Incidental Mutation 'IGL01620:Eloc'
ID 92557
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Eloc
Ensembl Gene ENSMUSG00000079658
Gene Name elongin C
Synonyms 2610301I15Rik, Tceb1
Accession Numbers
Essential gene? Probably essential (E-score: 0.952) question?
Stock # IGL01620
Quality Score
Status
Chromosome 1
Chromosomal Location 16711949-16727266 bp(-) (GRCm39)
Type of Mutation utr 3 prime
DNA Base Change (assembly) T to A at 16713502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000140422 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115352] [ENSMUST00000185393] [ENSMUST00000185771] [ENSMUST00000186701] [ENSMUST00000186948] [ENSMUST00000187910] [ENSMUST00000188641]
AlphaFold P83940
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 noncoding transcript
Transcript: ENSMUST00000188987
Predicted Effect noncoding transcript
Transcript: ENSMUST00000191535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190986
Predicted Effect probably benign
Transcript: ENSMUST00000188641
SMART Domains Protein: ENSMUSP00000140422
Gene: ENSMUSG00000079658

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
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: 102,248,385 (GRCm39) V277D probably damaging Het
Akap9 T A 5: 4,010,218 (GRCm39) V325D probably benign Het
Ambra1 A G 2: 91,741,757 (GRCm39) probably null Het
Ano9 A G 7: 140,690,352 (GRCm39) L94P probably damaging Het
Atad3a G T 4: 155,830,535 (GRCm39) T521K probably damaging Het
Bckdk A G 7: 127,504,948 (GRCm39) K126E possibly damaging Het
Bdp1 A T 13: 100,220,713 (GRCm39) probably benign Het
Btbd17 T C 11: 114,686,599 (GRCm39) T26A probably benign Het
Cadps2 G A 6: 23,587,461 (GRCm39) S314L probably benign Het
Ccl8 A T 11: 82,007,435 (GRCm39) Q90L probably damaging Het
Chit1 T C 1: 134,078,257 (GRCm39) V355A probably damaging Het
Col17a1 A G 19: 47,656,978 (GRCm39) I555T possibly damaging Het
Dmwd T A 7: 18,815,159 (GRCm39) probably null Het
Dtna T C 18: 23,758,144 (GRCm39) I483T probably damaging Het
Emc7 T A 2: 112,295,119 (GRCm39) L177H probably damaging Het
Emsy T A 7: 98,275,831 (GRCm39) K352I probably damaging Het
Ermn T C 2: 57,942,502 (GRCm39) E76G probably benign Het
Flot1 A T 17: 36,140,763 (GRCm39) E203V possibly damaging Het
Hsd11b2 A G 8: 106,249,529 (GRCm39) K266R probably benign Het
Iqck A T 7: 118,476,901 (GRCm39) K154M probably damaging Het
Itgb5 T A 16: 33,740,168 (GRCm39) V426E probably damaging Het
Kash5 T C 7: 44,839,384 (GRCm39) D359G probably damaging Het
Kif13a T C 13: 47,018,296 (GRCm39) K53R probably benign Het
Klhl2 A T 8: 65,232,772 (GRCm39) H168Q probably damaging Het
Lpcat2b T C 5: 107,581,759 (GRCm39) Y363H probably damaging Het
Lrp6 A T 6: 134,488,225 (GRCm39) N290K probably damaging Het
Map2k3 T C 11: 60,840,873 (GRCm39) F301L possibly damaging Het
Mns1 A G 9: 72,364,195 (GRCm39) probably benign Het
Nos1 A G 5: 118,043,374 (GRCm39) probably null Het
Or1j17 T A 2: 36,578,550 (GRCm39) C179S probably damaging Het
Or52h7 T A 7: 104,214,220 (GRCm39) V264D probably damaging Het
Pask A T 1: 93,237,844 (GRCm39) H1374Q possibly damaging Het
Pik3r1 G A 13: 101,822,728 (GRCm39) A658V probably damaging Het
Ppp2r2a A T 14: 67,307,726 (GRCm39) F14I probably damaging Het
Ptprc C T 1: 137,996,148 (GRCm39) E904K possibly damaging Het
Rab11fip4 G T 11: 79,582,705 (GRCm39) D591Y possibly damaging Het
Rab3gap2 A G 1: 184,936,523 (GRCm39) T29A probably benign Het
Rgs19 A G 2: 181,331,381 (GRCm39) V84A possibly damaging Het
Shisa6 T G 11: 66,108,705 (GRCm39) M391L probably benign Het
Sipa1l1 G A 12: 82,469,263 (GRCm39) G1254D probably damaging Het
Slfn8 A T 11: 82,895,059 (GRCm39) Y358* probably null Het
Taf3 G T 2: 9,957,472 (GRCm39) R232S probably benign Het
Terb2 T A 2: 122,035,338 (GRCm39) H186Q possibly damaging Het
Trav13n-4 T C 14: 53,601,473 (GRCm39) S81P probably damaging Het
Trim30d G T 7: 104,121,333 (GRCm39) P321T possibly damaging Het
Tyrp1 G T 4: 80,763,039 (GRCm39) G309* probably null Het
Vps13d C A 4: 144,821,437 (GRCm39) G2979V possibly damaging Het
Other mutations in Eloc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01774:Eloc APN 1 16,716,013 (GRCm39) missense probably benign 0.06
ANU74:Eloc UTSW 1 16,713,574 (GRCm39) missense possibly damaging 0.82
R5393:Eloc UTSW 1 16,718,192 (GRCm39) utr 5 prime probably benign
Posted On 2013-12-09