Incidental Mutation 'R6689:Elobl'
ID 527892
Institutional Source Beutler Lab
Gene Symbol Elobl
Ensembl Gene ENSMUSG00000057534
Gene Name elongin B-like
Synonyms Tceb2l, Gm15698
MMRRC Submission 044807-MU
Accession Numbers
Essential gene? Not available question?
Stock # R6689 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 88855484-88857757 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 88855919 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 48 (N48S)
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: N48S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000103534
Gene: ENSMUSG00000057534
AA Change: N48S

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: N56S

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000080951
Gene: ENSMUSG00000057534
AA Change: N56S

DomainStartEndE-ValueType
UBQ 9 88 3.24e-4 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000121228
AA Change: N48S

PolyPhen 2 Score 0.732 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000113104
Gene: ENSMUSG00000057534
AA Change: N48S

DomainStartEndE-ValueType
UBQ 1 80 3.24e-4 SMART
low complexity region 95 103 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 16 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankk1 T A 9: 49,331,776 (GRCm39) I173F probably damaging Het
Aurka A G 2: 172,212,313 (GRCm39) probably null Het
B4galnt4 C T 7: 140,647,897 (GRCm39) T471I probably benign Het
Ccn1 T A 3: 145,353,543 (GRCm39) M340L probably benign Het
Commd6 C A 14: 101,877,895 (GRCm39) probably benign Het
Grem1 T C 2: 113,580,276 (GRCm39) E75G probably benign Het
Hp C T 8: 110,302,352 (GRCm39) V199I probably benign Het
Kcna2 C A 3: 107,012,343 (GRCm39) S308Y probably damaging Het
Lgr5 T A 10: 115,302,513 (GRCm39) I293F probably damaging Het
Lmln A G 16: 32,925,152 (GRCm39) R462G probably benign Het
Lsm3 GATATATA GATATATATA 6: 91,496,617 (GRCm39) probably null Het
Mroh4 A G 15: 74,483,852 (GRCm39) V495A probably damaging Het
Or10c1 C G 17: 37,522,048 (GRCm39) G232A probably damaging Het
Or8h10 A G 2: 86,808,498 (GRCm39) I214T probably benign Het
Spmip4 A G 6: 50,566,089 (GRCm39) probably null Het
Stim2 G A 5: 54,273,318 (GRCm39) R524H probably damaging Het
Other mutations in Elobl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02930:Elobl APN 11 88,856,012 (GRCm39) missense possibly damaging 0.58
R8076:Elobl UTSW 11 88,855,796 (GRCm39) missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- GTTCATTAGCAGGGTCCTCATC -3'
(R):5'- ACACTTCTCAGGTCCAGTGAG -3'

Sequencing Primer
(F):5'- CAGGGTCCTCATCAAAAAGTGGTTC -3'
(R):5'- TCCAGTGAGGTGCCTGGAG -3'
Posted On 2018-07-23