Incidental Mutation 'R6209:Matn4'
ID 503309
Institutional Source Beutler Lab
Gene Symbol Matn4
Ensembl Gene ENSMUSG00000016995
Gene Name matrilin 4
Synonyms matrilin-4
MMRRC Submission 044343-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6209 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 164231313-164247080 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 164242735 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 121 (Y121C)
Ref Sequence ENSEMBL: ENSMUSP00000104983 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000017151] [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000017151
SMART Domains Protein: ENSMUSP00000017151
Gene: ENSMUSG00000017007

DomainStartEndE-ValueType
LAG1_DNAbind 66 204 4.58e-78 SMART
BTD 205 357 1.23e-83 SMART
SCOP:d1a02n1 383 475 3e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000103103
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995
AA Change: Y121C

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: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995
AA Change: Y121C

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 noncoding transcript
Transcript: ENSMUST00000109356
Predicted Effect probably damaging
Transcript: ENSMUST00000109358
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995
AA Change: Y121C

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: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995
AA Change: Y121C

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: ENSMUST00000137427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154940
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aff3 T A 1: 38,232,670 (GRCm39) M990L probably benign Het
Agl A T 3: 116,578,845 (GRCm39) Y429* probably null Het
Ahnak A T 19: 8,989,930 (GRCm39) K3738M probably damaging Het
Amn G T 12: 111,241,845 (GRCm39) V304L probably damaging Het
Ap3s1 G A 18: 46,912,318 (GRCm39) V113I probably benign Het
Arhgef28 A T 13: 98,065,917 (GRCm39) probably null Het
Atad2 A G 15: 57,981,811 (GRCm39) S18P probably damaging Het
Bhmt1b C T 18: 87,775,341 (GRCm39) A288V probably damaging Het
C4b T A 17: 34,960,061 (GRCm39) E305V possibly damaging Het
Caskin1 T C 17: 24,726,095 (GRCm39) S1401P possibly damaging Het
Cblc A T 7: 19,519,230 (GRCm39) V366D possibly damaging Het
Cdk17 A T 10: 93,044,093 (GRCm39) T11S probably benign Het
Cenpc1 A G 5: 86,181,509 (GRCm39) S619P probably benign Het
Clec4d T G 6: 123,247,488 (GRCm39) probably null Het
Disp2 T C 2: 118,617,402 (GRCm39) L132P probably damaging Het
Dync2h1 T C 9: 7,165,677 (GRCm39) K528R probably benign Het
Fbxw26 A G 9: 109,547,033 (GRCm39) I464T possibly damaging Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gabbr2 A G 4: 46,804,069 (GRCm39) V262A probably damaging Het
Galnt17 T A 5: 131,110,434 (GRCm39) M302L probably benign Het
Gpn3 T C 5: 122,520,175 (GRCm39) I243T probably benign Het
Gpr160 T C 3: 30,950,141 (GRCm39) V71A possibly damaging Het
Gramd1b G T 9: 40,244,946 (GRCm39) A154D probably damaging Het
Grid2ip G A 5: 143,366,184 (GRCm39) S379N probably damaging Het
H60b C A 10: 22,163,043 (GRCm39) T206N probably benign Het
Hydin A T 8: 111,320,434 (GRCm39) I4493F probably benign Het
Il19 C T 1: 130,866,852 (GRCm39) E43K possibly damaging Het
Ints2 A G 11: 86,115,884 (GRCm39) Y782H probably damaging Het
Itprid1 T A 6: 55,851,306 (GRCm39) I62N probably damaging Het
Jph1 C A 1: 17,167,810 (GRCm39) D7Y probably damaging Het
Lipo2 T C 19: 33,726,852 (GRCm39) I62V probably damaging Het
Map7 G A 10: 20,152,026 (GRCm39) probably null Het
Matk T G 10: 81,095,422 (GRCm39) W81G probably damaging Het
Mical2 G A 7: 111,923,293 (GRCm39) probably null Het
Miga2 T G 2: 30,271,674 (GRCm39) Y399D probably damaging Het
Mocos A T 18: 24,799,672 (GRCm39) E302V probably benign Het
Mrpl11 C T 19: 5,014,743 (GRCm39) A172V probably damaging Het
Mrpl48 A C 7: 100,209,001 (GRCm39) Y108D probably damaging Het
Mtr A G 13: 12,205,278 (GRCm39) S1061P probably benign Het
Myh11 T A 16: 14,026,155 (GRCm39) K1309* probably null Het
Myom2 G A 8: 15,154,173 (GRCm39) V704I possibly damaging Het
