Incidental Mutation 'R1722:Elp3'
ID 191576
Institutional Source Beutler Lab
Gene Symbol Elp3
Ensembl Gene ENSMUSG00000022031
Gene Name elongator acetyltransferase complex subunit 3
Synonyms KAT9, 2610507P14Rik
MMRRC Submission 039754-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.957) question?
Stock # R1722 (G1)
Quality Score 171
Status Not validated
Chromosome 14
Chromosomal Location 65767898-65830524 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 65788846 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 393 (D393E)
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: D412E

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000022609
Gene: ENSMUSG00000022031
AA Change: D412E

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: D393E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000225355
AA Change: D393E

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.3%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931422A03Rik A T 2: 103,824,273 (GRCm39) probably null Het
Adss1 A T 12: 112,602,915 (GRCm39) I346F possibly damaging Het
Ahnak T A 19: 8,988,019 (GRCm39) L3101H probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Angptl1 C T 1: 156,684,655 (GRCm39) P275S possibly damaging Het
Apoa5 C T 9: 46,181,847 (GRCm39) Q308* probably null Het
Arhgef12 T C 9: 42,932,013 (GRCm39) *106W probably null Het
Atp2c1 A G 9: 105,316,599 (GRCm39) Y485H probably benign Het
Atp6v1b1 C T 6: 83,720,074 (GRCm39) T3I possibly damaging Het
Btbd7 A T 12: 102,778,913 (GRCm39) I451N possibly damaging Het
Clasp1 T G 1: 118,518,194 (GRCm39) L1080R probably damaging Het
Clec4f A G 6: 83,623,915 (GRCm39) V408A probably benign Het
Clint1 T A 11: 45,797,233 (GRCm39) M438K possibly damaging Het
Cuzd1 A T 7: 130,913,373 (GRCm39) Y415N probably damaging Het
Ddias A G 7: 92,509,250 (GRCm39) F222L possibly damaging Het
Efcab7 A T 4: 99,757,815 (GRCm39) T321S probably benign Het
Fbn2 T C 18: 58,181,124 (GRCm39) probably null Het
Fcgr3 T C 1: 170,881,688 (GRCm39) R146G possibly damaging Het
Fkrp G A 7: 16,544,719 (GRCm39) A381V probably benign Het
Gatad2b T G 3: 90,262,986 (GRCm39) I476S probably damaging Het
Gm1527 C T 3: 28,975,783 (GRCm39) H557Y probably benign Het
Gm2431 A T 7: 141,811,599 (GRCm39) C102S unknown Het
Hoxd13 A G 2: 74,500,389 (GRCm39) N310S probably benign Het
Il9 T A 13: 56,627,208 (GRCm39) T135S probably benign Het
Ints4 A C 7: 97,162,786 (GRCm39) N476T probably benign Het
Kcnq4 A C 4: 120,559,624 (GRCm39) D525E probably benign Het
Kncn A T 4: 115,743,096 (GRCm39) Y57F probably damaging Het
Lpl TGG TG 8: 69,349,254 (GRCm39) probably null Het
Lrrfip2 A G 9: 111,028,829 (GRCm39) T351A probably damaging Het
Madd T C 2: 90,997,982 (GRCm39) E682G probably benign Het
Marchf7 A C 2: 60,064,526 (GRCm39) R267S probably damaging Het
Mmp16 T A 4: 18,051,767 (GRCm39) L252Q probably damaging Het
Mri1 A T 8: 84,980,554 (GRCm39) V296D possibly damaging Het
Myo3a A G 2: 22,404,638 (GRCm39) T665A probably benign Het
N4bp2 T C 5: 65,964,225 (GRCm39) V758A probably benign Het
Nbea T C 3: 55,573,116 (GRCm39) D2489G probably damaging Het
Neb T C 2: 52,146,757 (GRCm39) T2836A probably damaging Het
Nedd4l T A 18: 65,291,010 (GRCm39) V203E probably damaging Het
Nkpd1 C A 7: 19,257,846 (GRCm39) Q392K possibly damaging Het
Nploc4 G T 11: 120,273,395 (GRCm39) A576E probably benign Het
Nxph1 T A 6: 9,247,516 (GRCm39) N162K probably damaging Het
Or3a1 T C 11: 74,225,271 (GRCm39) Y262C probably damaging Het
Or7c70 T A 10: 78,682,805 (GRCm39) T315S probably benign Het
Pabpc2 T G 18: 39,908,169 (GRCm39) I478S probably benign Het
Pde7b G T 10: 20,311,990 (GRCm39) H190Q probably damaging Het
Plekha2 A T 8: 25,532,976 (GRCm39) S332T probably benign Het
Rapgef6 TG TGG 11: 54,437,223 (GRCm39) probably null Het
Rasl11a A T 5: 146,782,052 (GRCm39) H9L probably benign Het
Rer1 A T 4: 155,159,458 (GRCm39) F177I probably damaging Het
Rinl T C 7: 28,491,669 (GRCm39) L74P probably damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Het
Rttn T C 18: 88,991,655 (GRCm39) V78A probably benign Het
Skint5 A T 4: 113,703,508 (GRCm39) probably null Het
Tenm2 A C 11: 35,898,930 (GRCm39) Y2743D probably damaging Het
Tmem101 T C 11: 102,045,519 (GRCm39) Y110C probably damaging Het
Trim9 T C 12: 70,295,148 (GRCm39) N658S probably benign Het
Ucp1 A T 8: 84,017,317 (GRCm39) T36S probably benign Het
Vmn2r43 A G 7: 8,258,067 (GRCm39) I382T probably damaging Het
Zfp142 C T 1: 74,608,935 (GRCm39) R1620Q probably damaging Het
Zfp386 T C 12: 116,023,526 (GRCm39) S380P 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
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
Predicted Primers PCR Primer
(F):5'- AGCAGCAGTGTTTGTCACCACTC -3'
(R):5'- TACAGGGATGCTCTCTACCTTGCC -3'

Sequencing Primer
(F):5'- AGTGTTTGTCACCACTCATACAG -3'
(R):5'- TCCGCAGCTTTGTGGTC -3'
Posted On 2014-05-14