Incidental Mutation 'IGL01928:Olfm4'
ID180353
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: 0.066) question?
Stock #IGL01928
Quality Score
Status
Chromosome14
Chromosomal Location79984081-80023139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 80011952 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 170 (V170I)
Ref Sequence ENSEMBL: ENSMUSP00000086112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088735] [ENSMUST00000228749]
Predicted Effect possibly damaging
Transcript: ENSMUST00000088735
AA Change: V170I

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: V170I

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 possibly damaging
Transcript: ENSMUST00000228749
AA Change: V170I

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A T 11: 9,683,342 T5024S probably benign Het
Adam23 C A 1: 63,557,446 N562K probably damaging Het
Brd9 G A 13: 73,955,511 M503I probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
Cyp2j8 A T 4: 96,470,476 probably benign Het
Erich6 T C 3: 58,621,271 I519M probably damaging Het
Fscn3 A G 6: 28,430,182 E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm45234 A G 6: 124,745,004 probably benign Het
Ighv1-47 T A 12: 114,991,293 M56L probably benign Het
Klf4 A G 4: 55,530,949 L45P probably benign Het
Ksr1 A C 11: 79,044,839 probably null Het
L3mbtl3 T C 10: 26,330,245 N341S unknown Het
Mfsd12 T C 10: 81,365,788 probably benign Het
Nlrp9c A T 7: 26,375,422 probably benign Het
Ntrk2 T A 13: 58,846,851 C194S probably damaging Het
Olfr936 A C 9: 39,047,413 D46E unknown Het
Onecut1 C A 9: 74,889,533 Q445K possibly damaging Het
Pak6 A G 2: 118,689,864 Q112R probably damaging Het
Pisd C A 5: 32,739,132 probably null Het
Rapgef2 C T 3: 79,103,963 E124K probably damaging Het
Snx14 T C 9: 88,381,512 T893A probably benign Het
Spag17 T C 3: 99,940,074 probably benign Het
Tgds T C 14: 118,116,129 T259A probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Zc3h12a A G 4: 125,119,986 S362P probably benign Het
Zfyve16 A G 13: 92,504,498 I1246T 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
IGL02333:Olfm4 APN 14 80021770 missense probably damaging 1.00
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
Z1176:Olfm4 UTSW 14 80021219 missense probably benign 0.39
Z1177:Olfm4 UTSW 14 80000452 missense probably benign 0.40
Posted On2014-05-07