Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01385:Esm1'

79012

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Esm1

Ensembl Gene

ENSMUSG00000042379

Gene Name

endothelial cell-specific molecule 1

Synonyms

0610042H23Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL01385

Quality Score

Status

Chromosome

Chromosomal Location

113346193-113354632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 113353216 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Alanine at position 166 (E166A)

Ref Sequence

ENSEMBL: ENSMUSP00000040187 (fasta)

Gene Model

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

AlphaFold

Q9QYY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038144
AA Change: E166A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000040187
Gene: ENSMUSG00000042379
AA Change: E166A

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

Validation Efficiency

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,057,346 (GRCm39)	S292R	probably damaging	Het
Adamts19	A	G	18: 59,105,851 (GRCm39)	T749A	probably damaging	Het
Agap2	A	T	10: 126,923,865 (GRCm39)	I747F	unknown	Het
Arhgap35	T	A	7: 16,298,399 (GRCm39)	N222I	probably damaging	Het
Atp10b	A	G	11: 43,125,256 (GRCm39)	E1074G	probably damaging	Het
Brd3	T	C	2: 27,354,101 (GRCm39)	T4A	possibly damaging	Het
Col6a6	A	G	9: 105,660,865 (GRCm39)	S415P	probably damaging	Het
Dennd2a	A	G	6: 39,500,070 (GRCm39)	V165A	probably damaging	Het
Dnm1l	T	A	16: 16,159,317 (GRCm39)	E95V	probably damaging	Het
Dock9	A	G	14: 121,817,995 (GRCm39)	Y1609H	possibly damaging	Het
F2rl2	A	C	13: 95,837,836 (GRCm39)	I294L	probably benign	Het
Gstt3	A	G	10: 75,610,822 (GRCm39)	S187P	probably benign	Het
Katna1	T	C	10: 7,628,574 (GRCm39)	C268R	probably damaging	Het
Mbd5	T	A	2: 49,140,233 (GRCm39)	C66S	possibly damaging	Het
Naa35	G	A	13: 59,748,880 (GRCm39)	E167K	probably damaging	Het
Or10ak16	T	C	4: 118,750,748 (GRCm39)	L156S	probably benign	Het
Osbpl2	A	G	2: 179,778,873 (GRCm39)	N2S	probably benign	Het
Parp6	T	C	9: 59,537,895 (GRCm39)		probably benign	Het
Pcdhb5	T	A	18: 37,455,267 (GRCm39)	V549E	probably benign	Het
Pcnx4	T	C	12: 72,620,520 (GRCm39)	L780P	probably damaging	Het
Plcb3	A	T	19: 6,935,276 (GRCm39)	D851E	probably benign	Het
Ppfia2	A	G	10: 106,749,560 (GRCm39)	S1149G	probably damaging	Het
Prkca	A	G	11: 107,869,178 (GRCm39)	V469A	probably damaging	Het
Ryr1	A	T	7: 28,756,410 (GRCm39)	V3468D	probably damaging	Het
Spmip3	G	A	1: 177,568,640 (GRCm39)	G46R	probably benign	Het
Stxbp4	A	G	11: 90,431,074 (GRCm39)	V412A	possibly damaging	Het
Vmn1r238	G	T	18: 3,122,770 (GRCm39)	Q215K	possibly damaging	Het
Wdr11	A	G	7: 129,209,637 (GRCm39)	M482V	probably benign	Het
Wdr72	T	C	9: 74,086,788 (GRCm39)		probably benign	Het
Xirp2	T	C	2: 67,340,021 (GRCm39)	L754P	probably damaging	Het
Zmym6	G	A	4: 127,017,899 (GRCm39)	G1135S	probably benign	Het

Other mutations in Esm1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6392:Esm1	UTSW	13	113,346,283 (GRCm39)	intron	probably benign
R7679:Esm1	UTSW	13	113,346,646 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-11-05