Incidental Mutation 'R0096:Kat2a'
ID 16496
Institutional Source Beutler Lab
Gene Symbol Kat2a
Ensembl Gene ENSMUSG00000020918
Gene Name K(lysine) acetyltransferase 2A
Synonyms Gcn5l2, PCAF-B/GCN5, 1110051E14Rik, Gcn5
MMRRC Submission 038382-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0096 (G1)
Quality Score
Status Validated
Chromosome 11
Chromosomal Location 100595572-100603291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100597297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 625 (V625E)
Ref Sequence ENSEMBL: ENSMUSP00000006973 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]
AlphaFold Q9JHD2
Predicted Effect probably damaging
Transcript: ENSMUST00000006973
AA Change: V625E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V625E

DomainStartEndE-ValueType
low complexity region 21 72 N/A INTRINSIC
Pfam:PCAF_N 81 332 1.2e-155 PFAM
low complexity region 398 417 N/A INTRINSIC
Pfam:Acetyltransf_7 538 621 5e-13 PFAM
Pfam:Acetyltransf_1 545 620 3.2e-11 PFAM
low complexity region 659 675 N/A INTRINSIC
BROMO 718 826 6.87e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000017974
SMART Domains Protein: ENSMUSP00000017974
Gene: ENSMUSG00000017830

DomainStartEndE-ValueType
DEXDc 2 207 2.86e-22 SMART
HELICc 387 475 3.85e-14 SMART
Blast:HELICc 497 543 4e-12 BLAST
Pfam:RIG-I_C-RD 552 667 1.5e-37 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000103118
AA Change: V626E

