Incidental Mutation 'IGL02930:Elobl'
ID364069
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Elobl
Ensembl Gene ENSMUSG00000057534
Gene Nameelongin B-like
SynonymsGm15698, Tceb2l
Accession Numbers
Is this an essential gene? Not available question?
Stock #IGL02930
Quality Score
Status
Chromosome11
Chromosomal Location88964658-88966931 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to G at 88965186 bp
ZygosityHeterozygous
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]
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: 9,378,226 N3433S possibly damaging Het
Actl9 T C 17: 33,434,099 S378P probably damaging Het
Aldh6a1 C A 12: 84,433,982 L426F possibly damaging Het
Ankef1 T C 2: 136,550,325 I478T possibly damaging Het
Cabs1 A G 5: 87,979,886 D132G probably damaging Het
Ccdc39 T C 3: 33,825,494 E475G probably damaging Het
Cmtm2b A C 8: 104,329,770 M104L probably benign Het
Cops2 T C 2: 125,832,189 probably benign Het
Dnajc4 C A 19: 6,989,433 V176F possibly damaging Het
Eepd1 A G 9: 25,483,240 N267D probably damaging Het
Erich6 G A 3: 58,622,354 probably benign Het
Flna G A X: 74,223,900 R2548C probably damaging Het
Gm6878 T G 14: 67,310,990 probably benign Het
Gpc1 G T 1: 92,857,299 E355* probably null Het
Islr C T 9: 58,158,200 probably benign Het
Mex3a A T 3: 88,536,225 I203L probably benign Het
Olfr482 A T 7: 108,095,414 I52N probably damaging Het
Olfr794 T C 10: 129,571,315 I220T probably damaging Het
Olfr938 G T 9: 39,078,012 H244Q probably damaging Het
Prokr2 T C 2: 132,373,474 S195G probably benign Het
Pyroxd1 A T 6: 142,359,052 D335V probably damaging Het
Rps6kl1 T C 12: 85,149,774 T39A probably benign Het
Rusc2 G A 4: 43,416,376 A561T probably damaging Het
Sel1l3 A C 5: 53,123,217 V937G possibly damaging Het
Sh3pxd2b A G 11: 32,417,161 T382A possibly damaging Het
Tbx21 A G 11: 97,100,039 I271T probably damaging Het
Timeless T C 10: 128,247,191 V632A probably benign Het
Tle3 A G 9: 61,394,699 N67S possibly damaging Het
Tln2 G A 9: 67,393,662 R95* probably null Het
Trim24 A G 6: 37,951,445 probably benign Het
Uggt1 A T 1: 36,157,456 D1253E probably benign Het
Vmn1r8 A G 6: 57,036,594 K210R probably benign Het
Other mutations in Elobl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R6689:Elobl UTSW 11 88965093 missense possibly damaging 0.73
Posted On2015-12-18