Incidental Mutation 'IGL02076:Olfm1'
ID 185991
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 # IGL02076
Quality Score
Status
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28112637 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 223 (T223A)
Ref Sequence ENSEMBL: ENSMUSP00000097815 (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: T251A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: T251A

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: T223A

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: T223A

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 possibly damaging
Transcript: ENSMUST00000113920
AA Change: T208A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: T208A

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: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T C 5: 8,186,900 (GRCm39) Y407C probably damaging Het
Capn5 T A 7: 97,780,950 (GRCm39) K276* probably null Het
Cct4 T C 11: 22,952,394 (GRCm39) V495A probably damaging Het
Dapk3 A G 10: 81,026,131 (GRCm39) K141E probably damaging Het
Dnah2 T C 11: 69,313,385 (GRCm39) N4264S probably damaging Het
Dok1 A G 6: 83,009,812 (GRCm39) L99P probably damaging Het
Ebf3 A G 7: 136,833,030 (GRCm39) V215A possibly damaging Het
Efnb2 A G 8: 8,710,488 (GRCm39) S43P probably benign Het
Jhy G A 9: 40,828,674 (GRCm39) Q411* probably null Het
Krt73 G A 15: 101,708,370 (GRCm39) T229I probably damaging Het
Mroh8 A G 2: 157,113,882 (GRCm39) probably null Het
Oprk1 T A 1: 5,672,512 (GRCm39) D216E probably damaging Het
Or4b1d T A 2: 89,969,159 (GRCm39) E108V probably damaging Het
Or8g23 A G 9: 38,971,881 (GRCm39) L27P probably damaging Het
Pim1 T A 17: 29,712,777 (GRCm39) I230N probably damaging Het
Ppm1f A C 16: 16,732,035 (GRCm39) T162P possibly damaging Het
Rbbp8 T C 18: 11,838,876 (GRCm39) Y186H probably damaging Het
Sema4a C T 3: 88,357,829 (GRCm39) R225H probably damaging Het
Slc15a2 A C 16: 36,582,743 (GRCm39) F215C probably damaging Het
Slc25a1 A G 16: 17,745,490 (GRCm39) C41R possibly damaging Het
Stil C A 4: 114,880,834 (GRCm39) H459Q probably benign Het
Tbc1d32 A G 10: 55,964,499 (GRCm39) I900T possibly damaging Het
Tmem33 T C 5: 67,443,446 (GRCm39) F208L probably damaging Het
Utp25 T C 1: 192,812,367 (GRCm39) H31R probably damaging Het
Vmn2r72 A G 7: 85,387,575 (GRCm39) V663A probably damaging Het
Other mutations in Olfm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01293:Olfm1 APN 2 28,104,715 (GRCm39) missense probably damaging 1.00
IGL01326:Olfm1 APN 2 28,119,564 (GRCm39) missense probably damaging 1.00
IGL01358:Olfm1 APN 2 28,119,507 (GRCm39) missense probably damaging 1.00
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 2014-05-07