Incidental Mutation 'IGL01710:Ell3'
ID 104763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ell3
Ensembl Gene ENSMUSG00000027246
Gene Name elongation factor RNA polymerase II-like 3
Synonyms
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01710
Quality Score
Status
Chromosome 2
Chromosomal Location 121269508-121273082 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 121271993 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 128 (H128R)
Ref Sequence ENSEMBL: ENSMUSP00000112133 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028679] [ENSMUST00000028683] [ENSMUST00000116432]
AlphaFold Q80VR2
Predicted Effect probably damaging
Transcript: ENSMUST00000028679
AA Change: H128R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000028679
Gene: ENSMUSG00000027246
AA Change: H128R

DomainStartEndE-ValueType
Pfam:ELL 15 123 2e-13 PFAM
low complexity region 240 261 N/A INTRINSIC
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 3.8e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000028683
SMART Domains Protein: ENSMUSP00000028683
Gene: ENSMUSG00000027248

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Thioredoxin 26 131 5.2e-36 PFAM
Pfam:Thioredoxin_6 160 355 2e-29 PFAM
Pfam:Thioredoxin 377 483 9.5e-33 PFAM
low complexity region 487 503 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000116432
AA Change: H128R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112133
Gene: ENSMUSG00000027246
AA Change: H128R

DomainStartEndE-ValueType
Pfam:ELL 5 247 1.3e-43 PFAM
low complexity region 269 281 N/A INTRINSIC
Pfam:Occludin_ELL 289 390 1.8e-35 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140752
SMART Domains Protein: ENSMUSP00000116676
Gene: ENSMUSG00000046110

DomainStartEndE-ValueType
Pfam:Serinc 2 78 7.3e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153866
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ablim3 G A 18: 62,004,645 (GRCm39) T48I probably damaging Het
Ccpg1 T C 9: 72,904,723 (GRCm39) probably benign Het
Chkb G A 15: 89,310,843 (GRCm39) Q379* probably null Het
Chst15 T A 7: 131,872,236 (GRCm39) D15V probably benign Het
Cntn4 G A 6: 106,527,392 (GRCm39) V425I possibly damaging Het
Cpa6 T A 1: 10,395,497 (GRCm39) N390I probably damaging Het
Efhd2 A G 4: 141,587,872 (GRCm39) F193S probably damaging Het
Ercc5 T G 1: 44,203,235 (GRCm39) L291V probably damaging Het
Eva1c A G 16: 90,701,235 (GRCm39) Y302C probably damaging Het
Fmo3 A C 1: 162,810,612 (GRCm39) L26R probably damaging Het
Galntl6 T A 8: 58,989,002 (GRCm39) D17V probably damaging Het
Gm6483 C T 8: 19,741,629 (GRCm39) P55S probably damaging Het
Gstt2 A G 10: 75,669,579 (GRCm39) probably benign Het
Hmcn2 T A 2: 31,233,114 (GRCm39) L221Q probably damaging Het
Hoxa3 T C 6: 52,147,554 (GRCm39) probably benign Het
Kctd12b T C X: 152,472,479 (GRCm39) D70G probably damaging Het
Kdm7a T A 6: 39,152,320 (GRCm39) E125D probably benign Het
Klk1b21 T A 7: 43,755,919 (GRCm39) F249L probably benign Het
Mrpl41 T C 2: 24,864,429 (GRCm39) D81G possibly damaging Het
Nomo1 T A 7: 45,687,980 (GRCm39) L82Q probably damaging Het
Or5p58 G T 7: 107,694,449 (GRCm39) F109L probably benign Het
Papolg A T 11: 23,814,026 (GRCm39) S718T probably damaging Het
Pex6 A G 17: 47,036,252 (GRCm39) probably benign Het
Pi4k2a T A 19: 42,093,418 (GRCm39) L253Q probably damaging Het
Prdx6b T A 2: 80,123,490 (GRCm39) F100I probably damaging Het
Prr36 G A 8: 4,265,243 (GRCm39) P169L probably damaging Het
Ptgfrn T C 3: 100,980,404 (GRCm39) E312G probably damaging Het
Rasgrf1 A G 9: 89,873,745 (GRCm39) I685V probably benign Het
Setdb1 T C 3: 95,246,164 (GRCm39) E586G probably damaging Het
Sez6l2 C A 7: 126,567,388 (GRCm39) T841K probably damaging Het
Slc25a17 A T 15: 81,211,527 (GRCm39) L163* probably null Het
Slc35f3 A T 8: 127,115,900 (GRCm39) I276F probably benign Het
Tcerg1l T A 7: 137,996,789 (GRCm39) K149N possibly damaging Het
Tex28 T A X: 73,195,939 (GRCm39) K278* probably null Het
Tmprss9 A G 10: 80,733,793 (GRCm39) probably benign Het
Tnfaip8l1 A G 17: 56,478,782 (GRCm39) K24R probably benign Het
Trim36 T C 18: 46,321,455 (GRCm39) probably benign Het
Uba1 C T X: 20,537,604 (GRCm39) T274I possibly damaging Het
Ubr2 T C 17: 47,254,335 (GRCm39) T1439A probably benign Het
Ubr4 A G 4: 139,145,772 (GRCm39) D1523G possibly damaging Het
Uchl4 A T 9: 64,142,788 (GRCm39) T90S probably benign Het
Other mutations in Ell3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ell3 APN 2 121,270,761 (GRCm39) missense probably benign 0.02
IGL01348:Ell3 APN 2 121,272,277 (GRCm39) missense probably damaging 1.00
K7371:Ell3 UTSW 2 121,269,969 (GRCm39) missense probably damaging 1.00
R1443:Ell3 UTSW 2 121,269,946 (GRCm39) missense probably damaging 1.00
R1880:Ell3 UTSW 2 121,270,792 (GRCm39) missense probably benign 0.28
R6226:Ell3 UTSW 2 121,272,258 (GRCm39) missense probably damaging 0.96
R7417:Ell3 UTSW 2 121,270,891 (GRCm39) missense probably benign 0.45
R7733:Ell3 UTSW 2 121,273,001 (GRCm39) missense possibly damaging 0.90
R7798:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R7799:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8097:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8098:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8099:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
R8100:Ell3 UTSW 2 121,269,937 (GRCm39) utr 3 prime probably benign
Posted On 2014-01-21