Incidental Mutation 'R8264:Elp6'
ID 639734
Institutional Source Beutler Lab
Gene Symbol Elp6
Ensembl Gene ENSMUSG00000054836
Gene Name elongator acetyltransferase complex subunit 6
Synonyms 2610001P13Rik, 2610002I17Rik, Tmem103
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.949) question?
Stock # R8264 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110305173-110322102 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 110319687 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 215 (T215A)
Ref Sequence ENSEMBL: ENSMUSP00000142823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068071] [ENSMUST00000198247] [ENSMUST00000199114] [ENSMUST00000199592]
AlphaFold Q8BK75
Predicted Effect probably damaging
Transcript: ENSMUST00000068071
AA Change: T212A

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000069017
Gene: ENSMUSG00000054836
AA Change: T212A

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 damaging
Transcript: ENSMUST00000199592
AA Change: T215A

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000142823
Gene: ENSMUSG00000054836
AA Change: T215A

DomainStartEndE-ValueType
Pfam:DUF2348 1 251 1.5e-132 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 98% (51/52)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik T A 3: 138,067,782 C911S probably damaging Het
Abcc4 T A 14: 118,594,842 N792I possibly damaging Het
Acacb A T 5: 114,207,366 H960L probably benign Het
Aox1 A G 1: 58,053,714 T162A possibly damaging Het
Cacna1g T C 11: 94,473,566 S18G probably benign Het
Chfr T A 5: 110,152,434 I348N possibly damaging Het
Cntln G A 4: 85,098,411 R12Q probably damaging Het
Cyp2c40 A G 19: 39,807,527 S136P possibly damaging Het
Dnah14 T A 1: 181,744,792 M2896K probably damaging Het
Esyt2 A C 12: 116,365,920 Q699H probably benign Het
Fbxo25 A G 8: 13,929,393 T204A possibly damaging Het
Fhdc1 A G 3: 84,455,032 S294P probably damaging Het
G530012D18Rik C G 1: 85,577,214 D113E unknown Het
Galnt10 A G 11: 57,782,206 I463V probably benign Het
Glce A G 9: 62,060,430 F480L probably benign Het
H2-Aa A G 17: 34,287,735 V11A probably benign Het
Hsd17b4 A G 18: 50,146,526 T191A possibly damaging Het
Itpr3 G T 17: 27,104,112 silent Het
Izumo4 G T 10: 80,702,738 G8V Het
Klk1b5 T A 7: 44,220,030 L178H probably damaging Het
Lama2 T C 10: 27,467,222 N85D probably benign Het
Liph A C 16: 21,983,971 I116R possibly damaging Het
Lpar5 T A 6: 125,081,502 V62D probably damaging Het
Map3k19 T A 1: 127,823,791 I303F Het
Mymk A G 2: 27,067,856 probably benign Het
Myo10 G A 15: 25,800,109 V1424M probably damaging Het
Myof T G 19: 37,921,433 Q1528P probably damaging Het
Ncapd3 T C 9: 27,094,742 probably benign Het
Nup214 T A 2: 31,994,726 Y500N possibly damaging Het
Olfr1040 T C 2: 86,146,194 D180G probably damaging Het
Papd4 C T 13: 93,175,569 G208S probably damaging Het
Pappa2 T C 1: 158,854,973 Y835C probably damaging Het
Pcdh18 T C 3: 49,756,581 E95G probably damaging Het
Phf3 A T 1: 30,831,057 N303K possibly damaging Het
Pnn C T 12: 59,072,577 H649Y unknown Het
Rab11fip1 G A 8: 27,152,480 Q764* probably null Het
Ralgapa2 A T 2: 146,333,450 M1762K possibly damaging Het
Rif1 G A 2: 52,090,278 A496T noncoding transcript Het
Rnase13 A T 14: 51,922,457 V75D probably damaging Het
Sema3c G A 5: 17,676,539 probably benign Het
Sema4c C G 1: 36,552,885 G266R probably damaging Het
Slfn5 A T 11: 82,956,550 D87V probably damaging Het
Smpd3 T C 8: 106,264,658 Y421C probably damaging Het
Snrnp40 T C 4: 130,378,074 V188A probably benign Het
Srms A G 2: 181,212,550 Y75H probably benign Het
Tex15 T C 8: 33,582,362 S2646P probably benign Het
Togaram1 A G 12: 64,995,556 I1130V probably benign Het
Ttf1 A G 2: 29,064,677 K18E possibly damaging Het
Unc5b G T 10: 60,768,334 T827K probably benign Het
Zfhx2 T A 14: 55,065,512 T1672S possibly damaging Het
Other mutations in Elp6
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00923:Elp6 APN 9 110310125 missense probably damaging 1.00
R1438:Elp6 UTSW 9 110314055 missense probably damaging 1.00
R2311:Elp6 UTSW 9 110320818 missense probably benign 0.33
R4612:Elp6 UTSW 9 110314019 missense probably damaging 1.00
R4976:Elp6 UTSW 9 110314073 missense probably damaging 0.96
R5421:Elp6 UTSW 9 110314064 missense probably benign 0.01
R5433:Elp6 UTSW 9 110315783 missense probably damaging 1.00
R6755:Elp6 UTSW 9 110315825 missense possibly damaging 0.90
R7502:Elp6 UTSW 9 110305308 missense possibly damaging 0.93
R7773:Elp6 UTSW 9 110312559 splice site probably null
R9104:Elp6 UTSW 9 110305329 missense probably benign 0.00
R9251:Elp6 UTSW 9 110305598 missense unknown
R9375:Elp6 UTSW 9 110315784 nonsense probably null
R9443:Elp6 UTSW 9 110320936 missense probably damaging 1.00
R9553:Elp6 UTSW 9 110315897 missense probably damaging 1.00
RF017:Elp6 UTSW 9 110319709 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCCTCTGACCCGGGTAT -3'
(R):5'- GCTTGTTAGCTAGACTGATTTTGAA -3'

Sequencing Primer
(F):5'- ATCCGTTTGTTAAGGACCAGG -3'
(R):5'- CCAACTTGGTCTACAGAGTGAGTTC -3'
Posted On 2020-07-28