Incidental Mutation 'IGL01326:Olfm1'
ID74250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfm1
Ensembl Gene ENSMUSG00000026833
Gene Nameolfactomedin 1
SynonymsNoelin 1, Pancortin 1-4, Noelin 2
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01326
Quality Score
Status
Chromosome2
Chromosomal Location28192992-28230736 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 28229552 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 385 (Y385H)
Ref Sequence ENSEMBL: ENSMUSP00000109553 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000113920]
Predicted Effect possibly damaging
Transcript: ENSMUST00000028177
AA Change: Y428H

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: Y428H

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Noelin-1 54 153 1.5e-50 PFAM
Blast:OLF 170 215 1e-5 BLAST
OLF 228 478 5.43e-170 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100244
AA Change: Y400H

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: Y400H

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
Pfam:Noelin-1 25 125 2.6e-53 PFAM
Blast:OLF 142 187 1e-5 BLAST
OLF 200 450 5.43e-170 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113920
AA Change: Y385H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: Y385H

DomainStartEndE-ValueType
Pfam:Noelin-1 10 110 7.4e-53 PFAM
Blast:OLF 127 172 1e-5 BLAST
OLF 185 435 5.43e-170 SMART
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 product shares extensive sequence similarity with the rat neuronal olfactomedin-related ER localized protein. While the exact function of the encoded protein is not known, its abundant expression in brain suggests that it may have an essential role in nerve tissue. Several alternatively spliced transcripts encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null mutation display decreased cerebral infarction size and reduced fertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adh1 G A 3: 138,286,911 V263M probably damaging Het
Akap13 T A 7: 75,725,348 H1909Q probably benign Het
Atg2b C T 12: 105,622,144 A1936T probably damaging Het
Atp8b3 G T 10: 80,524,376 L954M probably damaging Het
C8a T C 4: 104,856,420 Y171C probably damaging Het
Cd6 A G 19: 10,791,102 S508P probably benign Het
Cdk4 A G 10: 127,064,623 D86G possibly damaging Het
Cdr2l G T 11: 115,390,970 R100S probably benign Het
Cndp1 T A 18: 84,622,232 T283S probably benign Het
Cr2 T C 1: 195,141,221 Y1023C probably null Het
Csmd3 A G 15: 47,849,785 F1494L probably benign Het
Eng G T 2: 32,672,382 G231W probably benign Het
Erp44 A G 4: 48,218,126 V181A probably benign Het
Fam102b A G 3: 108,979,785 V299A possibly damaging Het
Fkbp15 A G 4: 62,323,250 S553P probably damaging Het
Glg1 A G 8: 111,182,573 V495A probably damaging Het
Gm9631 A T 11: 121,945,628 D28E possibly damaging Het
Gnptab G T 10: 88,433,065 L543F probably damaging Het
Hist1h4c A T 13: 23,698,370 I27N probably damaging Het
Khdrbs2 T G 1: 32,657,477 L329R possibly damaging Het
Kidins220 C A 12: 25,038,499 H1080Q probably damaging Het
Maml1 G A 11: 50,265,888 P487S probably benign Het
Marc2 T C 1: 184,833,851 probably benign Het
Me1 C T 9: 86,598,718 probably null Het
Morc2a C T 11: 3,681,775 R569C probably benign Het
Mrc1 A G 2: 14,266,524 Q413R probably damaging Het
Mrgprx1 A T 7: 48,021,769 C77S probably benign Het
Myo1d A T 11: 80,684,321 probably benign Het
Nr4a1 T G 15: 101,274,059 L538R probably damaging Het
Olfr1034 A G 2: 86,047,283 E267G probably damaging Het
Olfr1238 A T 2: 89,406,331 F249L possibly damaging Het
Pkd1 T A 17: 24,576,174 Y2278* probably null Het
Plcg2 T C 8: 117,573,999 probably benign Het
Prkdc G T 16: 15,829,692 C3660F probably benign Het
Ptpn11 T C 5: 121,143,136 D493G probably damaging Het
Rad23b T A 4: 55,383,601 F278I possibly damaging Het
Saxo2 T C 7: 82,648,405 I9V probably benign Het
Scn7a T C 2: 66,752,260 I98V probably benign Het
Serac1 T A 17: 6,074,253 probably benign Het
Simc1 T C 13: 54,524,660 C274R probably benign Het
Sirt3 A G 7: 140,864,093 probably benign Het
Tctn3 A G 19: 40,597,436 L555P probably damaging Het
Ttc14 A G 3: 33,801,358 I151V probably benign Het
Ush2a T A 1: 188,263,321 Y96* probably null Het
Usp42 T C 5: 143,721,215 T270A possibly damaging Het
Vmn1r31 A G 6: 58,472,799 I27T probably benign Het
Vmn2r93 G A 17: 18,316,644 A530T possibly damaging Het
Other mutations in Olfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Olfm1 APN 2 28214703 missense probably damaging 1.00
IGL01358:Olfm1 APN 2 28229495 missense probably damaging 1.00
IGL02076:Olfm1 APN 2 28222625 missense probably damaging 0.99
IGL02337:Olfm1 APN 2 28229685 missense probably damaging 1.00
IGL02693:Olfm1 APN 2 28212650 missense probably damaging 1.00
IGL02825:Olfm1 APN 2 28229078 missense probably damaging 1.00
IGL02974:Olfm1 APN 2 28229689 missense probably damaging 1.00
R0266:Olfm1 UTSW 2 28229607 missense probably damaging 1.00
R0348:Olfm1 UTSW 2 28212542 missense probably benign 0.26
R0411:Olfm1 UTSW 2 28208211 missense possibly damaging 0.51
R0542:Olfm1 UTSW 2 28214628 missense possibly damaging 0.85
R1252:Olfm1 UTSW 2 28229435 missense probably benign 0.01
R1649:Olfm1 UTSW 2 28229267 missense possibly damaging 0.71
R1696:Olfm1 UTSW 2 28208116 nonsense probably null
R1931:Olfm1 UTSW 2 28222662 splice site probably null
R1986:Olfm1 UTSW 2 28214706 missense probably benign 0.13
R3749:Olfm1 UTSW 2 28208088 missense probably damaging 0.96
R3913:Olfm1 UTSW 2 28208174 missense possibly damaging 0.88
R4927:Olfm1 UTSW 2 28214786 missense probably benign 0.18
R4940:Olfm1 UTSW 2 28222590 missense possibly damaging 0.51
R7033:Olfm1 UTSW 2 28229336 missense probably damaging 1.00
R7059:Olfm1 UTSW 2 28222616 missense probably damaging 1.00
R8046:Olfm1 UTSW 2 28229123 missense possibly damaging 0.71
X0018:Olfm1 UTSW 2 28229369 missense possibly damaging 0.51
Posted On2013-10-07