Incidental Mutation 'R9375:Elp6'
ID 709558
Institutional Source Beutler Lab
Gene Symbol Elp6
Ensembl Gene ENSMUSG00000054836
Gene Name elongator acetyltransferase complex subunit 6
Synonyms 2610002I17Rik, 2610001P13Rik, Tmem103
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.944) question?
Stock # R9375 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 110134241-110151170 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 110144852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Stop codon at position 119 (Y119*)
Ref Sequence ENSEMBL: ENSMUSP00000142823 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068071] [ENSMUST00000198247] [ENSMUST00000199114] [ENSMUST00000199592]
AlphaFold Q8BK75
Predicted Effect probably null
Transcript: ENSMUST00000068071
AA Change: Y116*
SMART Domains Protein: ENSMUSP00000069017
Gene: ENSMUSG00000054836
AA Change: Y116*

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 null
Transcript: ENSMUST00000199114
AA Change: Y136*
SMART Domains Protein: ENSMUSP00000143622
Gene: ENSMUSG00000054836
AA Change: Y136*

DomainStartEndE-ValueType
Pfam:ELP6 18 166 6.9e-61 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000199592
AA Change: Y119*
SMART Domains Protein: ENSMUSP00000142823
Gene: ENSMUSG00000054836
AA Change: Y119*

