Incidental Mutation 'IGL01738:Ell'
ID105773
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 #IGL01738
Quality Score
Status
Chromosome8
Chromosomal Location70539457-70592858 bp(+) (GRCm38)
Type of Mutationunclassified (40 bp from exon)
DNA Base Change (assembly) T to A at 70581681 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000147325 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000093454] [ENSMUST00000210155]
Predicted Effect probably damaging
Transcript: ENSMUST00000093454
AA Change: V199E

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002
AA Change: V199E

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 null
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405L10Rik A T 8: 105,710,036 D288V probably damaging Het
Agtr1a G A 13: 30,381,038 V29I probably benign Het
Akap6 G T 12: 52,886,817 C364F probably damaging Het
Calcrl T G 2: 84,370,449 M84L probably benign Het
Cep128 C A 12: 91,230,842 G402C probably damaging Het
Cfap43 A G 19: 47,797,185 L422P probably damaging Het
Cnbd2 C A 2: 156,375,617 probably benign Het
Col27a1 A G 4: 63,263,779 probably benign Het
Cyp3a44 A G 5: 145,794,935 S134P probably damaging Het
Dync2h1 A C 9: 7,114,922 L179R possibly damaging Het
Gfm1 A G 3: 67,456,661 E490G probably benign Het
Glt1d1 T G 5: 127,632,355 probably benign Het
Gm10267 A T 18: 44,159,275 I10K possibly damaging Het
Htra4 A G 8: 25,025,711 V437A probably damaging Het
Ighv1-69 T C 12: 115,623,441 Q24R possibly damaging Het
Igkv14-111 G A 6: 68,256,459 probably benign Het
Ipcef1 A T 10: 6,890,575 I374N probably damaging Het
Iqgap1 T C 7: 80,723,900 D1447G possibly damaging Het
Mast4 A G 13: 102,737,241 F1681S probably damaging Het
Mmp3 A T 9: 7,446,946 N42I possibly damaging Het
Mybpc1 G T 10: 88,570,645 F126L probably damaging Het
Myo1e A G 9: 70,359,370 K631E probably damaging Het
Olfr902 A C 9: 38,449,646 Y258S probably damaging Het
Pcsk5 T A 19: 17,433,780 probably benign Het
Serpina3b T G 12: 104,130,832 L124R probably damaging Het
Srgap2 T C 1: 131,296,426 I95V probably benign Het
Sstr5 A T 17: 25,491,610 I215N probably damaging Het
Top3b G A 16: 16,880,604 V104M probably benign Het
Tspan8 G A 10: 115,817,665 probably null Het
Vmn2r102 A G 17: 19,677,758 Y345C probably damaging Het
Vmn2r17 G A 5: 109,429,498 G472S probably damaging Het
Zmpste24 A T 4: 121,061,111 L438Q probably damaging Het
Other mutations in Ell
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01400:Ell APN 8 70578913 missense probably damaging 1.00
IGL01666:Ell APN 8 70585813 missense probably benign
IGL02032:Ell APN 8 70586001 missense probably benign
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
Posted On2014-01-21