Incidental Mutation 'IGL02693:Olfm1'
ID 303837
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 # IGL02693
Quality Score
Status
Chromosome 2
Chromosomal Location 28083105-28120748 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 28102662 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 112 (E112G)
Ref Sequence ENSEMBL: ENSMUSP00000097815 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028177] [ENSMUST00000100244] [ENSMUST00000102879] [ENSMUST00000113920]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000028177
AA Change: E140G

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000028177
Gene: ENSMUSG00000026833
AA Change: E140G

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: E112G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097815
Gene: ENSMUSG00000026833
AA Change: E112G

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: ENSMUST00000102879
AA Change: E140G

PolyPhen 2 Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099943
Gene: ENSMUSG00000026833
AA Change: E140G

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:Noelin-1 53 153 4.3e-54 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000113920
AA Change: E97G

PolyPhen 2 Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000109553
Gene: ENSMUSG00000026833
AA Change: E97G

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152415
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: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A830018L16Rik A G 1: 11,666,506 (GRCm39) D271G probably damaging Het
Agl A T 3: 116,540,077 (GRCm39) V1478E possibly damaging Het
Ckap5 C T 2: 91,400,556 (GRCm39) P636L probably damaging Het
Cnot1 A G 8: 96,500,113 (GRCm39) V127A probably damaging Het
Cs A G 10: 128,185,678 (GRCm39) probably benign Het
Fbln1 G A 15: 85,113,775 (GRCm39) E170K probably benign Het
Gm5866 A T 5: 52,740,558 (GRCm39) noncoding transcript Het
Lpin3 T C 2: 160,746,975 (GRCm39) V794A probably damaging Het
Ly86 T G 13: 37,559,005 (GRCm39) I68S probably damaging Het
Mrps34 A G 17: 25,114,172 (GRCm39) I11V probably benign Het
Nsmce4a A G 7: 130,144,538 (GRCm39) S122P probably damaging Het
Or5w20 T G 2: 87,726,877 (GRCm39) C111W probably damaging Het
Parp9 A G 16: 35,777,340 (GRCm39) E428G probably benign Het
Phkb T G 8: 86,668,863 (GRCm39) F297V probably damaging Het
Pianp T G 6: 124,978,598 (GRCm39) F268V possibly damaging Het
Polr1a T C 6: 71,940,830 (GRCm39) probably benign Het
Prune2 G A 19: 17,101,855 (GRCm39) G2453E probably benign Het
Ptpn4 T C 1: 119,643,699 (GRCm39) N350D probably damaging Het
Rbm12 C T 2: 155,937,480 (GRCm39) probably benign Het
Rfc4 A G 16: 22,932,960 (GRCm39) S326P probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Slc35f1 A T 10: 52,809,224 (GRCm39) L70F probably damaging Het
Slc5a7 T C 17: 54,583,947 (GRCm39) T448A probably benign Het
Spata31h1 T C 10: 82,121,092 (GRCm39) I3973V probably benign Het
Spmip9 C A 6: 70,890,488 (GRCm39) R101S possibly damaging Het
Stoml1 T A 9: 58,164,359 (GRCm39) I149N probably damaging Het
Sytl1 A T 4: 132,985,057 (GRCm39) C180S probably benign Het
Traf6 T C 2: 101,518,850 (GRCm39) L113P possibly damaging Het
Trappc9 A G 15: 72,835,542 (GRCm39) probably benign Het
Tubg2 T C 11: 101,051,725 (GRCm39) Y317H probably damaging Het
Zfp334 T C 2: 165,222,433 (GRCm39) T537A possibly 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
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
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 2015-04-16