Incidental Mutation 'IGL01634:Ecm1'
ID93518
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ecm1
Ensembl Gene ENSMUSG00000028108
Gene Nameextracellular matrix protein 1
Synonymsp85
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.154) question?
Stock #IGL01634
Quality Score
Status
Chromosome3
Chromosomal Location95734147-95739569 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 95734899 bp
ZygosityHeterozygous
Amino Acid Change Proline to Leucine at position 458 (P458L)
Ref Sequence ENSEMBL: ENSMUSP00000112665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029753] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000131376] [ENSMUST00000137912] [ENSMUST00000147217] [ENSMUST00000153026]
Predicted Effect probably damaging
Transcript: ENSMUST00000029753
AA Change: P457L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: P457L

DomainStartEndE-ValueType
Pfam:ECM1 1 558 N/A PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000117507
AA Change: P458L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: P458L

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 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 noncoding transcript
Transcript: ENSMUST00000155815
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183853
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: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700034H15Rik A T 1: 191,900,904 noncoding transcript Het
4933421I07Rik C T 7: 42,447,699 D63N probably benign Het
Alg9 C A 9: 50,775,377 probably null Het
Anln T C 9: 22,360,475 T695A probably benign Het
Aox4 G T 1: 58,221,930 D141Y possibly damaging Het
Arhgap21 C A 2: 20,914,644 Q84H probably benign Het
Arnt G A 3: 95,470,398 probably benign Het
Atp8a2 T A 14: 59,998,062 Y677F probably benign Het
Car6 C T 4: 150,198,153 V12M probably benign Het
Cd209d A T 8: 3,877,974 probably null Het
Ctnna1 T A 18: 35,223,448 V390E probably damaging Het
Cypt4 T A 9: 24,625,656 N147K possibly damaging Het
Dnah10 C A 5: 124,821,341 A3729E probably damaging Het
Dusp8 A G 7: 142,084,423 V156A probably benign Het
Fat3 T G 9: 15,998,358 Y2116S probably damaging Het
Fscn3 T A 6: 28,430,538 Y236N probably damaging Het
Gaa G A 11: 119,274,076 S265N possibly damaging Het
Gas7 T C 11: 67,674,231 probably benign Het
Gbp8 T C 5: 105,018,572 K297R probably damaging Het
Gm1818 G A 12: 48,556,209 noncoding transcript Het
Gm5114 G T 7: 39,408,647 T516K probably benign Het
Hectd1 A G 12: 51,803,779 S165P probably damaging Het
Hoxb4 G T 11: 96,318,900 R44L probably damaging Het
Ivd G A 2: 118,876,382 R285H probably damaging Het
Krtap20-2 T C 16: 89,206,089 F59S unknown Het
Megf8 G A 7: 25,358,781 probably benign Het
Mgat4d A T 8: 83,368,116 M261L possibly damaging Het
Mlc1 A T 15: 88,974,718 probably benign Het
Mmp20 T A 9: 7,635,148 Y43* probably null Het
Morc3 G A 16: 93,873,237 V767I probably benign Het
Myo15 A G 11: 60,495,472 T1808A probably damaging Het
Notch4 T C 17: 34,572,588 F574L probably damaging Het
Npas3 G A 12: 53,947,163 V164M probably damaging Het
Nptx1 A G 11: 119,544,672 Y273H probably damaging Het
Oaf T C 9: 43,224,004 N159S probably damaging Het
Olfr1216 T A 2: 89,013,444 I207F probably damaging Het
Olfr519 A T 7: 108,894,085 F107L probably benign Het
Olfr994 A T 2: 85,430,439 L130H probably damaging Het
Pgm1 T C 5: 64,100,974 F101L probably benign Het
