Mutagenetix > Incidental Mutation

Incidental Mutation 'R3897:Ecm1'

309009

Institutional Source

Beutler Lab

Gene Symbol

Ecm1

Ensembl Gene

ENSMUSG00000028108

Gene Name

extracellular matrix protein 1

Synonyms

p85

MMRRC Submission

040808-MU

Accession Numbers

Essential gene?

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

Stock #

R3897 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

95641459-95646880 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 95643298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 334 (L334P)

Ref Sequence

ENSEMBL: ENSMUSP00000112665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029752] [ENSMUST00000029753] [ENSMUST00000074339] [ENSMUST00000117507] [ENSMUST00000123143] [ENSMUST00000128885] [ENSMUST00000131376] [ENSMUST00000163530] [ENSMUST00000196077] [ENSMUST00000147217] [ENSMUST00000153026] [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 damaging
Transcript: ENSMUST00000029753
AA Change: L333P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000029753
Gene: ENSMUSG00000028108
AA Change: L333P

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: L334P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112665
Gene: ENSMUSG00000028108
AA Change: L334P

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: ENSMUST00000200376

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183853

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155815

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199869

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: 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: 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: 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

Meta Mutation Damage Score

0.6434

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (35/36)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam15	T	C	3: 89,254,245 (GRCm39)	H184R	probably benign	Het
Ap1g1	A	G	8: 110,581,631 (GRCm39)	D633G	probably damaging	Het
Arhgef28	C	T	13: 98,093,084 (GRCm39)	R999H	probably damaging	Het
Armc3	T	C	2: 19,273,988 (GRCm39)	S341P	probably damaging	Het
Cmya5	T	C	13: 93,233,189 (GRCm39)	E633G	possibly damaging	Het
Colgalt1	G	A	8: 72,072,306 (GRCm39)	M275I	probably damaging	Het
Commd7	T	C	2: 153,464,710 (GRCm39)	T23A	probably benign	Het
Cts3	A	G	13: 61,712,800 (GRCm39)	Y307H	probably benign	Het
Dlgap4	C	A	2: 156,587,989 (GRCm39)	P89Q	probably damaging	Het
Fzd8	G	A	18: 9,214,939 (GRCm39)	V674I	possibly damaging	Het
Gosr2	A	G	11: 103,588,472 (GRCm39)	Y5H	possibly damaging	Het
Gria4	T	A	9: 4,513,260 (GRCm39)	D283V	probably damaging	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Iqcm	C	T	8: 76,480,028 (GRCm39)	R329C	probably damaging	Het
Kdm4b	T	C	17: 56,703,955 (GRCm39)	C233R	probably damaging	Het
Ltbp1	T	C	17: 75,581,011 (GRCm39)	C391R	probably damaging	Het
Man2b1	G	T	8: 85,823,577 (GRCm39)		probably benign	Het
Mgat4f	A	G	1: 134,318,176 (GRCm39)	D316G	possibly damaging	Het
Nisch	A	G	14: 30,912,957 (GRCm39)		probably benign	Het
Nrxn2	T	G	19: 6,569,287 (GRCm39)	D1394E	probably damaging	Het
Or4c12	T	C	2: 89,774,153 (GRCm39)	E102G	probably benign	Het
Or4k77	T	C	2: 111,199,106 (GRCm39)	L43P	possibly damaging	Het
Pabpc6	T	C	17: 9,888,056 (GRCm39)	D165G	probably benign	Het
Psat1	A	G	19: 15,896,817 (GRCm39)		probably null	Het
Psd	A	C	19: 46,313,024 (GRCm39)	N115K	possibly damaging	Het
Rfwd3	C	T	8: 112,014,874 (GRCm39)	R326Q	probably damaging	Het
Rnf144a	A	G	12: 26,360,712 (GRCm39)	V275A	probably damaging	Het
Slc35b3	A	G	13: 39,118,739 (GRCm39)	F356L	probably benign	Het
Tmc4	A	G	7: 3,674,087 (GRCm39)	V364A	probably benign	Het
Tmem203	T	C	2: 25,145,935 (GRCm39)	F85S	probably benign	Het
Tra2a	T	C	6: 49,222,476 (GRCm39)		probably benign	Het
Ttc21b	C	T	2: 66,065,413 (GRCm39)	E454K	probably benign	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
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

Predicted Primers

PCR Primer
(F):5'- TCACGGGTGGATGAAGTCAG -3'
(R):5'- ATTCTCTGTCAAGACCCGCC -3'

Sequencing Primer
(F):5'- CTCAAGGTGAACAGACTTGGATGAC -3'
(R):5'- CCCCACCTGTGCTGCAG -3'

Posted On

2015-04-17