Incidental Mutation 'IGL00476:Kat2a'
ID 277558
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 # IGL00476
Quality Score
Status
Chromosome 11
Chromosomal Location 100595572-100603291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 100596210 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Tryptophan at position 782 (R782W)
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: R782W

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: R782W

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: R783W

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: R783W

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: ENSMUST00000153526
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150656
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: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931414P19Rik T C 14: 54,833,035 (GRCm39) T47A possibly damaging Het
Adgrv1 A G 13: 81,637,193 (GRCm39) F3416S probably damaging Het
Arhgap42 T C 9: 9,006,344 (GRCm39) D684G probably damaging Het
Atp13a1 T C 8: 70,249,547 (GRCm39) L270P probably damaging Het
Baz2b T C 2: 59,744,083 (GRCm39) N1474S probably benign Het
Chmp1b2 A C X: 106,859,766 (GRCm39) probably benign Het
Chrna6 A G 8: 27,896,560 (GRCm39) I439T probably damaging Het
Cylc2 T C 4: 51,228,157 (GRCm39) M76T probably damaging Het
Ddx19a T C 8: 111,703,102 (GRCm39) K445R probably benign Het
Dennd4a A T 9: 64,819,044 (GRCm39) Y1733F probably damaging Het
Dop1b G A 16: 93,596,914 (GRCm39) probably benign Het
Ephb3 T A 16: 21,039,165 (GRCm39) probably null Het
Gpc2 G A 5: 138,272,571 (GRCm39) probably benign Het
Ift172 A G 5: 31,433,240 (GRCm39) Y550H probably damaging Het
Ldhd G T 8: 112,355,270 (GRCm39) R238S possibly damaging Het
Men1 G A 19: 6,387,237 (GRCm39) probably null Het
Mipep T G 14: 61,064,810 (GRCm39) L388R probably damaging Het
Mucl3 G T 17: 35,948,994 (GRCm39) H202N possibly damaging Het
Naa35 A G 13: 59,777,869 (GRCm39) D610G probably damaging Het
Nae1 A T 8: 105,253,013 (GRCm39) L137Q possibly damaging Het
Nt5dc3 T C 10: 86,669,838 (GRCm39) probably null Het
Nyx T C X: 13,353,264 (GRCm39) F373L possibly damaging Het
Scaf11 A T 15: 96,316,461 (GRCm39) D1034E possibly damaging Het
Sp2 C T 11: 96,845,387 (GRCm39) R578H probably damaging Het
Taar7a A T 10: 23,868,294 (GRCm39) probably benign Het
Tcf23 G T 5: 31,130,869 (GRCm39) C169F probably benign Het
Trim7 A T 11: 48,738,905 (GRCm39) N308I probably benign Het
Ubxn8 T C 8: 34,125,333 (GRCm39) E89G probably benign Het
Other mutations in Kat2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00470: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
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 2015-04-16