Incidental Mutation 'IGL01666:Ell'
ID103302
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ell
Ensembl Gene ENSMUSG00000070002
Gene Nameelongation factor RNA polymerase II
SynonymsEll1, Men, eleven-nineteen lysine-rich leukemia gene
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01666
Quality Score
Status
Chromosome8
Chromosomal Location70539457-70592858 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 70585813 bp
ZygosityHeterozygous
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]
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
9530053A07Rik G A 7: 28,153,292 V1335M probably damaging Het
9530077C05Rik A G 9: 22,431,698 D163G probably benign Het
Adgrb3 C A 1: 25,460,751 A664S probably damaging Het
Ankrd61 T A 5: 143,891,136 L297F probably damaging Het
Chrnd A T 1: 87,198,736 S513C possibly damaging Het
Col24a1 G A 3: 145,344,686 V645M possibly damaging Het
Csn3 T C 5: 87,930,157 V174A unknown Het
D630039A03Rik C T 4: 57,910,570 V81I possibly damaging Het
Deptor G A 15: 55,149,379 R54Q probably damaging Het
Itga2 A G 13: 114,837,091 probably null Het
Itpr3 A G 17: 27,117,178 I2293V probably benign Het
Mrps27 A G 13: 99,409,816 E241G probably damaging Het
Mut T C 17: 40,958,811 L687P probably damaging Het
Myh9 C T 15: 77,761,931 A1951T probably benign Het
Oca2 G A 7: 56,314,811 probably null Het
Olfr135 C T 17: 38,208,889 L215F probably benign Het
Olfr215 T A 6: 116,582,335 I204F possibly damaging Het
Ptgdr2 T C 19: 10,940,910 F264L probably benign Het
Ptpn23 T C 9: 110,386,545 T1384A possibly damaging Het
Rasgrf2 A T 13: 92,038,210 D170E probably damaging Het
Rnf20 C T 4: 49,654,486 Q848* probably null Het
Other mutations in Ell
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Ell APN 8 70578913 missense probably damaging 1.00
IGL01738:Ell APN 8 70581681 unclassified probably benign
IGL02032:Ell APN 8 70586001 missense probably benign
PIT4418001:Ell UTSW 8 70581681 missense probably damaging 0.96
R1403:Ell UTSW 8 70591488 unclassified probably benign
R1735:Ell UTSW 8 70578940 missense possibly damaging 0.88
R4164:Ell UTSW 8 70581573 missense probably damaging 1.00
R4705:Ell UTSW 8 70578934 missense possibly damaging 0.92
R5028:Ell UTSW 8 70590699 missense probably damaging 1.00
R5350:Ell UTSW 8 70539789 missense probably damaging 1.00
R5590:Ell UTSW 8 70539707 start codon destroyed possibly damaging 0.59
R5615:Ell UTSW 8 70590732 missense probably benign 0.04
R6333:Ell UTSW 8 70591538 missense probably damaging 1.00
R6490:Ell UTSW 8 70572903 missense probably damaging 0.99
R6834:Ell UTSW 8 70579134 missense probably damaging 1.00
R7029:Ell UTSW 8 70579229 missense probably damaging 0.99
R7162:Ell UTSW 8 70578909 missense possibly damaging 0.82
R7477:Ell UTSW 8 70585218 missense probably benign 0.01
R7702:Ell UTSW 8 70539714 missense possibly damaging 0.73
R8711:Ell UTSW 8 70581681 unclassified probably benign
Z1176:Ell UTSW 8 70578927 missense probably damaging 1.00
Posted On2014-01-21