Incidental Mutation 'IGL02930:Elobl'
ID 364069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elobl
Ensembl Gene ENSMUSG00000057534
Gene Name elongin B-like
Synonyms Tceb2l, Gm15698
Accession Numbers
Essential gene? Not available question?
Stock # IGL02930
Quality Score
Status
Chromosome 11
Chromosomal Location 88855484-88857757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 88856012 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Alanine at position 17 (D17A)
Ref Sequence ENSEMBL: ENSMUSP00000113104 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061938] [ENSMUST00000082339] [ENSMUST00000121228]
AlphaFold A6PWE0
Predicted Effect possibly damaging
Transcript: ENSMUST00000061938
AA Change: D17A

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000103534
Gene: ENSMUSG00000057534
AA Change: D17A

DomainStartEndE-ValueType
UBQ 1 80 3.24e-4 SMART
low complexity region 95 103 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000082339
AA Change: D25A

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000080951
Gene: ENSMUSG00000057534
AA Change: D25A

DomainStartEndE-ValueType
UBQ 9 88 3.24e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121228
AA Change: D17A

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000113104
Gene: ENSMUSG00000057534
AA Change: D17A

DomainStartEndE-ValueType
UBQ 1 80 3.24e-4 SMART
low complexity region 95 103 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,328,226 (GRCm39) N3433S possibly damaging Het
Actl9 T C 17: 33,653,073 (GRCm39) S378P probably damaging Het
Aldh6a1 C A 12: 84,480,756 (GRCm39) L426F possibly damaging Het
Ankef1 T C 2: 136,392,245 (GRCm39) I478T possibly damaging Het
Cabs1 A G 5: 88,127,745 (GRCm39) D132G probably damaging Het
Ccdc39 T C 3: 33,879,643 (GRCm39) E475G probably damaging Het
Cmtm2b A C 8: 105,056,402 (GRCm39) M104L probably benign Het
Cops2 T C 2: 125,674,109 (GRCm39) probably benign Het
Dnajc4 C A 19: 6,966,801 (GRCm39) V176F possibly damaging Het
Eepd1 A G 9: 25,394,536 (GRCm39) N267D probably damaging Het
Erich6 G A 3: 58,529,775 (GRCm39) probably benign Het
Flna G A X: 73,267,506 (GRCm39) R2548C probably damaging Het
Gm6878 T G 14: 67,548,439 (GRCm39) probably benign Het
Gpc1 G T 1: 92,785,021 (GRCm39) E355* probably null Het
Islr C T 9: 58,065,483 (GRCm39) probably benign Het
Mex3a A T 3: 88,443,532 (GRCm39) I203L probably benign Het
Or5p58 A T 7: 107,694,621 (GRCm39) I52N probably damaging Het
Or6c88 T C 10: 129,407,184 (GRCm39) I220T probably damaging Het
Or8g24 G T 9: 38,989,308 (GRCm39) H244Q probably damaging Het
Prokr2 T C 2: 132,215,394 (GRCm39) S195G probably benign Het
Pyroxd1 A T 6: 142,304,778 (GRCm39) D335V probably damaging Het
Rps6kl1 T C 12: 85,196,548 (GRCm39) T39A probably benign Het
Rusc2 G A 4: 43,416,376 (GRCm39) A561T probably damaging Het
Sel1l3 A C 5: 53,280,559 (GRCm39) V937G possibly damaging Het
Sh3pxd2b A G 11: 32,367,161 (GRCm39) T382A possibly damaging Het
Tbx21 A G 11: 96,990,865 (GRCm39) I271T probably damaging Het
Timeless T C 10: 128,083,060 (GRCm39) V632A probably benign Het
Tle3 A G 9: 61,301,981 (GRCm39) N67S possibly damaging Het
Tln2 G A 9: 67,300,944 (GRCm39) R95* probably null Het
Trim24 A G 6: 37,928,380 (GRCm39) probably benign Het
Uggt1 A T 1: 36,196,537 (GRCm39) D1253E probably benign Het
Vmn1r8 A G 6: 57,013,579 (GRCm39) K210R probably benign Het
Other mutations in Elobl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6689:Elobl UTSW 11 88,855,919 (GRCm39) missense possibly damaging 0.73
R8076:Elobl UTSW 11 88,855,796 (GRCm39) missense possibly damaging 0.55
Posted On 2015-12-18