Incidental Mutation 'IGL00588:Smim15'
ID 5914
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Smim15
Ensembl Gene ENSMUSG00000071180
Gene Name small integral membrane protein 15
Synonyms 2810008M24Rik
Accession Numbers
Essential gene? Not available question?
Stock # IGL00588
Quality Score
Status
Chromosome 13
Chromosomal Location 108181008-108185680 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 108184063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 23 (L23P)
Ref Sequence ENSEMBL: ENSMUSP00000153340 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095458] [ENSMUST00000223808] [ENSMUST00000224361] [ENSMUST00000224390] [ENSMUST00000225702] [ENSMUST00000225972] [ENSMUST00000226042]
AlphaFold Q3UTD9
Predicted Effect probably damaging
Transcript: ENSMUST00000095458
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000093110
Gene: ENSMUSG00000071180
AA Change: L23P

DomainStartEndE-ValueType
Pfam:UPF0542 4 71 3.9e-36 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000223808
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224361
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000224390
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225702
Predicted Effect probably damaging
Transcript: ENSMUST00000225972
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably damaging
Transcript: ENSMUST00000226042
AA Change: L23P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 G A 17: 56,601,262 (GRCm39) P288S probably damaging Het
Atosa A G 9: 74,916,863 (GRCm39) I487M probably damaging Het
Cd1d1 T C 3: 86,905,480 (GRCm39) D171G probably damaging Het
Cd96 T C 16: 45,858,917 (GRCm39) N530S probably benign Het
Csn1s1 A G 5: 87,815,118 (GRCm39) I5V probably benign Het
Fam120b T A 17: 15,622,857 (GRCm39) Y278* probably null Het
Fam186a T C 15: 99,825,572 (GRCm39) probably benign Het
Fhip1a G A 3: 85,579,925 (GRCm39) T760M probably benign Het
Gimap6 T C 6: 48,679,355 (GRCm39) K227R possibly damaging Het
Gli3 A T 13: 15,818,977 (GRCm39) T260S possibly damaging Het
Gm12888 A T 4: 121,176,642 (GRCm39) M53K possibly damaging Het
Klhl9 C T 4: 88,639,056 (GRCm39) S395N probably damaging Het
Lpp T C 16: 24,663,938 (GRCm39) M280T probably damaging Het
Ly96 A G 1: 16,776,452 (GRCm39) probably null Het
Mamdc2 T A 19: 23,330,680 (GRCm39) T376S possibly damaging Het
Man2b1 C A 8: 85,811,267 (GRCm39) probably null Het
Ndufs8 G A 19: 3,961,740 (GRCm39) R3C probably benign Het
Prox1 T C 1: 189,855,607 (GRCm39) probably benign Het
Prrx1 T C 1: 163,089,536 (GRCm39) N97S probably damaging Het
Rfx3 G A 19: 27,803,476 (GRCm39) Q270* probably null Het
Serpinb1c T C 13: 33,067,958 (GRCm39) K213E probably damaging Het
Slc1a2 A G 2: 102,586,346 (GRCm39) I317V probably benign Het
Tcea3 A T 4: 136,001,003 (GRCm39) N338Y probably damaging Het
Ttn A T 2: 76,658,071 (GRCm39) probably benign Het
Zfp61 T A 7: 23,990,520 (GRCm39) I544F probably benign Het
Zfp954 C T 7: 7,118,366 (GRCm39) A393T probably benign Het
Other mutations in Smim15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01940:Smim15 APN 13 108,184,164 (GRCm39) missense probably damaging 1.00
IGL02215:Smim15 APN 13 108,184,048 (GRCm39) missense probably benign 0.02
Posted On 2012-04-20