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: 0.953) question?
Stock # IGL02477
Quality Score
Status
Chromosome 14
Chromosomal Location 65530449-65593075 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 65563311 bp (GRCm38)
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: 103,270,746 I61F probably benign Het
Abr T C 11: 76,461,360 K280E probably damaging Het
Acaca T C 11: 84,307,168 probably benign Het
Cep131 C T 11: 120,070,580 V582I probably damaging Het
Colec12 A G 18: 9,859,858 N613D unknown Het
Cyp4f39 A G 17: 32,489,645 T389A probably benign Het
D630003M21Rik T C 2: 158,217,488 N164S probably benign Het
Eef1akmt2 A T 7: 132,850,589 probably null Het
Fads3 C A 19: 10,056,442 P397Q probably damaging Het
Fam171a1 T C 2: 3,202,575 V198A possibly damaging Het
Fam171a2 T C 11: 102,440,028 I208M probably benign Het
Fbxw17 G A 13: 50,423,817 V119M possibly damaging Het
Gtf2ird1 G A 5: 134,379,978 T140M probably damaging Het
Hspa14 C T 2: 3,496,624 S277N probably damaging Het
Hspg2 C T 4: 137,544,512 probably benign Het
Ing2 G T 8: 47,669,268 R82S possibly damaging Het
Kat6a A G 8: 22,929,300 Y693C probably damaging Het
Kcna7 A G 7: 45,409,623 M445V probably benign Het
Lifr T G 15: 7,186,923 I793S probably damaging Het
Lrrd1 T A 5: 3,865,770 M789K probably benign Het
Myom3 T A 4: 135,779,368 L484Q probably benign Het
Nav2 T A 7: 49,582,875 M1860K probably damaging Het
Nipbl C T 15: 8,323,647 probably null Het
Nsun7 T A 5: 66,276,649 I214K probably damaging Het
Olfr181 T C 16: 58,925,763 I269M probably benign Het
Olfr898 C T 9: 38,349,125 S8L probably benign Het
Osm T A 11: 4,239,604 N129K probably damaging Het
Plce1 C T 19: 38,719,553 probably benign Het
Plch1 A G 3: 63,753,293 F302L probably damaging Het
Pld2 T C 11: 70,540,925 V27A possibly damaging Het
Prex2 A G 1: 11,204,154 D1350G probably benign Het
Psme4 T A 11: 30,842,083 V1190D probably damaging Het
Sema3g G T 14: 31,227,866 R668L probably damaging Het
Sprr2f T A 3: 92,365,897 M1K probably null Het
Sult6b2 G A 6: 142,801,721 P101S probably damaging Het
Trem3 G A 17: 48,249,836 V112I probably benign Het
Ttll9 T A 2: 153,000,197 F324I possibly damaging Het
Ttn T A 2: 76,726,760 D29967V probably damaging Het
Ubr4 A G 4: 139,436,205 K2639E probably damaging Het
Vwce T C 19: 10,664,618 probably null Het
Zbtb14 T A 17: 69,387,695 D129E probably benign Het
Zmym6 C T 4: 127,078,502 Q16* probably null Het
Other mutations in Elp3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0052:Elp3 UTSW 14 65531526 makesense probably null
R0333:Elp3 UTSW 14 65590593 missense probably benign 0.05
R0513:Elp3 UTSW 14 65563246 splice site probably null
R0980:Elp3 UTSW 14 65577953 missense probably damaging 1.00
R1137:Elp3 UTSW 14 65547921 missense probably damaging 0.99
R1259:Elp3 UTSW 14 65547939 missense probably damaging 0.96
R1378:Elp3 UTSW 14 65592931 missense probably benign
R1722:Elp3 UTSW 14 65551397 missense probably benign 0.02
R1789:Elp3 UTSW 14 65547919 missense probably damaging 1.00
R3843:Elp3 UTSW 14 65565483 splice site probably null
R4125:Elp3 UTSW 14 65560181 missense possibly damaging 0.64
R4196:Elp3 UTSW 14 65548002 missense probably damaging 1.00
R4400:Elp3 UTSW 14 65548090 missense possibly damaging 0.89
R4420:Elp3 UTSW 14 65580791 missense probably damaging 1.00
R4516:Elp3 UTSW 14 65547877 missense possibly damaging 0.46
R4764:Elp3 UTSW 14 65582929 missense probably damaging 1.00
R4838:Elp3 UTSW 14 65547864 critical splice donor site probably null
R5052:Elp3 UTSW 14 65577940 missense probably damaging 1.00
R5111:Elp3 UTSW 14 65560236 missense probably damaging 1.00
R5665:Elp3 UTSW 14 65551402 missense possibly damaging 0.80
R5702:Elp3 UTSW 14 65577982 missense probably damaging 1.00
R5754:Elp3 UTSW 14 65547990 missense probably damaging 1.00
R5927:Elp3 UTSW 14 65582177 missense probably damaging 1.00
R5999:Elp3 UTSW 14 65531540 missense probably benign 0.01
R6378:Elp3 UTSW 14 65592971 nonsense probably null
R6384:Elp3 UTSW 14 65560211 missense probably damaging 1.00
R6601:Elp3 UTSW 14 65547039 makesense probably null
R7263:Elp3 UTSW 14 65565333 missense probably damaging 0.98
R7857:Elp3 UTSW 14 65563310 missense probably benign 0.14
R8504:Elp3 UTSW 14 65547911 missense probably benign 0.03
R8789:Elp3 UTSW 14 65565421 missense probably damaging 1.00
R8853:Elp3 UTSW 14 65577941 missense probably benign 0.31
R9056:Elp3 UTSW 14 65560133 missense probably damaging 0.99
R9234:Elp3 UTSW 14 65551471 missense probably damaging 1.00
R9311:Elp3 UTSW 14 65586339 missense probably benign 0.02
R9551:Elp3 UTSW 14 65560185 missense probably benign
Posted On 2015-04-16