Incidental Mutation 'IGL00532:Olfm4'
ID 12839
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfm4
Ensembl Gene ENSMUSG00000022026
Gene Name olfactomedin 4
Synonyms GC1, OlfD, pPD4, LOC380924, LOC239192, GW112
Accession Numbers
Essential gene? Probably non essential (E-score: 0.090) question?
Stock # IGL00532
Quality Score
Status
Chromosome 14
Chromosomal Location 80237742-80260581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 80258583 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 277 (V277A)
Ref Sequence ENSEMBL: ENSMUSP00000086112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088735] [ENSMUST00000228749]
AlphaFold Q3UZZ4
Predicted Effect probably benign
Transcript: ENSMUST00000088735
AA Change: V277A

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: V277A

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 benign
Transcript: ENSMUST00000228749
AA Change: V244A

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
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: 6 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap11a A G 2: 113,664,411 (GRCm39) V624A probably benign Het
Catsperb G A 12: 101,429,378 (GRCm39) V184M probably damaging Het
Eprs1 G T 1: 185,139,345 (GRCm39) C910F probably benign Het
Ppp4r3a A G 12: 101,010,912 (GRCm39) L556P probably damaging Het
Samd3 A G 10: 26,127,744 (GRCm39) H247R probably damaging Het
Zfp558 A T 9: 18,367,883 (GRCm39) C302S possibly damaging Het
Other mutations in Olfm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01108:Olfm4 APN 14 80,259,339 (GRCm39) missense probably benign 0.15
IGL01599:Olfm4 APN 14 80,258,750 (GRCm39) missense probably damaging 1.00
IGL01872:Olfm4 APN 14 80,259,368 (GRCm39) makesense probably null
IGL01928:Olfm4 APN 14 80,249,392 (GRCm39) missense possibly damaging 0.71
IGL02333:Olfm4 APN 14 80,259,210 (GRCm39) missense probably damaging 1.00
IGL02336:Olfm4 APN 14 80,243,761 (GRCm39) missense probably damaging 1.00
IGL02811:Olfm4 APN 14 80,259,113 (GRCm39) missense probably damaging 1.00
PIT4651001:Olfm4 UTSW 14 80,258,925 (GRCm39) missense probably benign 0.00
R1428:Olfm4 UTSW 14 80,258,843 (GRCm39) missense probably damaging 1.00
R1649:Olfm4 UTSW 14 80,249,422 (GRCm39) missense probably damaging 0.98
R2139:Olfm4 UTSW 14 80,251,755 (GRCm39) missense probably benign 0.00
R2270:Olfm4 UTSW 14 80,249,315 (GRCm39) missense probably damaging 0.96
R2401:Olfm4 UTSW 14 80,259,192 (GRCm39) missense probably damaging 1.00
R4527:Olfm4 UTSW 14 80,258,664 (GRCm39) missense probably benign 0.13
R4649:Olfm4 UTSW 14 80,258,747 (GRCm39) missense probably benign 0.00
R5232:Olfm4 UTSW 14 80,259,122 (GRCm39) missense probably damaging 1.00
R5512:Olfm4 UTSW 14 80,258,787 (GRCm39) missense probably benign 0.32
R6198:Olfm4 UTSW 14 80,237,813 (GRCm39) missense probably benign 0.18
R6642:Olfm4 UTSW 14 80,259,107 (GRCm39) missense probably damaging 1.00
R6828:Olfm4 UTSW 14 80,258,973 (GRCm39) missense probably damaging 1.00
R6916:Olfm4 UTSW 14 80,251,638 (GRCm39) missense probably damaging 0.97
R6960:Olfm4 UTSW 14 80,258,754 (GRCm39) missense probably damaging 0.97
R7329:Olfm4 UTSW 14 80,249,369 (GRCm39) missense possibly damaging 0.79
R7971:Olfm4 UTSW 14 80,259,240 (GRCm39) missense probably damaging 0.98
R8872:Olfm4 UTSW 14 80,258,943 (GRCm39) missense probably damaging 1.00
R9008:Olfm4 UTSW 14 80,255,607 (GRCm39) missense unknown
R9398:Olfm4 UTSW 14 80,249,249 (GRCm39) missense probably benign 0.12
R9599:Olfm4 UTSW 14 80,243,747 (GRCm39) missense probably damaging 1.00
R9600:Olfm4 UTSW 14 80,243,747 (GRCm39) missense probably damaging 1.00
R9784:Olfm4 UTSW 14 80,249,348 (GRCm39) missense probably damaging 0.99
Z1176:Olfm4 UTSW 14 80,258,659 (GRCm39) missense probably benign 0.39
Z1177:Olfm4 UTSW 14 80,237,892 (GRCm39) missense probably benign 0.40
Posted On 2012-12-06