Incidental Mutation 'R1443:Ell3'
ID 158627
Institutional Source Beutler Lab
Gene Symbol Ell3
Ensembl Gene ENSMUSG00000027246
Gene Name elongation factor RNA polymerase II-like 3
Synonyms
MMRRC Submission 039498-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1443 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 121269508-121273082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 121269946 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 388 (F388I)
Ref Sequence ENSEMBL: ENSMUSP00000112133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028679] [ENSMUST00000028683] [ENSMUST00000116432]
AlphaFold Q80VR2
Predicted Effect probably damaging
Transcript: ENSMUST00000028679
AA Change: F388I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246
AA Change: F388I

DomainStartEndE-ValueType
Pfam:ELL 15 123 2e-13 PFAM
low complexity region 240 261 N/A INTRINSIC
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 3.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028683
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Thioredoxin 26 131 5.2e-36 PFAM
Pfam:Thioredoxin_6 160 355 2e-29 PFAM
Pfam:Thioredoxin 377 483 9.5e-33 PFAM
low complexity region 487 503 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116432
AA Change: F388I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246
AA Change: F388I

DomainStartEndE-ValueType
Pfam:ELL 5 247 1.3e-43 PFAM
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140752
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153866
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 85.7%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,706,056 (GRCm39) M99V possibly damaging Het
Adamtsl2 T A 2: 26,993,078 (GRCm39) C703S possibly damaging Het
Afap1 G T 5: 36,126,005 (GRCm39) K333N probably damaging Het
Aldh3a2 G A 11: 61,155,133 (GRCm39) S137L probably damaging Het
Alkbh2 C T 5: 114,262,287 (GRCm39) E148K probably damaging Het
Aoc1 A T 6: 48,882,379 (GRCm39) K107M possibly damaging Het
Aoc1l1 A T 6: 48,952,849 (GRCm39) Y258F probably damaging Het
Bltp2 T A 11: 78,153,624 (GRCm39) S56R probably damaging Het
Bmp8a G T 4: 123,210,758 (GRCm39) S252R possibly damaging Het
C7 T C 15: 5,088,901 (GRCm39) I13M probably benign Het
Cblb T A 16: 51,959,974 (GRCm39) D322E possibly damaging Het
Cfap54 G A 10: 92,768,583 (GRCm39) T180I probably damaging Het
Clrn2 C T 5: 45,617,453 (GRCm39) A108V probably damaging Het
Cspg4 T A 9: 56,793,796 (GRCm39) D510E probably damaging Het
Cyp2c40 A T 19: 39,766,415 (GRCm39) N393K possibly damaging Het
Dcaf5 T C 12: 80,410,843 (GRCm39) Y294C probably damaging Het
Dclk3 T A 9: 111,298,088 (GRCm39) M544K probably benign Het
Fam78b A G 1: 166,906,329 (GRCm39) I163V probably damaging Het
Gnptab T C 10: 88,269,943 (GRCm39) L882P probably damaging Het
Herc2 A T 7: 55,854,481 (GRCm39) D3802V possibly damaging Het
Hs3st5 A G 10: 36,709,410 (GRCm39) E315G probably benign Het
Idh3b A T 2: 130,125,974 (GRCm39) probably null Het
Lama4 G A 10: 38,949,639 (GRCm39) E911K probably damaging Het
Macf1 A G 4: 123,404,800 (GRCm39) I436T probably damaging Het
Mgam C A 6: 40,736,714 (GRCm39) S871* probably null Het
Mtmr7 A G 8: 41,013,923 (GRCm39) S212P probably damaging Het
