Incidental Mutation 'R2311:Elp6'
ID 245348
Institutional Source Beutler Lab
Gene Symbol Elp6
Ensembl Gene ENSMUSG00000054836
Gene Name elongator acetyltransferase complex subunit 6
Synonyms 2610002I17Rik, 2610001P13Rik, Tmem103
MMRRC Submission 040310-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R2311 (G1)
Quality Score 144
Status Validated
Chromosome 9
Chromosomal Location 110134241-110151170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110149886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 223 (S223G)
Ref Sequence ENSEMBL: ENSMUSP00000069017 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068071] [ENSMUST00000198247] [ENSMUST00000199114] [ENSMUST00000199592]
AlphaFold Q8BK75
Predicted Effect probably benign
Transcript: ENSMUST00000068071
AA Change: S223G

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000069017
Gene: ENSMUSG00000054836
AA Change: S223G

DomainStartEndE-ValueType
Pfam:ELP6 2 251 7.4e-117 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000198247
SMART Domains Protein: ENSMUSP00000143595
Gene: ENSMUSG00000054836

DomainStartEndE-ValueType
Pfam:ELP6 2 110 6.2e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199114
SMART Domains Protein: ENSMUSP00000143622
Gene: ENSMUSG00000054836

DomainStartEndE-ValueType
Pfam:ELP6 18 166 6.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199592
AA Change: S226G

PolyPhen 2 Score 0.213 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000142823
Gene: ENSMUSG00000054836
AA Change: S226G

DomainStartEndE-ValueType
Pfam:DUF2348 1 251 1.5e-132 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.3%
Validation Efficiency 100% (41/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e G A 15: 77,602,236 (GRCm39) R278H probably benign Het
Arhgef17 A G 7: 100,578,111 (GRCm39) S946P probably benign Het
Capsl A T 15: 9,462,689 (GRCm39) R110* probably null Het
Ddx41 G A 13: 55,682,293 (GRCm39) R205W possibly damaging Het
Dock8 T A 19: 25,160,368 (GRCm39) I1757N possibly damaging Het
Dthd1 T C 5: 62,996,580 (GRCm39) probably benign Het
Eif5a2 A G 3: 28,836,325 (GRCm39) E42G possibly damaging Het
Elovl3 A G 19: 46,121,639 (GRCm39) S61G probably benign Het
Elp4 T C 2: 105,672,677 (GRCm39) N136S probably benign Het
Eml1 T A 12: 108,503,675 (GRCm39) D743E probably damaging Het
Ezh2 T C 6: 47,535,194 (GRCm39) Q85R probably damaging Het
Fermt3 C A 19: 6,991,530 (GRCm39) C194F probably damaging Het
Flg A G 3: 93,200,260 (GRCm39) probably benign Het
Gfi1b C T 2: 28,500,186 (GRCm39) G282R probably damaging Het
Gpr176 A T 2: 118,109,927 (GRCm39) I444K probably benign Het
Gvin-ps3 T C 7: 105,682,797 (GRCm39) K153E probably damaging Het
Gys2 A T 6: 142,408,970 (GRCm39) M95K possibly damaging Het
Hgs C T 11: 120,370,474 (GRCm39) R167W probably damaging Het
Map3k20 T C 2: 72,198,784 (GRCm39) I130T probably damaging Het
Nckap5 A T 1: 126,456,489 (GRCm39) Y25N probably damaging Het
Npc1 C T 18: 12,335,240 (GRCm39) V629I probably benign Het
Nrl C A 14: 55,759,909 (GRCm39) S6I probably damaging Het
Or10am5 A T 7: 6,517,741 (GRCm39) M229K probably benign Het
Or4c29 T A 2: 88,739,813 (GRCm39) D308V probably benign Het
Or5d37 T C 2: 87,924,178 (GRCm39) N34S probably benign Het
Oxct2b T C 4: 123,011,211 (GRCm39) F377S probably damaging Het
Plb1 T C 5: 32,427,162 (GRCm39) S91P probably benign Het
Plxna2 C T 1: 194,431,625 (GRCm39) S538F probably damaging Het
Postn A T 3: 54,292,644 (GRCm39) Y737F probably damaging Het
Serpina1e T A 12: 103,917,388 (GRCm39) I94F possibly damaging Het
Serpine2 A G 1: 79,788,265 (GRCm39) probably benign Het
Stox2 T C 8: 47,645,013 (GRCm39) R816G probably damaging Het
Tep1 T C 14: 51,071,024 (GRCm39) N2092D possibly damaging Het
Tmem186 A G 16: 8,453,748 (GRCm39) V171A probably benign Het
Trim58 G A 11: 58,533,934 (GRCm39) V163M probably benign Het
Trim59 G T 3: 68,945,162 (GRCm39) C59* probably null Het
Ulk1 C T 5: 110,937,223 (GRCm39) R691Q probably benign Het
Vill A G 9: 118,894,965 (GRCm39) N61S probably benign Het
Zer1 C T 2: 29,991,834 (GRCm39) R662H probably damaging Het
Zfp644 A C 5: 106,782,822 (GRCm39) V1184G probably benign Het
Zfp974 A G 7: 27,609,866 (GRCm39) S620P possibly damaging Het
Other mutations in Elp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Elp6 APN 9 110,139,193 (GRCm39) missense probably damaging 1.00
R1438:Elp6 UTSW 9 110,143,123 (GRCm39) missense probably damaging 1.00
R4612:Elp6 UTSW 9 110,143,087 (GRCm39) missense probably damaging 1.00
R4976:Elp6 UTSW 9 110,143,141 (GRCm39) missense probably damaging 0.96
R5421:Elp6 UTSW 9 110,143,132 (GRCm39) missense probably benign 0.01
R5433:Elp6 UTSW 9 110,144,851 (GRCm39) missense probably damaging 1.00
R6755:Elp6 UTSW 9 110,144,893 (GRCm39) missense possibly damaging 0.90
R7502:Elp6 UTSW 9 110,134,376 (GRCm39) missense possibly damaging 0.93
R7773:Elp6 UTSW 9 110,141,627 (GRCm39) splice site probably null
R8264:Elp6 UTSW 9 110,148,755 (GRCm39) missense probably damaging 0.99
R9104:Elp6 UTSW 9 110,134,397 (GRCm39) missense probably benign 0.00
R9251:Elp6 UTSW 9 110,134,666 (GRCm39) missense unknown
R9375:Elp6 UTSW 9 110,144,852 (GRCm39) nonsense probably null
R9443:Elp6 UTSW 9 110,150,004 (GRCm39) missense probably damaging 1.00
R9553:Elp6 UTSW 9 110,144,965 (GRCm39) missense probably damaging 1.00
RF017:Elp6 UTSW 9 110,148,777 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTTCCCTATGAGAAGCAAGCAG -3'
(R):5'- CAGCCAGGGTGCTTCTTAAC -3'

Sequencing Primer
(F):5'- TTCCCTATGAGAAGCAAGCAGTATAG -3'
(R):5'- CAGGGTGCTTCTTAACTGTCCAAAG -3'
Posted On 2014-10-30