Incidental Mutation 'IGL01928:Olfm4'
ID 180353
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 # IGL01928
Quality Score
Status
Chromosome 14
Chromosomal Location 80237742-80260581 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 80249392 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q3UZZ4
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: 9,633,342 (GRCm39) T5024S probably benign Het
Adam23 C A 1: 63,596,605 (GRCm39) N562K probably damaging Het
Brd9 G A 13: 74,103,630 (GRCm39) M503I probably benign Het
Cyp2j8 A T 4: 96,358,713 (GRCm39) probably benign Het
Erich6 T C 3: 58,528,692 (GRCm39) I519M probably damaging Het
Fscn3 A G 6: 28,430,181 (GRCm39) E117G possibly damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm45234 A G 6: 124,721,967 (GRCm39) probably benign Het
Ighv1-47 T A 12: 114,954,913 (GRCm39) M56L probably benign Het
Klf4 A G 4: 55,530,949 (GRCm39) L45P probably benign Het
Ksr1 A C 11: 78,935,665 (GRCm39) probably null Het
L3mbtl3 T C 10: 26,206,143 (GRCm39) N341S unknown Het
Mfsd12 T C 10: 81,201,622 (GRCm39) probably benign Het
Nlrp9c A T 7: 26,074,847 (GRCm39) probably benign Het
Ntrk2 T A 13: 58,994,665 (GRCm39) C194S probably damaging Het
Onecut1 C A 9: 74,796,815 (GRCm39) Q445K possibly damaging Het
Or8g22 A C 9: 38,958,709 (GRCm39) D46E unknown Het
Pak6 A G 2: 118,520,345 (GRCm39) Q112R probably damaging Het
Pisd C A 5: 32,896,476 (GRCm39) probably null Het
Rapgef2 C T 3: 79,011,270 (GRCm39) E124K probably damaging Het
Snx14 T C 9: 88,263,565 (GRCm39) T893A probably benign Het
Sp140l2 A G 1: 85,231,907 (GRCm39) probably benign Het
Spag17 T C 3: 99,847,390 (GRCm39) probably benign Het
Tgds T C 14: 118,353,541 (GRCm39) T259A probably benign Het
Vmn2r129 C T 4: 156,690,549 (GRCm39) noncoding transcript Het
Zc3h12a A G 4: 125,013,779 (GRCm39) S362P probably benign Het
Zfyve16 A G 13: 92,641,006 (GRCm39) I1246T probably damaging Het
Other mutations in Olfm4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00532:Olfm4 APN 14 80,258,583 (GRCm39) missense probably benign 0.12
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
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 2014-05-07