Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02813:Ecm1'

360664

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: 0.223) question?

Stock #

IGL02813

Quality Score

Status

Chromosome

Chromosomal Location

95641459-95646880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 95644098 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 169 (P169S)

Ref Sequence

ENSEMBL: ENSMUSP00000114747 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000029753] [ENSMUST00000074339] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000131376] [ENSMUST00000153026] [ENSMUST00000137912] [ENSMUST00000163530] [ENSMUST00000196077] [ENSMUST00000199464] [ENSMUST00000147217]

AlphaFold

Q61508

Predicted Effect

probably benign
Transcript: ENSMUST00000029752

SMART Domains

Protein: ENSMUSP00000029752
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000029753
AA Change: P150S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: P150S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	558	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000074339

SMART Domains

Protein: ENSMUSP00000073946
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000117507
AA Change: P151S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: P151S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	559	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123143
AA Change: P134S

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120300
Gene: ENSMUSG00000028108
AA Change: P134S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	266	4.4e-132	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000128885
AA Change: P143S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000120820
Gene: ENSMUSG00000028108
AA Change: P143S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	251	1.5e-135	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131376
AA Change: P167S

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108
AA Change: P167S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	295	4.2e-146	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000153026
AA Change: P169S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000114747
Gene: ENSMUSG00000028108
AA Change: P169S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	230	1.3e-100	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000137912
AA Change: P133S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122243
Gene: ENSMUSG00000028108
AA Change: P133S

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	140	1.8e-39	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144958

Predicted Effect

probably benign
Transcript: ENSMUST00000163530

SMART Domains

Protein: ENSMUSP00000130269
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
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: ENSMUST00000196077

SMART Domains

Protein: ENSMUSP00000143722
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	65	125	5e-13	PFAM
tRNA_SAD	232	264	7.5e-5	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000199464

SMART Domains

Protein: ENSMUSP00000143328
Gene: ENSMUSG00000028107

Domain	Start	End	E-Value	Type
Pfam:TGS	66	126	1.1e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147217

SMART Domains

Protein: ENSMUSP00000115524
Gene: ENSMUSG00000028108

Domain	Start	End	E-Value	Type
Pfam:ECM1	1	80	5.2e-40	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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy1	C	A	11: 7,096,591 (GRCm39)	Q660K	possibly damaging	Het
Arhgap5	A	C	12: 52,563,748 (GRCm39)	T240P	probably benign	Het
Arhgef7	C	T	8: 11,850,767 (GRCm39)		probably benign	Het
Cttnbp2	C	A	6: 18,367,537 (GRCm39)	V1594F	possibly damaging	Het
Cyp2a22	G	T	7: 26,635,859 (GRCm39)	Q235K	probably benign	Het
Dennd11	C	T	6: 40,395,473 (GRCm39)	V212I	probably benign	Het
Dynlt5	A	G	4: 102,849,769 (GRCm39)	N64S	probably damaging	Het
Emilin3	G	A	2: 160,750,649 (GRCm39)	Q320*	probably null	Het
Ern1	T	C	11: 106,314,251 (GRCm39)	D183G	probably damaging	Het
Gpat2	T	C	2: 127,276,375 (GRCm39)	V635A	possibly damaging	Het
Gria1	A	G	11: 57,174,410 (GRCm39)	N564S	probably damaging	Het
Grtp1	A	C	8: 13,236,945 (GRCm39)	I173S	possibly damaging	Het
Hsd17b4	A	G	18: 50,261,415 (GRCm39)		probably benign	Het
Lrp1b	T	C	2: 40,569,229 (GRCm39)		probably null	Het
Mark4	A	T	7: 19,181,181 (GRCm39)		probably null	Het
Mphosph9	T	C	5: 124,453,691 (GRCm39)	D207G	probably benign	Het
Mrgprd	A	G	7: 144,875,251 (GRCm39)	M41V	probably benign	Het
Myo1g	T	C	11: 6,468,743 (GRCm39)	*66W	probably null	Het
Neto2	C	A	8: 86,417,515 (GRCm39)	D30Y	probably benign	Het
Nlrp6	A	T	7: 140,503,333 (GRCm39)	I450F	possibly damaging	Het
Nup155	T	A	15: 8,159,605 (GRCm39)		probably benign	Het
Or4c11c	A	G	2: 88,661,495 (GRCm39)	I11M	probably benign	Het
Pcdhb10	T	G	18: 37,546,815 (GRCm39)	S630R	possibly damaging	Het
Rwdd4a	T	C	8: 47,990,396 (GRCm39)		probably null	Het
Slc12a7	T	A	13: 73,961,795 (GRCm39)		probably benign	Het
Slc22a20	C	T	19: 6,034,886 (GRCm39)	V192I	probably benign	Het
Slc9a2	T	A	1: 40,781,829 (GRCm39)	S353T	probably damaging	Het
Srgap3	A	G	6: 112,708,441 (GRCm39)	F753L	probably damaging	Het
Tcea1	C	T	1: 4,956,979 (GRCm39)	T93I	probably benign	Het
Tecpr2	A	T	12: 110,899,626 (GRCm39)	S665C	probably damaging	Het
Tor4a	C	A	2: 25,084,761 (GRCm39)	E381*	probably null	Het
Vdr	A	G	15: 97,767,562 (GRCm39)	Y143H	probably benign	Het
Vmn2r91	A	C	17: 18,356,348 (GRCm39)	T672P	possibly damaging	Het
Wdr41	A	G	13: 95,131,753 (GRCm39)		probably null	Het

Other mutations in Ecm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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

2015-12-18