Incidental Mutation 'IGL03493:Matn1'
ID490729
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn1
Ensembl Gene ENSMUSG00000040533
Gene Namematrilin 1, cartilage matrix protein
SynonymsMat1, Crtm, CMP, matrilin-1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03493
Quality Score
Status
Chromosome4
Chromosomal Location130944385-130955475 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 130949998 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glycine at position 173 (R173G)
Ref Sequence ENSEMBL: ENSMUSP00000099636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102576]
Predicted Effect probably benign
Transcript: ENSMUST00000102576
AA Change: R173G

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: R173G

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
VWA 43 225 5.5e-52 SMART
EGF 230 267 2.79e-4 SMART
VWA 277 456 1.76e-59 SMART
Matrilin_ccoil 454 500 1.8e-18 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 encodes a member of von Willebrand factor A domain containing protein family. This family of proteins are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. Mutations of this gene have been associated with variety of inherited chondrodysplasias. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are viable, fertile and display normal cartilage development and endochondral bone formation. Mice homozygous for one targeted allele show alterations in type II collagen fibrillogenesis and fibril organization, in the absence of skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aldoart1 G A 4: 72,851,647 T253I probably damaging Het
Ampd2 T C 3: 108,075,358 E694G probably damaging Het
Atcay C A 10: 81,210,573 E306* probably null Het
Atp13a5 G T 16: 29,297,524 D546E probably benign Het
C2cd2 T C 16: 97,881,661 D125G probably damaging Het
Col23a1 T C 11: 51,564,805 probably null Het
Col9a1 T A 1: 24,221,570 probably benign Het
Cyp4a31 T A 4: 115,570,755 probably null Het
Dnah11 G A 12: 118,012,798 R2708C probably benign Het
Dzip3 T C 16: 48,951,696 I537V probably benign Het
Ezh1 T C 11: 101,203,791 T392A probably benign Het
Hsd17b14 A T 7: 45,556,091 D42V probably damaging Het
Hsf2 A T 10: 57,505,366 I294F probably damaging Het
Ibtk G T 9: 85,718,919 S797R probably benign Het
Kif20b T A 19: 34,959,550 C183* probably null Het
Lnpep G T 17: 17,579,171 A74E probably damaging Het
Map4k1 A T 7: 28,984,151 probably benign Het
Nyap1 A G 5: 137,735,016 I585T probably damaging Het
Olfr1167 G A 2: 88,149,936 P28S probably benign Het
Olfr60 A T 7: 140,345,153 Y279N probably damaging Het
Olfr676 A G 7: 105,035,944 T249A probably damaging Het
Phactr2 A G 10: 13,257,669 V190A probably benign Het
Podnl1 G A 8: 84,132,189 V548I probably benign Het
Rad51c A T 11: 87,397,753 H201Q probably benign Het
Sec63 C A 10: 42,828,941 D730E probably benign Het
Smarcc2 A G 10: 128,461,357 I39M probably damaging Het
Trav2 A G 14: 52,567,288 probably benign Het
Ugt3a2 A G 15: 9,361,483 Y115C probably damaging Het
Zfp955b T G 17: 33,302,545 H329Q probably benign Het
Other mutations in Matn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Matn1 APN 4 130952974 missense probably benign
IGL01084:Matn1 APN 4 130951934 missense probably benign 0.13
IGL01123:Matn1 APN 4 130950011 missense possibly damaging 0.72
IGL01941:Matn1 APN 4 130952261 splice site probably benign
IGL02289:Matn1 APN 4 130951835 splice site probably benign
IGL02297:Matn1 APN 4 130952264 splice site probably benign
IGL02488:Matn1 APN 4 130944493 missense probably benign 0.20
R0282:Matn1 UTSW 4 130945927 missense probably damaging 0.98
R0373:Matn1 UTSW 4 130950106 missense probably damaging 1.00
R0384:Matn1 UTSW 4 130944476 missense probably benign 0.20
R1457:Matn1 UTSW 4 130950019 missense possibly damaging 0.89
R3955:Matn1 UTSW 4 130951415 critical splice donor site probably null
R4014:Matn1 UTSW 4 130951947 missense possibly damaging 0.69
R4801:Matn1 UTSW 4 130950025 missense possibly damaging 0.82
R4802:Matn1 UTSW 4 130950025 missense possibly damaging 0.82
R4887:Matn1 UTSW 4 130952114 missense probably benign 0.13
R4961:Matn1 UTSW 4 130952923 missense probably damaging 1.00
R6062:Matn1 UTSW 4 130951966 missense probably benign 0.03
Posted On2017-10-20