Incidental Mutation 'IGL02696:Matn4'
ID303934
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Matn4
Ensembl Gene ENSMUSG00000016995
Gene Namematrilin 4
Synonymsmatrilin-4
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02696
Quality Score
Status
Chromosome2
Chromosomal Location164389393-164405160 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164396838 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 343 (F343S)
Ref Sequence ENSEMBL: ENSMUSP00000099393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]
Predicted Effect probably benign
Transcript: ENSMUST00000103103
AA Change: F343S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: F343S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000103104
AA Change: F343S

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: F343S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.04e-3 SMART
EGF 261 298 3.43e-4 SMART
EGF 302 339 1.85e0 SMART
EGF 343 380 1.24e-1 SMART
VWA 386 564 6.72e-56 SMART
Matrilin_ccoil 574 621 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109358
AA Change: F261S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: F261S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 1.85e0 SMART
EGF 261 298 1.24e-1 SMART
VWA 304 482 6.72e-56 SMART
Matrilin_ccoil 492 539 2.39e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109359
AA Change: F302S

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: F302S

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
VWA 34 209 8.6e-54 SMART
EGF 220 257 3.43e-4 SMART
EGF 261 298 1.85e0 SMART
EGF 302 339 1.24e-1 SMART
VWA 345 523 6.72e-56 SMART
Matrilin_ccoil 533 580 2.39e-14 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154940
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. The proteins of this family are thought to be involved in the formation of filamentous networks in the extracellular matrices of various tissues. This family member is thought to be play a role in reorganizing and regenerating the corneal matrix in granular and lattice type I dystrophies. It may also be involved in wound healing in the dentin-pulp complex. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2013]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr8 A G 14: 29,982,671 T43A probably benign Het
Adgrd1 T C 5: 129,140,854 probably benign Het
Asxl1 T A 2: 153,400,195 Y888* probably null Het
Atp8b5 T C 4: 43,369,634 V924A possibly damaging Het
AU040320 T C 4: 126,842,587 L821P probably damaging Het
Capn11 T C 17: 45,632,709 N596S probably damaging Het
Cnot1 C A 8: 95,745,017 V1219F probably benign Het
Cope T C 8: 70,310,493 probably null Het
Crim1 A G 17: 78,279,973 E169G probably damaging Het
Csmd3 A T 15: 47,669,669 F2395I probably benign Het
Ctso A C 3: 81,951,384 D220A possibly damaging Het
Cttnbp2 G A 6: 18,434,129 P577S probably benign Het
D930048N14Rik T A 11: 51,653,994 probably benign Het
Dck T A 5: 88,772,807 S129T probably damaging Het
Dlc1 A G 8: 36,574,172 V1301A possibly damaging Het
Dusp16 G A 6: 134,718,435 R478C probably damaging Het
Ermap C T 4: 119,187,707 R49K possibly damaging Het
Flnc A G 6: 29,446,698 K969R probably damaging Het
Gjb2 A T 14: 57,100,312 F146L probably damaging Het
Hdc A T 2: 126,594,300 D550E probably damaging Het
Hs6st3 A T 14: 119,869,319 I380F probably damaging Het
Htr1d T C 4: 136,443,411 V317A probably benign Het
Kalrn A T 16: 34,220,114 M963K probably damaging Het
Kl T A 5: 150,980,985 S401T probably benign Het
Lair1 A G 7: 4,010,849 probably benign Het
Lrp5 C T 19: 3,602,253 V1206I probably benign Het
Mrgpra4 G T 7: 47,981,503 R117S possibly damaging Het
Myh14 T C 7: 44,665,106 Y131C probably damaging Het
Nap1l4 A T 7: 143,524,161 N345K possibly damaging Het
Oas1c T C 5: 120,805,463 R204G probably benign Het
Olfr1061 T A 2: 86,413,615 T146S probably benign Het
Olfr677 A G 7: 105,056,362 T39A probably benign Het
Pakap T A 4: 57,854,663 D58E probably damaging Het
Pin1 G A 9: 20,663,235 G150E probably benign Het
R3hdm2 T C 10: 127,465,019 probably null Het
Rai1 C A 11: 60,193,956 H1843Q probably benign Het
Siae G T 9: 37,631,384 A194S probably damaging Het
Slc6a12 G T 6: 121,363,252 V485L probably benign Het
Stil T G 4: 115,041,495 S1107R probably damaging Het
Syt16 T C 12: 74,129,411 V18A possibly damaging Het
Trpm8 A G 1: 88,348,051 D457G probably damaging Het
Tshr A T 12: 91,493,329 T66S possibly damaging Het
Ttn T A 2: 76,707,295 Q34763L probably benign Het
Ubr2 T A 17: 46,963,765 M830L probably benign Het
Ulk1 A G 5: 110,793,052 F337S probably damaging Het
Other mutations in Matn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Matn4 APN 2 164400743 missense probably damaging 0.97
IGL02188:Matn4 APN 2 164400866 missense probably benign 0.00
IGL02195:Matn4 APN 2 164401052 missense probably damaging 1.00
IGL02927:Matn4 APN 2 164389837 missense probably damaging 1.00
R2021:Matn4 UTSW 2 164400653 missense probably damaging 1.00
R2022:Matn4 UTSW 2 164400653 missense probably damaging 1.00
R2272:Matn4 UTSW 2 164397242 missense possibly damaging 0.92
R2448:Matn4 UTSW 2 164401850 missense probably benign 0.04
R4824:Matn4 UTSW 2 164393231 missense probably benign 0.01
R4839:Matn4 UTSW 2 164400976 missense probably benign 0.00
R5884:Matn4 UTSW 2 164404608 utr 5 prime probably benign
R5914:Matn4 UTSW 2 164393224 missense probably damaging 1.00
R6209:Matn4 UTSW 2 164400815 missense probably damaging 1.00
R6995:Matn4 UTSW 2 164389664 nonsense probably null
R7679:Matn4 UTSW 2 164389658 makesense probably null
R8035:Matn4 UTSW 2 164397040 missense probably damaging 0.99
X0063:Matn4 UTSW 2 164397277 missense probably benign 0.01
Posted On2015-04-16