Incidental Mutation 'IGL01666:Ell'
ID 103302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ell
Ensembl Gene ENSMUSG00000070002
Gene Name elongation factor RNA polymerase II
Synonyms Men, eleven-nineteen lysine-rich leukemia gene, Ell1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01666
Quality Score
Status
Chromosome 8
Chromosomal Location 70992345-71045508 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 71038463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 400 (H400R)
Ref Sequence ENSEMBL: ENSMUSP00000091163 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093454] [ENSMUST00000210155]
AlphaFold O08856
Predicted Effect probably benign
Transcript: ENSMUST00000093454
AA Change: H400R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: H400R

DomainStartEndE-ValueType
Pfam:ELL 6 289 2.2e-107 PFAM
low complexity region 403 416 N/A INTRINSIC
low complexity region 427 445 N/A INTRINSIC
low complexity region 447 471 N/A INTRINSIC
Pfam:Occludin_ELL 494 595 6.4e-36 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000210155
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele die prior to E6.5 but after implantation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 C A 1: 25,499,832 (GRCm39) A664S probably damaging Het
Ankrd61 T A 5: 143,827,954 (GRCm39) L297F probably damaging Het
Chrnd A T 1: 87,126,458 (GRCm39) S513C possibly damaging Het
Col24a1 G A 3: 145,050,447 (GRCm39) V645M possibly damaging Het
Csn3 T C 5: 88,078,016 (GRCm39) V174A unknown Het
D630039A03Rik C T 4: 57,910,570 (GRCm39) V81I possibly damaging Het
Deptor G A 15: 55,012,775 (GRCm39) R54Q probably damaging Het
Fcgbpl1 G A 7: 27,852,717 (GRCm39) V1335M probably damaging Het
Itga2 A G 13: 114,973,627 (GRCm39) probably null Het
Itpr3 A G 17: 27,336,152 (GRCm39) I2293V probably benign Het
Matcap2 A G 9: 22,342,994 (GRCm39) D163G probably benign Het
Mmut T C 17: 41,269,702 (GRCm39) L687P probably damaging Het
Mrps27 A G 13: 99,546,324 (GRCm39) E241G probably damaging Het
Myh9 C T 15: 77,646,131 (GRCm39) A1951T probably benign Het
Oca2 G A 7: 55,964,559 (GRCm39) probably null Het
Or2n1c C T 17: 38,519,780 (GRCm39) L215F probably benign Het
Or6d15 T A 6: 116,559,296 (GRCm39) I204F possibly damaging Het
Ptgdr2 T C 19: 10,918,274 (GRCm39) F264L probably benign Het
Ptpn23 T C 9: 110,215,613 (GRCm39) T1384A possibly damaging Het
Rasgrf2 A T 13: 92,174,718 (GRCm39) D170E probably damaging Het
Rnf20 C T 4: 49,654,486 (GRCm39) Q848* probably null Het
Other mutations in Ell
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Ell APN 8 71,031,563 (GRCm39) missense probably damaging 1.00
IGL01738:Ell APN 8 71,034,331 (GRCm39) unclassified probably benign
IGL02032:Ell APN 8 71,038,651 (GRCm39) missense probably benign
PIT4418001:Ell UTSW 8 71,034,331 (GRCm39) missense probably damaging 0.96
R1403:Ell UTSW 8 71,044,138 (GRCm39) unclassified probably benign
R1735:Ell UTSW 8 71,031,590 (GRCm39) missense possibly damaging 0.88
R4164:Ell UTSW 8 71,034,223 (GRCm39) missense probably damaging 1.00
R4705:Ell UTSW 8 71,031,584 (GRCm39) missense possibly damaging 0.92
R5028:Ell UTSW 8 71,043,349 (GRCm39) missense probably damaging 1.00
R5350:Ell UTSW 8 70,992,439 (GRCm39) missense probably damaging 1.00
R5590:Ell UTSW 8 70,992,357 (GRCm39) start codon destroyed possibly damaging 0.59
R5615:Ell UTSW 8 71,043,382 (GRCm39) missense probably benign 0.04
R6333:Ell UTSW 8 71,044,188 (GRCm39) missense probably damaging 1.00
R6490:Ell UTSW 8 71,025,553 (GRCm39) missense probably damaging 0.99
R6834:Ell UTSW 8 71,031,784 (GRCm39) missense probably damaging 1.00
R7029:Ell UTSW 8 71,031,879 (GRCm39) missense probably damaging 0.99
R7162:Ell UTSW 8 71,031,559 (GRCm39) missense possibly damaging 0.82
R7477:Ell UTSW 8 71,037,868 (GRCm39) missense probably benign 0.01
R7702:Ell UTSW 8 70,992,364 (GRCm39) missense possibly damaging 0.73
R8711:Ell UTSW 8 71,034,331 (GRCm39) unclassified probably benign
R9004:Ell UTSW 8 71,031,604 (GRCm39) missense probably damaging 0.98
Z1176:Ell UTSW 8 71,031,577 (GRCm39) missense probably damaging 1.00
Posted On 2014-01-21