Incidental Mutation 'IGL00091:Ogn'
ID1024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ogn
Ensembl Gene ENSMUSG00000021390
Gene Nameosteoglycin
Synonymsmimecan, SLRR3A, OG, 3110079A16Rik, mimican
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.224) question?
Stock #IGL00091
Quality Score
Status
Chromosome13
Chromosomal Location49608046-49624501 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 49621038 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 219 (Y219C)
Ref Sequence ENSEMBL: ENSMUSP00000021822 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021818] [ENSMUST00000021822]
Predicted Effect probably benign
Transcript: ENSMUST00000021818
SMART Domains Protein: ENSMUSP00000021818
Gene: ENSMUSG00000021391

DomainStartEndE-ValueType
coiled coil region 1 34 N/A INTRINSIC
Pfam:CENP-P 102 278 3.9e-89 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000021822
AA Change: Y219C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000021822
Gene: ENSMUSG00000021390
AA Change: Y219C

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
LRRNT 93 123 3.52e0 SMART
LRR_TYP 142 165 4.4e-2 SMART
LRR 166 187 1.33e2 SMART
LRR 212 235 3.78e-1 SMART
LRR 236 256 5.27e1 SMART
low complexity region 263 271 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221751
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 small leucine-rich proteoglycan (SLRP) family of proteins. The encoded protein induces ectopic bone formation in conjunction with transforming growth factor beta and may regulate osteoblast differentiation. High expression of the encoded protein may be associated with elevated heart left ventricular mass. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
PHENOTYPE: Mice homozygous for a disruption in this gene display reduced collagen fiber density and organization, as well as more variability in fibrilar diameter in both the skin and the cornea. Corneal clarity was unaffected whereas skin tensile strength was reduced. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abraxas2 A T 7: 132,883,428 Y400F probably benign Het
Adamts8 C A 9: 30,953,500 T429K probably damaging Het
Adgrv1 C T 13: 81,578,101 D602N probably damaging Het
Ano7 A T 1: 93,402,166 H775L probably benign Het
Apoo-ps A T 13: 107,414,634 noncoding transcript Het
Arid2 T C 15: 96,372,302 V1432A probably benign Het
Atoh1 T C 6: 64,729,584 S88P possibly damaging Het
C130050O18Rik A G 5: 139,414,846 E218G probably damaging Het
Cacna2d1 T A 5: 16,212,944 F155L probably damaging Het
Car4 C T 11: 84,965,767 P294S probably damaging Het
Cyp1a2 G T 9: 57,682,069 S154* probably null Het
Cyp3a25 A T 5: 146,001,463 Y68* probably null Het
Dmbt1 C A 7: 131,079,540 probably benign Het
Dnajc22 T A 15: 99,101,178 F81L possibly damaging Het
Eml5 G A 12: 98,873,209 probably benign Het
Fpgs A T 2: 32,686,547 probably benign Het
Gab2 T C 7: 97,302,443 S537P possibly damaging Het
Gmds G A 13: 32,234,390 S37L probably damaging Het
Ipo13 T C 4: 117,903,405 E626G probably benign Het
Kcng1 T C 2: 168,268,764 H160R probably benign Het
Lama3 A G 18: 12,580,292 T1608A probably benign Het
Lama4 A C 10: 39,072,805 S855R probably damaging Het
Ltbp1 C T 17: 75,225,338 H454Y probably damaging Het
Map3k14 C A 11: 103,227,579 G594C probably damaging Het
Mcph1 A G 8: 18,632,620 N591S possibly damaging Het
Moxd1 G A 10: 24,279,864 V289I probably damaging Het
Mptx2 T G 1: 173,274,888 N78T probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Muc6 A C 7: 141,638,584 S2059A probably benign Het
Nup50 T A 15: 84,935,404 F293Y probably benign Het
Pdia3 T C 2: 121,414,178 L47P probably damaging Het
Piwil4 A T 9: 14,703,097 D786E probably damaging Het
Pspc1 A G 14: 56,771,711 L222P probably damaging Het
Ptchd3 T A 11: 121,831,146 Y282N probably damaging Het
Reln C A 5: 22,039,565 G805V possibly damaging Het
Serpini2 T C 3: 75,249,242 Y327C probably damaging Het
Spire2 A G 8: 123,354,059 D14G probably damaging Het
Stab2 A T 10: 86,869,206 probably null Het
Timeless T C 10: 128,241,708 L219P probably damaging Het
Tmem63a C T 1: 180,963,088 T437M probably damaging Het
Tslp A G 18: 32,815,395 probably benign Het
Ttbk2 C A 2: 120,748,833 G534* probably null Het
Uggt1 T C 1: 36,179,552 probably benign Het
Vmn2r118 T C 17: 55,592,708 E732G probably damaging Het
Zfhx2 G A 14: 55,066,565 P1321S possibly damaging Het
Zfp58 A G 13: 67,490,995 V459A probably benign Het
Zfp831 T C 2: 174,645,658 S709P possibly damaging Het
Other mutations in Ogn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00475:Ogn APN 13 49622915 missense probably benign 0.01
IGL01830:Ogn APN 13 49609247 nonsense probably null
R0116:Ogn UTSW 13 49621038 missense possibly damaging 0.89
R1546:Ogn UTSW 13 49609333 missense probably benign 0.00
R1554:Ogn UTSW 13 49621044 missense probably benign 0.00
R3752:Ogn UTSW 13 49622831 missense probably benign 0.44
R4005:Ogn UTSW 13 49609299 missense possibly damaging 0.82
R5323:Ogn UTSW 13 49609341 missense probably benign 0.00
R5946:Ogn UTSW 13 49618285 missense probably benign 0.01
R7854:Ogn UTSW 13 49621038 missense possibly damaging 0.89
R7970:Ogn UTSW 13 49609266 missense probably benign
R8426:Ogn UTSW 13 49621091 missense possibly damaging 0.80
Posted On2011-07-12