Incidental Mutation 'IGL02336:Olfm4'
ID288859
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 #IGL02336
Quality Score
Status
Chromosome14
Chromosomal Location79984081-80023139 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 80006321 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 110 (S110P)
Ref Sequence ENSEMBL: ENSMUSP00000086112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000088735] [ENSMUST00000228749]
Predicted Effect probably damaging
Transcript: ENSMUST00000088735
AA Change: S110P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000086112
Gene: ENSMUSG00000022026
AA Change: S110P

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: S110P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610507B11Rik T C 11: 78,289,032 V2127A probably damaging Het
Accsl A G 2: 93,865,908 V119A possibly damaging Het
Adamts12 T A 15: 11,311,245 M1196K probably benign Het
Adgre1 T A 17: 57,411,024 C345* probably null Het
Adrb2 T C 18: 62,179,007 E249G probably benign Het
Amdhd1 T A 10: 93,524,429 I423F probably benign Het
Ankhd1 A G 18: 36,594,814 N501S probably damaging Het
Cd180 T A 13: 102,705,313 I289N probably damaging Het
Chst5 T A 8: 111,890,317 I224F probably damaging Het
Cox6a2 A G 7: 128,205,931 I60T possibly damaging Het
Dnajc6 C T 4: 101,614,286 probably null Het
Dpp6 G A 5: 27,469,411 E179K probably benign Het
Fasn G A 11: 120,813,736 T1341I possibly damaging Het
Fat1 C T 8: 44,951,583 T457I probably benign Het
Filip1l A T 16: 57,571,733 probably null Het
Gje1 A T 10: 14,716,669 I123N probably damaging Het
Gli3 A G 13: 15,720,289 T683A probably damaging Het
Gm29326 C A 7: 29,561,408 noncoding transcript Het
Gm5460 A G 14: 34,043,952 probably benign Het
Hspa4 C T 11: 53,262,373 S739N probably benign Het
Ighv1-42 T A 12: 114,937,265 I67F probably damaging Het
Iqgap1 A G 7: 80,752,293 V408A probably benign Het
Kdm7a A T 6: 39,170,264 W250R probably damaging Het
Kif5a A G 10: 127,242,696 I360T possibly damaging Het
Maml1 T C 11: 50,258,165 N916S probably benign Het
Mier2 A T 10: 79,548,350 probably benign Het
Mpst A T 15: 78,410,274 T69S probably benign Het
Nlk C A 11: 78,586,937 V327F probably damaging Het
Nme5 A T 18: 34,578,677 S4T probably benign Het
Notch2 A G 3: 98,138,395 I1625M possibly damaging Het
Nup210l T C 3: 90,181,552 probably null Het
Oas1d A G 5: 120,919,048 E239G probably damaging Het
Olfr589 T C 7: 103,155,565 M61V probably benign Het
Parn T A 16: 13,566,703 I499F probably damaging Het
Ppargc1a G A 5: 51,495,726 Q165* probably null Het
Ppp1r12b T A 1: 134,886,506 E353V probably damaging Het
Prkdc A G 16: 15,785,978 Q2952R possibly damaging Het
Prkdc G T 16: 15,785,979 Q2952H probably benign Het
Qars G T 9: 108,514,986 E143* probably null Het
Reln A G 5: 21,929,134 Y2599H probably damaging Het
Rnf123 T C 9: 108,061,842 E803G probably damaging Het
Rnf141 G A 7: 110,837,198 Q8* probably null Het
Rnf167 A G 11: 70,650,126 I193V probably benign Het
Rprd2 A T 3: 95,787,310 M137K probably benign Het
Rtf1 T G 2: 119,728,745 probably benign Het
Serpina1d T A 12: 103,764,796 R308* probably null Het
Smg7 T C 1: 152,843,279 Y899C probably benign Het
Tbr1 C A 2: 61,804,992 H95Q possibly damaging Het
Tcf19 A T 17: 35,514,483 probably null Het
Timm44 T A 8: 4,267,692 R210W probably damaging Het
Trnau1ap C A 4: 132,314,020 E194* probably null Het
Trp63 G A 16: 25,820,442 G127S probably damaging Het
Trrap C T 5: 144,798,390 A989V probably benign Het
Ttn T C 2: 76,769,982 D18988G probably damaging Het
Tubb4b-ps1 T A 5: 7,179,952 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn1r80 A G 7: 12,193,254 Y97C probably benign Het
Vmn2r77 G A 7: 86,802,016 C370Y probably damaging Het
Xntrpc C A 7: 102,084,285 A147D probably damaging Het
Zc3h4 C T 7: 16,425,777 S424F unknown Het
Zcwpw1 T A 5: 137,810,114 S275T probably damaging Het
Zfp979 C T 4: 147,615,351 C44Y probably damaging Het
Zscan20 T C 4: 128,585,794 H968R probably damaging Het
Zswim3 T C 2: 164,820,377 V259A probably damaging Het
Zzz3 T G 3: 152,428,059 D251E possibly 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
IGL02333:Olfm4 APN 14 80021770 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