Incidental Mutation 'IGL01529:Kat2a'
ID 89678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Kat2a
Ensembl Gene ENSMUSG00000020918
Gene Name K(lysine) acetyltransferase 2A
Synonyms Gcn5l2, PCAF-B/GCN5, 1110051E14Rik, Gcn5
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01529
Quality Score
Status
Chromosome 11
Chromosomal Location 100595572-100603291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 100602735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 118 (W118R)
Ref Sequence ENSEMBL: ENSMUSP00000099407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017976] [ENSMUST00000019317] [ENSMUST00000103118] [ENSMUST00000107364] [ENSMUST00000169833]
AlphaFold Q9JHD2
Predicted Effect probably damaging
Transcript: ENSMUST00000006973
AA Change: W118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: W118R

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: ENSMUST00000017976
SMART Domains Protein: ENSMUSP00000017976
Gene: ENSMUSG00000017832

DomainStartEndE-ValueType
Pfam:HSP20 52 149 4.7e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000019317
SMART Domains Protein: ENSMUSP00000019317
Gene: ENSMUSG00000019173

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 22 203 6.29e-85 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103118
AA Change: W118R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: W118R

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 probably benign
Transcript: ENSMUST00000107364
SMART Domains Protein: ENSMUSP00000102987
Gene: ENSMUSG00000019173

DomainStartEndE-ValueType
low complexity region 2 17 N/A INTRINSIC
RAB 22 185 3.37e-94 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126299
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153526
Predicted Effect probably benign
Transcript: ENSMUST00000169833
SMART Domains Protein: ENSMUSP00000130551
Gene: ENSMUSG00000017832

DomainStartEndE-ValueType
Pfam:HSP20 83 178 1.2e-13 PFAM
Coding Region Coverage
Validation Efficiency
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd17c A T 7: 83,800,622 (GRCm39) I144N possibly damaging Het
Adamts19 T A 18: 59,096,535 (GRCm39) H588Q probably damaging Het
Ankrd2 A G 19: 42,028,349 (GRCm39) K46E probably damaging Het
Arhgap10 A C 8: 78,072,920 (GRCm39) L513V possibly damaging Het
Arhgef12 C A 9: 42,901,351 (GRCm39) R817L probably damaging Het
Asxl3 T A 18: 22,650,712 (GRCm39) N900K probably damaging Het
Atp9b A T 18: 80,887,826 (GRCm39) probably benign Het
Cdc27 T C 11: 104,398,042 (GRCm39) N773D probably damaging Het
Cep97 A G 16: 55,750,981 (GRCm39) probably benign Het
Dgkd T C 1: 87,808,133 (GRCm39) F67S probably damaging Het
Dolk T C 2: 30,175,749 (GRCm39) T99A probably benign Het
Egfr A T 11: 16,813,014 (GRCm39) R165W probably benign Het
Fat2 T A 11: 55,172,982 (GRCm39) D2577V probably damaging Het
Hsph1 T C 5: 149,559,499 (GRCm39) I15V probably benign Het
Idh2 T C 7: 79,747,693 (GRCm39) T276A probably benign Het
Jag1 T C 2: 136,926,897 (GRCm39) Y954C probably damaging Het
Kcnh6 G T 11: 105,911,522 (GRCm39) R636L probably benign Het
Klk1b16 G T 7: 43,790,163 (GRCm39) K144N probably benign Het
Lrrk2 T A 15: 91,696,516 (GRCm39) L2435I possibly damaging Het
Ltbp3 A G 19: 5,797,867 (GRCm39) D502G probably benign Het
Ltn1 A T 16: 87,178,359 (GRCm39) N1623K probably benign Het
Mcm10 C A 2: 5,013,439 (GRCm39) E64D probably benign Het
Med13l A G 5: 118,880,400 (GRCm39) N1164S probably damaging Het
Myo1a A G 10: 127,556,529 (GRCm39) N1025D probably benign Het
Or2m12 A T 16: 19,105,450 (GRCm39) D14E probably benign Het
Or8g27 C T 9: 39,129,427 (GRCm39) T258I probably benign Het
Pdcd11 A G 19: 47,098,068 (GRCm39) N785D probably benign Het
Psmd8 A T 7: 28,878,576 (GRCm39) I81N probably damaging Het
Rigi G A 4: 40,225,685 (GRCm39) H194Y probably benign Het
Ryr1 C T 7: 28,774,652 (GRCm39) G2330R probably damaging Het
Scrib T C 15: 75,921,084 (GRCm39) T80A possibly damaging Het
Sergef A T 7: 46,092,942 (GRCm39) W356R probably damaging Het
Slc22a19 T C 19: 7,660,300 (GRCm39) N370S probably damaging Het
Syde1 A G 10: 78,426,015 (GRCm39) S51P probably benign Het
Umodl1 A T 17: 31,215,233 (GRCm39) D1019V possibly damaging Het
Vmn2r45 A G 7: 8,486,493 (GRCm39) M265T probably benign 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
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
R0096:Kat2a UTSW 11 100,597,297 (GRCm39) missense probably damaging 1.00
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 2013-12-03