Incidental Mutation 'R7759:Esd'
ID 597759
Institutional Source Beutler Lab
Gene Symbol Esd
Ensembl Gene ENSMUSG00000021996
Gene Name esterase D/formylglutathione hydrolase
Synonyms Es10, Esd, Es-10
MMRRC Submission 045815-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # R7759 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 74969737-74988205 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) T to A at 74983007 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 219 (C219*)
Ref Sequence ENSEMBL: ENSMUSP00000135394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022573] [ENSMUST00000175712] [ENSMUST00000175887] [ENSMUST00000176957] [ENSMUST00000177137] [ENSMUST00000177181] [ENSMUST00000177283]
AlphaFold Q9R0P3
Predicted Effect probably null
Transcript: ENSMUST00000022573
AA Change: C206*
SMART Domains Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: C206*

DomainStartEndE-ValueType
Pfam:Esterase 23 275 8.1e-74 PFAM
Pfam:Chlorophyllase2 29 184 2.7e-8 PFAM
Pfam:Esterase_phd 30 231 1e-7 PFAM
Pfam:Abhydrolase_5 48 261 4.6e-9 PFAM
Pfam:Peptidase_S9 102 282 2.2e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175712
AA Change: C133*
SMART Domains Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: C133*

DomainStartEndE-ValueType
Pfam:Esterase 23 131 4.5e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000175887
AA Change: C173*
SMART Domains Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: C173*

DomainStartEndE-ValueType
Pfam:Esterase 23 242 1.3e-57 PFAM
Pfam:Chlorophyllase2 29 186 2.6e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000176726
Predicted Effect probably null
Transcript: ENSMUST00000176957
AA Change: C219*
SMART Domains Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: C219*

DomainStartEndE-ValueType
Pfam:AXE1 26 198 1e-7 PFAM
Pfam:Esterase 36 288 6.6e-74 PFAM
Pfam:Abhydrolase_5 61 274 7.1e-9 PFAM
Pfam:Peptidase_S9 116 295 2.4e-7 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177137
AA Change: C206*
SMART Domains Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: C206*

DomainStartEndE-ValueType
Pfam:Esterase 23 259 1.4e-68 PFAM
Pfam:Chlorophyllase2 29 184 2.2e-8 PFAM
Pfam:Esterase_phd 30 231 7.9e-8 PFAM
Pfam:Abhydrolase_5 48 247 5.3e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177181
AA Change: C206*
SMART Domains Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: C206*

DomainStartEndE-ValueType
Pfam:Esterase 23 261 2e-68 PFAM
Pfam:Chlorophyllase2 29 184 2.3e-8 PFAM
Pfam:Esterase_phd 30 231 8.4e-8 PFAM
Pfam:Abhydrolase_5 48 248 5.6e-9 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000177283
AA Change: C206*
SMART Domains Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: C206*

