Incidental Mutation 'IGL02477:Elp3'
ID 295003
Institutional Source Australian Phenomics Network (link to record)
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 # IGL02477
Quality Score
Status
Chromosome 14
Chromosomal Location 65767898-65830524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65800760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 283 (T283A)
Ref Sequence ENSEMBL: ENSMUSP00000153462 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022609] [ENSMUST00000224743] [ENSMUST00000225355]
AlphaFold Q9CZX0
Predicted Effect probably benign
Transcript: ENSMUST00000022609
AA Change: T302A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: T302A

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
AA Change: T283A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225355
AA Change: T283A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921539E11Rik T A 4: 103,127,943 (GRCm39) I61F probably benign Het
Abr T C 11: 76,352,186 (GRCm39) K280E probably damaging Het
Acaca T C 11: 84,197,994 (GRCm39) probably benign Het
Cep131 C T 11: 119,961,406 (GRCm39) V582I probably damaging Het
Colec12 A G 18: 9,859,858 (GRCm39) N613D unknown Het
Cyp4f39 A G 17: 32,708,619 (GRCm39) T389A probably benign Het
D630003M21Rik T C 2: 158,059,408 (GRCm39) N164S probably benign Het
Eef1akmt2 A T 7: 132,452,318 (GRCm39) probably null Het
Fads3 C A 19: 10,033,806 (GRCm39) P397Q probably damaging Het
Fam171a1 T C 2: 3,203,612 (GRCm39) V198A possibly damaging Het
Fam171a2 T C 11: 102,330,854 (GRCm39) I208M probably benign Het
Fbxw17 G A 13: 50,577,853 (GRCm39) V119M possibly damaging Het
Gtf2ird1 G A 5: 134,408,832 (GRCm39) T140M probably damaging Het
Hspa14 C T 2: 3,497,661 (GRCm39) S277N probably damaging Het
Hspg2 C T 4: 137,271,823 (GRCm39) probably benign Het
Ing2 G T 8: 48,122,303 (GRCm39) R82S possibly damaging Het
Kat6a A G 8: 23,419,316 (GRCm39) Y693C probably damaging Het
Kcna7 A G 7: 45,059,047 (GRCm39) M445V probably benign Het
Lifr T G 15: 7,216,404 (GRCm39) I793S probably damaging Het
Lrrd1 T A 5: 3,915,770 (GRCm39) M789K probably benign Het
Myom3 T A 4: 135,506,679 (GRCm39) L484Q probably benign Het
Nav2 T A 7: 49,232,623 (GRCm39) M1860K probably damaging Het
Nipbl C T 15: 8,353,131 (GRCm39) probably null Het
Nsun7 T A 5: 66,433,992 (GRCm39) I214K probably damaging Het
Or5k17 T C 16: 58,746,126 (GRCm39) I269M probably benign Het
Or8c20 C T 9: 38,260,421 (GRCm39) S8L probably benign Het
Osm T A 11: 4,189,604 (GRCm39) N129K probably damaging Het
Plce1 C T 19: 38,707,997 (GRCm39) probably benign Het
Plch1 A G 3: 63,660,714 (GRCm39) F302L probably damaging Het
Pld2 T C 11: 70,431,751 (GRCm39) V27A possibly damaging Het
Prex2 A G 1: 11,274,378 (GRCm39) D1350G probably benign Het
Psme4 T A 11: 30,792,083 (GRCm39) V1190D probably damaging Het
Sema3g G T 14: 30,949,823 (GRCm39) R668L probably damaging Het
Sprr2f T A 3: 92,273,204 (GRCm39) M1K probably null Het
Sult6b2 G A 6: 142,747,447 (GRCm39) P101S probably damaging Het
Trem3 G A 17: 48,556,864 (GRCm39) V112I probably benign Het
Ttll9 T A 2: 152,842,117 (GRCm39) F324I possibly damaging Het
Ttn T A 2: 76,557,104 (GRCm39) D29967V probably damaging Het
Ubr4 A G 4: 139,163,516 (GRCm39) K2639E probably damaging Het
Vwce T C 19: 10,641,982 (GRCm39) probably null Het
Zbtb14 T A 17: 69,694,690 (GRCm39) D129E probably benign Het
Zmym6 C T 4: 126,972,295 (GRCm39) Q16* probably null Het
Other mutations in Elp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R4838:Elp3 UTSW 14 65,785,313 (GRCm39) critical splice donor site probably null
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
Posted On 2015-04-16