Incidental Mutation 'R1403:Ell'
ID188615
Institutional Source Beutler Lab
Gene Symbol Ell
Ensembl Gene ENSMUSG00000070002
Gene Nameelongation factor RNA polymerase II
SynonymsEll1, Men, eleven-nineteen lysine-rich leukemia gene
MMRRC Submission 039465-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R1403 (G1)
Quality Score225
Status Not validated
Chromosome8
Chromosomal Location70539457-70592858 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to A at 70591488 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000019283] [ENSMUST00000093454] [ENSMUST00000209285] [ENSMUST00000210005] [ENSMUST00000211117]
Predicted Effect probably benign
Transcript: ENSMUST00000019283
SMART Domains Protein: ENSMUSP00000019283
Gene: ENSMUSG00000019139

DomainStartEndE-ValueType
low complexity region 44 54 N/A INTRINSIC
Pfam:NAD_binding_5 59 491 4.4e-141 PFAM
Pfam:Inos-1-P_synth 307 420 6.3e-48 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000093454
SMART Domains Protein: ENSMUSP00000091163
Gene: ENSMUSG00000070002

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: ENSMUST00000209285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209751
Predicted Effect probably benign
Transcript: ENSMUST00000210005
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210358
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210878
Predicted Effect probably benign
Transcript: ENSMUST00000211117
Predicted Effect probably benign
Transcript: ENSMUST00000211501
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211773
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.0%
  • 20x: 94.5%
Validation Efficiency 94% (51/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 G A 4: 53,059,253 probably benign Het
AC238840.3 T G 7: 38,867,921 I28L probably benign Het
Acsf2 G T 11: 94,562,874 N420K probably benign Het
Adam26a A T 8: 43,569,192 C420* probably null Het
Afap1l1 T C 18: 61,741,838 Y424C probably damaging Het
Agl A G 3: 116,782,597 V553A probably benign Het
Akr7a5 T A 4: 139,318,123 M325K probably damaging Het
Akt3 C T 1: 177,131,110 probably benign Het
Aldh7a1 C A 18: 56,559,269 E87* probably null Het
Arhgap29 A G 3: 121,973,929 K7E probably damaging Het
Brca2 T A 5: 150,542,649 D1959E probably benign Het
Cdc42se2 A G 11: 54,720,366 probably benign Het
Cdh7 G A 1: 110,061,132 V255I probably benign Het
Chil5 G T 3: 106,018,093 Q171K probably benign Het
Cul9 C G 17: 46,522,175 A1326P probably damaging Het
Dhrs7c A T 11: 67,811,650 I155F probably damaging Het
Dip2c A G 13: 9,553,264 probably null Het
Fam124b T C 1: 80,213,339 Y109C possibly damaging Het
Gak T A 5: 108,591,145 K156M probably damaging Het
Gm9797 C A 10: 11,609,550 noncoding transcript Het
Got1l1 C G 8: 27,200,717 probably null Het
Grm1 T C 10: 11,080,135 D135G probably benign Het
Hrh3 T G 2: 180,102,754 D131A probably damaging Het
Itpr1 A T 6: 108,389,553 Q979L probably null Het
Kdm7a C A 6: 39,151,253 probably benign Het
Klb G C 5: 65,348,746 R112P possibly damaging Het
Lingo2 A T 4: 35,709,420 C187S possibly damaging Het
Lrp1 T A 10: 127,581,891 probably null Het
Ltbp4 T C 7: 27,329,039 N266S unknown Het
Mgam G A 6: 40,666,881 S581N possibly damaging Het
Mrgpra9 T A 7: 47,235,638 I94L probably benign Het
Msantd4 A T 9: 4,384,023 I115F probably benign Het
Mterf3 A G 13: 66,929,880 probably benign Het
Neurl1a C A 19: 47,253,711 N414K probably damaging Het
Nfkbiz A G 16: 55,816,470 probably benign Het
Nrxn1 A C 17: 90,643,053 L566R probably benign Het
Nsmce1 A G 7: 125,467,855 probably benign Het
Olfr483 T A 7: 108,103,615 I102N probably benign Het
Prl7d1 A T 13: 27,709,197 F243I possibly damaging Het
Rbm27 T C 18: 42,317,681 S509P probably damaging Het
Rnf126 C T 10: 79,760,868 A239T probably benign Het
Rnf44 C T 13: 54,682,008 E306K probably damaging Het
Rp1 T C 1: 4,346,297 R1531G possibly damaging Het
Sf3b4 A G 3: 96,173,637 probably null Het
Stk4 C T 2: 164,100,528 T360M probably benign Het
Syt15 C A 14: 34,221,202 probably benign Het
Vcan T A 13: 89,688,484 E2980D probably benign Het
Vps13b A G 15: 35,709,122 probably benign Het
Vwa2 C T 19: 56,881,138 P2S unknown Het
Wdr77 G A 3: 105,967,257 V322I possibly damaging Het
Zfp12 C A 5: 143,244,780 Y287* probably null Het
Zfp937 T A 2: 150,238,948 Y299* probably null 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
IGL01738:Ell APN 8 70581681 unclassified probably null
IGL02032:Ell APN 8 70586001 missense probably benign
PIT4418001:Ell UTSW 8 70581681 missense probably damaging 0.96
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
Predicted Primers
Posted On2014-05-09