Incidental Mutation 'IGL02297:Matn1'
ID 290214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn1
Ensembl Gene ENSMUSG00000040533
Gene Name matrilin 1, cartilage matrix protein
Synonyms Mat1, CMP, Crtm, matrilin-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02297
Quality Score
Status
Chromosome 4
Chromosomal Location 130671696-130682786 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 130679575 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000099636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102576]
AlphaFold P51942
Predicted Effect probably benign
Transcript: ENSMUST00000102576
SMART Domains Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533

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: 18 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aifm2 C T 10: 61,571,327 (GRCm39) A287V possibly damaging Het
Aqr A G 2: 113,980,962 (GRCm39) I273T probably benign Het
Arid3c T C 4: 41,730,021 (GRCm39) E58G possibly damaging Het
Col5a3 G T 9: 20,683,450 (GRCm39) T1574K unknown Het
Dbh T C 2: 27,067,748 (GRCm39) V457A probably benign Het
Gm12888 T C 4: 121,181,996 (GRCm39) E32G probably damaging Het
Gnaq A G 19: 16,355,615 (GRCm39) D277G probably damaging Het
Il20 G A 1: 130,836,145 (GRCm39) H133Y probably damaging Het
Itpr1 T A 6: 108,316,478 (GRCm39) F58L possibly damaging Het
Lynx1 G T 15: 74,623,491 (GRCm39) Q19K probably benign Het
Lyst G T 13: 13,812,677 (GRCm39) E1030* probably null Het
Nav2 A T 7: 49,243,977 (GRCm39) N2068I probably damaging Het
Or5b3 C T 19: 13,388,839 (GRCm39) T302I probably benign Het
Or8g30 T C 9: 39,229,999 (GRCm39) I304V possibly damaging Het
Slc25a23 G T 17: 57,360,324 (GRCm39) Q273K probably benign Het
Slco4a1 T G 2: 180,106,282 (GRCm39) C155G probably benign Het
Txnip T C 3: 96,465,673 (GRCm39) V41A probably damaging Het
Wnt16 C A 6: 22,297,990 (GRCm39) Y285* probably null Het
Other mutations in Matn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Matn1 APN 4 130,680,285 (GRCm39) missense probably benign
IGL01084:Matn1 APN 4 130,679,245 (GRCm39) missense probably benign 0.13
IGL01123:Matn1 APN 4 130,677,322 (GRCm39) missense possibly damaging 0.72
IGL01941:Matn1 APN 4 130,679,572 (GRCm39) splice site probably benign
IGL02289:Matn1 APN 4 130,679,146 (GRCm39) splice site probably benign
IGL02488:Matn1 APN 4 130,671,804 (GRCm39) missense probably benign 0.20
IGL03493:Matn1 APN 4 130,677,309 (GRCm39) missense probably benign 0.37
R0282:Matn1 UTSW 4 130,673,238 (GRCm39) missense probably damaging 0.98
R0373:Matn1 UTSW 4 130,677,417 (GRCm39) missense probably damaging 1.00
R0384:Matn1 UTSW 4 130,671,787 (GRCm39) missense probably benign 0.20
R1457:Matn1 UTSW 4 130,677,330 (GRCm39) missense possibly damaging 0.89
R3955:Matn1 UTSW 4 130,678,726 (GRCm39) critical splice donor site probably null
R4014:Matn1 UTSW 4 130,679,258 (GRCm39) missense possibly damaging 0.69
R4801:Matn1 UTSW 4 130,677,336 (GRCm39) missense possibly damaging 0.82
R4802:Matn1 UTSW 4 130,677,336 (GRCm39) missense possibly damaging 0.82
R4887:Matn1 UTSW 4 130,679,425 (GRCm39) missense probably benign 0.13
R4961:Matn1 UTSW 4 130,680,234 (GRCm39) missense probably damaging 1.00
R6062:Matn1 UTSW 4 130,679,277 (GRCm39) missense probably benign 0.03
R7868:Matn1 UTSW 4 130,682,311 (GRCm39) missense probably damaging 1.00
R8343:Matn1 UTSW 4 130,673,300 (GRCm39) nonsense probably null
R8530:Matn1 UTSW 4 130,677,447 (GRCm39) nonsense probably null
R8726:Matn1 UTSW 4 130,679,514 (GRCm39) missense probably damaging 1.00
R9430:Matn1 UTSW 4 130,673,278 (GRCm39) missense probably damaging 1.00
Z1176:Matn1 UTSW 4 130,673,416 (GRCm39) missense probably damaging 0.98
Posted On 2015-04-16