Incidental Mutation 'IGL01710:Ell3'
ID104763
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ell3
Ensembl Gene ENSMUSG00000027246
Gene Nameelongation factor RNA polymerase II-like 3
Synonyms
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL01710
Quality Score
Status
Chromosome2
Chromosomal Location121439010-121444278 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 121441512 bp
ZygosityHeterozygous
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]
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: 61,871,574 T48I probably damaging Het
Ccpg1 T C 9: 72,997,441 probably benign Het
Chkb G A 15: 89,426,640 Q379* probably null Het
Chst15 T A 7: 132,270,507 D15V probably benign Het
Cntn4 G A 6: 106,550,431 V425I possibly damaging Het
Cpa6 T A 1: 10,325,272 N390I probably damaging Het
Efhd2 A G 4: 141,860,561 F193S probably damaging Het
Ercc5 T G 1: 44,164,075 L291V probably damaging Het
Eva1c A G 16: 90,904,347 Y302C probably damaging Het
Fmo3 A C 1: 162,983,043 L26R probably damaging Het
Galntl6 T A 8: 58,535,968 D17V probably damaging Het
Gm6483 C T 8: 19,691,613 P55S probably damaging Het
Gstt2 A G 10: 75,833,745 probably benign Het
Hmcn2 T A 2: 31,343,102 L221Q probably damaging Het
Hoxa3 T C 6: 52,170,574 probably benign Het
Kctd12b T C X: 153,689,483 D70G probably damaging Het
Kdm7a T A 6: 39,175,386 E125D probably benign Het
Klk1b21 T A 7: 44,106,495 F249L probably benign Het
Mrpl41 T C 2: 24,974,417 D81G possibly damaging Het
Nomo1 T A 7: 46,038,556 L82Q probably damaging Het
Olfr482 G T 7: 108,095,242 F109L probably benign Het
Papolg A T 11: 23,864,026 S718T probably damaging Het
Pex6 A G 17: 46,725,326 probably benign Het
Pi4k2a T A 19: 42,104,979 L253Q probably damaging Het
Prdx6b T A 2: 80,293,146 F100I probably damaging Het
Prr36 G A 8: 4,215,243 P169L probably damaging Het
Ptgfrn T C 3: 101,073,088 E312G probably damaging Het
Rasgrf1 A G 9: 89,991,692 I685V probably benign Het
Setdb1 T C 3: 95,338,853 E586G probably damaging Het
Sez6l2 C A 7: 126,968,216 T841K probably damaging Het
Slc25a17 A T 15: 81,327,326 L163* probably null Het
Slc35f3 A T 8: 126,389,161 I276F probably benign Het
Tcerg1l T A 7: 138,395,060 K149N possibly damaging Het
Tex28 T A X: 74,152,333 K278* probably null Het
Tmprss9 A G 10: 80,897,959 probably benign Het
Tnfaip8l1 A G 17: 56,171,782 K24R probably benign Het
Trim36 T C 18: 46,188,388 probably benign Het
Uba1 C T X: 20,671,365 T274I possibly damaging Het
Ubr2 T C 17: 46,943,409 T1439A probably benign Het
Ubr4 A G 4: 139,418,461 D1523G possibly damaging Het
Uchl4 A T 9: 64,235,506 T90S probably benign Het
Other mutations in Ell3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00589:Ell3 APN 2 121440280 missense probably benign 0.02
IGL01348:Ell3 APN 2 121441796 missense probably damaging 1.00
K7371:Ell3 UTSW 2 121439488 missense probably damaging 1.00
R1443:Ell3 UTSW 2 121439465 missense probably damaging 1.00
R1880:Ell3 UTSW 2 121440311 missense probably benign 0.28
R6226:Ell3 UTSW 2 121441777 missense probably damaging 0.96
Posted On2014-01-21