Incidental Mutation 'IGL02130:Olfml3'
ID 281005
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Olfml3
Ensembl Gene ENSMUSG00000027848
Gene Name olfactomedin-like 3
Synonyms HNOEL-iso, mONT3, ONT3, 2810002E22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02130
Quality Score
Status
Chromosome 3
Chromosomal Location 103642710-103645317 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 103644283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 129 (Y129H)
Ref Sequence ENSEMBL: ENSMUSP00000029440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029440] [ENSMUST00000106852] [ENSMUST00000118317] [ENSMUST00000169286]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000029440
AA Change: Y129H

PolyPhen 2 Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000029440
Gene: ENSMUSG00000027848
AA Change: Y129H

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
low complexity region 31 42 N/A INTRINSIC
Blast:OLF 65 133 8e-34 BLAST
OLF 137 401 9.22e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106852
Predicted Effect probably benign
Transcript: ENSMUST00000118317
SMART Domains Protein: ENSMUSP00000113998
Gene: ENSMUSG00000008730

DomainStartEndE-ValueType
low complexity region 3 21 N/A INTRINSIC
low complexity region 87 99 N/A INTRINSIC
low complexity region 151 170 N/A INTRINSIC
S_TKc 190 518 3.39e-76 SMART
low complexity region 586 603 N/A INTRINSIC
low complexity region 679 695 N/A INTRINSIC
low complexity region 941 959 N/A INTRINSIC
low complexity region 1047 1063 N/A INTRINSIC
low complexity region 1095 1111 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154145
Predicted Effect noncoding transcript
Transcript: ENSMUST00000157042
Predicted Effect probably benign
Transcript: ENSMUST00000169286
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 encodes a member of the olfactomedin-like gene family which also includes genes encoding noelin, tiarin, myocilin, amassin, optimedin, photomedin, and latrophilin. The encoded protein is a secreted extracellular matrix glycoprotein with a C-terminal olfactomedin domain that facilitates protein-protein interactions, cell adhesion, and intercellular interactions. It serves as both a scaffold protein that recruits bone morphogenetic protein 1 to its substrate chordin, and as a vascular tissue remodeler with pro-angiogenic properties. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2017]
PHENOTYPE: Mice homozygous for a disruption in this gene appear normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn7l1 A T 12: 33,392,141 (GRCm39) K239M probably damaging Het
Cep164 T C 9: 45,691,090 (GRCm39) E1230G possibly damaging Het
Fas A G 19: 34,292,695 (GRCm39) T101A probably benign Het
Fcnb A G 2: 27,974,801 (GRCm39) probably null Het
Gm14325 A G 2: 177,476,445 (GRCm39) probably benign Het
Gm4877 A T 6: 42,496,991 (GRCm39) noncoding transcript Het
Heyl T C 4: 123,140,064 (GRCm39) S208P probably benign Het
Ighv10-3 A T 12: 114,487,121 (GRCm39) L100H probably damaging Het
Irs1 T C 1: 82,267,188 (GRCm39) S343G probably damaging Het
Lrriq4 T A 3: 30,704,896 (GRCm39) V293E probably damaging Het
Mbd3l1 A T 9: 18,396,023 (GRCm39) R49S probably damaging Het
Mdga1 A G 17: 30,076,643 (GRCm39) I43T possibly damaging Het
N4bp3 T C 11: 51,534,773 (GRCm39) E430G possibly damaging Het
Or4c125 C A 2: 89,169,927 (GRCm39) V240F probably damaging Het
Or8b12i A G 9: 20,082,654 (GRCm39) I71T probably damaging Het
Prex2 T C 1: 11,183,023 (GRCm39) V424A probably damaging Het
Prex2 T A 1: 11,230,386 (GRCm39) V804E probably damaging Het
Rnf103 T C 6: 71,486,548 (GRCm39) L393S probably damaging Het
Rnf20 T C 4: 49,644,481 (GRCm39) probably benign Het
Slc25a16 A G 10: 62,780,137 (GRCm39) I299V probably benign Het
Tmprss2 A T 16: 97,392,089 (GRCm39) C5S probably damaging Het
Trpv3 A C 11: 73,170,596 (GRCm39) M159L probably benign Het
Vmn2r45 A T 7: 8,486,556 (GRCm39) M244K possibly damaging Het
Other mutations in Olfml3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00428:Olfml3 APN 3 103,644,298 (GRCm39) splice site probably null
R0133:Olfml3 UTSW 3 103,644,342 (GRCm39) splice site probably null
R0427:Olfml3 UTSW 3 103,644,330 (GRCm39) missense probably benign 0.27
R2130:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R2131:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R2133:Olfml3 UTSW 3 103,643,185 (GRCm39) missense probably benign 0.05
R4688:Olfml3 UTSW 3 103,639,497 (GRCm39) utr 3 prime probably benign
R5211:Olfml3 UTSW 3 103,644,515 (GRCm39) missense probably benign
R5227:Olfml3 UTSW 3 103,643,737 (GRCm39) missense possibly damaging 0.86
R6223:Olfml3 UTSW 3 103,643,776 (GRCm39) missense probably damaging 1.00
R6493:Olfml3 UTSW 3 103,643,523 (GRCm39) missense possibly damaging 0.61
R7128:Olfml3 UTSW 3 103,644,484 (GRCm39) missense probably benign
R7191:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7224:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7298:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7299:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7300:Olfml3 UTSW 3 103,643,176 (GRCm39) missense probably damaging 0.99
R7355:Olfml3 UTSW 3 103,643,395 (GRCm39) missense probably damaging 1.00
R9452:Olfml3 UTSW 3 103,643,575 (GRCm39) missense probably benign 0.00
R9568:Olfml3 UTSW 3 103,644,282 (GRCm39) missense possibly damaging 0.89
X0058:Olfml3 UTSW 3 103,639,432 (GRCm39) utr 3 prime probably benign
Posted On 2015-04-16