Incidental Mutation 'R4693:Esm1'
ID 355060
Institutional Source Beutler Lab
Gene Symbol Esm1
Ensembl Gene ENSMUSG00000042379
Gene Name endothelial cell-specific molecule 1
Synonyms 0610042H23Rik
MMRRC Submission 041944-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.095) question?
Stock # R4693 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 113346193-113354632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 113346594 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 73 (D73V)
Ref Sequence ENSEMBL: ENSMUSP00000040187 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038144] [ENSMUST00000122399]
AlphaFold Q9QYY7
Predicted Effect probably damaging
Transcript: ENSMUST00000038144
AA Change: D73V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000040187
Gene: ENSMUSG00000042379
AA Change: D73V

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Tryp_SPc 1 214 9.28e-70 SMART
Meta Mutation Damage Score 0.2456 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.7%
Validation Efficiency 100% (79/79)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 T C 17: 85,004,125 (GRCm39) Y478H probably damaging Het
Adar A T 3: 89,643,247 (GRCm39) H128L probably damaging Het
Angptl6 G T 9: 20,786,598 (GRCm39) D349E probably damaging Het
Anxa9 T C 3: 95,204,667 (GRCm39) T286A probably benign Het
Apobr A G 7: 126,186,019 (GRCm39) N510S probably damaging Het
Atoh7 G T 10: 62,936,275 (GRCm39) R114L probably benign Het
Bank1 C G 3: 135,953,437 (GRCm39) R106P probably damaging Het
Best1 C T 19: 9,974,499 (GRCm39) G15D probably damaging Het
Best2 A T 8: 85,737,832 (GRCm39) F188I probably damaging Het
Ccdc88a T C 11: 29,432,241 (GRCm39) Y344H probably damaging Het
Col6a5 A G 9: 105,814,371 (GRCm39) L547P unknown Het
Cyp19a1 A T 9: 54,080,617 (GRCm39) S247T possibly damaging Het
Cyp26a1 T C 19: 37,686,925 (GRCm39) S126P probably benign Het
Dab1 G T 4: 104,536,750 (GRCm39) C180F probably damaging Het
Dclk2 T C 3: 86,722,400 (GRCm39) D412G possibly damaging Het
Dspp A T 5: 104,325,928 (GRCm39) S764C unknown Het
Dync1li1 C A 9: 114,535,166 (GRCm39) D143E probably damaging Het
Etfdh A T 3: 79,513,110 (GRCm39) V431E probably damaging Het
Fam83c C T 2: 155,672,154 (GRCm39) R427H probably damaging Het
Galnt9 A G 5: 110,763,375 (GRCm39) Y93C probably damaging Het
Gm6818 G A 7: 38,100,126 (GRCm39) noncoding transcript Het
Gosr2 A G 11: 103,574,755 (GRCm39) S114P probably benign Het
Grip1 G A 10: 119,836,459 (GRCm39) V444I probably benign Het
Gvin-ps3 T G 7: 105,681,585 (GRCm39) noncoding transcript Het
Haus4 G T 14: 54,787,256 (GRCm39) A67E probably benign Het
Hectd2 T A 19: 36,591,738 (GRCm39) probably benign Het
Kndc1 T C 7: 139,501,695 (GRCm39) Y911H probably benign Het
Lim2 T C 7: 43,080,105 (GRCm39) Y31H probably damaging Het
Lims2 G A 18: 32,077,552 (GRCm39) R101H probably benign Het
Lrrc2 T A 9: 110,799,161 (GRCm39) M236K probably damaging Het
