Mutagenetix > Incidental Mutation

Incidental Mutation 'R4770:Ecm1'

367389

Institutional Source

Beutler Lab

Gene Symbol

Ecm1

Ensembl Gene

ENSMUSG00000028108

Gene Name

extracellular matrix protein 1

Synonyms

p85

MMRRC Submission

042410-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.190) question?

Stock #

R4770 (G1)

Quality Score

182

Status

Validated

Chromosome

Chromosomal Location

95641459-95646880 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 95645273 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000143328 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000029753

SMART Domains

Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108

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 benign
Transcript: ENSMUST00000117507

SMART Domains

Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123143

SMART Domains

Protein: ENSMUSP00000120300
Gene: ENSMUSG00000028108

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128885

SMART Domains

Protein: ENSMUSP00000120820
Gene: ENSMUSG00000028108

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

Predicted Effect

probably benign
Transcript: ENSMUST00000131376

SMART Domains

Protein: ENSMUSP00000114659
Gene: ENSMUSG00000028108

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199869

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000200376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144958

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

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: ENSMUST00000153026

SMART Domains

Protein: ENSMUSP00000114747
Gene: ENSMUSG00000028108

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

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: 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: ENSMUST00000137912

SMART Domains

Protein: ENSMUSP00000122243
Gene: ENSMUSG00000028108

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

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.7%

Validation Efficiency

93% (89/96)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	G	11: 109,962,341 (GRCm39)	V503A	possibly damaging	Het
Agps	T	A	2: 75,722,199 (GRCm39)	F463Y	possibly damaging	Het
Ajm1	G	A	2: 25,469,759 (GRCm39)	R51C	possibly damaging	Het
Amigo3	A	T	9: 107,930,734 (GRCm39)	L52F	probably damaging	Het
Anapc1	T	C	2: 128,527,980 (GRCm39)		probably benign	Het
Ankrd36	G	T	11: 5,540,870 (GRCm39)	C312F	possibly damaging	Het
Asic2	A	C	11: 80,862,318 (GRCm39)	D226E	probably benign	Het
Atp8b2	T	A	3: 89,864,374 (GRCm39)	Q197L	probably damaging	Het
C2cd3	A	G	7: 100,092,642 (GRCm39)	Y495C	probably damaging	Het
Ccdc51	A	G	9: 108,919,978 (GRCm39)	T125A	probably benign	Het
Ccser1	A	G	6: 61,288,485 (GRCm39)	Y216C	possibly damaging	Het
Cimap1b	A	G	15: 89,263,326 (GRCm39)	I19T	probably damaging	Het
Cntfr	A	T	4: 41,663,282 (GRCm39)	I175N	possibly damaging	Het
Cox10	G	A	11: 63,854,989 (GRCm39)	R431W	probably benign	Het
Cubn	T	C	2: 13,319,578 (GRCm39)	T2881A	possibly damaging	Het
Cyp2d9	T	A	15: 82,336,774 (GRCm39)	V41E	probably damaging	Het
Dmrtb1	C	T	4: 107,540,986 (GRCm39)	G125D	probably benign	Het
Dscaml1	C	T	9: 45,581,404 (GRCm39)	R408C	probably damaging	Het
Duox2	A	T	2: 122,115,397 (GRCm39)	S1052T	probably benign	Het
Edrf1	G	T	7: 133,260,339 (GRCm39)	M83I	probably damaging	Het
Epb41l1	T	A	2: 156,371,344 (GRCm39)	M727K	probably benign	Het
Exosc9	T	C	3: 36,607,984 (GRCm39)	V64A	probably damaging	Het
Ezh2	A	T	6: 47,517,630 (GRCm39)	I564N	probably damaging	Het
Fam89b	C	A	19: 5,779,482 (GRCm39)	R25L	probably damaging	Het
Fgr	C	T	4: 132,714,602 (GRCm39)	T98M	probably damaging	Het
Fhip2b	T	A	14: 70,825,727 (GRCm39)	D351V	probably damaging	Het
