Incidental Mutation 'R4838:Elp3'
ID 374443
Institutional Source Beutler Lab
Gene Symbol Elp3
Ensembl Gene ENSMUSG00000022031
Gene Name elongator acetyltransferase complex subunit 3
Synonyms KAT9, 2610507P14Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R4838 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 65767898-65830524 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 65785313 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000153462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022609] [ENSMUST00000224743] [ENSMUST00000225355]
AlphaFold Q9CZX0
Predicted Effect probably null
Transcript: ENSMUST00000022609
SMART Domains Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031

DomainStartEndE-ValueType
Elp3 108 370 1.36e-37 SMART
Blast:Elp3 387 431 2e-19 BLAST
Pfam:Acetyltransf_1 460 555 1.1e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224743
Predicted Effect probably null
Transcript: ENSMUST00000225355
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] ELP3 is the catalytic subunit of the histone acetyltransferase elongator complex, which contributes to transcript elongation and also regulates the maturation of projection neurons (Creppe et al., 2009 [PubMed 19185337]).[supplied by OMIM, Apr 2009]
PHENOTYPE: Embryos homozygous for a null gene trap mutation show severe growth retardation and die prior to E12.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 97 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T C 7: 119,944,523 (GRCm39) V386A probably benign Het
Adk G A 14: 21,419,154 (GRCm39) A247T probably damaging Het
Ankrd27 T A 7: 35,291,231 (GRCm39) L9Q possibly damaging Het
Atad2 A G 15: 57,966,679 (GRCm39) L638P probably damaging Het
Atf7ip T A 6: 136,573,489 (GRCm39) D1009E probably benign Het
Bend7 A T 2: 4,749,133 (GRCm39) K83N probably damaging Het
Bicc1 C T 10: 70,781,146 (GRCm39) D562N possibly damaging Het
Calcrl T A 2: 84,181,549 (GRCm39) N200Y probably damaging Het
Ccdc125 C A 13: 100,814,453 (GRCm39) A11E possibly damaging Het
Cd5l A G 3: 87,273,258 (GRCm39) T76A probably benign Het
Cdhr5 A T 7: 140,853,644 (GRCm39) I2N probably damaging Het
Cdk10 C T 8: 123,957,353 (GRCm39) A230V probably damaging Het
Cep128 T C 12: 90,966,319 (GRCm39) probably benign Het
Cep131 T C 11: 119,966,982 (GRCm39) N186D probably damaging Het
Cfhr4 T A 1: 139,661,181 (GRCm39) D556V probably damaging Het
Cog7 G T 7: 121,570,604 (GRCm39) P168Q probably damaging Het
Col28a1 T A 6: 8,014,559 (GRCm39) M949L probably benign Het
Coq8b T A 7: 26,950,016 (GRCm39) M365K probably damaging Het
Cpa1 A G 6: 30,639,515 (GRCm39) E18G possibly damaging Het
Csmd2 A G 4: 128,411,542 (GRCm39) H2520R probably benign Het
Cyp2c69 T C 19: 39,866,038 (GRCm39) N185S probably benign Het
Dpm1 G A 2: 168,052,456 (GRCm39) T260I probably damaging Het
Dtx3 A T 10: 127,027,176 (GRCm39) probably null Het
Eepd1 T C 9: 25,500,756 (GRCm39) V401A possibly damaging Het
Ehhadh A G 16: 21,581,952 (GRCm39) S347P possibly damaging Het
Enam C T 5: 88,640,967 (GRCm39) Q210* probably null Het
Epha1 C T 6: 42,340,750 (GRCm39) R607H probably benign Het
Erich6 A G 3: 58,544,251 (GRCm39) I112T probably benign Het
F830045P16Rik A G 2: 129,302,470 (GRCm39) V374A possibly damaging Het
Fam171a2 C A 11: 102,329,511 (GRCm39) R416L possibly damaging Het
Fbn1 T C 2: 125,214,319 (GRCm39) N764S probably benign Het
