Incidental Mutation 'R7632:Kat2a'
ID 589715
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 045720-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7632 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 100595572-100603291 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 100599422 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 523 (Q523*)
Ref Sequence ENSEMBL: ENSMUSP00000099407 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006973] [ENSMUST00000017974] [ENSMUST00000103118]
AlphaFold Q9JHD2
Predicted Effect probably null
Transcript: ENSMUST00000006973
AA Change: Q522*
SMART Domains Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: Q522*

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 null
Transcript: ENSMUST00000103118
AA Change: Q523*
SMART Domains Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: Q523*

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency 95% (63/66)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ap2a2 A G 7: 141,211,236 (GRCm39) D924G probably benign Het
Armh1 C A 4: 117,070,938 (GRCm39) A396S probably benign Het
Atrnl1 A G 19: 57,618,738 (GRCm39) D152G probably damaging Het
B3gnt8 A G 7: 25,327,860 (GRCm39) I97V possibly damaging Het
Bach1 A G 16: 87,517,031 (GRCm39) D524G probably benign Het
Caprin2 T C 6: 148,784,954 (GRCm39) S107G probably damaging Het
Ccnb1 A G 13: 100,918,209 (GRCm39) I207T probably benign Het
Cdh11 T C 8: 103,400,515 (GRCm39) D151G probably damaging Het
Cdh9 A G 15: 16,851,115 (GRCm39) probably null Het
Cep83 A T 10: 94,586,502 (GRCm39) R433W probably damaging Het
Cspg4b C A 13: 113,457,420 (GRCm39) S1155R Het
D3Ertd751e A G 3: 41,708,163 (GRCm39) E100G probably benign Het
Dchs2 C T 3: 83,255,357 (GRCm39) A2351V probably benign Het
Dhx40 T C 11: 86,690,263 (GRCm39) T253A probably benign Het
Dqx1 A G 6: 83,036,680 (GRCm39) D228G probably benign Het
Dync1h1 T C 12: 110,627,327 (GRCm39) M4002T probably benign Het
Flcn C T 11: 59,686,625 (GRCm39) W376* probably null Het
Flnc A T 6: 29,446,984 (GRCm39) Y1037F probably damaging Het
Fut11 T A 14: 20,745,096 (GRCm39) V9E probably benign Het
Fv1 T A 4: 147,954,392 (GRCm39) N319K possibly damaging Het
Ghrhr G T 6: 55,361,727 (GRCm39) G298V probably benign Het
Gm5800 T A 14: 51,953,905 (GRCm39) probably null Het
Grin2b A G 6: 135,709,553 (GRCm39) M1331T probably benign Het
Hyou1 A G 9: 44,292,433 (GRCm39) probably null Het
Igkv1-117 C A 6: 68,098,792 (GRCm39) Q114K probably damaging Het
Igkv4-68 A G 6: 69,282,048 (GRCm39) V41A possibly damaging Het
Inpp4b A G 8: 82,772,968 (GRCm39) N754S probably damaging Het
Isl2 G A 9: 55,448,440 (GRCm39) probably null Het
Lypd3 T C 7: 24,337,865 (GRCm39) F77S possibly damaging Het
Map4k2 T C 19: 6,394,084 (GRCm39) L297P probably benign Het
Naca T C 10: 127,876,375 (GRCm39) V469A unknown Het
Notch3 C T 17: 32,377,480 (GRCm39) V199I probably benign Het
Or4k44 T C 2: 111,368,521 (GRCm39) I38V possibly damaging Het
Or5b119 T C 19: 13,456,795 (GRCm39) M256V possibly damaging Het
Pabpc1 TGTACCTGTTGCATGGTA TGTA 15: 36,598,212 (GRCm39) probably null Het
Pcdhb8 A T 18: 37,488,648 (GRCm39) I109L probably benign Het
Pde2a A G 7: 101,133,801 (GRCm39) D104G possibly damaging Het
Phip A G 9: 82,785,243 (GRCm39) V824A probably benign Het
Plekhg4 T C 8: 106,106,782 (GRCm39) Y853H probably damaging Het
Plod1 T C 4: 148,011,481 (GRCm39) K248R probably damaging Het
Plxnd1 A T 6: 115,953,600 (GRCm39) Y656N probably benign Het
Pogz G A 3: 94,763,517 (GRCm39) probably null Het
Ppp1r3e T A 14: 55,114,526 (GRCm39) S79C probably damaging Het
Pprc1 T A 19: 46,060,721 (GRCm39) D1595E probably damaging Het
Ptprq A G 10: 107,547,783 (GRCm39) V205A probably benign Het
Rad51ap2 T C 12: 11,507,116 (GRCm39) V346A possibly damaging Het
Rgs12 T A 5: 35,122,934 (GRCm39) L239H probably damaging Het
Rrp8 T C 7: 105,385,727 (GRCm39) probably benign Het
Rsf1 GGCG GGCGACCGCCGCG 7: 97,229,113 (GRCm39) probably benign Het
Scaf1 A T 7: 44,656,503 (GRCm39) V792D unknown Het
Scrn2 G T 11: 96,923,968 (GRCm39) R284L possibly damaging Het
Sgsm1 T A 5: 113,423,948 (GRCm39) Q461L possibly damaging Het
Slc18b1 A G 10: 23,702,080 (GRCm39) T434A probably benign Het
Sltm C G 9: 70,493,955 (GRCm39) P802R possibly damaging Het
Smc4 CTA CTATA 3: 68,925,400 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,702 (GRCm39) D122E probably damaging Het
Srebf2 G T 15: 82,069,497 (GRCm39) V680L probably benign Het
Sry GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG Y: 2,662,638 (GRCm39) probably benign Het
Tecpr1 C T 5: 144,155,544 (GRCm39) V5M probably benign Het
Tfg A G 16: 56,532,997 (GRCm39) V54A possibly damaging Het
Tmem237 C T 1: 59,156,060 (GRCm39) C30Y probably benign Het
Tmem245 T C 4: 56,916,787 (GRCm39) K444R probably benign Het
Trim25 T G 11: 88,906,602 (GRCm39) L446R probably null Het
Usp37 T C 1: 74,507,533 (GRCm39) T495A probably benign Het
Vmn1r94 T G 7: 19,901,696 (GRCm39) T203P probably damaging Het
Ywhah T A 5: 33,184,010 (GRCm39) M71K 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
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
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'- CATGGAACTCACCTGTCCTC -3'
(R):5'- TCTTCTGCCTAGACAAGCCTG -3'

Sequencing Primer
(F):5'- GTCCCTCAGCCCTGAAAGAG -3'
(R):5'- TAGACAAGCCTGCTTTCGG -3'
Posted On 2019-10-24