Incidental Mutation 'R6755:Elp6'
ID 531019
Institutional Source Beutler Lab
Gene Symbol Elp6
Ensembl Gene ENSMUSG00000054836
Gene Name elongator acetyltransferase complex subunit 6
Synonyms 2610002I17Rik, 2610001P13Rik, Tmem103
MMRRC Submission 044871-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R6755 (G1)
Quality Score 225.009
Status Not validated
Chromosome 9
Chromosomal Location 110134241-110151170 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110144893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 150 (E150G)
Ref Sequence ENSEMBL: ENSMUSP00000143622 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068071] [ENSMUST00000198247] [ENSMUST00000199114] [ENSMUST00000199592]
AlphaFold Q8BK75
Predicted Effect probably benign
Transcript: ENSMUST00000068071
AA Change: E130G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000069017
Gene: ENSMUSG00000054836
AA Change: E130G

DomainStartEndE-ValueType
Pfam:ELP6 2 251 7.4e-117 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196855
Predicted Effect probably benign
Transcript: ENSMUST00000198247
SMART Domains Protein: ENSMUSP00000143595
Gene: ENSMUSG00000054836

DomainStartEndE-ValueType
Pfam:ELP6 2 110 6.2e-53 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000199114
AA Change: E150G

PolyPhen 2 Score 0.898 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000143622
Gene: ENSMUSG00000054836
AA Change: E150G

DomainStartEndE-ValueType
Pfam:ELP6 18 166 6.9e-61 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199592
AA Change: E133G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000142823
Gene: ENSMUSG00000054836
AA Change: E133G

