Incidental Mutation 'R6621:Hat1'
ID 524419
Institutional Source Beutler Lab
Gene Symbol Hat1
Ensembl Gene ENSMUSG00000027018
Gene Name histone aminotransferase 1
Synonyms KAT1, 2410071B14Rik
MMRRC Submission 044744-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.948) question?
Stock # R6621 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 71219604-71271966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71252059 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 264 (F264I)
Ref Sequence ENSEMBL: ENSMUSP00000028408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028408] [ENSMUST00000112122]
AlphaFold Q8BY71
Predicted Effect probably benign
Transcript: ENSMUST00000028408
AA Change: F264I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: F264I

DomainStartEndE-ValueType
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: F264I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: F264I

DomainStartEndE-ValueType
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: 99.9%
  • 3x: 99.5%
  • 10x: 97.7%
  • 20x: 92.6%
Validation Efficiency 100% (36/36)
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
6430548M08Rik C T 8: 120,872,162 (GRCm39) T30M possibly damaging Het
Abcb8 T C 5: 24,599,508 (GRCm39) F8L probably benign Het
Akap13 G T 7: 75,219,729 (GRCm39) C44F probably damaging Het
Ankrd34a A G 3: 96,505,531 (GRCm39) N245S possibly damaging Het
Ccdc186 T C 19: 56,801,919 (GRCm39) D66G probably benign Het
Chat C T 14: 32,140,970 (GRCm39) A476T probably damaging Het
Cpsf1 T C 15: 76,487,719 (GRCm39) D100G probably damaging Het
Cpt1a T A 19: 3,428,472 (GRCm39) F615L probably damaging Het
Dpp4 T A 2: 62,182,484 (GRCm39) D599V probably damaging Het
Dpysl5 T C 5: 30,941,813 (GRCm39) probably null Het
Fam234a A G 17: 26,432,855 (GRCm39) L460P probably damaging Het
Fsip2 T G 2: 82,820,158 (GRCm39) V5297G possibly damaging Het
Gm28363 A G 1: 117,655,087 (GRCm39) D102G probably benign Het
Greb1 A G 12: 16,742,718 (GRCm39) V1377A probably damaging Het
Kif3a A G 11: 53,469,957 (GRCm39) I152M probably damaging Het
Lemd2 T C 17: 27,414,366 (GRCm39) S323G probably benign Het
Manea T C 4: 26,340,363 (GRCm39) probably null Het
Mcm9 T C 10: 53,439,409 (GRCm39) E588G probably damaging Het
Mllt3 T G 4: 87,759,034 (GRCm39) K338T possibly damaging Het
Nrxn1 T C 17: 90,469,610 (GRCm39) T1324A probably damaging Het
Nudt8 T A 19: 4,051,320 (GRCm39) Y64N probably benign Het
Or13a27 A G 7: 139,925,368 (GRCm39) F178S probably damaging Het
Or2y15 A G 11: 49,350,598 (GRCm39) I31V probably benign Het
Or51ah3 A G 7: 103,210,085 (GRCm39) T134A possibly damaging Het
Or5ac15 A T 16: 58,940,287 (GRCm39) W49R probably benign Het
Or5w14 A G 2: 87,541,899 (GRCm39) V117A probably benign Het
Or8c9 A T 9: 38,241,758 (GRCm39) I289F probably damaging Het
Osm T A 11: 4,189,541 (GRCm39) D108E probably benign Het
Pde8a A G 7: 80,942,878 (GRCm39) probably null Het
Phtf2 T C 5: 21,017,954 (GRCm39) probably benign Het
Rnf214 T C 9: 45,807,468 (GRCm39) D245G probably damaging Het
Slc10a7 T C 8: 79,242,263 (GRCm39) I50T probably damaging Het
Slc5a6 A G 5: 31,198,122 (GRCm39) V251A probably damaging Het
Sun3 T A 11: 8,966,242 (GRCm39) T320S probably damaging Het
Zfp174 A G 16: 3,665,819 (GRCm39) E28G probably damaging Het
Other mutations in Hat1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CTGAGGCAGAGTAGACTAATTTTG -3'
(R):5'- TGCAGCCCGATCTCCATAAAAG -3'

Sequencing Primer
(F):5'- GGCAGAGTAGACTAATTTTGTGTATG -3'
(R):5'- GCCCGATCTCCATAAAAGCTTAG -3'
Posted On 2018-06-22