Mutagenetix > Incidental Mutation

Incidental Mutation 'R6028:Esm1'

480204

Institutional Source

Beutler Lab

Gene Symbol

Esm1

Ensembl Gene

ENSMUSG00000042379

Gene Name

endothelial cell-specific molecule 1

Synonyms

0610042H23Rik

MMRRC Submission

044200-MU

Accession Numbers

Essential gene?

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

Stock #

R6028 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

113346193-113354632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 113353201 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 161 (N161S)

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: N161S

PolyPhen 2 Score 0.735 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000040187
Gene: ENSMUSG00000042379
AA Change: N161S

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

Meta Mutation Damage Score

0.1006

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.8%

Validation Efficiency

100% (72/72)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810062G17Rik	T	A	3: 36,533,718 (GRCm39)		probably null	Het
Acat1	A	T	9: 53,503,366 (GRCm39)	Y158N	probably damaging	Het
Adamtsl1	C	A	4: 86,260,561 (GRCm39)	A924E	probably damaging	Het
Adck1	A	T	12: 88,368,902 (GRCm39)	M127L	probably benign	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Alad	G	T	4: 62,428,359 (GRCm39)	T305K	probably benign	Het
Ankrd33	T	C	15: 101,016,953 (GRCm39)	F65S	probably damaging	Het
Ap3d1	T	C	10: 80,558,761 (GRCm39)	N281S	possibly damaging	Het
Arhgap30	A	G	1: 171,235,888 (GRCm39)	D754G	probably benign	Het
Asah2	T	C	19: 31,993,914 (GRCm39)	D438G	probably damaging	Het
Cachd1	C	A	4: 100,840,753 (GRCm39)	N905K	probably damaging	Het
Cdh23	G	T	10: 60,370,314 (GRCm39)	D160E	probably damaging	Het
Cntln	T	A	4: 84,889,410 (GRCm39)	S298T	probably benign	Het
Cplx3	A	G	9: 57,515,546 (GRCm39)	I443T	probably damaging	Het
Dnah5	T	A	15: 28,387,979 (GRCm39)	M3146K	probably damaging	Het
Doc2b	C	A	11: 75,663,412 (GRCm39)	A347S	probably benign	Het
Efcab3	T	C	11: 104,660,481 (GRCm39)		probably null	Het
Eif1ad16	A	T	12: 87,985,131 (GRCm39)	D137E	possibly damaging	Het
Eps8l2	T	C	7: 140,937,746 (GRCm39)	F422S	possibly damaging	Het
Fbxw10	C	T	11: 62,764,345 (GRCm39)	Q671*	probably null	Het
Fnbp4	C	A	2: 90,581,478 (GRCm39)	T177K	probably benign	Het
Gpr137c	C	A	14: 45,514,938 (GRCm39)	Q266K	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hk1	C	A	10: 62,188,837 (GRCm39)	K25N	probably null	Het
Klhl29	G	T	12: 5,140,995 (GRCm39)	Y616*	probably null	Het
Lmnb1	T	G	18: 56,876,348 (GRCm39)	Y485*	probably null	Het
Lrrc63	A	G	14: 75,323,614 (GRCm39)	S537P	possibly damaging	Het
Ltbp2	T	A	12: 84,831,626 (GRCm39)	N1686I	probably damaging	Het
Map9	T	A	3: 82,287,555 (GRCm39)		probably null	Het
Marco	T	A	1: 120,418,671 (GRCm39)	Q194L	probably damaging	Het
Mc3r	A	T	2: 172,091,129 (GRCm39)	D117V	probably damaging	Het
