Incidental Mutation 'R4084:Ecm1'
ID 317010
Institutional Source Beutler Lab
Gene Symbol Ecm1
Ensembl Gene ENSMUSG00000028108
Gene Name extracellular matrix protein 1
Synonyms p85
MMRRC Submission 040857-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # R4084 (G1)
Quality Score 225
Status Not validated
Chromosome 3
Chromosomal Location 95641459-95646880 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 95641676 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 519 (N519K)
Ref Sequence ENSEMBL: ENSMUSP00000112665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029753] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000131376] [ENSMUST00000137912] [ENSMUST00000153026] [ENSMUST00000147217]
AlphaFold Q61508
Predicted Effect probably damaging
Transcript: ENSMUST00000029753
AA Change: N518K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: N518K

DomainStartEndE-ValueType
Pfam:ECM1 1 558 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117507
AA Change: N519K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: N519K

DomainStartEndE-ValueType
Pfam:ECM1 1 559 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123143
SMART Domains Protein: ENSMUSP00000120300
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 266 4.4e-132 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128885
SMART Domains Protein: ENSMUSP00000120820
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 251 1.5e-135 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000131376
SMART Domains Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 295 4.2e-146 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000137912
SMART Domains Protein: ENSMUSP00000122243
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 140 1.8e-39 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155815
Predicted Effect probably benign
Transcript: ENSMUST00000153026
SMART Domains Protein: ENSMUSP00000114747
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 230 1.3e-100 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147217
SMART Domains Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 80 5.2e-40 PFAM
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a soluble protein that is involved in endochondral bone formation, angiogenesis, and tumor biology. It also interacts with a variety of extracellular and structural proteins, contributing to the maintenance of skin integrity and homeostasis. Mutations in this gene are associated with lipoid proteinosis disorder (also known as hyalinosis cutis et mucosae or Urbach-Wiethe disease) that is characterized by generalized thickening of skin, mucosae and certain viscera. Alternatively spliced transcript variants encoding distinct isoforms have been described for this gene. [provided by RefSeq, Feb 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit auto-inflammatory disease and do not survive beyond 6 to 8 weeks of age. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amotl2 A T 9: 102,601,884 (GRCm39) probably null Het
Arhgdig T C 17: 26,418,799 (GRCm39) D114G possibly damaging Het
Btnl1 C T 17: 34,600,133 (GRCm39) T212I possibly damaging Het
Camkk1 C T 11: 72,928,691 (GRCm39) T410I probably damaging Het
Capn13 C T 17: 73,644,444 (GRCm39) G362R probably benign Het
Catsperd A G 17: 56,961,453 (GRCm39) T392A probably benign Het
Ccdc180 A G 4: 45,950,632 (GRCm39) I1626V probably benign Het
Cdon C A 9: 35,389,427 (GRCm39) T844K probably damaging Het
Col28a1 G A 6: 8,013,131 (GRCm39) Q974* probably null Het
Col28a1 C G 6: 8,013,132 (GRCm39) K973N possibly damaging Het
Dnhd1 T C 7: 105,358,795 (GRCm39) L3428P probably damaging Het
Fbxw11 T C 11: 32,689,248 (GRCm39) V457A probably damaging Het
Flna C T X: 73,280,531 (GRCm39) V1009M possibly damaging Het
Fmnl2 A T 2: 52,997,507 (GRCm39) K486I possibly damaging Het
Gja1 A C 10: 56,264,607 (GRCm39) Q322P possibly damaging Het
Gtpbp3 A G 8: 71,943,156 (GRCm39) Q189R probably benign Het
H2-Eb1 T C 17: 34,533,417 (GRCm39) V213A probably damaging Het
Herc4 G T 10: 63,119,016 (GRCm39) G322V probably damaging Het
Hgf G T 5: 16,820,856 (GRCm39) G668* probably null Het
Htra1 T C 7: 130,538,074 (GRCm39) S25P probably benign Het
Ifi44 A G 3: 151,451,126 (GRCm39) probably null Het
Klhl24 T A 16: 19,933,312 (GRCm39) S308T probably damaging Het
Lamb2 A G 9: 108,365,217 (GRCm39) N1291S probably benign Het
Lgals9 A T 11: 78,860,589 (GRCm39) F162Y possibly damaging Het
Lig3 T A 11: 82,686,250 (GRCm39) I634N probably damaging Het
Lipn T C 19: 34,056,340 (GRCm39) F229L probably benign Het
Lmtk3 T A 7: 45,442,716 (GRCm39) S466R probably damaging Het
Lonrf2 G A 1: 38,860,232 (GRCm39) T22I probably benign Het
Macf1 T C 4: 123,343,865 (GRCm39) H2119R probably damaging Het
