Incidental Mutation 'IGL01814:Matn3'
ID154361
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn3
Ensembl Gene ENSMUSG00000020583
Gene Namematrilin 3
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.111) question?
Stock #IGL01814
Quality Score
Status
Chromosome12
Chromosomal Location8947929-8972028 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 8952091 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 101 (V101A)
Ref Sequence ENSEMBL: ENSMUSP00000020899 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020899]
Predicted Effect probably damaging
Transcript: ENSMUST00000020899
AA Change: V101A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000020899
Gene: ENSMUSG00000020583
AA Change: V101A

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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afg3l2 T A 18: 67,405,474 N738I probably benign Het
B3galnt2 A G 13: 13,987,353 S1G probably damaging Het
Btbd9 T C 17: 30,299,535 I484V probably benign Het
Chd6 T C 2: 161,059,929 K8R probably benign Het
Csmd1 A C 8: 16,501,375 L279R probably damaging Het
Dmxl1 G T 18: 49,864,868 V708F probably damaging Het
Dnajc24 C T 2: 105,981,084 G49R probably benign Het
Dnhd1 T C 7: 105,652,030 M198T probably benign Het
Dtx3l T A 16: 35,931,502 D683V probably benign Het
Duox1 A G 2: 122,346,272 T1425A probably damaging Het
Enpp3 G A 10: 24,792,025 P510S possibly damaging Het
Iars2 G T 1: 185,302,775 Y590* probably null Het
Itgb7 T C 15: 102,223,417 R244G possibly damaging Het
Itpr2 T A 6: 146,232,546 R1820S probably benign Het
Neurod1 C T 2: 79,454,659 V127M probably damaging Het
Olfr1505 T A 19: 13,919,528 C169* probably null Het
Olfr683 T C 7: 105,143,604 I236V possibly damaging Het
Pde10a A G 17: 8,929,107 M1V probably null Het
Pdk4 A G 6: 5,491,828 probably null Het
Ptchd4 A T 17: 42,503,286 I693F possibly damaging Het
Scml4 C T 10: 42,935,045 R194C probably damaging Het
Slc24a4 T C 12: 102,254,618 V436A probably benign Het
Slc9a3 C A 13: 74,165,972 R800S probably damaging Het
Smchd1 C A 17: 71,378,187 M1415I probably benign Het
Syndig1 T A 2: 149,899,770 I92N probably damaging Het
Tchhl1 T C 3: 93,470,349 V120A possibly damaging Het
Thumpd3 C T 6: 113,063,151 T332I possibly damaging Het
Tmem101 G A 11: 102,153,458 T201M possibly damaging Het
Trip11 T C 12: 101,884,488 T1106A probably damaging Het
Ttc41 C T 10: 86,731,026 R519C probably damaging Het
Xirp1 T A 9: 120,017,919 M633L probably damaging Het
Zfp938 A T 10: 82,226,218 D189E probably benign Het
Other mutations in Matn3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02138:Matn3 APN 12 8967638 missense possibly damaging 0.93
IGL02442:Matn3 APN 12 8967678 nonsense probably null
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
RF001:Matn3 UTSW 12 8958797 missense probably benign 0.02
Posted On2014-02-04