Meltf	T	A	16: 31,706,294 (GRCm39)	D259E	possibly damaging	Het
Mical1	A	T	10: 41,362,873 (GRCm39)	M973L	probably benign	Het
Mmp21	T	C	7: 133,280,443 (GRCm39)	T176A	probably benign	Het
Mterf1b	T	A	5: 4,247,666 (GRCm39)		probably null	Het
Muc16	G	A	9: 18,568,472 (GRCm39)	S1349F	unknown	Het
Nacc2	A	G	2: 25,951,590 (GRCm39)	V415A	probably damaging	Het
Ncl	A	G	1: 86,283,855 (GRCm39)	V322A	probably benign	Het
Neb	G	A	2: 52,083,243 (GRCm39)	T1639I	probably damaging	Het
Nfia	A	G	4: 97,999,488 (GRCm39)	H485R	possibly damaging	Het
Nlrp9a	C	T	7: 26,257,762 (GRCm39)	T460I	probably benign	Het
Or8g24	T	A	9: 38,989,379 (GRCm39)	I221F	probably damaging	Het
Or8k32	T	A	2: 86,369,113 (GRCm39)	I49F	possibly damaging	Het
Patl2	T	A	2: 121,956,618 (GRCm39)	Q158L	possibly damaging	Het
Pja2	T	C	17: 64,616,085 (GRCm39)	D270G	probably benign	Het
Pkd1l1	T	C	11: 8,786,267 (GRCm39)	H1929R	probably benign	Het
Plekhh3	A	T	11: 101,057,396 (GRCm39)	M287K	probably damaging	Het
Polb	G	T	8: 23,130,011 (GRCm39)	S187*	probably null	Het
Popdc3	A	G	10: 45,194,015 (GRCm39)	D272G	probably benign	Het
Prkar2b	A	T	12: 32,043,757 (GRCm39)	D121E	possibly damaging	Het
Psmd3	T	A	11: 98,576,491 (GRCm39)	L131Q	probably damaging	Het
Ptcd3	A	T	6: 71,875,392 (GRCm39)	C197S	probably damaging	Het
Ptprf	A	T	4: 118,070,826 (GRCm39)	V1391D	probably benign	Het
Purb	A	G	11: 6,425,150 (GRCm39)	F246S	probably damaging	Het
Rgs8	C	A	1: 153,566,734 (GRCm39)	T95N	probably damaging	Het
Slc2a13	T	C	15: 91,160,319 (GRCm39)	N545S	probably damaging	Het
Smpd2	A	G	10: 41,365,344 (GRCm39)	W51R	probably damaging	Het
Srgap1	T	C	10: 121,664,635 (GRCm39)	Q490R	probably null	Het
Strbp	G	A	2: 37,515,267 (GRCm39)	T253I	probably damaging	Het
Sult1d1	A	T	5: 87,707,685 (GRCm39)	M145K	probably damaging	Het
Taf5l	A	C	8: 124,729,714 (GRCm39)		probably null	Het
Tas2r131	T	G	6: 132,934,639 (GRCm39)	I57L	probably benign	Het
Tcf25	A	G	8: 124,108,176 (GRCm39)	N77S	possibly damaging	Het
Tmem253	A	G	14: 52,255,268 (GRCm39)	T57A	possibly damaging	Het
Tspan17	A	G	13: 54,941,111 (GRCm39)	N130S	probably damaging	Het
Utrn	T	C	10: 12,530,460 (GRCm39)	S2118G	probably benign	Het
Vmn2r3	T	A	3: 64,182,698 (GRCm39)	T334S	probably benign	Het
Wnk2	G	T	13: 49,229,821 (GRCm39)	A901E	probably damaging	Het
Zc3hav1	T	C	6: 38,284,275 (GRCm39)	T947A	probably benign	Het
Zfhx3	C	T	8: 109,520,135 (GRCm39)	P419L	probably damaging	Het
Zfp292	A	G	4: 34,819,549 (GRCm39)	S258P	probably damaging	Het
Zfp964	A	G	8: 70,116,563 (GRCm39)	T388A	unknown	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
R6392:Esm1	UTSW	13	113,346,283 (GRCm39)	intron	probably benign
R7679:Esm1	UTSW	13	113,346,646 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGGGAACTGTTGCTAGGTACAC -3'
(R):5'- TACATGTCCACAGCCTATGTTC -3'

Sequencing Primer
(F):5'- TCCTGGCTGGAAGACTCATTCAG -3'
(R):5'- CACAGCCTATGTTCTAGACCG -3'

Posted On

2017-06-26