Incidental Mutation 'IGL01686:Ecm1'
ID 103954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecm1
Ensembl Gene ENSMUSG00000028108
Gene Name extracellular matrix protein 1
Synonyms p85
Accession Numbers
Essential gene? Probably non essential (E-score: 0.190) question?
Stock # IGL01686
Quality Score
Status
Chromosome 3
Chromosomal Location 95641459-95646880 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 95643376 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Isoleucine at position 308 (N308I)
Ref Sequence ENSEMBL: ENSMUSP00000112665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000029753] [ENSMUST00000074339] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000163530] [ENSMUST00000137912] [ENSMUST00000199464] [ENSMUST00000147217] [ENSMUST00000153026] [ENSMUST00000196077] [ENSMUST00000131376]
AlphaFold Q61508
Predicted Effect probably benign
Transcript: ENSMUST00000029752
SMART Domains Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 5.6e-14 PFAM
tRNA_SAD 233 282 1.15e-10 SMART
Pfam:tRNA-synt_2b 400 608 2.4e-32 PFAM
Pfam:HGTP_anticodon 620 711 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000029753
AA Change: N307I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: N307I

DomainStartEndE-ValueType
Pfam:ECM1 1 558 N/A PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000074339
SMART Domains Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.3e-15 PFAM
tRNA_SAD 233 282 1.15e-10 SMART
Pfam:tRNA-synt_2b 336 519 2.8e-39 PFAM
Pfam:HGTP_anticodon 594 685 5.4e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000117507
AA Change: N308I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: N308I

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 noncoding transcript
Transcript: ENSMUST00000183853
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144958
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199869
Predicted Effect noncoding transcript
Transcript: ENSMUST00000200376
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155815
Predicted Effect probably benign
Transcript: ENSMUST00000163530
SMART Domains Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 2.6e-15 PFAM
tRNA_SAD 152 201 1.15e-10 SMART
Pfam:tRNA-synt_2b 255 438 8.6e-40 PFAM
Pfam:HGTP_anticodon 539 630 1.6e-20 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 probably benign
Transcript: ENSMUST00000199464
SMART Domains Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 66 126 1.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000147217
SMART Domains Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 80 5.2e-40 PFAM
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: ENSMUST00000196077
SMART Domains Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107

DomainStartEndE-ValueType
Pfam:TGS 65 125 5e-13 PFAM
tRNA_SAD 232 264 7.5e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131376
SMART Domains Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108

DomainStartEndE-ValueType
Pfam:ECM1 1 295 4.2e-146 PFAM
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 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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc9 A G 6: 142,548,801 (GRCm39) V1316A possibly damaging Het
Ada T G 2: 163,572,236 (GRCm39) K254N probably benign Het
Adamts17 A G 7: 66,490,037 (GRCm39) R40G probably benign Het
Akr1d1 C T 6: 37,507,178 (GRCm39) probably benign Het
Aldh1l1 T A 6: 90,536,215 (GRCm39) probably benign Het
Bbox1 T A 2: 110,095,831 (GRCm39) I378F probably benign Het
BC028528 T C 3: 95,796,212 (GRCm39) N50S probably damaging Het
Casp8ap2 T A 4: 32,641,294 (GRCm39) S783T possibly damaging Het
Cmpk2 C T 12: 26,527,177 (GRCm39) R389W probably damaging Het
Cplx1 C T 5: 108,696,393 (GRCm39) probably null Het
Crim1 T C 17: 78,651,863 (GRCm39) L529P probably benign Het
Ctps1 A G 4: 120,411,183 (GRCm39) S278P probably benign Het
Defb21 C A 2: 152,416,821 (GRCm39) probably benign Het
Flg2 T C 3: 93,109,591 (GRCm39) S540P unknown Het
Gabrp G T 11: 33,502,826 (GRCm39) S346* probably null Het
Gli2 C A 1: 118,776,165 (GRCm39) C419F probably damaging Het
Grid2 T A 6: 64,297,180 (GRCm39) F514L probably benign Het
Hormad1 T G 3: 95,485,580 (GRCm39) M256R probably benign Het
Itsn2 T G 12: 4,686,693 (GRCm39) probably benign Het
Klhl38 A T 15: 58,186,707 (GRCm39) D7E probably benign Het
Map3k1 G A 13: 111,891,196 (GRCm39) T1248I possibly damaging Het
Mki67 A T 7: 135,309,542 (GRCm39) V303E probably benign Het
Mterf4 A T 1: 93,232,443 (GRCm39) L136* probably null Het
Mtmr14 A G 6: 113,217,391 (GRCm39) D61G possibly damaging Het
Nf2 A T 11: 4,768,613 (GRCm39) D85E probably benign Het
Nmnat2 G T 1: 152,952,743 (GRCm39) probably benign Het
Olfm3 T A 3: 114,916,497 (GRCm39) D476E probably benign Het
Or14c45 T C 7: 86,175,986 (GRCm39) V7A probably benign Het
Or8b53 T A 9: 38,667,550 (GRCm39) C189S probably damaging Het
Pdia6 T C 12: 17,333,958 (GRCm39) probably benign Het
Prrg1 G A X: 77,527,388 (GRCm39) A47V probably damaging Het
Rgs22 A T 15: 36,103,981 (GRCm39) I160K probably benign Het
Sardh T C 2: 27,079,625 (GRCm39) Y889C probably damaging Het
Syne2 C A 12: 75,956,110 (GRCm39) D605E probably benign Het
Other mutations in Ecm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01634:Ecm1 APN 3 95,642,211 (GRCm39) missense probably damaging 1.00
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
R4084:Ecm1 UTSW 3 95,641,676 (GRCm39) missense probably damaging 0.98
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
Posted On 2014-01-21