DomainStartEndE-ValueType
Pfam:DUF2348 1 251 1.5e-132 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 99% (72/73)
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,332,567 (GRCm39) D549G probably benign Het
Aamdc A G 7: 97,199,902 (GRCm39) V120A probably benign Het
Acp2 A T 2: 91,037,174 (GRCm39) Q251L probably benign Het
AI597479 C T 1: 43,150,505 (GRCm39) A205V possibly damaging Het
Apob A G 12: 8,029,261 (GRCm39) T44A possibly damaging Het
Arhgap18 G A 10: 26,648,610 (GRCm39) V11M probably damaging Het
Arhgef10l T G 4: 140,319,265 (GRCm39) H156P probably benign Het
Aste1 G A 9: 105,273,880 (GRCm39) C40Y probably benign Het
Ccn2 A T 10: 24,473,501 (GRCm39) M347L possibly damaging Het
Chd9 G A 8: 91,725,335 (GRCm39) probably null Het
Clec4n T A 6: 123,207,662 (GRCm39) F42L probably benign Het
Cngb1 T C 8: 96,026,350 (GRCm39) K144E unknown Het
Cyp4f17 A G 17: 32,747,746 (GRCm39) T485A probably damaging Het
Dcaf6 T A 1: 165,185,052 (GRCm39) Y480F probably damaging Het
Defa30 C T 8: 21,624,686 (GRCm39) T3I probably damaging Het
Dmxl1 T A 18: 50,091,477 (GRCm39) W2854R probably damaging Het
Dnah11 G A 12: 117,884,703 (GRCm39) T3783I possibly damaging Het
Dync1i1 T A 6: 5,913,443 (GRCm39) F225L possibly damaging Het
Enpep A T 3: 129,125,529 (GRCm39) M201K probably benign Het
Fam161a A T 11: 22,970,661 (GRCm39) R280W probably damaging Het
Fam98a T C 17: 75,848,330 (GRCm39) N128S possibly damaging Het
Fpgt A T 3: 154,792,934 (GRCm39) D364E probably benign Het
G3bp1 T A 11: 55,390,439 (GRCm39) M448K probably damaging Het
Gadd45b T C 10: 80,766,284 (GRCm39) M16T probably benign Het
Gdi2 A T 13: 3,614,869 (GRCm39) I383F probably benign Het
H2-T13 T C 17: 36,391,993 (GRCm39) T27A possibly damaging Het
Igtp T G 11: 58,097,026 (GRCm39) L66V probably damaging Het
Kcne4 G A 1: 78,795,623 (GRCm39) M90I probably benign Het
Lmo7 T A 14: 102,136,123 (GRCm39) M732K probably damaging Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Mast4 T G 13: 102,917,753 (GRCm39) S552R probably damaging Het
Meak7 G A 8: 120,498,096 (GRCm39) A136V probably benign Het
Mff A T 1: 82,707,007 (GRCm39) M11L probably benign Het
Mterf2 T C 10: 84,956,327 (GRCm39) E99G probably damaging Het
Myef2l T C 3: 10,153,791 (GRCm39) S187P probably benign Het
Myom2 T A 8: 15,149,210 (GRCm39) N560K probably damaging Het
Nab2 A G 10: 127,500,580 (GRCm39) S171P probably damaging Het
Nhlrc3 T C 3: 53,369,190 (GRCm39) N83S possibly damaging Het
Nod2 A T 8: 89,391,033 (GRCm39) I447F probably damaging Het
Npat T A 9: 53,474,456 (GRCm39) D749E possibly damaging Het
Nxph4 A G 10: 127,362,631 (GRCm39) S87P probably benign Het
Or2y1f T A 11: 49,184,902 (GRCm39) Y251* probably null Het
Or51i2 G T 7: 103,689,273 (GRCm39) R90L possibly damaging Het
Or5d47 G A 2: 87,804,526 (GRCm39) T161M possibly damaging Het
Or6c6 T A 10: 129,186,989 (GRCm39) S186T probably damaging Het
Or9q2 T A 19: 13,772,214 (GRCm39) T254S probably damaging Het
Pcdha3 G A 18: 37,079,353 (GRCm39) V32I probably benign Het
Pcdhgc3 A T 18: 37,939,691 (GRCm39) T31S probably benign Het
Phldb3 A G 7: 24,323,297 (GRCm39) R391G probably damaging Het
Piezo1 A G 8: 123,228,604 (GRCm39) V257A Het
Pip5k1b T A 19: 24,416,442 (GRCm39) Q15L probably benign Het
Plxnc1 T C 10: 94,649,093 (GRCm39) N1229D probably benign Het
Ptpn12 A G 5: 21,224,212 (GRCm39) V127A probably benign Het
Ptprr T A 10: 116,109,724 (GRCm39) V655D probably benign Het
Rbbp8 A G 18: 11,838,888 (GRCm39) T190A probably benign Het
Rnf17 T A 14: 56,719,579 (GRCm39) V943E probably damaging Het
Rnpc3 C T 3: 113,404,913 (GRCm39) G414D probably damaging Het
Robo4 T A 9: 37,316,158 (GRCm39) N387K probably damaging Het
Sall4 G A 2: 168,597,781 (GRCm39) T353M probably damaging Het
Serpinb13 T C 1: 106,909,997 (GRCm39) I38T probably damaging Het
Sgsm1 A T 5: 113,422,139 (GRCm39) I218N unknown Het
Sntg2 T A 12: 30,293,343 (GRCm39) probably null Het
Taf1c G A 8: 120,325,393 (GRCm39) S823F probably damaging Het
Timd6 T A 11: 46,468,246 (GRCm39) C107S probably damaging Het
Trhde T G 10: 114,244,598 (GRCm39) I963L probably damaging Het
Trim43b T C 9: 88,967,619 (GRCm39) Y339C probably damaging Het
Trp53 T A 11: 69,480,537 (GRCm39) probably null Het
Tubg2 T C 11: 101,051,621 (GRCm39) V282A probably benign Het
Ube2g1 C T 11: 72,553,943 (GRCm39) probably benign Het
Usp34 C A 11: 23,437,203 (GRCm39) A3341E Het
Vmn2r12 T A 5: 109,233,986 (GRCm39) H742L probably damaging Het
Vmn2r24 T C 6: 123,792,542 (GRCm39) V623A probably damaging Het
Vmn2r5 A T 3: 64,411,316 (GRCm39) D417E probably damaging Het
Vmn2r-ps158 C T 7: 42,673,499 (GRCm39) P193S possibly damaging Het
Xirp2 A T 2: 67,342,118 (GRCm39) D1453V probably damaging Het
Zfp2 T C 11: 50,791,042 (GRCm39) S334G probably 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
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
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
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'- TACCTTCAGTTCGCAGCACAC -3'

Sequencing Primer
(F):5'- GATCTGAGAATCAAGGTCTCCCTG -3'
(R):5'- ACCGTGGCTCTGCAGTACTG -3'
Posted On 2022-04-18