Fip1l1 C T 5: 74,752,600 (GRCm39) T469I probably damaging Het
Flad1 G A 3: 89,313,217 (GRCm39) R342C probably damaging Het
Fzd3 A G 14: 65,477,269 (GRCm39) V95A probably benign Het
Garem1 T C 18: 21,280,950 (GRCm39) T469A probably benign Het
Gm17093 A G 14: 44,755,805 (GRCm39) Y24C unknown Het
Grap2 T C 15: 80,522,762 (GRCm39) V96A possibly damaging Het
Greb1 A T 12: 16,734,361 (GRCm39) probably null Het
Grid2ip A T 5: 143,374,530 (GRCm39) K913* probably null Het
Gzmk T C 13: 113,309,555 (GRCm39) D126G probably damaging Het
Hibch A G 1: 52,924,337 (GRCm39) I171V possibly damaging Het
Hipk2 G T 6: 38,795,339 (GRCm39) T310K possibly damaging Het
Hk3 T C 13: 55,154,231 (GRCm39) Y815C probably damaging Het
Hps5 A T 7: 46,437,778 (GRCm39) V99E probably damaging Het
Hspg2 A G 4: 137,268,977 (GRCm39) H2203R possibly damaging Het
Il12rb2 A G 6: 67,286,121 (GRCm39) V108A probably damaging Het
Il6st C T 13: 112,627,044 (GRCm39) R279* probably null Het
Kdm2a A C 19: 4,375,054 (GRCm39) S692R probably benign Het
Kif13a T C 13: 46,980,224 (GRCm39) K176R probably damaging Het
Kif5b T C 18: 6,216,869 (GRCm39) K485E probably damaging Het
Ktn1 C T 14: 47,963,413 (GRCm39) R1111* probably null Het
Lrrc23 A T 6: 124,755,152 (GRCm39) N128K probably benign Het
Mad1l1 G A 5: 140,286,017 (GRCm39) Q293* probably null Het
Man1b1 A T 2: 25,235,487 (GRCm39) I338F possibly damaging Het
Marchf1 G T 8: 66,921,015 (GRCm39) V225L probably damaging Het
Matcap2 A T 9: 22,335,673 (GRCm39) D97V probably damaging Het
Mrpl3 A G 9: 104,934,231 (GRCm39) D118G probably damaging Het
Nomo1 A T 7: 45,733,139 (GRCm39) Q1209L unknown Het
Nrcam A G 12: 44,620,802 (GRCm39) E949G probably damaging Het
Olfm5 T G 7: 103,803,572 (GRCm39) N297T probably damaging Het
Or51h7 T A 7: 102,591,453 (GRCm39) L110F probably damaging Het
Pcdh7 A T 5: 57,878,146 (GRCm39) N567I probably damaging Het
Pkn1 A G 8: 84,404,595 (GRCm39) L495P probably damaging Het
Pkp1 T C 1: 135,810,326 (GRCm39) S415G probably damaging Het
Pou2f1 T A 1: 165,744,492 (GRCm39) Q53L probably null Het
Pramel26 G A 4: 143,537,375 (GRCm39) Q319* probably null Het
Prkce A G 17: 86,937,511 (GRCm39) K648R probably benign Het
Ptprh G A 7: 4,576,429 (GRCm39) T277I possibly damaging Het
Rpl31 C T 1: 39,410,048 (GRCm39) R83C probably benign Het
Rpusd3 G A 6: 113,393,837 (GRCm39) Q194* probably null Het
Sgsm1 T A 5: 113,430,492 (GRCm39) N298Y probably damaging Het
She G A 3: 89,758,946 (GRCm39) G355D probably benign Het
Shld2 A G 14: 33,990,582 (GRCm39) V108A probably benign Het
Snx11 C T 11: 96,665,284 (GRCm39) E9K possibly damaging Het
Soat1 C A 1: 156,260,507 (GRCm39) A444S probably benign Het
Sox6 T C 7: 115,085,897 (GRCm39) Y690C probably damaging Het
Spata13 T A 14: 60,970,628 (GRCm39) F10I probably benign Het
St18 C A 1: 6,873,129 (GRCm39) T288K probably benign Het
Tifa C T 3: 127,590,235 (GRCm39) S2F probably damaging Het
Tmem232 A T 17: 65,737,883 (GRCm39) S392R probably benign Het
Tmtc3 T C 10: 100,302,082 (GRCm39) N289S probably damaging Het
Tpo A G 12: 30,142,633 (GRCm39) F697S probably damaging Het
Trp53 A G 11: 69,478,456 (GRCm39) T122A probably damaging Het
Trps1 A C 15: 50,690,712 (GRCm39) I10S probably benign Het
Tubgcp5 C T 7: 55,443,933 (GRCm39) probably benign Het
Unc13c T G 9: 73,839,354 (GRCm39) Y499S possibly damaging Het
Unc45a C A 7: 79,982,783 (GRCm39) D381Y probably damaging Het