Gapvd1	A	G	2: 34,581,193 (GRCm39)	S1089P	probably damaging	Het
Gbp5	A	T	3: 142,213,837 (GRCm39)	I544F	possibly damaging	Het
Gli2	C	A	1: 118,910,318 (GRCm39)		probably benign	Het
Gm9934	A	G	7: 92,702,192 (GRCm39)		noncoding transcript	Het
Greb1	A	T	12: 16,731,357 (GRCm39)	D1660E	probably benign	Het
Gtf2i	T	A	5: 134,272,414 (GRCm39)	N750I	possibly damaging	Het
H2-DMb2	G	C	17: 34,367,698 (GRCm39)	D171H	probably damaging	Het
Il11ra1	A	G	4: 41,768,187 (GRCm39)	E366G	probably damaging	Het
Itga2b	A	G	11: 102,351,582 (GRCm39)	F581S	probably damaging	Het
Itsn2	T	A	12: 4,677,892 (GRCm39)	M83K	probably damaging	Het
Kif27	G	A	13: 58,492,191 (GRCm39)	T316M	probably damaging	Het
Lad1	A	T	1: 135,753,531 (GRCm39)	Q26L	probably damaging	Het
Lrrn3	T	A	12: 41,502,442 (GRCm39)	H625L	probably benign	Het
Mast1	A	G	8: 85,655,875 (GRCm39)	V155A	probably benign	Het
Mast3	G	A	8: 71,238,864 (GRCm39)	T480M	probably damaging	Het
Mpc1	C	T	17: 8,512,377 (GRCm39)		probably benign	Het
Mycbp2	T	A	14: 103,457,380 (GRCm39)	M1606L	probably benign	Het
Myo1c	T	A	11: 75,551,139 (GRCm39)	L238*	probably null	Het
Nanog	T	G	6: 122,688,550 (GRCm39)	S44A	possibly damaging	Het
Neb	T	C	2: 52,039,165 (GRCm39)	Q6958R	probably benign	Het
Ngef	C	T	1: 87,405,283 (GRCm39)	R709H	probably damaging	Het
Nr1d1	A	G	11: 98,661,471 (GRCm39)	V265A	probably benign	Het
Nr3c2	A	G	8: 77,634,872 (GRCm39)		probably null	Het
Olfm5	A	G	7: 103,809,685 (GRCm39)	S164P	probably benign	Het
Parvb	T	C	15: 84,188,106 (GRCm39)		probably null	Het
Pde4dip	G	T	3: 97,674,400 (GRCm39)	A172D	probably damaging	Het
Phf2	A	G	13: 48,957,079 (GRCm39)	L1096P	probably damaging	Het
Pik3r6	T	A	11: 68,420,720 (GRCm39)	V155E	probably damaging	Het
Pinx1	T	G	14: 64,109,820 (GRCm39)	V124G	probably damaging	Het
Poglut1	A	G	16: 38,355,119 (GRCm39)	Y236H	probably damaging	Het
Pou4f2	T	A	8: 79,163,030 (GRCm39)	M2L	unknown	Het
Ppfia2	G	C	10: 106,597,978 (GRCm39)	L180F	probably damaging	Het
Pramel26	C	T	4: 143,538,519 (GRCm39)	E151K	probably damaging	Het
Prkaca	A	G	8: 84,717,499 (GRCm39)	N209S	probably benign	Het
Ring1	G	A	17: 34,242,361 (GRCm39)	P49S	probably damaging	Het
Rnf20	T	A	4: 49,633,412 (GRCm39)		probably null	Het
Rnf25	G	A	1: 74,633,099 (GRCm39)	R418C	probably damaging	Het
Ryr1	G	T	7: 28,808,707 (GRCm39)	P462Q	probably damaging	Het
Serpinb3d	A	G	1: 107,006,008 (GRCm39)	F360S	probably damaging	Het
Setd7	T	C	3: 51,428,843 (GRCm39)	E329G	probably damaging	Het
Slco2b1	C	T	7: 99,320,156 (GRCm39)		probably null	Het
Snap91	G	A	9: 86,655,654 (GRCm39)	T844I	possibly damaging	Het
Snhg5	C	T	9: 88,404,424 (GRCm39)		noncoding transcript	Het
Son	T	A	16: 91,455,756 (GRCm39)	V1501E	probably damaging	Het
Syncrip	T	A	9: 88,361,905 (GRCm39)	E70V	probably damaging	Het
Tas2r125	A	G	6: 132,886,750 (GRCm39)	D46G	probably damaging	Het
Tmem115	G	A	9: 107,412,156 (GRCm39)	R160Q	probably benign	Het
Trerf1	G	A	17: 47,630,581 (GRCm39)		noncoding transcript	Het
Tut7	A	G	13: 59,920,698 (GRCm39)		probably benign	Het
Uggt2	A	T	14: 119,266,466 (GRCm39)		probably null	Het
Ush2a	G	T	1: 188,282,076 (GRCm39)	V1864F	probably benign	Het
Xkr4	A	T	1: 3,286,714 (GRCm39)	V492D	probably damaging	Het
Zfp646	T	A	7: 127,482,649 (GRCm39)	S1609T	possibly damaging	Het
Zfp65	A	T	13: 67,856,477 (GRCm39)	H277Q	probably damaging	Het
Zfp69	A	G	4: 120,791,614 (GRCm39)	S176P	probably damaging	Het
Zfp747	C	T	7: 126,974,971 (GRCm39)	A10T	probably damaging	Het
Zfp850	T	C	7: 27,684,411 (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
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
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'- AGTGTCAGCATCACAGTGGG -3'
(R):5'- CAATTGGGAGGCTCTGAGTGTC -3'

Sequencing Primer
(F):5'- ATCACAGTGGGGTGGGC -3'
(R):5'- AGGCTCTGAGTGTCTCCCC -3'

Posted On

2015-12-29