Incidental Mutation 'D3080:Stoml3'
ID113
Institutional Source Beutler Lab
Gene Symbol Stoml3
Ensembl Gene ENSMUSG00000027744
Gene Namestomatin (Epb7.2)-like 3
SynonymsSRO, SLP3
Accession Numbers

Genbank: NM_153156; MGI: 2388072

Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #D3080 of strain grasshopper
Quality Score
Status Validated
Chromosome3
Chromosomal Location53488653-53508502 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53497994 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 32 (F32S)
Ref Sequence ENSEMBL: ENSMUSP00000029307 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029307]
Predicted Effect probably benign
Transcript: ENSMUST00000029307
AA Change: F32S

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029307
Gene: ENSMUSG00000027744
AA Change: F32S

DomainStartEndE-ValueType
transmembrane domain 21 43 N/A INTRINSIC
PHB 45 204 3.56e-56 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124702
Meta Mutation Damage Score 0.0924 question?
Coding Region Coverage
  • 1x: 88.9%
  • 3x: 76.7%
Validation Efficiency 82% (141/173)
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele display loss of mechanoreceptor function and impaired tactile-driven behaviors. [provided by MGI curators]
Allele List at MGI

All alleles(2) : Targeted, knock-out(1) Gene trapped(1)

Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik C A 5: 87,971,987 P201Q possibly damaging Het
Bdp1 A T 13: 100,023,621 S2417R probably benign Het
Dscaml1 A T 9: 45,684,325 H783L probably benign Het
Fbxl5 A T 5: 43,758,366 M568K probably benign Het
Gab1 T A 8: 80,766,378 D710V probably damaging Homo
Gabrr2 T C 4: 33,084,466 F128S probably damaging Het
Gm8251 C A 1: 44,067,335 Het
Hyou1 T A 9: 44,384,477 V343E probably damaging Het
Nlrp4a A G 7: 26,444,341 T44A probably benign Het
Nsd3 C A 8: 25,713,545 T1362N possibly damaging Homo
Olfr523 G A 7: 140,176,362 V81M possibly damaging Het
Pcm1 T A 8: 41,275,939 N649K probably damaging Homo
Pde4dip T C 3: 97,766,830 K257E probably damaging Het
Pfpl G A 19: 12,428,832 R149Q probably damaging Homo
Pou2f2 G T 7: 25,097,133 probably benign Het
Rptn A G 3: 93,395,828 D156G possibly damaging Het
Sec31a T C 5: 100,363,832 D1107G probably damaging Het
Smyd3 A G 1: 179,086,422 Y239H probably damaging Het
Tnnc1 C A 14: 31,210,190 D62E probably damaging Homo
Vsig10 C T 5: 117,343,819 A358V probably damaging Het
Other mutations in Stoml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01733:Stoml3 APN 3 53498127 missense probably benign 0.00
IGL02394:Stoml3 APN 3 53498119 splice site probably benign
IGL02406:Stoml3 APN 3 53503250 missense probably damaging 1.00
3-1:Stoml3 UTSW 3 53497975 missense probably benign 0.00
R0755:Stoml3 UTSW 3 53498138 nonsense probably null
R1377:Stoml3 UTSW 3 53507641 missense probably benign
R1702:Stoml3 UTSW 3 53505431 missense probably benign 0.00
R1945:Stoml3 UTSW 3 53505445 missense possibly damaging 0.86
R2155:Stoml3 UTSW 3 53507587 missense probably damaging 1.00
R3890:Stoml3 UTSW 3 53507454 missense probably damaging 1.00
R5048:Stoml3 UTSW 3 53500792 missense possibly damaging 0.64
R5717:Stoml3 UTSW 3 53505516 missense probably damaging 1.00
R6275:Stoml3 UTSW 3 53507506 missense probably damaging 0.98
R6291:Stoml3 UTSW 3 53507516 missense probably damaging 1.00
R7686:Stoml3 UTSW 3 53503168 missense probably damaging 1.00
Z1176:Stoml3 UTSW 3 53503226 nonsense probably null
Nature of Mutation
DNA sequencing using the SOLiD technique identified a G to A transition at position 95 of the Stoml3 transcript in exon 2 of 7 total exons. Two transcripts of the Stoml3 gene are displayed on Ensembl. The mutated nucleotide causes a phenylalanine to serine substitution at amino acid 32 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
Protein Function and Prediction
The Stoml3  gene encodes for a 287 amino acid single-pass type III membrane protein found in olfactory epithelium.  STOML3 is detected in lipid rafts, apical membranes and olfactory cilia (Uniprot Q6PE84).
 
The F32S change occurs in the transmembrane domain and is predicted to be probably benign by the PolyPhen program.
Posted On2010-03-11