DomainStartEndE-ValueType
Pfam:DUF2348 1 251 1.5e-132 PFAM
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210408I21Rik C T 13: 77,475,994 (GRCm39) T1101M probably benign Het
4930433I11Rik T C 7: 40,643,734 (GRCm39) S468P probably damaging Het
Adam33 A G 2: 130,895,069 (GRCm39) V637A probably damaging Het
Adcy5 G A 16: 35,124,004 (GRCm39) V1228M possibly damaging Het
Ahi1 G T 10: 20,893,812 (GRCm39) V848F probably damaging Het
Akt3 A T 1: 176,877,756 (GRCm39) Y337* probably null Het
B4galt6 T C 18: 20,822,386 (GRCm39) E264G probably benign Het
Bpifb4 A G 2: 153,799,658 (GRCm39) T556A probably damaging Het
Bptf A T 11: 106,938,082 (GRCm39) S64T probably benign Het
C3ar1 A G 6: 122,826,817 (GRCm39) S467P probably benign Het
Cables1 G T 18: 12,072,882 (GRCm39) S479I probably null Het
Cbl T C 9: 44,084,671 (GRCm39) I155V probably damaging Het
Cdh16 T C 8: 105,345,880 (GRCm39) D297G probably damaging Het
Cdk8 T A 5: 146,205,126 (GRCm39) H102Q probably damaging Het
Cpn2 A T 16: 30,079,149 (GRCm39) L184Q probably damaging Het
Ctso T A 3: 81,849,609 (GRCm39) H109Q probably benign Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Drc1 A G 5: 30,512,490 (GRCm39) E299G probably damaging Het
Fat3 C T 9: 15,826,357 (GRCm39) E4532K possibly damaging Het
Fbn2 A G 18: 58,246,405 (GRCm39) L499S possibly damaging Het
Fgf10 C A 13: 118,925,821 (GRCm39) A200D probably damaging Het
Fhad1 T C 4: 141,691,915 (GRCm39) E407G probably damaging Het
Hif1an T C 19: 44,556,891 (GRCm39) V232A probably damaging Het
Ift172 T A 5: 31,418,342 (GRCm39) K1214* probably null Het
Il20ra T C 10: 19,626,542 (GRCm39) Y189H probably benign Het
Isg20l2 T A 3: 87,838,996 (GRCm39) I69N probably benign Het
Kif11 A G 19: 37,398,199 (GRCm39) D675G probably benign Het
Klhdc7a T A 4: 139,693,786 (GRCm39) D387V possibly damaging Het
Lrrc4 T C 6: 28,831,292 (GRCm39) N108D probably damaging Het
Ltbp2 T A 12: 84,841,847 (GRCm39) E944V probably damaging Het
Magi1 C T 6: 93,685,158 (GRCm39) S740N probably damaging Het
Med26 A G 8: 73,249,677 (GRCm39) I474T probably damaging Het
Mgst1 T A 6: 138,124,770 (GRCm39) M68K probably damaging Het
Myh7 G A 14: 55,229,770 (GRCm39) A91V possibly damaging Het
Nhlrc2 G A 19: 56,580,216 (GRCm39) V450I probably benign Het
Nup160 T G 2: 90,530,800 (GRCm39) F486C probably damaging Het
Nup50l T C 6: 96,141,953 (GRCm39) T364A probably benign Het
Obscn A T 11: 58,994,152 (GRCm39) Y1602N probably damaging Het
Or52ae9 T A 7: 103,389,707 (GRCm39) T247S probably damaging Het
Or5ak4 C A 2: 85,162,142 (GRCm39) M33I probably benign Het
Otogl A T 10: 107,689,164 (GRCm39) Y955* probably null Het
Pi4ka A G 16: 17,194,846 (GRCm39) L184P possibly damaging Het
Pianp T C 6: 124,976,347 (GRCm39) V52A probably benign Het
Plekhh2 T C 17: 84,899,013 (GRCm39) Y997H probably damaging Het
Plekhm1 G T 11: 103,278,069 (GRCm39) S342R possibly damaging Het
Poglut2 C T 1: 44,149,894 (GRCm39) probably null Het
Ppp4r4 T A 12: 103,551,996 (GRCm39) V81E probably damaging Het
Pramel52-ps A G 5: 94,529,268 (GRCm39) T13A probably benign Het
Ptafr A G 4: 132,306,657 (GRCm39) T16A probably benign Het
Ptpn23 A T 9: 110,218,855 (GRCm39) L445Q probably damaging Het
Rasa1 A T 13: 85,374,717 (GRCm39) F751L possibly damaging Het
Sap18 A C 14: 58,039,474 (GRCm39) D153A probably damaging Het
Slc38a11 C T 2: 65,194,235 (GRCm39) G10D probably benign Het
Snx32 T C 19: 5,560,372 (GRCm39) N10D probably benign Het
Sox6 T C 7: 115,261,677 (GRCm39) T180A probably damaging Het
Srrt T C 5: 137,301,192 (GRCm39) K78R probably damaging Het
Syce3 T C 15: 89,281,567 (GRCm39) D24G probably damaging Het
Taok3 T A 5: 117,344,732 (GRCm39) I153N probably damaging Het
Tesk1 A G 4: 43,445,991 (GRCm39) Q308R probably benign Het
Tm7sf3 A T 6: 146,511,471 (GRCm39) probably null Het
Tmbim6 T C 15: 99,300,034 (GRCm39) V50A probably benign Het
Tmem107 T C 11: 68,961,837 (GRCm39) V22A probably damaging Het
Ttc12 T C 9: 49,364,646 (GRCm39) I377V probably benign Het
Ufl1 T A 4: 25,262,316 (GRCm39) N310I probably damaging Het
Ush2a C A 1: 188,175,416 (GRCm39) N1171K possibly damaging Het
Utrn A T 10: 12,574,831 (GRCm39) V1032E probably benign 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
R2311:Elp6 UTSW 9 110,149,886 (GRCm39) missense probably benign 0.33
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
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'- TTGGTGTCACTTTGTCCCAG -3'
(R):5'- AGCACAGTCTGGGTTCTCAG -3'

Sequencing Primer
(F):5'- GATCTGAGAATCAAGGTCTCCCTG -3'
(R):5'- TTCTCAGGGACCACAGCAGTC -3'
Posted On 2018-08-01