Incidental Mutation 'IGL02442:Matn3'
ID 293477
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn3
Ensembl Gene ENSMUSG00000020583
Gene Name matrilin 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.108) question?
Stock # IGL02442
Quality Score
Status
Chromosome 12
Chromosomal Location 8947929-8972028 bp(+) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 8967678 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 443 (C443*)
Ref Sequence ENSEMBL: ENSMUSP00000020899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020899]
AlphaFold O35701
Predicted Effect probably null
Transcript: ENSMUST00000020899
AA Change: C443*
SMART Domains Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: C443*

DomainStartEndE-ValueType
signal peptide 1 27 N/A INTRINSIC
VWA 76 255 5.06e-51 SMART
EGF 257 300 2.02e-1 SMART
EGF 304 342 4.1e-2 SMART
EGF 346 384 4.22e-4 SMART
EGF 388 426 1.21e-4 SMART
Matrilin_ccoil 433 479 8.93e-14 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 is thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This protein contains two von Willebrand factor A domains; it is present in the cartilage extracellular matrix and has a role in the development and homeostasis of cartilage and bone. Mutations in this gene result in multiple epiphyseal dysplasia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006E09Rik T C 11: 101,990,826 V116A probably benign Het
Adap2 A G 11: 80,177,206 E348G probably damaging Het
Ahnak G A 19: 9,004,016 G888D probably damaging Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Csde1 T C 3: 103,054,819 C649R probably benign Het
Cym A C 3: 107,214,285 D230E probably damaging Het
Dnah1 A T 14: 31,287,878 I1911N probably damaging Het
Fam60a A T 6: 148,928,507 probably null Het
Fat1 A G 8: 44,950,323 H37R probably benign Het
Ggt6 T C 11: 72,436,806 V146A possibly damaging Het
Glud1 T A 14: 34,335,438 L54* probably null Het
Grk6 A G 13: 55,458,937 probably benign Het
Gsta4 G A 9: 78,209,165 V219I probably benign Het
Gucy1a2 G A 9: 3,865,385 V620M probably damaging Het
Hspe1 T C 1: 55,089,042 probably benign Het
Icmt T C 4: 152,298,716 V76A possibly damaging Het
Ifrd1 A G 12: 40,216,317 probably benign Het
Lgals12 T C 19: 7,606,654 probably benign Het
Lypla1 T C 1: 4,832,387 probably benign Het
Map1b A T 13: 99,508,198 W66R probably damaging Het
Mup8 T A 4: 60,219,695 R191W probably damaging Het
Mycbp2 T C 14: 103,314,375 K140R probably benign Het
Ndfip1 C T 18: 38,447,736 S66L probably damaging Het
Neu1 A G 17: 34,934,469 I323V probably benign Het
Nup205 A T 6: 35,190,068 T341S probably benign Het
Olfr1303 G A 2: 111,813,991 T245I probably benign Het
Olfr1466 T A 19: 13,342,120 C121S probably benign Het
Olfr1469 T A 19: 13,410,987 N139K probably benign Het
Ovch2 T A 7: 107,796,548 I88F possibly damaging Het
Pkd1 T A 17: 24,565,226 S249T probably benign Het
Plekhg3 A T 12: 76,578,353 Q1324L probably benign Het
Ppara T A 15: 85,801,143 V431E probably benign Het
Prkaa1 T G 15: 5,176,888 H408Q probably damaging Het
Sap25 T A 5: 137,641,995 N108K probably benign Het
Setd5 A C 6: 113,110,380 I81L possibly damaging Het
Sri T A 5: 8,062,411 M78K probably damaging Het
Tyro3 A G 2: 119,808,868 N352S probably benign Het
Ubr5 T A 15: 38,037,901 E332V possibly damaging Het
Vmn2r19 G T 6: 123,309,662 V85F possibly damaging Het
Vmn2r53 A T 7: 12,581,729 V721D probably damaging Het
Vwa5a A G 9: 38,734,784 M483V probably benign Het
Zfp786 T A 6: 47,821,367 Q212H probably benign Het
Other mutations in Matn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01814:Matn3 APN 12 8952091 missense probably damaging 0.98
IGL02138:Matn3 APN 12 8967638 missense possibly damaging 0.93
IGL02736:Matn3 APN 12 8955422 missense possibly damaging 0.53
R0091:Matn3 UTSW 12 8952105 missense probably damaging 0.98
R0585:Matn3 UTSW 12 8961103 splice site probably benign
R0615:Matn3 UTSW 12 8963594 missense probably damaging 1.00
R1424:Matn3 UTSW 12 8961132 missense possibly damaging 0.91
R1571:Matn3 UTSW 12 8955466 missense probably damaging 1.00
R1844:Matn3 UTSW 12 8967662 missense possibly damaging 0.90
R1865:Matn3 UTSW 12 8952041 missense probably damaging 1.00
R1977:Matn3 UTSW 12 8961110 splice site probably benign
R3015:Matn3 UTSW 12 8952217 missense probably damaging 0.97
R3018:Matn3 UTSW 12 8963578 missense probably benign 0.02
R5180:Matn3 UTSW 12 8955374 missense probably benign 0.38
R5308:Matn3 UTSW 12 8952308 frame shift probably null
R5616:Matn3 UTSW 12 8948195 missense probably benign
R5816:Matn3 UTSW 12 8970571 missense probably damaging 1.00
R5849:Matn3 UTSW 12 8958829 missense probably benign 0.10
R7065:Matn3 UTSW 12 8952472 missense probably damaging 0.99
R7206:Matn3 UTSW 12 8961170 missense probably benign 0.01
R8512:Matn3 UTSW 12 8961183 missense probably benign 0.11
R8737:Matn3 UTSW 12 8967665 missense possibly damaging 0.90
R8951:Matn3 UTSW 12 8952172 missense probably damaging 0.99
R9022:Matn3 UTSW 12 8952355 missense probably damaging 1.00
R9328:Matn3 UTSW 12 8952033 missense possibly damaging 0.78
RF001:Matn3 UTSW 12 8958797 missense probably benign 0.02
Posted On 2015-04-16