Incidental Mutation 'IGL01326:Olfm1'
ID 74250
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfm1
Ensembl Gene ENSMUSG00000026833
Gene Name olfactomedin 1
Synonyms Noelin 1, Pancortin 1-4, Noelin 2
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01326
Quality Score
Status
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 28119564 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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: 137,992,672 (GRCm39) V263M probably damaging Het
Akap13 T A 7: 75,375,096 (GRCm39) H1909Q probably benign Het
Atg2b C T 12: 105,588,403 (GRCm39) A1936T probably damaging Het
Atp8b3 G T 10: 80,360,210 (GRCm39) L954M probably damaging Het
C8a T C 4: 104,713,617 (GRCm39) Y171C probably damaging Het
Cd6 A G 19: 10,768,466 (GRCm39) S508P probably benign Het
Cdk4 A G 10: 126,900,492 (GRCm39) D86G possibly damaging Het
Cdr2l G T 11: 115,281,796 (GRCm39) R100S probably benign Het
Cndp1 T A 18: 84,640,357 (GRCm39) T283S probably benign Het
Cr2 T C 1: 194,823,529 (GRCm39) Y1023C probably null Het
Csmd3 A G 15: 47,713,181 (GRCm39) F1494L probably benign Het
Eeig2 A G 3: 108,887,101 (GRCm39) V299A possibly damaging Het
Eng G T 2: 32,562,394 (GRCm39) G231W probably benign Het
Erp44 A G 4: 48,218,126 (GRCm39) V181A probably benign Het
Fkbp15 A G 4: 62,241,487 (GRCm39) S553P probably damaging Het
Glg1 A G 8: 111,909,205 (GRCm39) V495A probably damaging Het
Gm9631 A T 11: 121,836,454 (GRCm39) D28E possibly damaging Het
Gnptab G T 10: 88,268,927 (GRCm39) L543F probably damaging Het
H4c3 A T 13: 23,882,353 (GRCm39) I27N probably damaging Het
Khdrbs2 T G 1: 32,696,558 (GRCm39) L329R possibly damaging Het
Kidins220 C A 12: 25,088,498 (GRCm39) H1080Q probably damaging Het
Maml1 G A 11: 50,156,715 (GRCm39) P487S probably benign Het
Me1 C T 9: 86,480,771 (GRCm39) probably null Het
Morc2a C T 11: 3,631,775 (GRCm39) R569C probably benign Het
Mrc1 A G 2: 14,271,335 (GRCm39) Q413R probably damaging Het
Mrgprx1 A T 7: 47,671,517 (GRCm39) C77S probably benign Het
Mtarc2 T C 1: 184,566,048 (GRCm39) probably benign Het
Myo1d A T 11: 80,575,147 (GRCm39) probably benign Het
Nr4a1 T G 15: 101,171,940 (GRCm39) L538R probably damaging Het
Or4a39 A T 2: 89,236,675 (GRCm39) F249L possibly damaging Het
Or5m9 A G 2: 85,877,627 (GRCm39) E267G probably damaging Het
Pkd1 T A 17: 24,795,148 (GRCm39) Y2278* probably null Het
Plcg2 T C 8: 118,300,738 (GRCm39) probably benign Het
Prkdc G T 16: 15,647,556 (GRCm39) C3660F probably benign Het
Ptpn11 T C 5: 121,281,199 (GRCm39) D493G probably damaging Het
Rad23b T A 4: 55,383,601 (GRCm39) F278I possibly damaging Het
Saxo2 T C 7: 82,297,613 (GRCm39) I9V probably benign Het
Scn7a T C 2: 66,582,604 (GRCm39) I98V probably benign Het
Serac1 T A 17: 6,124,528 (GRCm39) probably benign Het
Simc1 T C 13: 54,672,473 (GRCm39) C274R probably benign Het
Sirt3 A G 7: 140,444,006 (GRCm39) probably benign Het
Tctn3 A G 19: 40,585,880 (GRCm39) L555P probably damaging Het
Ttc14 A G 3: 33,855,507 (GRCm39) I151V probably benign Het
Ush2a T A 1: 187,995,518 (GRCm39) Y96* probably null Het
Usp42 T C 5: 143,706,970 (GRCm39) T270A possibly damaging Het
Vmn1r31 A G 6: 58,449,784 (GRCm39) I27T probably benign Het
Vmn2r93 G A 17: 18,536,906 (GRCm39) A530T possibly damaging Het
Other mutations in Olfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Olfm1 APN 2 28,104,715 (GRCm39) missense probably damaging 1.00
IGL01358:Olfm1 APN 2 28,119,507 (GRCm39) missense probably damaging 1.00
IGL02076:Olfm1 APN 2 28,112,637 (GRCm39) missense probably damaging 0.99
IGL02337:Olfm1 APN 2 28,119,697 (GRCm39) missense probably damaging 1.00
IGL02693:Olfm1 APN 2 28,102,662 (GRCm39) missense probably damaging 1.00
IGL02825:Olfm1 APN 2 28,119,090 (GRCm39) missense probably damaging 1.00
IGL02974:Olfm1 APN 2 28,119,701 (GRCm39) missense probably damaging 1.00
R0266:Olfm1 UTSW 2 28,119,619 (GRCm39) missense probably damaging 1.00
R0348:Olfm1 UTSW 2 28,102,554 (GRCm39) missense probably benign 0.26
R0411:Olfm1 UTSW 2 28,098,223 (GRCm39) missense possibly damaging 0.51
R0542:Olfm1 UTSW 2 28,104,640 (GRCm39) missense possibly damaging 0.85
R1252:Olfm1 UTSW 2 28,119,447 (GRCm39) missense probably benign 0.01
R1649:Olfm1 UTSW 2 28,119,279 (GRCm39) missense possibly damaging 0.71
R1696:Olfm1 UTSW 2 28,098,128 (GRCm39) nonsense probably null
R1931:Olfm1 UTSW 2 28,112,674 (GRCm39) splice site probably null
R1986:Olfm1 UTSW 2 28,104,718 (GRCm39) missense probably benign 0.13
R3749:Olfm1 UTSW 2 28,098,100 (GRCm39) missense probably damaging 0.96
R3913:Olfm1 UTSW 2 28,098,186 (GRCm39) missense possibly damaging 0.88
R4927:Olfm1 UTSW 2 28,104,798 (GRCm39) missense probably benign 0.18
R4940:Olfm1 UTSW 2 28,112,602 (GRCm39) missense possibly damaging 0.51
R7033:Olfm1 UTSW 2 28,119,348 (GRCm39) missense probably damaging 1.00
R7059:Olfm1 UTSW 2 28,112,628 (GRCm39) missense probably damaging 1.00
R8046:Olfm1 UTSW 2 28,119,135 (GRCm39) missense possibly damaging 0.71
X0018:Olfm1 UTSW 2 28,119,381 (GRCm39) missense possibly damaging 0.51
Posted On 2013-10-07