Incidental Mutation 'IGL03035:Ell2'
ID408602
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ell2
Ensembl Gene ENSMUSG00000001542
Gene Nameelongation factor RNA polymerase II 2
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03035
Quality Score
Status
Chromosome13
Chromosomal Location75706757-75772364 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 75763648 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Stop codon at position 351 (L351*)
Ref Sequence ENSEMBL: ENSMUSP00000001583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]
Predicted Effect probably null
Transcript: ENSMUST00000001583
AA Change: L351*
SMART Domains Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: L351*

DomainStartEndE-ValueType
Pfam:ELL 11 291 2.4e-108 PFAM
low complexity region 362 401 N/A INTRINSIC
low complexity region 451 476 N/A INTRINSIC
Pfam:Occludin_ELL 531 632 2e-35 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000104261
Predicted Effect probably benign
Transcript: ENSMUST00000220572
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221979
Predicted Effect probably benign
Transcript: ENSMUST00000222194
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222564
Predicted Effect probably benign
Transcript: ENSMUST00000222853
Predicted Effect probably benign
Transcript: ENSMUST00000222892
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,627,593 L1004P probably damaging Het
Adgrf5 T C 17: 43,430,627 I385T possibly damaging Het
Alpk3 T C 7: 81,078,604 V494A probably benign Het
Camta2 C A 11: 70,671,509 E1021* probably null Het
Ccdc6 T A 10: 70,182,176 S334T probably benign Het
Cd84 T C 1: 171,852,034 V93A probably damaging Het
Ceacam20 T C 7: 19,977,908 probably null Het
Crip2 A C 12: 113,144,125 T103P probably benign Het
Cyp4f14 T A 17: 32,914,634 T83S probably benign Het
Dapk1 T A 13: 60,716,773 V127D probably damaging Het
Dnah7c A G 1: 46,524,117 E609G probably benign Het
Dscam T A 16: 96,819,970 I513F possibly damaging Het
Emcn G T 3: 137,372,851 probably null Het
Fdft1 A T 14: 63,163,389 C98* probably null Het
Fer1l4 A G 2: 156,022,606 S1663P possibly damaging Het
Flt4 C A 11: 49,645,897 Y1231* probably null Het
Gatb A G 3: 85,601,947 K139E probably damaging Het
Gm13212 C A 4: 145,622,232 Q80K possibly damaging Het
Gtf2a1 C A 12: 91,572,637 probably benign Het
Gtf3c2 A C 5: 31,166,014 V574G possibly damaging Het
Heatr1 T C 13: 12,413,219 probably benign Het
Homer2 T A 7: 81,624,278 T57S possibly damaging Het
Ice2 C A 9: 69,425,688 F825L probably benign Het
Lepr C A 4: 101,764,980 L370I probably damaging Het
Nalcn G A 14: 123,278,218 Q1724* probably null Het
Nufip1 A G 14: 76,115,818 D222G probably damaging Het
Olfr1289 T C 2: 111,483,823 V159A probably benign Het
Prl3b1 A G 13: 27,249,533 probably benign Het
Ptbp3 A T 4: 59,477,218 M393K probably benign Het
Ptgds T C 2: 25,469,610 T22A probably benign Het
Rapgef2 T A 3: 79,094,424 H282L probably damaging Het
Rars2 T C 4: 34,656,865 probably null Het
Rnf213 G A 11: 119,445,626 probably benign Het
Ros1 C A 10: 52,075,984 probably benign Het
Slx4ip A G 2: 137,067,703 D206G possibly damaging Het
Sprr1a T A 3: 92,484,577 D39V probably benign Het
Stab1 A G 14: 31,147,769 V1442A probably benign Het
Tbx3 C A 5: 119,683,096 probably benign Het
Ubl3 A G 5: 148,506,137 *118Q probably null Het
Vmn2r55 G A 7: 12,670,816 S220L probably benign Het
Vps36 A G 8: 22,218,415 K362E probably benign Het
Other mutations in Ell2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Ell2 APN 13 75756290 missense probably damaging 1.00
IGL01315:Ell2 APN 13 75762232 unclassified probably benign
IGL01446:Ell2 APN 13 75761991 missense probably benign 0.02
IGL02691:Ell2 APN 13 75756486 missense probably damaging 0.97
IGL02963:Ell2 APN 13 75769643 missense possibly damaging 0.48
enhancement UTSW 13 75770735 missense probably damaging 1.00
stilts UTSW 13 75763986 nonsense probably null
PIT4469001:Ell2 UTSW 13 75761892 missense probably damaging 0.99
R0123:Ell2 UTSW 13 75762140 splice site probably benign
R0321:Ell2 UTSW 13 75761888 missense probably damaging 1.00
R0594:Ell2 UTSW 13 75749993 missense probably damaging 1.00
R0892:Ell2 UTSW 13 75763639 missense probably damaging 0.97
R1078:Ell2 UTSW 13 75746419 splice site probably benign
R1696:Ell2 UTSW 13 75769558 missense probably damaging 1.00
R2325:Ell2 UTSW 13 75769626 missense probably damaging 1.00
R2886:Ell2 UTSW 13 75763785 missense probably damaging 1.00
R3760:Ell2 UTSW 13 75762162 missense probably benign 0.37
R4206:Ell2 UTSW 13 75761948 missense probably damaging 1.00
R4632:Ell2 UTSW 13 75769574 missense possibly damaging 0.84
R5068:Ell2 UTSW 13 75763618 missense probably benign 0.00
R6980:Ell2 UTSW 13 75756376 missense probably null
R6983:Ell2 UTSW 13 75761887 missense probably damaging 1.00
R6984:Ell2 UTSW 13 75761887 missense probably damaging 1.00
R6986:Ell2 UTSW 13 75761887 missense probably damaging 1.00
R7073:Ell2 UTSW 13 75761887 missense probably damaging 1.00
R7074:Ell2 UTSW 13 75761887 missense probably damaging 1.00
R7473:Ell2 UTSW 13 75750035 missense probably damaging 1.00
R7590:Ell2 UTSW 13 75770735 missense probably damaging 1.00
R7901:Ell2 UTSW 13 75763986 nonsense probably null
RF018:Ell2 UTSW 13 75763608 missense probably damaging 1.00
Z1088:Ell2 UTSW 13 75761873 critical splice acceptor site probably benign
Z1176:Ell2 UTSW 13 75756452 missense probably damaging 0.99
Z1176:Ell2 UTSW 13 75770689 missense probably damaging 1.00
Posted On2016-08-02