DomainStartEndE-ValueType
Pfam:AXE1 16 185 1.1e-7 PFAM
Pfam:Esterase 23 247 1e-67 PFAM
Pfam:Chlorophyllase2 29 184 1.9e-8 PFAM
Pfam:Esterase_phd 30 231 2.5e-8 PFAM
Pfam:Abhydrolase_5 48 239 5.9e-9 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik G T 16: 4,682,514 (GRCm39) G215V probably benign Het
Adamts1 C A 16: 85,594,683 (GRCm39) G652C probably damaging Het
Adck1 G A 12: 88,368,887 (GRCm39) A122T possibly damaging Het
Akap1 A C 11: 88,736,659 (GRCm39) M34R probably damaging Het
Apc2 C T 10: 80,147,030 (GRCm39) R695C probably damaging Het
Apon T A 10: 128,090,384 (GRCm39) W21R probably benign Het
Arhgef16 T C 4: 154,371,432 (GRCm39) T254A probably benign Het
Arid5b T A 10: 67,933,632 (GRCm39) S757C probably damaging Het
B020004C17Rik A C 14: 57,254,242 (GRCm39) I122L possibly damaging Het
Bckdhb T G 9: 83,892,379 (GRCm39) V270G probably damaging Het
Cacna1d A G 14: 29,821,145 (GRCm39) Y1146H probably benign Het
Carmil2 A G 8: 106,423,668 (GRCm39) D1214G possibly damaging Het
Ccdc142 T C 6: 83,084,912 (GRCm39) V636A probably benign Het
Chd9 T C 8: 91,704,178 (GRCm39) probably null Het
Csmd3 A G 15: 47,561,569 (GRCm39) S1336P Het
Cubn A G 2: 13,352,961 (GRCm39) Y1926H probably damaging Het
Dock4 A T 12: 40,867,735 (GRCm39) D1437V probably damaging Het
Eme1 A T 11: 94,536,666 (GRCm39) Y504* probably null Het
Enah G A 1: 181,746,009 (GRCm39) A687V unknown Het
Endou A C 15: 97,611,747 (GRCm39) V339G probably damaging Het
Ephb6 G A 6: 41,591,539 (GRCm39) R232H probably benign Het
Ephx2 G A 14: 66,326,968 (GRCm39) A409V possibly damaging Het
Fscb A T 12: 64,520,866 (GRCm39) M200K probably benign Het
Gabra6 A T 11: 42,208,508 (GRCm39) V108D probably damaging Het
Gm11555 A G 11: 99,540,568 (GRCm39) V137A unknown Het
Gpld1 A G 13: 25,146,383 (GRCm39) D209G probably damaging Het
Ikzf1 T A 11: 11,719,256 (GRCm39) I408N probably damaging Het
Itgb4 A G 11: 115,894,536 (GRCm39) R1364G possibly damaging Het
Kif26b A C 1: 178,506,509 (GRCm39) K195T probably damaging Het
Mfsd12 T C 10: 81,199,427 (GRCm39) W440R probably benign Het
Mtrr C T 13: 68,718,146 (GRCm39) E373K probably damaging Het
Mug2 T A 6: 122,058,317 (GRCm39) V1293E probably damaging Het
Myof C A 19: 37,928,346 (GRCm39) A1068S probably benign Het
Ncam2 A G 16: 81,412,672 (GRCm39) D720G probably damaging Het
Nova2 G T 7: 18,692,176 (GRCm39) G435V Het
Oacyl T A 18: 65,843,631 (GRCm39) D109E probably damaging Het
Or2y1g A T 11: 49,171,463 (GRCm39) M163L probably benign Het
Or56a4 G A 7: 104,806,232 (GRCm39) S219F probably damaging Het
Pdcd11 G A 19: 47,101,637 (GRCm39) V941M possibly damaging Het
Pdzd8 C A 19: 59,288,358 (GRCm39) R1014L probably damaging Het
Ppm1h T G 10: 122,740,018 (GRCm39) D364E probably benign Het
Rigi C A 4: 40,225,104 (GRCm39) A298S probably damaging Het
Rp1 T C 1: 4,415,107 (GRCm39) N2002D probably benign Het
Sall1 C T 8: 89,768,979 (GRCm39) probably null Het
Scn10a C T 9: 119,477,198 (GRCm39) W728* probably null Het
Setdb2 G T 14: 59,656,813 (GRCm39) T168K probably damaging Het
Sgms1 T C 19: 32,137,276 (GRCm39) I97V probably benign Het
Slc8a3 A T 12: 81,361,325 (GRCm39) M498K probably benign Het
Smpd4 A T 16: 17,456,497 (GRCm39) E362D probably damaging Het
Ssc5d A T 7: 4,940,529 (GRCm39) K881* probably null Het
Strn4 A G 7: 16,564,309 (GRCm39) E313G probably damaging Het
Tas2r113 A T 6: 132,870,890 (GRCm39) N306I possibly damaging Het
Tdrd6 G T 17: 43,935,730 (GRCm39) R1773S probably benign Het
Thbs2 T C 17: 14,897,321 (GRCm39) E729G probably damaging Het
Tnfrsf23 G A 7: 143,224,572 (GRCm39) T135I probably damaging Het
Tollip A G 7: 141,438,276 (GRCm39) M218T probably benign Het
Tyk2 A T 9: 21,031,554 (GRCm39) probably null Het
Ubr2 G A 17: 47,296,974 (GRCm39) R269C probably damaging Het
Uggt1 A T 1: 36,185,806 (GRCm39) M1459K possibly damaging Het
Upf1 A G 8: 70,786,730 (GRCm39) V929A probably benign Het
Usp48 T C 4: 137,321,763 (GRCm39) S24P probably benign Het
Vmn1r214 G A 13: 23,218,631 (GRCm39) E42K not run Het
Vmn1r83 G T 7: 12,055,360 (GRCm39) D232E probably benign Het
Vmn2r25 C T 6: 123,800,339 (GRCm39) V668I probably damaging Het
Vmn2r6 A G 3: 64,463,991 (GRCm39) I281T probably damaging Het
Ywhag A T 5: 135,940,043 (GRCm39) Y184N probably damaging Het
Zdbf2 A C 1: 63,347,535 (GRCm39) E1971D possibly damaging Het
Zfp568 G A 7: 29,722,839 (GRCm39) A595T possibly damaging Het
Zfy2 T C Y: 2,117,083 (GRCm39) D248G probably benign Het
Other mutations in Esd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Esd APN 14 74,973,467 (GRCm39) missense probably damaging 1.00
IGL00534:Esd APN 14 74,975,901 (GRCm39) missense probably damaging 0.99
IGL00904:Esd APN 14 74,987,128 (GRCm39) makesense probably null
IGL01645:Esd APN 14 74,987,159 (GRCm39) missense probably benign 0.00
IGL03117:Esd APN 14 74,978,686 (GRCm39) missense probably damaging 1.00
R0766:Esd UTSW 14 74,979,561 (GRCm39) missense probably damaging 1.00
R0939:Esd UTSW 14 74,973,467 (GRCm39) missense probably damaging 1.00
R1862:Esd UTSW 14 74,979,514 (GRCm39) missense probably damaging 1.00
R1892:Esd UTSW 14 74,987,113 (GRCm39) missense probably damaging 0.96
R3922:Esd UTSW 14 74,980,667 (GRCm39) missense probably benign 0.00
R4580:Esd UTSW 14 74,979,517 (GRCm39) missense possibly damaging 0.55
R4830:Esd UTSW 14 74,978,600 (GRCm39) missense probably damaging 1.00
R4969:Esd UTSW 14 74,982,153 (GRCm39) missense possibly damaging 0.76
R5211:Esd UTSW 14 74,978,632 (GRCm39) missense probably damaging 1.00
R5335:Esd UTSW 14 74,979,553 (GRCm39) missense probably damaging 0.99
R5810:Esd UTSW 14 74,983,051 (GRCm39) missense probably damaging 1.00
R7024:Esd UTSW 14 74,982,102 (GRCm39) missense probably damaging 1.00
R8673:Esd UTSW 14 74,969,952 (GRCm39) missense probably benign 0.15
R9001:Esd UTSW 14 74,983,123 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- ACATTCTCTGCTGGTGATTGC -3'
(R):5'- GCTAAGGTTTCATAGTACTTGCC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- CTCTTGTAGTCTAAACACAACAGGG -3'
Posted On 2019-11-26