Muc6 C T 7: 141,234,920 (GRCm39) C634Y probably damaging Het
Nap1l1 G A 10: 111,325,938 (GRCm39) V86I possibly damaging Het
Noxred1 A G 12: 87,280,258 (GRCm39) Y25H possibly damaging Het
Nphp4 T C 4: 152,573,248 (GRCm39) L62P probably damaging Het
Or11h6 T A 14: 50,880,305 (GRCm39) I189N probably damaging Het
Or2b2 G A 13: 21,887,238 (GRCm39) W22* probably null Het
Or2b2 C A 13: 21,887,239 (GRCm39) L23M probably damaging Het
Or52ab4 T G 7: 102,987,527 (GRCm39) F89V probably damaging Het
Pcdh10 A C 3: 45,347,142 (GRCm39) D979A probably damaging Het
Pla2g4f C G 2: 120,142,806 (GRCm39) Q101H probably benign Het
Ppp1r15b T C 1: 133,060,805 (GRCm39) F441L probably damaging Het
Prkaca C A 8: 84,721,939 (GRCm39) P309T probably damaging Het
Ptch1 T G 13: 63,672,773 (GRCm39) E944A probably benign Het
Ripor3 A G 2: 167,826,386 (GRCm39) Y720H possibly damaging Het
Rpgrip1 A G 14: 52,386,808 (GRCm39) E751G possibly damaging Het
Rsf1 GCGGCGGCGGCGGCGGC GCGGCGGCGGCGGCGGCGGCGGCGGC 7: 97,229,126 (GRCm39) probably benign Het
Ryr3 A G 2: 112,731,253 (GRCm39) S686P probably damaging Het
Seh1l T C 18: 67,921,860 (GRCm39) V240A possibly damaging Het
Slc10a2 T G 8: 5,139,126 (GRCm39) I273L possibly damaging Het
Slc23a2 A T 2: 131,933,137 (GRCm39) L107* probably null Het
Slc44a4 T C 17: 35,136,323 (GRCm39) L38P probably damaging Het
Slc6a18 C T 13: 73,815,148 (GRCm39) V387I probably benign Het
Slu7 G A 11: 43,334,218 (GRCm39) A415T probably benign Het
Tlr5 A T 1: 182,802,413 (GRCm39) R572S possibly damaging Het
Tmem45a2 C T 16: 56,891,387 (GRCm39) G3D probably benign Het
Trim24 A G 6: 37,892,192 (GRCm39) T242A probably damaging Het
Triobp T A 15: 78,857,871 (GRCm39) N1157K probably benign Het
Ugt1a6a A T 1: 88,066,899 (GRCm39) D235V probably benign Het
Vmn2r37 C T 7: 9,218,984 (GRCm39) V467I probably benign Het
Vmn2r7 C T 3: 64,600,414 (GRCm39) E495K probably benign Het
Vstm2a A G 11: 16,213,098 (GRCm39) E161G probably damaging Het
Ypel3 T C 7: 126,377,537 (GRCm39) V74A possibly damaging Het
Zfp1005 T A 2: 150,108,122 (GRCm39) N27K possibly damaging Het
Zfp27 C T 7: 29,594,792 (GRCm39) R391H possibly damaging Het
Other mutations in Ecm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Ecm1 APN 3 95,642,211 (GRCm39) missense probably damaging 1.00
IGL01686:Ecm1 APN 3 95,643,376 (GRCm39) missense probably benign
IGL01807:Ecm1 APN 3 95,643,891 (GRCm39) missense probably damaging 1.00
IGL01862:Ecm1 APN 3 95,641,586 (GRCm39) missense probably benign 0.08
IGL02006:Ecm1 APN 3 95,641,557 (GRCm39) missense probably damaging 0.98
IGL02134:Ecm1 APN 3 95,643,499 (GRCm39) missense probably damaging 1.00
IGL02210:Ecm1 APN 3 95,643,289 (GRCm39) missense probably damaging 0.97
IGL02813:Ecm1 APN 3 95,644,098 (GRCm39) missense probably damaging 0.99
IGL02959:Ecm1 APN 3 95,644,989 (GRCm39) missense probably damaging 1.00
R0362:Ecm1 UTSW 3 95,644,369 (GRCm39) missense possibly damaging 0.93
R0963:Ecm1 UTSW 3 95,643,900 (GRCm39) missense possibly damaging 0.95
R1181:Ecm1 UTSW 3 95,642,662 (GRCm39) missense possibly damaging 0.85
R1230:Ecm1 UTSW 3 95,642,738 (GRCm39) splice site probably null
R1483:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1484:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1559:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1561:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1562:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1590:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R1591:Ecm1 UTSW 3 95,643,275 (GRCm39) missense probably damaging 1.00
R2110:Ecm1 UTSW 3 95,643,254 (GRCm39) missense probably benign 0.14
R3236:Ecm1 UTSW 3 95,642,158 (GRCm39) missense possibly damaging 0.71
R3897:Ecm1 UTSW 3 95,643,298 (GRCm39) missense probably damaging 0.99
R4770:Ecm1 UTSW 3 95,645,273 (GRCm39) unclassified probably benign
R4985:Ecm1 UTSW 3 95,643,415 (GRCm39) missense possibly damaging 0.55
R5506:Ecm1 UTSW 3 95,643,169 (GRCm39) missense probably benign 0.00
R5861:Ecm1 UTSW 3 95,643,909 (GRCm39) missense probably damaging 1.00
R7472:Ecm1 UTSW 3 95,642,632 (GRCm39) missense possibly damaging 0.93
R7678:Ecm1 UTSW 3 95,643,494 (GRCm39) missense probably damaging 0.97
R7704:Ecm1 UTSW 3 95,643,843 (GRCm39) missense probably damaging 0.99
R7864:Ecm1 UTSW 3 95,641,689 (GRCm39) missense probably benign 0.09
Z1088:Ecm1 UTSW 3 95,642,188 (GRCm39) missense probably benign
Z1176:Ecm1 UTSW 3 95,642,188 (GRCm39) missense probably benign
Z1177:Ecm1 UTSW 3 95,642,188 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- GTGTGCGCACTAAAGACAAC -3'
(R):5'- CTGCTGTGGAAAGGAAGCTG -3'

Sequencing Primer
(F):5'- GCCAAATCCAAGAGGCATTTATTG -3'
(R):5'- AAGGAAGCTGGCAGCCTCTG -3'
Posted On 2015-05-15