Incidental Mutation 'IGL00814:Olfr596'
ID12852
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr596
Ensembl Gene ENSMUSG00000073953
Gene Nameolfactory receptor 596
SynonymsOlfr596-ps1, Gm15117, ENSMUSG00000073953, GA_x6K02T2PBJ9-6019769-6019943
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.077) question?
Stock #IGL00814
Quality Score
Status
Chromosome7
Chromosomal Location103305648-103312782 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 103309807 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Leucine at position 29 (I29L)
Ref Sequence ENSEMBL: ENSMUSP00000149187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000104880] [ENSMUST00000214577]
Predicted Effect probably benign
Transcript: ENSMUST00000104880
AA Change: I29L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000100475
Gene: ENSMUSG00000073953
AA Change: I29L

DomainStartEndE-ValueType
Pfam:7tm_4 33 311 1.5e-121 PFAM
Pfam:7TM_GPCR_Srsx 37 210 5.1e-11 PFAM
Pfam:7tm_1 43 293 1.6e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000214577
AA Change: I29L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 17 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cops6 G T 5: 138,163,378 R58L probably damaging Het
Elmo1 T A 13: 20,286,724 M262K probably damaging Het
Faim G A 9: 98,992,165 G15R probably damaging Het
Gria4 A T 9: 4,472,202 M429K probably damaging Het
Hipk2 G A 6: 38,818,549 R262W probably damaging Het
Kif23 A T 9: 61,937,107 I143K possibly damaging Het
Mbtd1 T A 11: 93,943,840 S615T possibly damaging Het
Nlrp9c C T 7: 26,384,750 S468N probably benign Het
Nt5c2 A T 19: 46,897,648 D212E probably benign Het
Pck2 T C 14: 55,548,299 probably benign Het
Pdcd6ip T C 9: 113,687,653 Q230R probably damaging Het
Pomk T C 8: 25,983,596 T110A probably benign Het
Psg23 C T 7: 18,614,683 W66* probably null Het
Rnf144b T C 13: 47,220,488 probably benign Het
Sppl2c G A 11: 104,186,979 G202S possibly damaging Het
Thnsl2 A C 6: 71,139,883 L95R probably damaging Het
Ttn A G 2: 76,807,167 V12248A probably benign Het
Other mutations in Olfr596
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01917:Olfr596 APN 7 103310357 nonsense probably null
G1patch:Olfr596 UTSW 7 103310354 missense probably damaging 1.00
R0601:Olfr596 UTSW 7 103310164 missense probably damaging 1.00
R0908:Olfr596 UTSW 7 103310573 missense possibly damaging 0.56
R1762:Olfr596 UTSW 7 103310221 missense probably damaging 1.00
R1772:Olfr596 UTSW 7 103310242 missense possibly damaging 0.94
R1806:Olfr596 UTSW 7 103310225 missense probably damaging 1.00
R2035:Olfr596 UTSW 7 103310256 missense probably damaging 1.00
R2365:Olfr596 UTSW 7 103310173 missense probably benign 0.00
R3827:Olfr596 UTSW 7 103309802 missense probably benign 0.12
R4241:Olfr596 UTSW 7 103310661 makesense probably null
R4619:Olfr596 UTSW 7 103309958 missense probably benign 0.04
R4620:Olfr596 UTSW 7 103309958 missense probably benign 0.04
R6279:Olfr596 UTSW 7 103310429 missense probably benign
R6300:Olfr596 UTSW 7 103310429 missense probably benign
R6505:Olfr596 UTSW 7 103309793 missense probably benign 0.00
R6725:Olfr596 UTSW 7 103310354 missense probably damaging 1.00
R7175:Olfr596 UTSW 7 103309847 missense probably benign 0.22
R7708:Olfr596 UTSW 7 103310561 missense probably damaging 1.00
R8855:Olfr596 UTSW 7 103309961 missense probably damaging 1.00
Posted On2012-12-06