Incidental Mutation 'R4516:Elp3'
ID 332927
Institutional Source Beutler Lab
Gene Symbol Elp3
Ensembl Gene ENSMUSG00000022031
Gene Name elongator acetyltransferase complex subunit 3
Synonyms KAT9, 2610507P14Rik
MMRRC Submission 041760-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R4516 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 65767898-65830524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65785326 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 492 (F492I)
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: F511I

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: F511I

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: F492I

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
Predicted Effect possibly damaging
Transcript: ENSMUST00000225355
AA Change: F492I

PolyPhen 2 Score 0.459 (Sensitivity: 0.89; Specificity: 0.90)
Meta Mutation Damage Score 0.4415 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 92.9%
Validation Efficiency 86% (51/59)
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bean1 T C 8: 104,941,786 (GRCm39) S211P probably damaging Het
Bltp1 T C 3: 36,949,460 (GRCm39) S369P possibly damaging Het
Camta1 A G 4: 151,229,177 (GRCm39) S552P possibly damaging Het
Cdh11 T C 8: 103,400,594 (GRCm39) T125A possibly damaging Het
Cdk5rap2 A T 4: 70,194,952 (GRCm39) probably null Het
Cenpc1 A G 5: 86,195,446 (GRCm39) S108P possibly damaging Het
Cfap20dc A T 14: 8,536,609 (GRCm38) D199E probably damaging Het
Cfap44 T A 16: 44,294,227 (GRCm39) Y224* probably null Het
Cfap46 G A 7: 139,239,998 (GRCm39) probably benign Het
Cntrl G A 2: 35,017,993 (GRCm39) V468I probably benign Het
Col6a6 C T 9: 105,576,148 (GRCm39) V2071I possibly damaging Het
Coq7 A T 7: 118,109,130 (GRCm39) L306Q unknown Het
D7Ertd443e C G 7: 133,895,057 (GRCm39) Q591H probably damaging Het
Dchs1 C T 7: 105,404,059 (GRCm39) V2828M probably damaging Het
Dzank1 T A 2: 144,352,042 (GRCm39) probably benign Het
Elmo1 C T 13: 20,467,084 (GRCm39) T235I probably benign Het
Espl1 A G 15: 102,231,671 (GRCm39) S90G probably benign Het
Fbxl20 T C 11: 97,986,061 (GRCm39) probably benign Het
Gm10722 T C 9: 3,000,937 (GRCm39) C6R probably benign Het
Got1 T C 19: 43,493,280 (GRCm39) Y243C probably damaging Het
Hipk1 G T 3: 103,657,688 (GRCm39) H799N probably damaging Het
Kif21a A T 15: 90,855,345 (GRCm39) M673K probably benign Het
Lama3 T A 18: 12,628,415 (GRCm39) D1502E probably damaging Het
Limk1 A G 5: 134,705,640 (GRCm39) probably benign Het
Myo5b A G 18: 74,758,745 (GRCm39) Y242C probably damaging Het
Naa12 G A 18: 80,254,791 (GRCm39) M28I probably benign Het
Ncbp1 T C 4: 46,157,824 (GRCm39) V354A probably damaging Het
Ncoa2 T C 1: 13,217,130 (GRCm39) D1380G probably damaging Het
Ntng1 A G 3: 109,842,329 (GRCm39) I148T probably damaging Het
Oas1d A T 5: 121,057,233 (GRCm39) T280S probably damaging Het
Or1e29 C T 11: 73,667,866 (GRCm39) G96S probably benign Het
Or4c15b T A 2: 89,113,187 (GRCm39) M118L probably benign Het
Pax7 T G 4: 139,508,104 (GRCm39) D307A probably benign Het
Pdxdc1 G A 16: 13,656,210 (GRCm39) Q621* probably null Het
Rab29 A T 1: 131,795,469 (GRCm39) Y27F possibly damaging Het
Rab3gap2 G A 1: 184,999,265 (GRCm39) V991I probably benign Het
Ric1 A G 19: 29,548,165 (GRCm39) T278A probably benign Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Slc47a1 T C 11: 61,235,339 (GRCm39) H498R probably benign Het
Spmip6 T C 4: 41,517,200 (GRCm39) probably benign Het
Tas2r116 T C 6: 132,833,113 (GRCm39) L238P probably damaging Het
Tigd5 A T 15: 75,782,364 (GRCm39) R252* probably null Het
Tlr6 A G 5: 65,112,247 (GRCm39) F220S possibly damaging Het
Tmem106b C T 6: 13,075,098 (GRCm39) T95I probably damaging Het
Ubqlnl C T 7: 103,798,925 (GRCm39) V191M probably benign Het
Vmn1r174 A G 7: 23,453,768 (GRCm39) I145V probably benign Het
Vps26a T C 10: 62,304,124 (GRCm39) M116V probably damaging 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
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
Predicted Primers PCR Primer
(F):5'- TTTGGAACCACATGGGAGC -3'
(R):5'- TCCTTATCCACCAGGTCGAGTTG -3'

Sequencing Primer
(F):5'- CAACATGGAGAAGGACTGCCC -3'
(R):5'- CCAATGGTGGCTGGGAAACTTTC -3'
Posted On 2015-08-18