Incidental Mutation 'IGL02945:Hat1'
ID364704
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hat1
Ensembl Gene ENSMUSG00000027018
Gene Namehistone aminotransferase 1
Synonyms2410071B14Rik, KAT1
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL02945
Quality Score
Status
Chromosome2
Chromosomal Location71388958-71441622 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 71420693 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Lysine at position 195 (R195K)
Ref Sequence ENSEMBL: ENSMUSP00000028408 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028408] [ENSMUST00000112122]
Predicted Effect probably benign
Transcript: ENSMUST00000028408
AA Change: R195K

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
AA Change: R195K

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: R195K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: R195K

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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411G06Rik A T 10: 51,756,999 noncoding transcript Het
Adgrf4 T C 17: 42,667,366 Q362R probably benign Het
Akap6 A G 12: 52,880,837 N177D probably damaging Het
Alms1 A G 6: 85,620,933 I914V probably damaging Het
Arhgap11a A T 2: 113,837,473 S394R possibly damaging Het
Cacna1h C T 17: 25,388,059 V962I probably damaging Het
Calr3 A T 8: 72,438,557 L91Q probably damaging Het
Ccnf T C 17: 24,224,916 E626G probably damaging Het
Clec10a A T 11: 70,170,542 I295F possibly damaging Het
Cop1 A T 1: 159,306,689 N167I probably benign Het
Csmd1 G T 8: 16,271,570 Q505K possibly damaging Het
Ctrc A C 4: 141,846,252 V6G possibly damaging Het
Cyp2c69 T C 19: 39,886,647 R21G possibly damaging Het
Dnah5 A G 15: 28,270,426 H958R probably benign Het
Egfr T A 11: 16,752,514 L11Q probably damaging Het
Erich2 A G 2: 70,534,394 T371A probably damaging Het
Fbxl21 T A 13: 56,527,170 F111L probably damaging Het
Grik4 G T 9: 42,597,879 T416N possibly damaging Het
Grin3a A G 4: 49,792,971 V254A possibly damaging Het
Hmgb4 A C 4: 128,260,594 Y60* probably null Het
Ighv12-3 A G 12: 114,366,717 W53R probably damaging Het
Irs2 C A 8: 11,007,781 C217F probably damaging Het
Kcnb1 T C 2: 167,188,388 E79G probably benign Het
Lingo3 A G 10: 80,834,698 I466T probably damaging Het
Lyst T C 13: 13,761,198 S3665P possibly damaging Het
Myh9 A T 15: 77,762,005 L1926Q probably benign Het
Myom1 A G 17: 71,092,093 probably benign Het
Nbeal1 T C 1: 60,206,410 F198L probably damaging Het
Nktr A G 9: 121,728,631 T63A probably damaging Het
Nle1 A T 11: 82,904,084 probably benign Het
Nr3c2 A T 8: 76,909,659 D463V probably damaging Het
Olfr181 A T 16: 58,926,340 I77N probably damaging Het
Olfr902 A G 9: 38,449,516 I215V probably benign Het
Pcdhb18 T C 18: 37,489,995 I126T probably benign Het
Pgm2 A G 4: 99,961,534 I127V probably benign Het
Rai14 A G 15: 10,574,709 I721T probably benign Het
Rps6ka1 A G 4: 133,867,199 Y57H probably damaging Het
Scara3 T A 14: 65,931,211 D319V probably damaging Het
Selp G A 1: 164,133,929 G404S probably damaging Het
Serinc3 A G 2: 163,630,916 probably benign Het
Slc4a8 A G 15: 100,807,199 probably null Het
Spen G T 4: 141,494,313 L325I unknown Het
Sphkap A T 1: 83,276,831 S779T probably damaging Het
Stxbp2 A T 8: 3,641,971 I538F probably benign Het
Thumpd1 A T 7: 119,716,747 S326R possibly damaging Het
Tmem255b T C 8: 13,455,141 S149P probably damaging Het
Tnni3k A T 3: 155,037,438 S95T possibly damaging Het
Trim66 G A 7: 109,460,176 Q954* probably null Het
Ttn A T 2: 76,751,972 I22859N probably damaging Het
Zfp319 A T 8: 95,323,818 probably benign Het
Other mutations in Hat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02728:Hat1 APN 2 71421260 missense probably damaging 1.00
IGL02796:Hat1 UTSW 2 71420356 critical splice donor site probably null
R0789:Hat1 UTSW 2 71421744 splice site probably benign
R0907:Hat1 UTSW 2 71420617 nonsense probably null
R1412:Hat1 UTSW 2 71420617 nonsense probably null
R1571:Hat1 UTSW 2 71434175 missense probably benign
R1868:Hat1 UTSW 2 71421283 nonsense probably null
R1981:Hat1 UTSW 2 71389977 missense probably benign 0.01
R2064:Hat1 UTSW 2 71410160 missense possibly damaging 0.71
R2089:Hat1 UTSW 2 71434034 missense probably benign 0.12
R2091:Hat1 UTSW 2 71434034 missense probably benign 0.12
R2091:Hat1 UTSW 2 71434034 missense probably benign 0.12
R4115:Hat1 UTSW 2 71441222 missense probably benign 0.01
R5579:Hat1 UTSW 2 71410238 missense possibly damaging 0.86
R5650:Hat1 UTSW 2 71434034 missense probably benign 0.12
R5681:Hat1 UTSW 2 71434209 splice site probably null
R5895:Hat1 UTSW 2 71409013 missense possibly damaging 0.67
R6075:Hat1 UTSW 2 71410241 missense probably benign 0.29
R6621:Hat1 UTSW 2 71421715 missense probably benign 0.00
R7155:Hat1 UTSW 2 71421251 missense possibly damaging 0.95
R7506:Hat1 UTSW 2 71420347 missense probably damaging 1.00
R7644:Hat1 UTSW 2 71410181 missense probably damaging 1.00
Posted On2015-12-18