Incidental Mutation 'IGL02185:Eloa'
ID283607
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eloa
Ensembl Gene ENSMUSG00000028668
Gene Nameelongin A
SynonymsTceb3
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02185
Quality Score
Status
Chromosome4
Chromosomal Location136003368-136021763 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) A to G at 136012979 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000030427 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030427]
Predicted Effect probably benign
Transcript: ENSMUST00000030427
SMART Domains Protein: ENSMUSP00000030427
Gene: ENSMUSG00000028668

DomainStartEndE-ValueType
TFS2N 7 78 2.73e-26 SMART
low complexity region 162 174 N/A INTRINSIC
low complexity region 179 185 N/A INTRINSIC
low complexity region 262 277 N/A INTRINSIC
low complexity region 414 425 N/A INTRINSIC
low complexity region 479 490 N/A INTRINSIC
Pfam:Elongin_A 565 663 7.2e-31 PFAM
low complexity region 704 719 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142289
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the protein elongin A, which is a subunit of the transcription factor B (SIII) complex. The SIII complex is composed of elongins A/A2, B and C. It activates elongation by RNA polymerase II by suppressing transient pausing of the polymerase at many sites within transcription units. Elongin A functions as the transcriptionally active component of the SIII complex, whereas elongins B and C are regulatory subunits. Elongin A2 is specifically expressed in the testis, and capable of forming a stable complex with elongins B and C. The von Hippel-Lindau tumor suppressor protein binds to elongins B and C, and thereby inhibits transcription elongation. [provided by RefSeq, Jul 2008]
PHENOTYPE: Embryos homozygous for a knock-out allele are severely growth retarded, exhibit a wide range of developmental anomalies and die between E10.5 and E12.5, most likely due to massive apoptosis while mutant MEFs show increased apoptosis and senescence-like growth defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3110043O21Rik A T 4: 35,197,046 W340R probably damaging Het
Adh5 A G 3: 138,451,054 D167G probably benign Het
Cand2 G A 6: 115,789,510 A359T probably benign Het
Cnnm2 T C 19: 46,762,995 V408A probably benign Het
Ern2 T C 7: 122,173,375 probably benign Het
Hs6st3 A G 14: 119,868,884 probably null Het
Hydin A T 8: 110,506,476 I1736F possibly damaging Het
Ifrd2 A T 9: 107,591,091 I253F probably benign Het
Kctd7 G A 5: 130,152,458 V241I possibly damaging Het
Lcp1 T C 14: 75,229,300 F616L possibly damaging Het
Lyst C T 13: 13,661,093 Q1787* probably null Het
Mapkbp1 A T 2: 120,014,663 T342S possibly damaging Het
Mcph1 A G 8: 18,668,990 probably benign Het
Mctp2 T C 7: 72,080,823 H868R probably benign Het
Mefv T C 16: 3,715,850 T186A probably benign Het
Nol9 T A 4: 152,057,911 I666N probably damaging Het
Olfr145 A C 9: 37,898,235 Y277S probably damaging Het
Olfr574 T A 7: 102,948,514 N16K probably damaging Het
Olfr775 G T 10: 129,251,035 C167F possibly damaging Het
Pum2 T C 12: 8,748,955 probably null Het
Rpgrip1 A C 14: 52,112,228 K24N possibly damaging Het
Ryr3 T A 2: 112,967,203 T122S probably damaging Het
Sfn A G 4: 133,601,325 S149P probably benign Het
Slc27a2 T A 2: 126,567,816 V306D probably damaging Het
Slc35a1 A G 4: 34,675,584 V81A probably benign Het
Trav21-dv12 A T 14: 53,876,498 D25V probably benign Het
Ttn T C 2: 76,768,534 H11018R possibly damaging Het
Txn1 A T 4: 57,950,883 Y49N probably benign Het
Ulk2 C T 11: 61,782,060 A903T probably damaging Het
Vmn2r77 G A 7: 86,795,152 M4I unknown Het
Vmn2r85 G T 10: 130,418,692 L708I probably benign Het
Vmn2r9 G A 5: 108,843,636 L620F probably damaging Het
Vrk2 T A 11: 26,535,638 R117* probably null Het
Xpo6 A T 7: 126,113,808 probably benign Het
Zdhhc14 C A 17: 5,752,882 T420K probably benign Het
Zfp334 G T 2: 165,386,949 probably benign Het
Zfp958 T A 8: 4,628,990 C338* probably null Het
Other mutations in Eloa
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Eloa APN 4 136010765 missense probably benign 0.21
IGL00839:Eloa APN 4 136011359 missense probably damaging 1.00
IGL01349:Eloa APN 4 136014447 missense probably benign 0.00
IGL01475:Eloa APN 4 136010920 missense probably benign 0.11
IGL03151:Eloa APN 4 136010421 nonsense probably null
R1737:Eloa UTSW 4 136010770 missense probably benign 0.43
R2995:Eloa UTSW 4 136010906 missense probably benign 0.01
R4414:Eloa UTSW 4 136011242 missense possibly damaging 0.49
R4414:Eloa UTSW 4 136011265 missense probably benign 0.14
R4704:Eloa UTSW 4 136011214 missense probably benign 0.00
R5357:Eloa UTSW 4 136009248 missense probably benign 0.41
R5437:Eloa UTSW 4 136012885 missense probably damaging 1.00
R6334:Eloa UTSW 4 136009822 missense probably damaging 0.96
R6897:Eloa UTSW 4 136012909 missense possibly damaging 0.80
R7124:Eloa UTSW 4 136009141 missense probably damaging 1.00
Posted On2015-04-16