Incidental Mutation 'R1571:Hat1'
ID 186187
Institutional Source Beutler Lab
Gene Symbol Hat1
Ensembl Gene ENSMUSG00000027018
Gene Name histone aminotransferase 1
Synonyms KAT1, 2410071B14Rik
MMRRC Submission 039610-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R1571 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 71219604-71271966 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 71264519 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 319 (I319K)
Ref Sequence ENSEMBL: ENSMUSP00000107750 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028408] [ENSMUST00000112122]
AlphaFold Q8BY71
Predicted Effect probably benign
Transcript: ENSMUST00000028408
AA Change: I312K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: I312K

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: I319K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: I319K

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: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.8%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610524H06Rik A G 5: 114,961,372 (GRCm39) probably null Het
Abcd3 T C 3: 121,586,491 (GRCm39) I70V possibly damaging Het
Acad10 T C 5: 121,759,411 (GRCm39) Y1024C probably damaging Het
Atp2b3 T G X: 72,588,712 (GRCm39) V701G probably damaging Het
Cbfa2t2 T A 2: 154,342,347 (GRCm39) M21K probably damaging Het
Cdc25a C T 9: 109,710,614 (GRCm39) T106I possibly damaging Het
Cdhr5 T C 7: 140,852,083 (GRCm39) T190A probably damaging Het
Chl1 A G 6: 103,685,445 (GRCm39) T829A probably benign Het
Clcn6 T C 4: 148,097,226 (GRCm39) T614A possibly damaging Het
Cntln A T 4: 84,865,823 (GRCm39) R160* probably null Het
Dclk2 C T 3: 86,712,946 (GRCm39) R503Q possibly damaging Het
Dock3 C A 9: 106,815,158 (GRCm39) M1236I possibly damaging Het
Eif4g3 T A 4: 137,847,719 (GRCm39) H213Q probably damaging Het
Eya1 T A 1: 14,279,141 (GRCm39) H372L probably damaging Het
Fam13b A G 18: 34,630,485 (GRCm39) V91A possibly damaging Het
Kcnf1 T C 12: 17,225,853 (GRCm39) N123D probably benign Het
Kcns3 C A 12: 11,141,551 (GRCm39) G383W probably damaging Het
Kprp A T 3: 92,732,689 (GRCm39) C120* probably null Het
Lama3 T A 18: 12,672,774 (GRCm39) C2456S probably damaging Het
Lrp1b A T 2: 41,366,658 (GRCm39) D539E probably damaging Het
Matn3 T C 12: 9,005,466 (GRCm39) L292S probably damaging Het
Mbd3l1 T A 9: 18,395,947 (GRCm39) I24N probably damaging Het
Med10 T C 13: 69,958,159 (GRCm39) L37P probably damaging Het
Mrc1 A T 2: 14,313,544 (GRCm39) H925L probably damaging Het
Myo15a T A 11: 60,409,290 (GRCm39) I3219N probably damaging Het
Nom1 C T 5: 29,647,633 (GRCm39) Q623* probably null Het
Nrm T A 17: 36,175,079 (GRCm39) W136R probably damaging Het
Or8h8 A C 2: 86,753,789 (GRCm39) V29G probably benign Het
Pde7b T C 10: 20,288,836 (GRCm39) N298S probably benign Het
Piezo2 C T 18: 63,277,990 (GRCm39) A305T possibly damaging Het
Pimreg T C 11: 71,936,042 (GRCm39) L175P possibly damaging Het
Pkhd1l1 A G 15: 44,390,237 (GRCm39) D1451G probably benign Het
Ptpro A G 6: 137,355,128 (GRCm39) S212G probably benign Het
Rhpn1 C T 15: 75,585,967 (GRCm39) R627C possibly damaging Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Rnase4 T G 14: 51,342,497 (GRCm39) F74V probably damaging Het
Sbno2 A G 10: 79,896,226 (GRCm39) probably null Het
Selp T C 1: 163,954,176 (GRCm39) Y159H probably damaging Het
Senp6 A G 9: 80,000,853 (GRCm39) T21A probably damaging Het
Slco1a7 A T 6: 141,700,135 (GRCm39) C132* probably null Het
Slco3a1 T C 7: 74,154,128 (GRCm39) D148G possibly damaging Het
Smtn G A 11: 3,480,102 (GRCm39) P373L probably benign Het
Snx20 A T 8: 89,356,597 (GRCm39) L73Q probably damaging Het
Sobp A G 10: 43,033,942 (GRCm39) V128A possibly damaging Het
Tcerg1 A G 18: 42,657,357 (GRCm39) T280A unknown Het
Tgfbrap1 A G 1: 43,088,973 (GRCm39) V810A probably benign Het
Thbs1 C A 2: 117,949,678 (GRCm39) D589E probably damaging Het
Tjp2 A G 19: 24,078,239 (GRCm39) Y885H probably damaging Het
Tmem109 A G 19: 10,849,993 (GRCm39) S100P probably damaging Het
Trim36 T C 18: 46,305,562 (GRCm39) K462E probably benign Het
Vmn1r226 A T 17: 20,908,538 (GRCm39) I257F probably damaging Het
Vmn2r92 A G 17: 18,372,352 (GRCm39) Y54C probably damaging Het
Wdcp T A 12: 4,901,924 (GRCm39) Y593* probably null Het
Wdr59 T C 8: 112,177,682 (GRCm39) S907G 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
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
R9786:Hat1 UTSW 2 71,250,959 (GRCm39) missense possibly damaging 0.45
Predicted Primers PCR Primer
(F):5'- ATGAAGATGCATGTGGTAACATTCCAGT -3'
(R):5'- agccattctgccagcACAGTTT -3'

Sequencing Primer
(F):5'- ccagcattcaggaggcag -3'
(R):5'- caaactaaactgctacggatgac -3'
Posted On 2014-05-09