Mylk2 A G 2: 152,761,336 (GRCm39) T480A probably damaging Het
Myo3a A T 2: 22,287,437 (GRCm39) N191I probably damaging Het
Nanog C T 6: 122,688,734 (GRCm39) S105F probably damaging Het
Nanos2 A G 7: 18,721,564 (GRCm39) Y12C probably damaging Het
Nsg1 C T 5: 38,312,987 (GRCm39) V71I probably benign Het
Or10g3 A T 14: 52,610,408 (GRCm39) I34N probably damaging Het
Or13a1 T C 6: 116,471,386 (GRCm39) L272S probably benign Het
Or2ad1 C T 13: 21,326,337 (GRCm39) V297I probably benign Het
Or51a42 A T 7: 103,707,930 (GRCm39) I293N probably damaging Het
Or5b105 G T 19: 13,080,568 (GRCm39) Y33* probably null Het
Pcdhb17 A G 18: 37,619,701 (GRCm39) Q497R probably benign Het
Pcsk7 C A 9: 45,837,284 (GRCm39) P536Q probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Phyhip A G 14: 70,704,731 (GRCm39) K317E probably damaging Het
Pkhd1 C T 1: 20,604,782 (GRCm39) G1178R probably damaging Het
Ppp1r9a G A 6: 5,057,557 (GRCm39) G544D probably damaging Het
Ptpn3 T C 4: 57,225,775 (GRCm39) D480G probably benign Het
Ptprn2 A T 12: 117,217,235 (GRCm39) K918N probably damaging Het
Rab42 T C 4: 132,029,658 (GRCm39) D188G probably benign Het
Rasgrf2 C A 13: 92,131,795 (GRCm39) D20Y probably damaging Het
Ryr2 G A 13: 11,794,152 (GRCm39) T942I probably benign Het
Sbpl T C 17: 24,172,328 (GRCm39) K197R unknown Het
Slc44a1 T A 4: 53,561,069 (GRCm39) V595E probably damaging Het
Slc6a19 A G 13: 73,832,463 (GRCm39) M410T probably damaging Het
Sntb1 A T 15: 55,511,351 (GRCm39) L411H probably damaging Het
Synj2 A G 17: 6,073,940 (GRCm39) K245E probably damaging Het
Tasor2 T C 13: 3,625,543 (GRCm39) K1469R probably benign Het
Tmem131 G A 1: 36,864,559 (GRCm39) T558I probably damaging Het
Tnrc18 A T 5: 142,757,288 (GRCm39) S1078T unknown Het
Trmu T A 15: 85,781,302 (GRCm39) probably null Het
Ttn A T 2: 76,721,430 (GRCm39) probably benign Het
Tyw3 T C 3: 154,293,160 (GRCm39) T172A probably benign Het
Vldlr T C 19: 27,217,121 (GRCm39) I348T possibly damaging Het
Zfp114 A G 7: 23,877,194 (GRCm39) D12G probably damaging Het
Other mutations in Ell3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ell3 APN 2 121,270,761 (GRCm39) missense probably benign 0.02
IGL01348:Ell3 APN 2 121,272,277 (GRCm39) missense probably damaging 1.00
IGL01710:Ell3 APN 2 121,271,993 (GRCm39) missense probably damaging 0.99
K7371:Ell3 UTSW 2 121,269,969 (GRCm39) missense probably damaging 1.00
R1880:Ell3 UTSW 2 121,270,792 (GRCm39) missense probably benign 0.28
R6226:Ell3 UTSW 2 121,272,258 (GRCm39) missense probably damaging 0.96
R7417:Ell3 UTSW 2 121,270,891 (GRCm39) missense probably benign 0.45
R7733:Ell3 UTSW 2 121,273,001 (GRCm39) missense possibly damaging 0.90
R7798:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R7799:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8097:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8098:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8099:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8100:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
Predicted Primers PCR Primer
(F):5'- TGAGGAGATGATACCATGCCCACAC -3'
(R):5'- GACTTCAGCGAGGAACTCCAGAAC -3'

Sequencing Primer
(F):5'- TGCCCACACCCTAAAAAAAATTATGG -3'
(R):5'- CCCCTAAACATGTAATGTGACTAAG -3'
Posted On 2014-03-14