Pkd1l3 A C 8: 109,667,525 probably null Het
Plcd1 C T 9: 119,073,789 R527H probably damaging Het
Rexo2 C T 9: 48,468,915 E206K probably damaging Het
Ropn1 C A 16: 34,666,778 T28N possibly damaging Het
Ropn1 A T 16: 34,666,771 I26F probably damaging Het
Rpgrip1l T A 8: 91,252,544 S998C probably benign Het
Rpgrip1l C A 8: 91,252,543 S998I probably benign Het
Scap T C 9: 110,378,789 probably null Het
Sec23b T C 2: 144,559,230 Y4H probably damaging Het
Sfrp4 C A 13: 19,623,630 D66E possibly damaging Het
Slc25a36 T C 9: 97,080,481 T13A probably benign Het
Synpr A T 14: 13,608,576 I119F possibly damaging Het
Tamm41 A C 6: 115,016,098 H109Q probably benign Het
Tet1 A T 10: 62,878,588 I476K possibly damaging Het
Tg A T 15: 66,729,566 I142F probably benign Het
Thada A T 17: 84,393,358 probably null Het
Triobp T C 15: 78,993,368 L1654P probably damaging Het
Trpm7 A G 2: 126,826,818 V726A probably damaging Het
Txndc15 T G 13: 55,721,625 V197G probably damaging Het
Ubr3 A T 2: 69,973,572 T1169S probably benign Het
Uhmk1 C T 1: 170,207,113 probably null Het
Vmn2r16 T A 5: 109,340,311 M350K probably benign Het
Vmn2r77 G A 7: 86,811,649 V728I probably benign Het
Wipf1 G A 2: 73,447,881 P7S unknown Het
Zswim3 A G 2: 164,820,002 D134G probably damaging Het
Other mutations in Ecm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01686:Ecm1 APN 3 95736064 missense probably benign
IGL01807:Ecm1 APN 3 95736579 missense probably damaging 1.00
IGL01862:Ecm1 APN 3 95734273 missense probably benign 0.08
IGL02006:Ecm1 APN 3 95734244 missense probably damaging 0.98
IGL02134:Ecm1 APN 3 95736187 missense probably damaging 1.00
IGL02210:Ecm1 APN 3 95735977 missense probably damaging 0.97
IGL02813:Ecm1 APN 3 95736786 missense probably damaging 0.99
IGL02959:Ecm1 APN 3 95737677 missense probably damaging 1.00
R0362:Ecm1 UTSW 3 95737057 missense possibly damaging 0.93
R0963:Ecm1 UTSW 3 95736588 missense possibly damaging 0.95
R1181:Ecm1 UTSW 3 95735350 missense possibly damaging 0.85
R1230:Ecm1 UTSW 3 95735426 splice site probably null
R1483:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1484:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1559:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1561:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1562:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1590:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R1591:Ecm1 UTSW 3 95735963 missense probably damaging 1.00
R2110:Ecm1 UTSW 3 95735942 missense probably benign 0.14
R3236:Ecm1 UTSW 3 95734846 missense possibly damaging 0.71
R3897:Ecm1 UTSW 3 95735986 missense probably damaging 0.99
R4084:Ecm1 UTSW 3 95734363 missense probably damaging 0.98
R4770:Ecm1 UTSW 3 95737961 unclassified probably benign
R4985:Ecm1 UTSW 3 95736103 missense possibly damaging 0.55
R5506:Ecm1 UTSW 3 95735857 missense probably benign 0.00
R5861:Ecm1 UTSW 3 95736597 missense probably damaging 1.00
R7472:Ecm1 UTSW 3 95735320 missense possibly damaging 0.93
R7678:Ecm1 UTSW 3 95736182 missense probably damaging 0.97
R7704:Ecm1 UTSW 3 95736531 missense probably damaging 0.99
R7864:Ecm1 UTSW 3 95734376 missense probably benign 0.09
Z1088:Ecm1 UTSW 3 95734876 missense probably benign
Z1176:Ecm1 UTSW 3 95734876 missense probably benign
Z1177:Ecm1 UTSW 3 95734876 missense probably benign
Posted On2013-12-09