Incidental Mutation 'IGL01620:Eloc'
ID92557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eloc
Ensembl Gene ENSMUSG00000079658
Gene Nameelongin C
SynonymsTceb1, 2610301I15Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.952) question?
Stock #IGL01620
Quality Score
Status
Chromosome1
Chromosomal Location16641725-16657042 bp(-) (GRCm38)
Type of Mutationutr 3 prime
DNA Base Change (assembly) T to A at 16643278 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115352] [ENSMUST00000185393] [ENSMUST00000185771] [ENSMUST00000186701] [ENSMUST00000186948] [ENSMUST00000187910] [ENSMUST00000188641]
Predicted Effect probably benign
Transcript: ENSMUST00000115352
SMART Domains Protein: ENSMUSP00000111009
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185393
SMART Domains Protein: ENSMUSP00000140161
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 95 2.6e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185771
SMART Domains Protein: ENSMUSP00000139675
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186541
Predicted Effect probably benign
Transcript: ENSMUST00000186701
SMART Domains Protein: ENSMUSP00000139741
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Pfam:Skp1_POZ 17 51 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186948
SMART Domains Protein: ENSMUSP00000140962
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187910
SMART Domains Protein: ENSMUSP00000139480
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Skp1 38 134 1.2e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188641
SMART Domains Protein: ENSMUSP00000140422
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000188987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190986
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191535
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 C, 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. Multiple alternatively spliced transcript variants encoding two distinct isoforms have been identified. [provided by RefSeq, Mar 2011]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aaas A T 15: 102,339,950 V277D probably damaging Het
Akap9 T A 5: 3,960,218 V325D probably benign Het
Ambra1 A G 2: 91,911,412 probably null Het
Ano9 A G 7: 141,110,439 L94P probably damaging Het
Atad3a G T 4: 155,746,078 T521K probably damaging Het
Bckdk A G 7: 127,905,776 K126E possibly damaging Het
Bdp1 A T 13: 100,084,205 probably benign Het
Btbd17 T C 11: 114,795,773 T26A probably benign Het
Cadps2 G A 6: 23,587,462 S314L probably benign Het
Ccdc155 T C 7: 45,189,960 D359G probably damaging Het
Ccl8 A T 11: 82,116,609 Q90L probably damaging Het
Chit1 T C 1: 134,150,519 V355A probably damaging Het
Col17a1 A G 19: 47,668,539 I555T possibly damaging Het
Dmwd T A 7: 19,081,234 probably null Het
Dtna T C 18: 23,625,087 I483T probably damaging Het
Emc7 T A 2: 112,464,774 L177H probably damaging Het
Emsy T A 7: 98,626,624 K352I probably damaging Het
Ermn T C 2: 58,052,490 E76G probably benign Het
Flot1 A T 17: 35,829,871 E203V possibly damaging Het
Hsd11b2 A G 8: 105,522,897 K266R probably benign Het
Iqck A T 7: 118,877,678 K154M probably damaging Het
Itgb5 T A 16: 33,919,798 V426E probably damaging Het
Kif13a T C 13: 46,864,820 K53R probably benign Het
Klhl2 A T 8: 64,779,738 H168Q probably damaging Het
Lpcat2b T C 5: 107,433,893 Y363H probably damaging Het
Lrp6 A T 6: 134,511,262 N290K probably damaging Het
Map2k3 T C 11: 60,950,047 F301L possibly damaging Het
Mns1 A G 9: 72,456,913 probably benign Het
Nos1 A G 5: 117,905,309 probably null Het
Olfr346 T A 2: 36,688,538 C179S probably damaging Het
Olfr652 T A 7: 104,565,013 V264D probably damaging Het
Pask A T 1: 93,310,122 H1374Q possibly damaging Het
Pik3r1 G A 13: 101,686,220 A658V probably damaging Het
Ppp2r2a A T 14: 67,070,277 F14I probably damaging Het
Ptprc C T 1: 138,068,410 E904K possibly damaging Het
Rab11fip4 G T 11: 79,691,879 D591Y possibly damaging Het
Rab3gap2 A G 1: 185,204,326 T29A probably benign Het
Rgs19 A G 2: 181,689,588 V84A possibly damaging Het
Shisa6 T G 11: 66,217,879 M391L probably benign Het
Sipa1l1 G A 12: 82,422,489 G1254D probably damaging Het
Slfn8 A T 11: 83,004,233 Y358* probably null Het
Taf3 G T 2: 9,952,661 R232S probably benign Het
Terb2 T A 2: 122,204,857 H186Q possibly damaging Het
Trav13n-4 T C 14: 53,364,016 S81P probably damaging Het
Trim30d G T 7: 104,472,126 P321T possibly damaging Het
Tyrp1 G T 4: 80,844,802 G309* probably null Het
Vps13d C A 4: 145,094,867 G2979V possibly damaging Het
Other mutations in Eloc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Eloc APN 1 16645789 missense probably benign 0.06
ANU74:Eloc UTSW 1 16643350 missense possibly damaging 0.82
R5393:Eloc UTSW 1 16647968 utr 5 prime probably benign
Posted On2013-12-09