Incidental Mutation 'IGL01458:Olfr1118'
ID84864
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfr1118
Ensembl Gene ENSMUSG00000083706
Gene Nameolfactory receptor 1118
SynonymsMOR264-22, Olfr1118-ps, GA_x6K02T2Q125-48795705-48796673
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.092) question?
Stock #IGL01458
Quality Score
Status
Chromosome2
Chromosomal Location87307581-87313621 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 87309482 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 251 (T251I)
Ref Sequence ENSEMBL: ENSMUSP00000150394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090717] [ENSMUST00000121296] [ENSMUST00000216396]
Predicted Effect probably damaging
Transcript: ENSMUST00000090717
AA Change: T231I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132837
Gene: ENSMUSG00000070855
AA Change: T231I

DomainStartEndE-ValueType
Pfam:7tm_4 22 298 1.1e-53 PFAM
Pfam:7tm_1 32 281 1.1e-20 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000120328
Predicted Effect probably damaging
Transcript: ENSMUST00000121296
AA Change: T231I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144143
Gene: ENSMUSG00000083706
AA Change: T231I

DomainStartEndE-ValueType
Pfam:7tm_4 22 298 1.2e-51 PFAM
Pfam:7tm_1 32 281 7.2e-21 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000216396
AA Change: T251I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433N12Rik A T 9: 3,134,008 noncoding transcript Het
Akap12 A G 10: 4,354,060 E290G probably damaging Het
Akap6 T A 12: 52,886,818 C364* probably null Het
Akr1c18 A T 13: 4,137,144 Y198N probably damaging Het
Aurka T C 2: 172,368,979 probably benign Het
Bloc1s6 T A 2: 122,744,215 probably null Het
Clca1 C T 3: 145,007,778 M697I probably benign Het
Csn2 T C 5: 87,696,020 probably benign Het
Dsc1 T C 18: 20,099,138 E271G probably damaging Het
Evi5 G A 5: 107,815,647 A354V probably damaging Het
Fcer2a T A 8: 3,688,151 R137S probably benign Het
Fto A G 8: 91,441,716 T266A probably benign Het
Fzd4 G A 7: 89,404,735 V17I unknown Het
Gadd45b T C 10: 80,931,241 L105P probably damaging Het
Galntl6 T C 8: 58,427,709 S137G probably damaging Het
Gm2022 A T 12: 87,895,388 K7* probably null Het
Gm5771 T G 6: 41,396,687 D161E probably benign Het
Gpr135 T C 12: 72,069,668 M442V probably benign Het
Kcnq1 T A 7: 143,194,278 Y330* probably null Het
Kdm5b A G 1: 134,621,986 R1106G possibly damaging Het
Lrrc8e C T 8: 4,236,141 R789W probably damaging Het
Myo16 T C 8: 10,435,853 L644P probably damaging Het
Nbeal1 G T 1: 60,242,625 probably null Het
Nlrp4c T C 7: 6,100,784 C906R possibly damaging Het
Olfr344 T A 2: 36,568,742 L48H probably damaging Het
Olfr389 A T 11: 73,776,706 I207N probably benign Het
Ovgp1 A G 3: 105,974,991 N70D probably benign Het
Panx3 A T 9: 37,661,147 M369K probably damaging Het
Plet1 A G 9: 50,494,717 N52S probably benign Het
Psg18 A T 7: 18,354,816 M1K probably null Het
Ptprz1 A T 6: 22,972,844 D251V probably damaging Het
Serpinb6a A G 13: 33,930,081 Y88H possibly damaging Het
Siglecf G A 7: 43,355,138 R297Q possibly damaging Het
Tbx15 T C 3: 99,316,228 V244A probably damaging Het
Top2a A T 11: 99,011,030 L458Q probably damaging Het
Trim39 A G 17: 36,263,963 probably benign Het
Vps37c T C 19: 10,710,417 C81R probably damaging Het
Wdr62 A T 7: 30,241,762 S744T probably benign Het
Zyg11a G A 4: 108,204,902 T234I probably damaging Het
Other mutations in Olfr1118
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01328:Olfr1118 APN 2 87309581 missense possibly damaging 0.95
IGL02544:Olfr1118 APN 2 87309127 missense possibly damaging 0.91
IGL02748:Olfr1118 APN 2 87309665 missense probably damaging 1.00
IGL03077:Olfr1118 APN 2 87309712 makesense probably null
R0411:Olfr1118 UTSW 2 87309058 missense probably benign 0.07
R0525:Olfr1118 UTSW 2 87309349 missense probably benign 0.10
R1703:Olfr1118 UTSW 2 87309410 missense probably benign 0.00
R1750:Olfr1118 UTSW 2 87308852 missense probably benign 0.02
R2005:Olfr1118 UTSW 2 87309448 missense probably benign 0.24
R2090:Olfr1118 UTSW 2 87309418 missense probably benign 0.02
R3846:Olfr1118 UTSW 2 87309182 missense probably benign 0.15
R4011:Olfr1118 UTSW 2 87309211 missense probably benign 0.03
R4077:Olfr1118 UTSW 2 87308864 splice site probably null 0.42
R5132:Olfr1118 UTSW 2 87308938 missense probably damaging 1.00
R5368:Olfr1118 UTSW 2 87308782 splice site probably null
R7355:Olfr1118 UTSW 2 87309410 missense probably benign 0.00
R7405:Olfr1118 UTSW 2 87308995 missense probably benign 0.00
R7437:Olfr1118 UTSW 2 87309343 missense probably benign
R7554:Olfr1118 UTSW 2 87309005 missense probably damaging 1.00
R7609:Olfr1118 UTSW 2 87309509 missense probably benign 0.01
R8156:Olfr1118 UTSW 2 87308974 missense probably damaging 0.97
RF010:Olfr1118 UTSW 2 87308840 missense possibly damaging 0.83
Posted On2013-11-11