Incidental Mutation 'IGL01123:Matn1'
ID 50941
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 # IGL01123
Quality Score
Chromosome 4
Chromosomal Location 130944385-130955475 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 130950011 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 177 (I177T)
Ref Sequence ENSEMBL: ENSMUSP00000099636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102576]
AlphaFold P51942
Predicted Effect possibly damaging
Transcript: ENSMUST00000102576
AA Change: I177T

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: I177T

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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310057J18Rik G T 10: 28,973,938 (GRCm38) D167E probably damaging Het
Aadat A T 8: 60,526,614 (GRCm38) E170V probably benign Het
Acsf2 T C 11: 94,570,450 (GRCm38) E300G probably benign Het
Agbl3 C T 6: 34,846,976 (GRCm38) Q859* probably null Het
Arhgap11a T C 2: 113,834,773 (GRCm38) probably benign Het
Arhgef40 C A 14: 51,994,346 (GRCm38) Q730K probably damaging Het
Armc3 C T 2: 19,201,805 (GRCm38) P13L possibly damaging Het
B3gnt2 T A 11: 22,836,490 (GRCm38) T233S probably benign Het
Bnc1 G A 7: 81,973,707 (GRCm38) Q591* probably null Het
Bsn A T 9: 108,115,986 (GRCm38) F856I probably damaging Het
CK137956 T A 4: 127,935,850 (GRCm38) T558S probably benign Het
Coq8b G A 7: 27,240,084 (GRCm38) V180I probably damaging Het
Csmd1 A T 8: 17,534,928 (GRCm38) L16Q possibly damaging Het
Dhx37 A G 5: 125,419,088 (GRCm38) S769P possibly damaging Het
Diras1 T A 10: 81,022,415 (GRCm38) M1L probably damaging Het
Fam161b A G 12: 84,357,664 (GRCm38) W81R probably benign Het
Fat4 A T 3: 38,957,269 (GRCm38) I2173L probably benign Het
Fbn2 T C 18: 58,104,081 (GRCm38) T617A possibly damaging Het
Gabrq G A X: 72,836,833 (GRCm38) D311N probably benign Het
Isl2 G T 9: 55,545,462 (GRCm38) G335C probably damaging Het
Kbtbd7 T C 14: 79,428,612 (GRCm38) V628A probably damaging Het
Kmt2d T C 15: 98,837,148 (GRCm38) M5378V unknown Het
Lrrc23 G T 6: 124,778,819 (GRCm38) D75E probably benign Het
Mab21l3 G A 3: 101,835,130 (GRCm38) T38M probably benign Het
Mtor T C 4: 148,453,037 (GRCm38) S60P probably benign Het
Naip6 T C 13: 100,304,438 (GRCm38) E278G probably benign Het
Nsun6 T C 2: 15,048,978 (GRCm38) I7V possibly damaging Het
Pabpc6 A T 17: 9,668,147 (GRCm38) S492T probably benign Het
Pakap C T 4: 57,757,627 (GRCm38) Q188* probably null Het
Pom121 A T 5: 135,391,706 (GRCm38) V287D unknown Het
Ptprq A T 10: 107,686,218 (GRCm38) F624Y probably damaging Het
Ptprr A G 10: 116,188,317 (GRCm38) T178A probably benign Het
Pygm A G 19: 6,391,394 (GRCm38) N473S probably benign Het
Ros1 A T 10: 52,120,809 (GRCm38) Y1256N probably damaging Het
Scpep1 T C 11: 88,941,328 (GRCm38) N192S possibly damaging Het
Serpina1f A G 12: 103,694,006 (GRCm38) S6P possibly damaging Het
Sgca T A 11: 94,972,287 (GRCm38) Q80L probably damaging Het
Skint6 A G 4: 112,804,682 (GRCm38) L1235P possibly damaging Het
Slc23a2 A C 2: 132,056,816 (GRCm38) N600K probably benign Het
Spata20 T C 11: 94,483,395 (GRCm38) T350A probably benign Het
Syne1 G T 10: 5,344,921 (GRCm38) Y1227* probably null Het
Unc13c T C 9: 73,933,197 (GRCm38) Y124C probably benign Het
Usp40 G A 1: 87,986,123 (GRCm38) T416I probably benign Het
Vmn1r200 T C 13: 22,395,401 (GRCm38) W116R probably benign Het
Vps4a T C 8: 107,039,219 (GRCm38) probably benign Het
Zfyve16 A G 13: 92,492,522 (GRCm38) V1469A probably damaging Het
Other mutations in Matn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00922:Matn1 APN 4 130,952,974 (GRCm38) missense probably benign
IGL01084:Matn1 APN 4 130,951,934 (GRCm38) missense probably benign 0.13
IGL01941:Matn1 APN 4 130,952,261 (GRCm38) splice site probably benign
IGL02289:Matn1 APN 4 130,951,835 (GRCm38) splice site probably benign
IGL02297:Matn1 APN 4 130,952,264 (GRCm38) splice site probably benign
IGL02488:Matn1 APN 4 130,944,493 (GRCm38) missense probably benign 0.20
IGL03493:Matn1 APN 4 130,949,998 (GRCm38) missense probably benign 0.37
R0282:Matn1 UTSW 4 130,945,927 (GRCm38) missense probably damaging 0.98
R0373:Matn1 UTSW 4 130,950,106 (GRCm38) missense probably damaging 1.00
R0384:Matn1 UTSW 4 130,944,476 (GRCm38) missense probably benign 0.20
R1457:Matn1 UTSW 4 130,950,019 (GRCm38) missense possibly damaging 0.89
R3955:Matn1 UTSW 4 130,951,415 (GRCm38) critical splice donor site probably null
R4014:Matn1 UTSW 4 130,951,947 (GRCm38) missense possibly damaging 0.69
R4801:Matn1 UTSW 4 130,950,025 (GRCm38) missense possibly damaging 0.82
R4802:Matn1 UTSW 4 130,950,025 (GRCm38) missense possibly damaging 0.82
R4887:Matn1 UTSW 4 130,952,114 (GRCm38) missense probably benign 0.13
R4961:Matn1 UTSW 4 130,952,923 (GRCm38) missense probably damaging 1.00
R6062:Matn1 UTSW 4 130,951,966 (GRCm38) missense probably benign 0.03
R7868:Matn1 UTSW 4 130,955,000 (GRCm38) missense probably damaging 1.00
R8343:Matn1 UTSW 4 130,945,989 (GRCm38) nonsense probably null
R8530:Matn1 UTSW 4 130,950,136 (GRCm38) nonsense probably null
R8726:Matn1 UTSW 4 130,952,203 (GRCm38) missense probably damaging 1.00
R9430:Matn1 UTSW 4 130,945,967 (GRCm38) missense probably damaging 1.00
Z1176:Matn1 UTSW 4 130,946,105 (GRCm38) missense probably damaging 0.98
Posted On 2013-06-21