Incidental Mutation 'IGL01446:Ell2'
ID84415
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 #IGL01446
Quality Score
Status
Chromosome13
Chromosomal Location75706757-75772364 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to T at 75761991 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 285 (L285F)
Ref Sequence ENSEMBL: ENSMUSP00000001583 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001583] [ENSMUST00000220572] [ENSMUST00000222194] [ENSMUST00000222853]
Predicted Effect probably benign
Transcript: ENSMUST00000001583
AA Change: L285F

PolyPhen 2 Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000001583
Gene: ENSMUSG00000001542
AA Change: L285F

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 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
AA Change: L153F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect unknown
Transcript: ENSMUST00000222892
AA Change: L145F
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,403,834 T3719A probably damaging Het
Acaca A G 11: 84,260,631 K785R probably damaging Het
Acsm3 G A 7: 119,778,454 V401M probably damaging Het
Aff4 G T 11: 53,415,469 R1146L probably damaging Het
Alms1 C A 6: 85,696,701 P3562T probably damaging Het
Arsj A G 3: 126,438,814 E403G probably benign Het
Baiap2l1 C T 5: 144,275,913 V431I probably benign Het
Cecr2 T A 6: 120,758,599 M904K probably benign Het
Cenpe A T 3: 135,237,539 T775S probably benign Het
Dennd1b G A 1: 139,023,110 E30K possibly damaging Het
Dnah5 A G 15: 28,326,669 D2008G probably damaging Het
Dnm2 T C 9: 21,481,376 V460A probably damaging Het
Erg A G 16: 95,361,282 S322P probably damaging Het
Extl3 A G 14: 65,077,080 F218L probably benign Het
Fam84a A T 12: 14,149,928 I266N probably damaging Het
Fzd9 T C 5: 135,250,566 E155G probably damaging Het
Ghr A G 15: 3,333,355 W212R probably damaging Het
Gulp1 A G 1: 44,744,548 probably benign Het
Hdgfl2 C T 17: 56,097,281 R332C possibly damaging Het
Nsd2 T C 5: 33,861,186 probably benign Het
Olfr1259 A G 2: 89,943,938 F59S probably damaging Het
Olfr1441 T C 19: 12,422,801 I164T possibly damaging Het
Olfr1480 C T 19: 13,530,252 T237I probably benign Het
Phf11b A C 14: 59,341,291 S9A probably benign Het
Psd4 T C 2: 24,405,395 S854P probably damaging Het
Reln C T 5: 21,969,317 D1963N probably damaging Het
Rpe65 T A 3: 159,600,405 probably benign Het
Sdccag8 T C 1: 176,845,245 S235P probably damaging Het
Sgip1 G T 4: 102,928,913 probably null Het
Skint5 G A 4: 113,942,822 P36L probably damaging Het
Slc26a3 G T 12: 31,452,491 probably benign Het
Snx13 T A 12: 35,124,480 C669* probably null Het
Svil A T 18: 5,062,385 T902S probably damaging Het
Syne2 T C 12: 76,041,375 S4989P probably damaging Het
Ttn G A 2: 76,809,939 T13775M probably damaging Het
Ubr4 T C 4: 139,438,040 probably benign Het
Ush1c C T 7: 46,208,956 R636H possibly damaging Het
Usp17lc A T 7: 103,418,444 R315S probably benign Het
Vmn1r236 T A 17: 21,286,656 V12D probably benign Het
Wsb2 T G 5: 117,371,164 I170S probably damaging Het
Zfp800 G A 6: 28,242,984 L661F possibly damaging 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
IGL02691:Ell2 APN 13 75756486 missense probably damaging 0.97
IGL02963:Ell2 APN 13 75769643 missense possibly damaging 0.48
IGL03035:Ell2 APN 13 75763648 nonsense probably null
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 On2013-11-11