Lrrc37 T A 11: 103,510,686 (GRCm39) E427D unknown Het
Lrrk1 T C 7: 65,912,235 (GRCm39) Y1775C probably damaging Het
Mdga2 A G 12: 66,844,407 (GRCm39) V197A possibly damaging Het
Mfhas1 T A 8: 36,056,329 (GRCm39) L268Q probably damaging Het
Mlh1 A G 9: 111,084,726 (GRCm39) I216T probably damaging Het
Mrc2 G A 11: 105,234,528 (GRCm39) C1016Y probably benign Het
Mvp C A 7: 126,597,500 (GRCm39) V168F probably damaging Het
Mybphl A G 3: 108,282,494 (GRCm39) T176A probably benign Het
Myt1 T A 2: 181,437,532 (GRCm39) L81Q probably damaging Het
Ncbp3 T C 11: 72,966,503 (GRCm39) L453S probably benign Het
Or4c1 T A 2: 89,133,621 (GRCm39) E105V probably benign Het
Or4c114 T C 2: 88,905,412 (GRCm39) T8A possibly damaging Het
Or55b10 T A 7: 102,143,659 (GRCm39) I108F probably damaging Het
Or5b125-ps1 C A 19: 13,056,226 (GRCm39) noncoding transcript Het
Or5l14 A T 2: 87,793,053 (GRCm39) F61Y probably benign Het
Pak4 A T 7: 28,263,674 (GRCm39) M354K probably damaging Het
Pax3 T C 1: 78,173,383 (GRCm39) T2A probably benign Het
Pcdh17 A G 14: 84,770,960 (GRCm39) D1146G probably damaging Het
Pcyt1a T C 16: 32,289,042 (GRCm39) probably benign Het
Pfkp C T 13: 6,650,671 (GRCm39) G467D possibly damaging Het
Plin4 C A 17: 56,410,762 (GRCm39) G1090C probably damaging Het
Pth1r A G 9: 110,560,692 (GRCm39) V25A probably damaging Het
Ptk2b C T 14: 66,394,518 (GRCm39) G859S probably benign Het
Ptprf T A 4: 118,068,219 (GRCm39) E1772D probably benign Het
Sall2 T C 14: 52,551,935 (GRCm39) H420R probably damaging Het
Sbds G A 5: 130,279,816 (GRCm39) R63W probably damaging Het
Sccpdh A G 1: 179,495,975 (GRCm39) T19A possibly damaging Het
Scn8a A T 15: 100,913,572 (GRCm39) D988V probably damaging Het
Slamf6 C T 1: 171,761,680 (GRCm39) Q34* probably null Het
Slc22a6 T A 19: 8,601,016 (GRCm39) I403N probably damaging Het
Sox5 T C 6: 143,781,042 (GRCm39) Y574C probably damaging Het
Sptbn5 T A 2: 119,889,897 (GRCm39) probably benign Het
Srcap T A 7: 127,137,716 (GRCm39) V1022E probably damaging Het
Tbx3 G A 5: 119,815,635 (GRCm39) E292K possibly damaging Het
Tbx5 A T 5: 119,979,964 (GRCm39) H170L probably damaging Het
Tcf12 A T 9: 71,776,249 (GRCm39) probably benign Het
Themis G A 10: 28,658,647 (GRCm39) R558H probably damaging Het
Tiam1 T C 16: 89,640,170 (GRCm39) E849G possibly damaging Het
Vav3 A G 3: 109,470,534 (GRCm39) probably benign Het
Vmn2r90 T A 17: 17,953,956 (GRCm39) C707S possibly damaging Het
Vmn2r96 T G 17: 18,803,270 (GRCm39) N201K probably benign Het
Zfp148 C T 16: 33,288,505 (GRCm39) R207C probably damaging Het
Zfp648 G T 1: 154,080,152 (GRCm39) A104S probably benign Het
Other mutations in Esm1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
Predicted Primers PCR Primer
(F):5'- AGACATGAAGAGCCTCTTGC -3'
(R):5'- CCTGGTTGTTCAGAGGAAGG -3'

Sequencing Primer
(F):5'- TACCTCTGCACCTGGGCATG -3'
(R):5'- TTCAGAGGAAGGAACACGCACC -3'
Posted On 2015-10-21