Incidental Mutation 'IGL02927:Matn4'
ID363911
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 #IGL02927
Quality Score
Status
Chromosome2
Chromosomal Location164389393-164405160 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 164389837 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 591 (F591S)
Ref Sequence ENSEMBL: ENSMUSP00000099393 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359] [ENSMUST00000167427]
Predicted Effect probably damaging
Transcript: ENSMUST00000103103
AA Change: F591S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: F591S

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 damaging
Transcript: ENSMUST00000103104
AA Change: F591S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: F591S

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 damaging
Transcript: ENSMUST00000109358
AA Change: F509S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: F509S

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 damaging
Transcript: ENSMUST00000109359
AA Change: F550S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: F550S

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
Predicted Effect probably benign
Transcript: ENSMUST00000167427
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik G A 17: 48,036,920 Q192* probably null Het
Actl7b C A 4: 56,740,609 D250Y probably damaging Het
Akr1a1 T A 4: 116,637,983 N273I probably damaging Het
Arhgap32 T A 9: 32,261,135 I1737N possibly damaging Het
Cant1 T C 11: 118,411,062 D143G probably benign Het
Cast T A 13: 74,736,994 D295V probably damaging Het
Cdh1 A G 8: 106,668,511 N851D probably damaging Het
Cntn1 G A 15: 92,291,680 R628H probably benign Het
Cul4a A G 8: 13,124,861 D279G possibly damaging Het
Cyp2s1 T C 7: 25,808,152 K291E probably benign Het
Dhx35 A T 2: 158,820,416 I205F probably damaging Het
Dpp8 G T 9: 65,060,269 R518L probably benign Het
Fam35a T C 14: 34,267,701 Y416C probably damaging Het
Gm9 A G X: 37,210,554 I34T possibly damaging Het
Hmcn1 A T 1: 150,577,278 C5429S probably damaging Het
Iqgap2 A C 13: 95,724,676 L314R possibly damaging Het
Itgav A C 2: 83,795,540 Y810S probably damaging Het
Kcng4 G T 8: 119,626,322 P283Q probably benign Het
Lrrn3 T A 12: 41,453,344 I325F probably damaging Het
Lzts3 A G 2: 130,637,957 probably benign Het
March7 T C 2: 60,236,918 I594T probably damaging Het
Matn2 A T 15: 34,355,655 I269F probably damaging Het
Mknk1 C T 4: 115,857,091 R20C probably damaging Het
Mrgbp T C 2: 180,584,479 V115A probably damaging Het
Mrgprb8 C T 7: 48,388,625 Q15* probably null Het
Naa38 T C 11: 69,395,917 L9P probably damaging Het
Nrn1 C A 13: 36,730,106 probably null Het
Olfr131 T A 17: 38,082,223 M252L probably benign Het
Olfr1501 G A 19: 13,838,924 T83I probably benign Het
Olfr525 T A 7: 140,322,741 L14Q probably damaging Het
Pkd1 A G 17: 24,575,189 N1950S probably damaging Het
Plagl2 A G 2: 153,232,279 L234P probably damaging Het
Psmb11 C T 14: 54,625,651 R109W probably damaging Het
Rcc1 C T 4: 132,337,756 R139H probably benign Het
Rsbn1 A G 3: 103,962,352 T710A probably benign Het
Slitrk4 A G X: 64,271,327 I578T possibly damaging Het
Srgap1 T C 10: 121,855,462 Y289C probably damaging Het
Stxbp2 A G 8: 3,642,685 D579G possibly damaging Het
Tg T C 15: 66,678,093 Y235H probably damaging Het
Thbs3 A G 3: 89,220,207 N385S probably damaging Het
Trmo A G 4: 46,387,602 S80P probably damaging Het
Ubc T C 5: 125,386,137 K709E probably benign Het
Vstm4 C T 14: 32,937,788 P296S probably damaging Het
Wdr11 G A 7: 129,607,098 probably null Het
Wdr19 T C 5: 65,252,378 I1153T possibly damaging Het
Xpo6 T C 7: 126,156,729 E213G possibly damaging Het
Zxdc A C 6: 90,372,562 T311P 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
IGL02696:Matn4 APN 2 164396838 missense probably benign 0.09
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 On2015-12-18