Incidental Mutation 'IGL01774:Eloc'
ID154048
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 #IGL01774
Quality Score
Status
Chromosome1
Chromosomal Location16641725-16657042 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 16645789 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 37 (D37E)
Ref Sequence ENSEMBL: ENSMUSP00000139480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115352] [ENSMUST00000185393] [ENSMUST00000185771] [ENSMUST00000186701] [ENSMUST00000186948] [ENSMUST00000187910] [ENSMUST00000188641]
Predicted Effect probably benign
Transcript: ENSMUST00000115352
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000111009
Gene: ENSMUSG00000079658
AA Change: D15E

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185393
AA Change: D15E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000140161
Gene: ENSMUSG00000079658
AA Change: D15E

DomainStartEndE-ValueType
Skp1 16 95 2.6e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000185771
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139675
Gene: ENSMUSG00000079658
AA Change: D15E

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000186541
Predicted Effect probably benign
Transcript: ENSMUST00000186701
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000139741
Gene: ENSMUSG00000079658
AA Change: D15E

DomainStartEndE-ValueType
Pfam:Skp1_POZ 17 51 1.1e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186948
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140962
Gene: ENSMUSG00000079658
AA Change: D15E

DomainStartEndE-ValueType
Skp1 16 112 2.41e-36 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000187910
AA Change: D37E

PolyPhen 2 Score 0.056 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000139480
Gene: ENSMUSG00000079658
AA Change: D37E

DomainStartEndE-ValueType
low complexity region 2 27 N/A INTRINSIC
Skp1 38 134 1.2e-38 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000188641
AA Change: D15E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000140422
Gene: ENSMUSG00000079658
AA Change: D15E

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 A G 7: 120,477,835 D708G probably damaging Het
Abca16 T C 7: 120,421,801 probably benign Het
Abcc5 T C 16: 20,378,457 D674G probably damaging Het
Abr A G 11: 76,464,299 probably benign Het
Arfgef3 A G 10: 18,743,615 I4T possibly damaging Het
Btla A G 16: 45,250,548 N290S possibly damaging Het
Catip C A 1: 74,368,483 R325S probably damaging Het
Cep120 A G 18: 53,706,830 L786P possibly damaging Het
Cnot8 A G 11: 58,115,307 I221V probably benign Het
Fabp12 A C 3: 10,247,694 N89K probably benign Het
Ficd G T 5: 113,739,012 R416L probably damaging Het
Frmd3 T C 4: 74,187,838 Y574H probably damaging Het
Frmd4a T C 2: 4,535,236 probably benign Het
Gatc G A 5: 115,341,017 Q45* probably null Het
Gm5414 T C 15: 101,626,975 D225G probably benign Het
Itpkc G T 7: 27,212,370 A592E probably benign Het
Kl G T 5: 150,988,483 V566L probably benign Het
Lpin1 T A 12: 16,558,476 D545V probably damaging Het
Mtcl1 T C 17: 66,385,885 Y483C probably damaging Het
Neb C T 2: 52,222,970 W67* probably null Het
Nrarp T C 2: 25,181,286 V59A possibly damaging Het
Nuf2 G A 1: 169,506,072 T345M probably benign Het
Olfr659 T C 7: 104,670,942 I80T probably benign Het
Pacs2 T A 12: 113,056,842 H278Q probably benign Het
Pot1a T C 6: 25,753,277 K420R probably benign Het
Rag2 A G 2: 101,630,047 Y234C probably damaging Het
Ralgds C T 2: 28,550,542 Q88* probably null Het
Rictor T C 15: 6,769,777 S365P probably damaging Het
Slco1a1 G A 6: 141,925,613 Q276* probably null Het
Tas2r134 C T 2: 51,628,148 T213I probably benign Het
Tecpr1 A G 5: 144,211,540 I349T probably damaging Het
Tnxb T C 17: 34,688,839 S1286P probably damaging Het
Trafd1 A G 5: 121,375,050 V375A possibly damaging Het
Vmn2r110 T A 17: 20,583,627 I229L probably benign Het
Vnn1 T C 10: 23,900,710 Y320H probably benign Het
Zfp990 T C 4: 145,536,948 V172A probably benign Het
Other mutations in Eloc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01620:Eloc APN 1 16643278 utr 3 prime probably benign
ANU74:Eloc UTSW 1 16643350 missense possibly damaging 0.82
R5393:Eloc UTSW 1 16647968 utr 5 prime probably benign
Posted On2014-02-04