Mutagenetix > Incidental Mutation

Incidental Mutation 'R6392:Esm1'

515825

Institutional Source

Beutler Lab

Gene Symbol

Esm1

Ensembl Gene

ENSMUSG00000042379

Gene Name

endothelial cell-specific molecule 1

Synonyms

0610042H23Rik

MMRRC Submission

044541-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R6392 (G1)

Quality Score

129.008

Status

Not validated

Chromosome

Chromosomal Location

113346193-113354632 bp(+) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

G to A at 113346283 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000113530 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038144] [ENSMUST00000122399]

AlphaFold

Q9QYY7

Predicted Effect

probably benign
Transcript: ENSMUST00000038144

SMART Domains

Protein: ENSMUSP00000040187
Gene: ENSMUSG00000042379

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
IB	26	101	2.51e-20	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122399

SMART Domains

Protein: ENSMUSP00000113530
Gene: ENSMUSG00000042385

Domain	Start	End	E-Value	Type
Tryp_SPc	1	214	9.28e-70	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.8%
10x: 98.9%
20x: 96.1%

Validation Efficiency

96% (47/49)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a secreted protein which is mainly expressed in the endothelial cells in human lung and kidney tissues. The expression of this gene is regulated by cytokines, suggesting that it may play a role in endothelium-dependent pathological disorders. The transcript contains multiple polyadenylation and mRNA instability signals. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008]

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,825,526 (GRCm39)	I330F	probably damaging	Het
Abcc9	A	G	6: 142,627,825 (GRCm39)	S402P	probably damaging	Het
Ada	A	G	2: 163,570,137 (GRCm39)	L292P	probably damaging	Het
Adam34l	A	T	8: 44,079,038 (GRCm39)	N395K	probably benign	Het
Adra1d	T	C	2: 131,403,529 (GRCm39)	D187G	probably damaging	Het
AI467606	C	A	7: 126,691,717 (GRCm39)	Y97*	probably null	Het
Arid2	A	G	15: 96,259,483 (GRCm39)	E245G	probably damaging	Het
Ccdc78	C	G	17: 26,007,148 (GRCm39)	Q213E	probably damaging	Het
Cntnap1	G	T	11: 101,077,472 (GRCm39)	D1045Y	probably damaging	Het
Ctcf	T	C	8: 106,390,765 (GRCm39)	V124A	probably damaging	Het
Cutc	T	C	19: 43,748,489 (GRCm39)	S129P	possibly damaging	Het
Dhx36	T	C	3: 62,401,790 (GRCm39)	I308V	probably benign	Het
Disp2	T	C	2: 118,621,230 (GRCm39)	V654A	probably damaging	Het
Extl1	C	T	4: 134,091,945 (GRCm39)	V303I	probably benign	Het
Ezh1	G	T	11: 101,094,630 (GRCm39)	D387E	probably damaging	Het
Fbf1	T	A	11: 116,043,775 (GRCm39)		probably null	Het
Fbxl12	T	C	9: 20,550,472 (GRCm39)	H84R	probably damaging	Het
Fbxo6	C	T	4: 148,230,462 (GRCm39)	V267I	probably benign	Het
Helz	G	T	11: 107,493,167 (GRCm39)	A197S	possibly damaging	Het
Ikbke	T	C	1: 131,202,883 (GRCm39)		probably null	Het
Kbtbd13	A	G	9: 65,297,619 (GRCm39)	F439S	possibly damaging	Het
Kif7	G	A	7: 79,351,934 (GRCm39)	R943W	probably damaging	Het
Lrp12	C	T	15: 39,735,415 (GRCm39)	C839Y	probably damaging	Het
Matr3	A	G	18: 35,717,894 (GRCm39)	D364G	probably benign	Het
Ncam1	T	C	9: 49,434,875 (GRCm39)	K624E	probably damaging	Het
Nup205	T	C	6: 35,166,820 (GRCm39)	S280P	possibly damaging	Het
Or4a66	A	T	2: 88,531,011 (GRCm39)	Y221N	probably damaging	Het
Or52a33	A	C	7: 103,288,889 (GRCm39)	C153G	probably benign	Het
Pira2	A	T	7: 3,846,901 (GRCm39)	S214T	possibly damaging	Het
Prss3b	T	C	6: 41,009,306 (GRCm39)	Y176C	probably damaging	Het
Ptpn4	T	A	1: 119,700,853 (GRCm39)	I30F	probably benign	Het
Rnf144a	T	C	12: 26,360,779 (GRCm39)	I253V	possibly damaging	Het
Sh3pxd2b	T	A	11: 32,373,302 (GRCm39)	L823Q	possibly damaging	Het
Sh3rf3	A	T	10: 58,842,898 (GRCm39)	D288V	probably damaging	Het
Shprh	T	A	10: 11,054,485 (GRCm39)	Y1031*	probably null	Het
Sidt1	T	C	16: 44,111,657 (GRCm39)	T173A	possibly damaging	Het
Smc1b	C	T	15: 84,976,232 (GRCm39)	R825Q	probably benign	Het
Ssh3	C	T	19: 4,315,399 (GRCm39)	R309H	probably benign	Het
Tagap	G	T	17: 8,152,893 (GRCm39)	G693W	probably damaging	Het
Tango2	T	A	16: 18,119,403 (GRCm39)	I143F	probably damaging	Het
Thsd7a	T	C	6: 12,468,928 (GRCm39)	H550R	probably damaging	Het
Tmem131	T	A	1: 36,920,423 (GRCm39)	Q92H	probably benign	Het
Tnfrsf21	T	C	17: 43,327,979 (GRCm39)	L31P	probably benign	Het
Ttn	A	T	2: 76,730,487 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,926,268 (GRCm39)	D493G	probably damaging	Het
Unc13a	C	T	8: 72,090,453 (GRCm39)	G1411D	possibly damaging	Het
Vmn2r106	C	T	17: 20,488,725 (GRCm39)	C558Y	probably damaging	Het
Zfc3h1	A	T	10: 115,237,653 (GRCm39)	R477S	probably damaging	Het
Zfp87	C	T	13: 67,664,986 (GRCm39)	R492K	probably benign	Het

Other mutations in Esm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01385:Esm1	APN	13	113,353,216 (GRCm39)	missense	possibly damaging	0.59
IGL02068:Esm1	APN	13	113,346,630 (GRCm39)	missense	probably damaging	1.00
IGL02869:Esm1	APN	13	113,346,618 (GRCm39)	missense	probably damaging	1.00
R0145:Esm1	UTSW	13	113,353,230 (GRCm39)	missense	probably damaging	0.96
R0730:Esm1	UTSW	13	113,350,036 (GRCm39)	critical splice donor site	probably null
R1754:Esm1	UTSW	13	113,353,230 (GRCm39)	missense	probably damaging	1.00
R4693:Esm1	UTSW	13	113,346,594 (GRCm39)	missense	probably damaging	1.00
R4945:Esm1	UTSW	13	113,346,679 (GRCm39)	critical splice donor site	probably null
R4993:Esm1	UTSW	13	113,349,933 (GRCm39)	nonsense	probably null
R4994:Esm1	UTSW	13	113,349,965 (GRCm39)	missense	probably benign	0.12
R5075:Esm1	UTSW	13	113,349,892 (GRCm39)	missense	probably damaging	1.00
R6028:Esm1	UTSW	13	113,353,201 (GRCm39)	missense	possibly damaging	0.74
R7679:Esm1	UTSW	13	113,346,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2018-05-04