654	A	T	16: 64,612,211 (GRCm39)	I225N	probably damaging	Het
Zfp97	A	G	17: 17,365,542 (GRCm39)	E347G	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
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
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'- TCAGGCAGATGATGTTGAAGGC -3'
(R):5'- ACATGTCATGTCAGCCTAGG -3'

Sequencing Primer
(F):5'- TGTTGAAGGCAAAATCAGACAAATC -3'
(R):5'- CTGTAGAACACAAAACTATCCTGTGG -3'

Posted On

2019-10-17