Nars2 A G 7: 96,706,728 (GRCm39) H413R probably benign Het
Nckap1 A G 2: 80,355,946 (GRCm39) L619P probably damaging Het
Notch1 T C 2: 26,362,817 (GRCm39) N983S probably damaging Het
Nup210 A G 6: 91,002,337 (GRCm39) V717A probably benign Het
P4ha3 G T 7: 99,966,292 (GRCm39) G479V probably benign Het
Pcdhb18 G A 18: 37,623,537 (GRCm39) R289Q probably benign Het
Phf11a A G 14: 59,525,028 (GRCm39) S59P probably damaging Het
Phyhip G A 14: 70,700,798 (GRCm39) S95N probably benign Het
Ppat A G 5: 77,065,993 (GRCm39) V375A probably benign Het
Prkdc A G 16: 15,608,456 (GRCm39) E3086G probably damaging Het
Psg22 A G 7: 18,453,599 (GRCm39) E98G probably damaging Het
Rabgap1 A T 2: 37,453,610 (GRCm39) K1013* probably null Het
Retreg3 C T 11: 101,010,526 (GRCm39) G27D probably benign Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Rptn C G 3: 93,305,437 (GRCm39) H923Q possibly damaging Het
Sema6a A T 18: 47,431,369 (GRCm39) probably null Het
Septin10 T C 10: 59,006,670 (GRCm39) E349G probably damaging Het
Serpina1c A G 12: 103,863,429 (GRCm39) V257A probably damaging Het
Sgpp2 T A 1: 78,367,119 (GRCm39) M84K probably damaging Het
Shoc1 A G 4: 59,043,869 (GRCm39) *1482R probably null Het
Skint11 A G 4: 114,101,907 (GRCm39) S116G possibly damaging Het
Slc2a5 G A 4: 150,227,557 (GRCm39) V459I probably benign Het
Smarca2 T G 19: 26,748,404 (GRCm39) Y126* probably null Het
Stab2 T G 10: 86,758,867 (GRCm39) N1024H possibly damaging Het
Sting1 A T 18: 35,869,155 (GRCm39) I178N probably damaging Het
Svep1 A C 4: 58,128,869 (GRCm39) F609L probably benign Het
Tbc1d2 G A 4: 46,614,068 (GRCm39) T671I probably damaging Het
Thoc5 T C 11: 4,855,697 (GRCm39) I82T probably damaging Het
Tmem213 G T 6: 38,092,517 (GRCm39) C83F probably damaging Het
Topaz1 G A 9: 122,579,570 (GRCm39) D827N possibly damaging Het
Trappc10 C A 10: 78,050,646 (GRCm39) G265V possibly damaging Het
Ttn A G 2: 76,539,808 (GRCm39) S26066P probably damaging Het
Zfp292 G T 4: 34,809,442 (GRCm39) Q1201K probably benign Het
Zfp354a T A 11: 50,951,815 (GRCm39) probably null Het
Zfp418 T C 7: 7,185,096 (GRCm39) V353A possibly damaging Het
Zfp444 G A 7: 6,192,948 (GRCm39) probably benign Het
Zfp503 C A 14: 22,035,778 (GRCm39) Q379H probably damaging Het
Zfp804a A G 2: 82,088,462 (GRCm39) K764E probably damaging Het
Other mutations in Matn4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01745:Matn4 APN 2 164,242,663 (GRCm39) missense probably damaging 0.97
IGL02188:Matn4 APN 2 164,242,786 (GRCm39) missense probably benign 0.00
IGL02195:Matn4 APN 2 164,242,972 (GRCm39) missense probably damaging 1.00
IGL02696:Matn4 APN 2 164,238,758 (GRCm39) missense probably benign 0.09
IGL02927:Matn4 APN 2 164,231,757 (GRCm39) missense probably damaging 1.00
R2021:Matn4 UTSW 2 164,242,573 (GRCm39) missense probably damaging 1.00
R2022:Matn4 UTSW 2 164,242,573 (GRCm39) missense probably damaging 1.00
R2272:Matn4 UTSW 2 164,239,162 (GRCm39) missense possibly damaging 0.92
R2448:Matn4 UTSW 2 164,243,770 (GRCm39) missense probably benign 0.04
R4824:Matn4 UTSW 2 164,235,151 (GRCm39) missense probably benign 0.01
R4839:Matn4 UTSW 2 164,242,896 (GRCm39) missense probably benign 0.00
R5884:Matn4 UTSW 2 164,246,528 (GRCm39) utr 5 prime probably benign
R5914:Matn4 UTSW 2 164,235,144 (GRCm39) missense probably damaging 1.00
R6995:Matn4 UTSW 2 164,231,584 (GRCm39) nonsense probably null
R7679:Matn4 UTSW 2 164,231,578 (GRCm39) makesense probably null
R8035:Matn4 UTSW 2 164,238,960 (GRCm39) missense probably damaging 0.99
R8117:Matn4 UTSW 2 164,241,682 (GRCm39) missense probably benign 0.05
R8117:Matn4 UTSW 2 164,234,851 (GRCm39) missense probably damaging 1.00
R8321:Matn4 UTSW 2 164,235,207 (GRCm39) missense probably damaging 1.00
R8861:Matn4 UTSW 2 164,234,825 (GRCm39) missense
R9079:Matn4 UTSW 2 164,235,473 (GRCm39) unclassified probably benign
X0063:Matn4 UTSW 2 164,239,197 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CCACTAAGAAGACATGCTGATCCAG -3'
(R):5'- TGAGACCATGAGGCAGTTCC -3'

Sequencing Primer
(F):5'- CGAAGAGAGCCCACGTCAG -3'
(R):5'- AGGCAGTTCCTAGTGGGC -3'
Posted On 2018-02-27