Incidental Mutation 'R6719:Kat2a'
ID 529502
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 044837-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6719 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 100595572-100603291 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 100602967 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Histidine at position 88 (Q88H)
Ref Sequence ENSEMBL: ENSMUSP00000099407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017976] [ENSMUST00000019317] [ENSMUST00000103118] [ENSMUST00000107364] [ENSMUST00000169833]
AlphaFold Q9JHD2
Predicted Effect probably benign
Transcript: ENSMUST00000006973
AA Change: Q88H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q88H

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 benign
Transcript: ENSMUST00000103118
AA Change: Q88H

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q88H

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 probably benign
Transcript: ENSMUST00000169833
SMART Domains Protein: ENSMUSP00000130551
Gene: ENSMUSG00000017832

DomainStartEndE-ValueType
Pfam:HSP20 83 178 1.2e-13 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153526
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.7%
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T C 19: 42,041,151 (GRCm39) I94T possibly damaging Het
Afp T A 5: 90,651,562 (GRCm39) N392K probably benign Het
Asrgl1 C T 19: 9,090,512 (GRCm39) G278D probably damaging Het
Atp2c1 T C 9: 105,301,377 (GRCm39) I611V probably damaging Het
Avl9 A G 6: 56,730,370 (GRCm39) Y571C probably damaging Het
Clrn1 A T 3: 58,753,861 (GRCm39) C167S probably damaging Het
Ctsr C T 13: 61,308,265 (GRCm39) G293D possibly damaging Het
Dmbt1 T A 7: 130,721,332 (GRCm39) S1867T possibly damaging Het
Dock9 A T 14: 121,847,439 (GRCm39) I1025N probably damaging Het
Dppa4 G A 16: 48,108,247 (GRCm39) A11T probably damaging Het
Duox2 T A 2: 122,114,867 (GRCm39) probably null Het
Fat3 A G 9: 15,907,440 (GRCm39) L2854P probably benign Het
Fcer1a A G 1: 173,050,340 (GRCm39) S61P possibly damaging Het
Fyb2 A T 4: 104,867,656 (GRCm39) D669V probably benign Het
Herc2 G T 7: 55,862,574 (GRCm39) C4081F probably damaging Het
Hexim1 T C 11: 103,008,091 (GRCm39) L115P probably benign Het
Lrriq1 T C 10: 102,906,977 (GRCm39) Y1581C probably damaging Het
Ltbp4 T G 7: 27,028,188 (GRCm39) D323A probably damaging Het
Mark3 T A 12: 111,581,876 (GRCm39) I115K probably damaging Het
Nudt9 A G 5: 104,209,562 (GRCm39) D271G probably damaging Het
Or2a54 T A 6: 43,092,907 (GRCm39) V77D probably damaging Het
Parvb C T 15: 84,182,180 (GRCm39) R237W probably damaging Het
Pcdha5 T C 18: 37,093,925 (GRCm39) S145P probably damaging Het
Pzp T C 6: 128,501,046 (GRCm39) E104G probably benign Het
Rho T C 6: 115,910,854 (GRCm39) I133T possibly damaging Het
Sall3 G T 18: 81,014,721 (GRCm39) T997K probably damaging Het
Scn8a A T 15: 100,908,896 (GRCm39) probably null Het
Sfxn1 T A 13: 54,260,583 (GRCm39) H310Q probably benign Het
Slc25a18 A G 6: 120,765,215 (GRCm39) D92G probably damaging Het
Slc26a9 T C 1: 131,689,523 (GRCm39) I490T probably benign Het
Terf1 T C 1: 15,908,460 (GRCm39) V351A probably benign Het
Thsd7b A G 1: 130,087,451 (GRCm39) probably null Het
Trgj2 A G 13: 19,495,426 (GRCm39) probably benign Het
Tti1 A T 2: 157,824,220 (GRCm39) C1078S probably benign Het
Ttll3 A G 6: 113,375,993 (GRCm39) probably benign Het
Tubb1 A C 2: 174,299,187 (GRCm39) T290P probably damaging Het
Ugt2b35 G T 5: 87,155,247 (GRCm39) D361Y probably damaging Het
Zc2hc1c T C 12: 85,337,446 (GRCm39) S368P 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
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
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
Predicted Primers PCR Primer
(F):5'- CAGTTCCCTGATGCTGTCTG -3'
(R):5'- GGCAAAGGAAGACTACGACTCC -3'

Sequencing Primer
(F):5'- TGTCTGCATCCCAAGCG -3'
(R):5'- ATGGCGGAACCTTCCCAG -3'
Posted On 2018-08-01