Incidental Mutation 'IGL02488:Matn1'
ID 295508
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 # IGL02488
Quality Score
Status
Chromosome 4
Chromosomal Location 130671696-130682786 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 130671804 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 24 (V24F)
Ref Sequence ENSEMBL: ENSMUSP00000099636 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102576]
AlphaFold P51942
Predicted Effect probably benign
Transcript: ENSMUST00000102576
AA Change: V24F

PolyPhen 2 Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000099636
Gene: ENSMUSG00000040533
AA Change: V24F

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 C T 8: 25,282,022 (GRCm39) D417N probably damaging Het
Akr1d1 A T 6: 37,544,095 (GRCm39) E324D probably benign Het
Ankrd34a A G 3: 96,506,229 (GRCm39) I478V probably benign Het
C8b A G 4: 104,661,278 (GRCm39) H498R probably benign Het
Cct6a T G 5: 129,866,885 (GRCm39) probably benign Het
Enpp7 C A 11: 118,879,640 (GRCm39) T98N probably damaging Het
Fcna A T 2: 25,515,223 (GRCm39) probably null Het
Gtdc1 A G 2: 44,715,451 (GRCm39) Y31H probably benign Het
Gzme A T 14: 56,355,849 (GRCm39) N154K probably benign Het
Hectd4 T C 5: 121,430,150 (GRCm39) V849A probably benign Het
Hps1 C T 19: 42,746,227 (GRCm39) probably benign Het
Incenp A T 19: 9,870,771 (GRCm39) I286N unknown Het
Mcm3ap A G 10: 76,335,483 (GRCm39) T1302A probably damaging Het
Megf10 A G 18: 57,425,704 (GRCm39) Y1030C probably damaging Het
Mpdu1 T C 11: 69,549,435 (GRCm39) T87A probably damaging Het
Or1j18 T A 2: 36,624,362 (GRCm39) S10T probably benign Het
Or52h1 T A 7: 103,829,478 (GRCm39) I46F possibly damaging Het
Pde6h A G 6: 136,940,264 (GRCm39) probably null Het
Pkhd1l1 A G 15: 44,421,993 (GRCm39) I3088V probably benign Het
Plec G T 15: 76,063,359 (GRCm39) T2259K possibly damaging Het
Ptch2 C T 4: 116,967,593 (GRCm39) R754C probably damaging Het
Ptpn12 T C 5: 21,227,060 (GRCm39) T81A possibly damaging Het
Sars2 C T 7: 28,441,585 (GRCm39) R49* probably null Het
Scyl1 G T 19: 5,820,341 (GRCm39) Y164* probably null Het
Smarcd1 T C 15: 99,609,082 (GRCm39) C419R possibly damaging Het
Syne2 C A 12: 76,012,512 (GRCm39) R2568S probably benign Het
Tap2 A G 17: 34,433,616 (GRCm39) probably benign Het
Thrb T A 14: 18,033,455 (GRCm38) I406K probably damaging Het
Tnn T A 1: 159,968,163 (GRCm39) I410F probably benign Het
Tns2 T C 15: 102,021,178 (GRCm39) S940P probably benign Het
Trav6-2 A G 14: 52,905,243 (GRCm39) K88R probably benign Het
Ttbk2 T C 2: 120,586,352 (GRCm39) M386V probably benign Het
Vldlr A G 19: 27,215,675 (GRCm39) E224G probably damaging Het
Vmn1r46 T A 6: 89,953,963 (GRCm39) C271S probably benign Het
Zfhx2 T C 14: 55,302,560 (GRCm39) E1808G possibly damaging Het
Zfp385a A G 15: 103,228,733 (GRCm39) I42T probably damaging 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
IGL02297:Matn1 APN 4 130,679,575 (GRCm39) splice site probably benign
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