Incidental Mutation 'IGL02333:Olfm4'
ID288777
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfm4
Ensembl Gene ENSMUSG00000022026
Gene Nameolfactomedin 4
SynonymsGW112, OlfD, pPD4, GC1, LOC239192, LOC380924
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.067) question?
Stock #IGL02333
Quality Score
Status
Chromosome14
Chromosomal Location79984081-80023139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 80021770 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 453 (T453I)
Ref Sequence ENSEMBL: ENSMUSP00000154285 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088735] [ENSMUST00000228749]
Predicted Effect probably damaging
Transcript: ENSMUST00000088735
AA Change: T486I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: T486I

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 32 43 N/A INTRINSIC
low complexity region 225 243 N/A INTRINSIC
OLF 274 532 8.53e-72 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226541
Predicted Effect probably damaging
Transcript: ENSMUST00000228749
AA Change: T453I

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene was originally cloned from human myeloblasts and found to be selectively expressed in inflammed colonic epithelium. This gene encodes a member of the olfactomedin family. The encoded protein is an antiapoptotic factor that promotes tumor growth and is an extracellular matrix glycoprotein that facilitates cell adhesion. [provided by RefSeq, Mar 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced colonization of the gastric mucosa by Helicobacter pylori but increased inflammatory response to H. pylori infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace G A 11: 105,971,447 V276I probably benign Het
Acss2 T A 2: 155,555,884 W289R probably damaging Het
Alpk2 A G 18: 65,349,480 S19P probably damaging Het
Ano3 T C 2: 110,697,199 probably benign Het
Atxn1 G A 13: 45,567,204 S405F probably damaging Het
Atxn2 A G 5: 121,781,387 Y386C probably damaging Het
Bach2 T A 4: 32,575,334 L643* probably null Het
Ccl22 T A 8: 94,749,879 L91Q probably damaging Het
Cdc40 A G 10: 40,867,859 Y81H probably benign Het
Col5a3 C A 9: 20,799,306 R549M unknown Het
Eif3e A T 15: 43,266,137 N198K probably benign Het
Emp2 A G 16: 10,284,511 Y146H probably damaging Het
Impg1 G A 9: 80,440,755 L66F possibly damaging Het
Itsn1 A G 16: 91,820,676 probably benign Het
Khdrbs3 T C 15: 69,049,394 Y187H probably damaging Het
Klhdc7a T A 4: 139,967,156 H160L probably benign Het
Klhl2 G A 8: 64,759,750 R252W probably damaging Het
Krba1 C T 6: 48,413,087 T595I probably damaging Het
Myo9b G T 8: 71,358,993 D1887Y possibly damaging Het
Sin3a A G 9: 57,107,559 N688S possibly damaging Het
Slc47a1 A G 11: 61,370,124 V150A probably damaging Het
Sptbn4 A G 7: 27,364,299 L2234P probably damaging Het
Trpm4 C T 7: 45,322,115 V166M possibly damaging Het
Usp54 A T 14: 20,589,395 F156L probably damaging Het
Vmn2r32 A T 7: 7,464,144 F795Y probably damaging Het
Other mutations in Olfm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Olfm4 APN 14 80021143 missense probably benign 0.12
IGL01108:Olfm4 APN 14 80021899 missense probably benign 0.15
IGL01599:Olfm4 APN 14 80021310 missense probably damaging 1.00
IGL01872:Olfm4 APN 14 80021928 makesense probably null
IGL01928:Olfm4 APN 14 80011952 missense possibly damaging 0.71
IGL02336:Olfm4 APN 14 80006321 missense probably damaging 1.00
IGL02811:Olfm4 APN 14 80021673 missense probably damaging 1.00
PIT4651001:Olfm4 UTSW 14 80021485 missense probably benign 0.00
R1428:Olfm4 UTSW 14 80021403 missense probably damaging 1.00
R1649:Olfm4 UTSW 14 80011982 missense probably damaging 0.98
R2139:Olfm4 UTSW 14 80014315 missense probably benign 0.00
R2270:Olfm4 UTSW 14 80011875 missense probably damaging 0.96
R2401:Olfm4 UTSW 14 80021752 missense probably damaging 1.00
R4527:Olfm4 UTSW 14 80021224 missense probably benign 0.13
R4649:Olfm4 UTSW 14 80021307 missense probably benign 0.00
R5232:Olfm4 UTSW 14 80021682 missense probably damaging 1.00
R5512:Olfm4 UTSW 14 80021347 missense probably benign 0.32
R6198:Olfm4 UTSW 14 80000373 missense probably benign 0.18
R6642:Olfm4 UTSW 14 80021667 missense probably damaging 1.00
R6828:Olfm4 UTSW 14 80021533 missense probably damaging 1.00
R6916:Olfm4 UTSW 14 80014198 missense probably damaging 0.97
R6960:Olfm4 UTSW 14 80021314 missense probably damaging 0.97
R7329:Olfm4 UTSW 14 80011929 missense possibly damaging 0.79
Posted On2015-04-16