Incidental Mutation 'IGL00922:Matn1'
ID 27242
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn1
Ensembl Gene ENSMUSG00000040533
Gene Name matrilin 1, cartilage matrix protein
Synonyms Mat1, Crtm, CMP, matrilin-1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00922
Quality Score
Status
Chromosome 4
Chromosomal Location 130944385-130955475 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 130952974 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Glutamine to Leucine at position 454 (Q454L)
Ref Sequence ENSEMBL: ENSMUSP00000099636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102576]
AlphaFold P51942
Predicted Effect probably benign
Transcript: ENSMUST00000102576
AA Change: Q454L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: Q454L

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210016L21Rik T C 5: 114,947,177 probably null Het
Atr T A 9: 95,907,345 M1518K probably damaging Het
Baiap2l1 C T 5: 144,318,967 G59D probably damaging Het
BC051019 C A 7: 109,720,676 C60F probably benign Het
Brms1l A G 12: 55,845,326 Y135C probably benign Het
Cachd1 T A 4: 100,966,966 S535T probably benign Het
Ccdc155 T C 7: 45,185,306 E532G possibly damaging Het
Chkb C T 15: 89,422,288 probably null Het
Coa7 G T 4: 108,338,308 G145C possibly damaging Het
Cobl T A 11: 12,254,866 D605V probably damaging Het
Ddx54 T A 5: 120,623,810 probably null Het
Dnah6 A T 6: 73,033,526 probably benign Het
Dnaja2 A T 8: 85,555,237 V4E probably damaging Het
Dnajc22 T G 15: 99,101,579 L215R possibly damaging Het
Drc7 G A 8: 95,077,978 V874I probably benign Het
Foxa2 A C 2: 148,044,818 S26A possibly damaging Het
Gal A T 19: 3,411,575 V70E probably benign Het
Gjb4 T C 4: 127,351,353 Y265C probably benign Het
Hc A G 2: 34,991,668 S1423P probably damaging Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Map3k6 C T 4: 133,243,044 probably benign Het
Mlxip A T 5: 123,440,065 N148I probably damaging Het
Mre11a T C 9: 14,799,588 F193L probably damaging Het
Myo1h T C 5: 114,360,485 Y881H probably damaging Het
Nphp4 C T 4: 152,537,309 probably benign Het
Olfr803 T G 10: 129,691,454 I196L probably benign Het
Ptpn13 T A 5: 103,588,088 V2151D probably damaging Het
Rnf141 T C 7: 110,833,734 probably benign Het
Rpe65 A C 3: 159,614,542 D277A probably damaging Het
Sec14l1 C T 11: 117,153,229 T521M possibly damaging Het
Slc25a30 A T 14: 75,769,598 Y153N probably damaging Het
Slc6a12 C T 6: 121,360,455 A366V probably damaging Het
Trp53bp1 T A 2: 121,208,482 T1367S probably damaging Het
Vmn2r71 T G 7: 85,618,693 S118R probably benign Het
Other mutations in Matn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
IGL03493:Matn1 APN 4 130949998 missense probably benign 0.37
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
R7868:Matn1 UTSW 4 130955000 missense probably damaging 1.00
R8343:Matn1 UTSW 4 130945989 nonsense probably null
R8530:Matn1 UTSW 4 130950136 nonsense probably null
R8726:Matn1 UTSW 4 130952203 missense probably damaging 1.00
R9430:Matn1 UTSW 4 130945967 missense probably damaging 1.00
Z1176:Matn1 UTSW 4 130946105 missense probably damaging 0.98
Posted On 2013-04-17