Incidental Mutation 'IGL03023:Comp'
ID408054
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Comp
Ensembl Gene ENSMUSG00000031849
Gene Namecartilage oligomeric matrix protein
Synonymsthrombospondin-5, TSP5
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.451) question?
Stock #IGL03023
Quality Score
Status
Chromosome8
Chromosomal Location70373558-70382066 bp(+) (GRCm38)
Type of Mutationunclassified
DNA Base Change (assembly) T to C at 70378610 bp
ZygosityHeterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000003659] [ENSMUST00000076615]
Predicted Effect probably benign
Transcript: ENSMUST00000003659
SMART Domains Protein: ENSMUSP00000003659
Gene: ENSMUSG00000031849

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:COMP 28 72 6.2e-22 PFAM
EGF 88 124 8.19e-2 SMART
EGF_CA 125 177 5.08e-7 SMART
EGF_CA 178 220 1.73e-9 SMART
EGF 226 265 7.53e-1 SMART
Pfam:TSP_3 299 334 6.1e-16 PFAM
Pfam:TSP_3 358 393 1.2e-15 PFAM
Pfam:TSP_3 393 416 2.7e-6 PFAM
Pfam:TSP_3 417 454 1.6e-14 PFAM
Pfam:TSP_3 455 490 3.7e-14 PFAM
Pfam:TSP_3 491 526 6.1e-15 PFAM
Pfam:TSP_C 544 741 2.6e-101 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000076615
SMART Domains Protein: ENSMUSP00000075916
Gene: ENSMUSG00000003575

DomainStartEndE-ValueType
Pfam:TORC_N 6 66 1.1e-26 PFAM
Pfam:TORC_M 148 289 4.8e-64 PFAM
low complexity region 359 394 N/A INTRINSIC
Pfam:TORC_C 555 630 9.2e-36 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142769
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212439
Predicted Effect probably benign
Transcript: ENSMUST00000212488
Predicted Effect probably benign
Transcript: ENSMUST00000213072
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a noncollagenous extracellular matrix (ECM) protein. It consists of five identical glycoprotein subunits, each with EGF-like and calcium-binding (thrombospondin-like) domains. Oligomerization results from formation of a five-stranded coiled coil and disulfides. Binding to other ECM proteins such as collagen appears to depend on divalent cations. Contraction or expansion of a 5 aa aspartate repeat and other mutations can cause pseudochondroplasia (PSACH) and multiple epiphyseal dysplasia (MED). [provided by RefSeq, Jul 2016]
PHENOTYPE: Mice homozygous for a targeted null mutation are indistinguishable from controls. Mice homozygous for a knockin allele with two point mutations exhibit short limb dwarfism, osteoarthritis, abnormal chondrocytes, mild myopathy, and abnormal tendon morphology and stiffness. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Cyp2d9 A G 15: 82,455,518 T313A probably damaging Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Comp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Comp APN 8 70378635 missense probably damaging 1.00
IGL02110:Comp APN 8 70373639 missense probably benign 0.08
IGL02721:Comp APN 8 70376081 missense probably damaging 1.00
IGL02812:Comp APN 8 70376687 missense possibly damaging 0.75
IGL03047:Comp UTSW 8 70374909 missense possibly damaging 0.65
R0217:Comp UTSW 8 70378908 missense probably damaging 1.00
R0503:Comp UTSW 8 70375734 missense possibly damaging 0.58
R0659:Comp UTSW 8 70379101 missense possibly damaging 0.84
R1490:Comp UTSW 8 70373913 missense possibly damaging 0.63
R1663:Comp UTSW 8 70373600 missense possibly damaging 0.93
R1666:Comp UTSW 8 70378957 splice site probably null
R1668:Comp UTSW 8 70378957 splice site probably null
R1789:Comp UTSW 8 70377146 missense probably benign 0.01
R2096:Comp UTSW 8 70376063 missense probably damaging 1.00
R2157:Comp UTSW 8 70379570 nonsense probably null
R3836:Comp UTSW 8 70373859 missense probably benign 0.26
R4630:Comp UTSW 8 70374382 missense possibly damaging 0.94
R4743:Comp UTSW 8 70376061 missense probably damaging 1.00
R4747:Comp UTSW 8 70376702 missense probably damaging 1.00
R5028:Comp UTSW 8 70376640 missense probably damaging 0.99
R5070:Comp UTSW 8 70376495 missense probably benign 0.25
R5083:Comp UTSW 8 70381300 missense probably damaging 1.00
R5917:Comp UTSW 8 70376361 splice site probably null
R6705:Comp UTSW 8 70376737 missense probably damaging 0.98
R6965:Comp UTSW 8 70376514 missense probably damaging 1.00
Posted On2016-08-02