Upf1 G C 8: 70,792,018 (GRCm39) H402Q probably benign Het
Uroc1 A T 6: 90,326,174 (GRCm39) I510F possibly damaging Het
Usp15 A G 10: 122,963,662 (GRCm39) F589L probably damaging Het
Vmn2r76 T C 7: 85,874,733 (GRCm39) Y748C probably damaging Het
Wwp1 T C 4: 19,662,143 (GRCm39) N151D probably benign Het
Zbtb40 A T 4: 136,728,527 (GRCm39) S439T probably benign Het
Zbtb6 A T 2: 37,318,728 (GRCm39) L400* probably null Het
Zfp125 C T 12: 20,949,961 (GRCm39) noncoding transcript Het
Zmynd8 A C 2: 165,681,954 (GRCm39) Y183* probably null Het
Zpld2 A G 4: 133,920,410 (GRCm39) V585A probably benign Het
Other mutations in Elp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02477:Elp3 APN 14 65,800,760 (GRCm39) missense probably benign
R0052:Elp3 UTSW 14 65,768,975 (GRCm39) makesense probably null
R0333:Elp3 UTSW 14 65,828,042 (GRCm39) missense probably benign 0.05
R0513:Elp3 UTSW 14 65,800,695 (GRCm39) splice site probably null
R0980:Elp3 UTSW 14 65,815,402 (GRCm39) missense probably damaging 1.00
R1137:Elp3 UTSW 14 65,785,370 (GRCm39) missense probably damaging 0.99
R1259:Elp3 UTSW 14 65,785,388 (GRCm39) missense probably damaging 0.96
R1378:Elp3 UTSW 14 65,830,380 (GRCm39) missense probably benign
R1722:Elp3 UTSW 14 65,788,846 (GRCm39) missense probably benign 0.02
R1789:Elp3 UTSW 14 65,785,368 (GRCm39) missense probably damaging 1.00
R3843:Elp3 UTSW 14 65,802,932 (GRCm39) splice site probably null
R4125:Elp3 UTSW 14 65,797,630 (GRCm39) missense possibly damaging 0.64
R4196:Elp3 UTSW 14 65,785,451 (GRCm39) missense probably damaging 1.00
R4400:Elp3 UTSW 14 65,785,539 (GRCm39) missense possibly damaging 0.89
R4420:Elp3 UTSW 14 65,818,240 (GRCm39) missense probably damaging 1.00
R4516:Elp3 UTSW 14 65,785,326 (GRCm39) missense possibly damaging 0.46
R4764:Elp3 UTSW 14 65,820,378 (GRCm39) missense probably damaging 1.00
R5052:Elp3 UTSW 14 65,815,389 (GRCm39) missense probably damaging 1.00
R5111:Elp3 UTSW 14 65,797,685 (GRCm39) missense probably damaging 1.00
R5665:Elp3 UTSW 14 65,788,851 (GRCm39) missense possibly damaging 0.80
R5702:Elp3 UTSW 14 65,815,431 (GRCm39) missense probably damaging 1.00
R5754:Elp3 UTSW 14 65,785,439 (GRCm39) missense probably damaging 1.00
R5927:Elp3 UTSW 14 65,819,626 (GRCm39) missense probably damaging 1.00
R5999:Elp3 UTSW 14 65,768,989 (GRCm39) missense probably benign 0.01
R6378:Elp3 UTSW 14 65,830,420 (GRCm39) nonsense probably null
R6384:Elp3 UTSW 14 65,797,660 (GRCm39) missense probably damaging 1.00
R6601:Elp3 UTSW 14 65,784,488 (GRCm39) makesense probably null
R7263:Elp3 UTSW 14 65,802,782 (GRCm39) missense probably damaging 0.98
R7857:Elp3 UTSW 14 65,800,759 (GRCm39) missense probably benign 0.14
R8504:Elp3 UTSW 14 65,785,360 (GRCm39) missense probably benign 0.03
R8789:Elp3 UTSW 14 65,802,870 (GRCm39) missense probably damaging 1.00
R8853:Elp3 UTSW 14 65,815,390 (GRCm39) missense probably benign 0.31
R9056:Elp3 UTSW 14 65,797,582 (GRCm39) missense probably damaging 0.99
R9234:Elp3 UTSW 14 65,788,920 (GRCm39) missense probably damaging 1.00
R9311:Elp3 UTSW 14 65,823,788 (GRCm39) missense probably benign 0.02
R9551:Elp3 UTSW 14 65,797,634 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTCATTCGATTCCACAGGAAGTG -3'
(R):5'- CTGTCCTACGAAGATCCTGATC -3'

Sequencing Primer
(F):5'- ACAGGAAGTGAACCAGTTTTGTTTG -3'
(R):5'- TCAGGACATTCTGATTGGCC -3'
Posted On 2016-03-16