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V626E

DomainStartEndE-ValueType
low complexity region 21 72 N/A INTRINSIC
Pfam:PCAF_N 81 331 4.4e-120 PFAM
low complexity region 398 417 N/A INTRINSIC
Pfam:Acetyltransf_7 539 622 1.2e-11 PFAM
Pfam:Acetyltransf_1 547 621 3.1e-11 PFAM
low complexity region 660 676 N/A INTRINSIC
BROMO 719 827 6.87e-38 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126167
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150656
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153526
Meta Mutation Damage Score 0.7061 question?
Coding Region Coverage
  • 1x: 90.0%
  • 3x: 87.5%
  • 10x: 81.4%
  • 20x: 72.0%
Validation Efficiency 89% (76/85)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009]
PHENOTYPE: Homozygotes for targeted null mutations exhibit poorly developed yolk sac blood vessels, retarded growth, absence of dorsal mesoderm lineages, failure to form somites, and lethality between embryonic days 9.5-11.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 106,435,563 (GRCm39) probably null Het
Adamts3 G A 5: 89,849,576 (GRCm39) Q615* probably null Het
Adamtsl3 T A 7: 82,114,907 (GRCm39) probably benign Het
Anks1b T C 10: 89,909,924 (GRCm39) S48P possibly damaging Het
Aoc1l2 A C 6: 48,908,122 (GRCm39) Q374P probably damaging Het
Arhgap42 G T 9: 9,009,314 (GRCm39) N524K probably damaging Het
Arhgef28 T G 13: 98,067,762 (GRCm39) T1388P probably damaging Het
Arid4b T C 13: 14,303,779 (GRCm39) V68A probably benign Het
Bard1 A T 1: 71,092,889 (GRCm39) probably benign Het
BC005537 T C 13: 24,989,923 (GRCm39) F129L probably damaging Het
Capn3 A T 2: 120,333,010 (GRCm39) H592L possibly damaging Het
Cilp A G 9: 65,180,952 (GRCm39) T256A possibly damaging Het
Cpne8 T A 15: 90,384,118 (GRCm39) I481L probably benign Het
Dglucy A T 12: 100,804,910 (GRCm39) I134F possibly damaging Het
Dnai2 A C 11: 114,645,158 (GRCm39) D531A probably benign Het
Dthd1 A T 5: 63,000,383 (GRCm39) R568S possibly damaging Het
Efr3a A G 15: 65,727,290 (GRCm39) N613S probably damaging Het
Ermp1 A G 19: 29,608,788 (GRCm39) Y164H possibly damaging Het
Fbrs C T 7: 127,088,659 (GRCm39) A145V probably damaging Het
Gm9873 A T 2: 168,863,029 (GRCm39) noncoding transcript Het
Grik1 T C 16: 87,831,114 (GRCm39) M219V possibly damaging Het
Gucy1a2 A T 9: 3,758,928 (GRCm39) probably benign Het
Itih5 G A 2: 10,256,189 (GRCm39) R885Q probably benign Het
Kdm4c A G 4: 74,275,580 (GRCm39) E752G probably damaging Het
Ksr1 A G 11: 78,929,073 (GRCm39) probably benign Het
Lama1 T A 17: 68,112,408 (GRCm39) F2283I probably benign Het
Luc7l3 A G 11: 94,192,320 (GRCm39) probably benign Het
Map1a A G 2: 121,131,986 (GRCm39) E696G probably damaging Het
Mrps34 A G 17: 25,114,643 (GRCm39) D110G probably damaging Het
Myh11 T A 16: 14,022,231 (GRCm39) K1710M possibly damaging Het
Myo1d A G 11: 80,375,158 (GRCm39) L972P probably damaging Het
Nol4 T G 18: 23,054,915 (GRCm39) T58P possibly damaging Het
Nos1ap T C 1: 170,156,816 (GRCm39) D214G probably damaging Het
Or4c119 A T 2: 88,986,640 (GRCm39) M293K probably benign Het
Pde4dip A C 3: 97,674,783 (GRCm39) D44E probably damaging Het
Pip4k2a G A 2: 18,893,850 (GRCm39) probably benign Het
Prmt8 T A 6: 127,709,590 (GRCm39) probably benign Het
Pygl A T 12: 70,237,940 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,786,290 (GRCm39) D643G probably damaging Het
Sdk2 A G 11: 113,793,970 (GRCm39) probably benign Het
Skint5 A T 4: 113,454,965 (GRCm39) probably benign Het
Slc27a6 T C 18: 58,731,829 (GRCm39) probably benign Het
Spata46 C T 1: 170,139,603 (GRCm39) Q201* probably null Het
Sptbn1 A T 11: 30,064,739 (GRCm39) V1920E probably damaging Het
Sycp2 G T 2: 178,045,528 (GRCm39) Q31K probably damaging Het
Taf6l A G 19: 8,755,881 (GRCm39) F256L probably benign Het
Tektl1 T A 10: 78,584,539 (GRCm39) I328L probably benign Het
Trf A G 9: 103,099,358 (GRCm39) F300L probably damaging Het
Vmn2r105 A G 17: 20,447,741 (GRCm39) F361S possibly damaging Het
Vmn2r79 A G 7: 86,686,527 (GRCm39) Y636C probably damaging Het
Wdr59 T C 8: 112,231,005 (GRCm39) N68D probably damaging Het
Other mutations in Kat2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470:Kat2a APN 11 100,596,210 (GRCm39) missense probably damaging 1.00
IGL00476:Kat2a APN 11 100,596,210 (GRCm39) missense probably damaging 1.00
IGL00952:Kat2a APN 11 100,596,977 (GRCm39) missense probably damaging 0.98
IGL01529:Kat2a APN 11 100,602,735 (GRCm39) missense probably damaging 1.00
IGL02424:Kat2a APN 11 100,601,973 (GRCm39) splice site probably null
IGL03338:Kat2a APN 11 100,602,301 (GRCm39) missense probably benign 0.30
R0711:Kat2a UTSW 11 100,597,297 (GRCm39) missense probably damaging 1.00
R0714:Kat2a UTSW 11 100,602,178 (GRCm39) missense probably damaging 0.99
R0784:Kat2a UTSW 11 100,601,667 (GRCm39) missense probably benign 0.05
R1652:Kat2a UTSW 11 100,599,437 (GRCm39) missense probably damaging 0.98
R2152:Kat2a UTSW 11 100,603,172 (GRCm39) unclassified probably benign
R2177:Kat2a UTSW 11 100,601,648 (GRCm39) missense probably damaging 1.00
R2510:Kat2a UTSW 11 100,602,968 (GRCm39) missense probably benign 0.32
R2570:Kat2a UTSW 11 100,601,648 (GRCm39) missense probably damaging 1.00
R4175:Kat2a UTSW 11 100,596,092 (GRCm39) missense probably damaging 1.00
R4965:Kat2a UTSW 11 100,603,030 (GRCm39) unclassified probably benign
R4965:Kat2a UTSW 11 100,603,029 (GRCm39) unclassified probably benign
R5316:Kat2a UTSW 11 100,602,996 (GRCm39) missense possibly damaging 0.77
R5732:Kat2a UTSW 11 100,599,066 (GRCm39) missense probably damaging 1.00
R5954:Kat2a UTSW 11 100,599,724 (GRCm39) missense possibly damaging 0.89
R6618:Kat2a UTSW 11 100,603,196 (GRCm39) unclassified probably benign
R6719:Kat2a UTSW 11 100,602,967 (GRCm39) missense probably benign 0.00
R6731:Kat2a UTSW 11 100,599,099 (GRCm39) missense probably damaging 0.98
R7291:Kat2a UTSW 11 100,601,726 (GRCm39) missense possibly damaging 0.55
R7373:Kat2a UTSW 11 100,599,392 (GRCm39) missense probably benign 0.00
R7632:Kat2a UTSW 11 100,599,422 (GRCm39) nonsense probably null
R8305:Kat2a UTSW 11 100,600,304 (GRCm39) missense possibly damaging 0.77
R8322:Kat2a UTSW 11 100,603,116 (GRCm39) missense unknown
R8729:Kat2a UTSW 11 100,601,337 (GRCm39) missense probably benign 0.10
R9381:Kat2a UTSW 11 100,602,692 (GRCm39) missense possibly damaging 0.50
R9432:Kat2a UTSW 11 100,602,178 (GRCm39) missense probably damaging 0.99
R9472:Kat2a UTSW 11 100,596,197 (GRCm39) missense probably benign 0.04
Posted On 2013-01-20