Incidental Mutation 'R9079:Matn4'
ID 713548
Institutional Source Beutler Lab
Gene Symbol Matn4
Ensembl Gene ENSMUSG00000016995
Gene Name matrilin 4
Synonyms matrilin-4
MMRRC Submission 068899-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9079 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 164231313-164247080 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 164235473 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000129629 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000103103] [ENSMUST00000103104] [ENSMUST00000109358] [ENSMUST00000109359] [ENSMUST00000167427]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000103103
SMART Domains Protein: ENSMUSP00000099392
Gene: ENSMUSG00000016995

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
SMART Domains Protein: ENSMUSP00000099393
Gene: ENSMUSG00000016995

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
SMART Domains Protein: ENSMUSP00000104982
Gene: ENSMUSG00000016995

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
SMART Domains Protein: ENSMUSP00000104983
Gene: ENSMUSG00000016995

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 probably benign
Transcript: ENSMUST00000167427
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 98% (51/52)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atad2 A T 15: 57,989,223 (GRCm39) S212R probably benign Het
Bcl9 A T 3: 97,112,816 (GRCm39) V1213E probably damaging Het
Brd1 T C 15: 88,598,153 (GRCm39) D531G probably damaging Het
Cd1d1 T A 3: 86,906,197 (GRCm39) Y26F probably benign Het
Cep83 T C 10: 94,564,541 (GRCm39) F160S possibly damaging Het
Cfap61 G T 2: 145,781,859 (GRCm39) V31F probably benign Het
Cox11 G A 11: 90,535,246 (GRCm39) M232I probably damaging Het
Cpne7 C T 8: 123,856,951 (GRCm39) P402L probably damaging Het
Cubn A G 2: 13,291,914 (GRCm39) S3304P probably benign Het
Eif4b T A 15: 102,003,177 (GRCm39) D549E unknown Het
Extl1 T A 4: 134,089,975 (GRCm39) N378Y probably damaging Het
Fbxo4 C T 15: 3,998,388 (GRCm39) probably null Het
Fhip1a C A 3: 85,579,590 (GRCm39) G872* probably null Het
G430095P16Rik A T 8: 85,453,412 (GRCm39) H133L unknown Het
Gm8138 A T 14: 43,272,502 (GRCm39) N104K Het
Gzma A G 13: 113,232,858 (GRCm39) F78S probably benign Het
Hars2 T C 18: 36,923,190 (GRCm39) S400P possibly damaging Het
Hnrnpm G T 17: 33,868,775 (GRCm39) R551S probably damaging Het
Htr5b T A 1: 121,455,816 (GRCm39) T35S probably benign Het
Jak3 A C 8: 72,131,898 (GRCm39) E158A probably benign Het
Kctd16 A G 18: 40,390,080 (GRCm39) probably benign Het
Kdm4c C A 4: 74,277,738 (GRCm39) D797E probably benign Het
Klhl31 T A 9: 77,558,151 (GRCm39) V289E probably damaging Het
Loxhd1 T C 18: 77,490,593 (GRCm39) S1398P probably benign Het
Mrps28 A G 3: 8,867,308 (GRCm39) *187Q probably null Het
Myh7b G A 2: 155,465,174 (GRCm39) V677I probably damaging Het
Naip1 A T 13: 100,559,727 (GRCm39) D1092E probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Notch3 A T 17: 32,383,033 (GRCm39) probably benign Het
Nr1h2 C A 7: 44,199,430 (GRCm39) E440D possibly damaging Het
Or1l4b T C 2: 37,036,989 (GRCm39) V255A probably damaging Het
Or6c207 A T 10: 129,104,466 (GRCm39) M242K possibly damaging Het
Or7g16 A T 9: 18,726,731 (GRCm39) N286K probably damaging Het
Or8g2b T A 9: 39,750,769 (GRCm39) I13N probably benign Het
Osbpl9 A T 4: 108,920,644 (GRCm39) V543D possibly damaging Het
Pcgf6 T C 19: 47,039,053 (GRCm39) E69G possibly damaging Het
Piezo2 A G 18: 63,157,537 (GRCm39) L2391P probably damaging Het
Rcn2 T A 9: 55,952,393 (GRCm39) probably benign Het
Ripor2 G A 13: 24,915,637 (GRCm39) R1069H probably benign Het
Ro60 A C 1: 143,641,519 (GRCm39) L314R probably damaging Het
Rsf1 ATGGCG ATGGCGACGGTGGCG 7: 97,229,111 (GRCm39) probably benign Het
Senp5 A T 16: 31,787,718 (GRCm39) I635N probably damaging Het
Slc30a9 A T 5: 67,484,241 (GRCm39) K126M possibly damaging Het
Slc9b2 A T 3: 135,042,150 (GRCm39) R476S probably damaging Het
Sptb G T 12: 76,677,454 (GRCm39) R127S probably damaging Het
Svil T C 18: 5,056,308 (GRCm39) S394P probably benign Het
Tjp1 A T 7: 64,950,966 (GRCm39) I1636N possibly damaging Het
Tlcd5 C T 9: 43,022,664 (GRCm39) R230Q probably benign Het
Trio T C 15: 27,733,023 (GRCm39) I2953V possibly damaging Het
Ttn A G 2: 76,632,734 (GRCm39) F14107L probably damaging Het
Usp20 A G 2: 30,895,120 (GRCm39) probably benign Het
Vmn1r123 A T 7: 20,896,979 (GRCm39) L290F probably benign Het
Vmn1r202 T C 13: 22,685,602 (GRCm39) M272V probably benign Het
Vmn2r97 A T 17: 19,149,640 (GRCm39) N343Y probably benign Het
Wdr90 A T 17: 26,076,403 (GRCm39) W45R 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
R6209:Matn4 UTSW 2 164,242,735 (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
X0063:Matn4 UTSW 2 164,239,197 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- CTCGGGAGACACGTCAAG -3'
(R):5'- AGAAAATGTTGTTCTTGCCATTGTC -3'

Sequencing Primer
(F):5'- GTCAAGGAAATCCACAATCTGGTTC -3'
(R):5'- CAGTCAGGACACATAACTGG -3'
Posted On 2022-06-15