Incidental Mutation 'IGL01645:Esd'
ID102625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esd
Ensembl Gene ENSMUSG00000021996
Gene Nameesterase D/formylglutathione hydrolase
SynonymsEs10, Es-10, Esd
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.177) question?
Stock #IGL01645
Quality Score
Status
Chromosome14
Chromosomal Location74732297-74750765 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 74749719 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Lysine at position 294 (N294K)
Ref Sequence ENSEMBL: ENSMUSP00000135394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022573] [ENSMUST00000088970] [ENSMUST00000175712] [ENSMUST00000175887] [ENSMUST00000176957] [ENSMUST00000177137] [ENSMUST00000177181] [ENSMUST00000177283]
Predicted Effect probably benign
Transcript: ENSMUST00000022573
AA Change: N281K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: N281K

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 benign
Transcript: ENSMUST00000088970
SMART Domains Protein: ENSMUSP00000086363
Gene: ENSMUSG00000068015

DomainStartEndE-ValueType
low complexity region 25 44 N/A INTRINSIC
LRR 109 131 1.86e1 SMART
LRR_TYP 132 155 3.39e-3 SMART
LRR 177 199 1.41e1 SMART
LRR 200 223 4.34e-1 SMART
LRR 245 268 1.66e1 SMART
low complexity region 306 322 N/A INTRINSIC
CH 591 698 1.71e-18 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000175712
SMART Domains Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996

DomainStartEndE-ValueType
Pfam:Esterase 23 131 4.5e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175887
AA Change: N248K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: N248K

DomainStartEndE-ValueType
Pfam:Esterase 23 242 1.3e-57 PFAM
Pfam:Chlorophyllase2 29 186 2.6e-8 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000176726
AA Change: N103K
Predicted Effect probably benign
Transcript: ENSMUST00000176957
AA Change: N294K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: N294K

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 benign
Transcript: ENSMUST00000177137
SMART Domains Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996

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 benign
Transcript: ENSMUST00000177181
SMART Domains Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996

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 benign
Transcript: ENSMUST00000177283
SMART Domains Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Usp47 T A 7: 112,054,862 S108R probably damaging Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in Esd
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00324:Esd APN 14 74736027 missense probably damaging 1.00
IGL00534:Esd APN 14 74738461 missense probably damaging 0.99
IGL00904:Esd APN 14 74749688 makesense probably null
IGL03117:Esd APN 14 74741246 missense probably damaging 1.00
R0766:Esd UTSW 14 74742121 missense probably damaging 1.00
R0939:Esd UTSW 14 74736027 missense probably damaging 1.00
R1862:Esd UTSW 14 74742074 missense probably damaging 1.00
R1892:Esd UTSW 14 74749673 missense probably damaging 0.96
R3922:Esd UTSW 14 74743227 missense probably benign 0.00
R4580:Esd UTSW 14 74742077 missense possibly damaging 0.55
R4830:Esd UTSW 14 74741160 missense probably damaging 1.00
R4969:Esd UTSW 14 74744713 missense possibly damaging 0.76
R5211:Esd UTSW 14 74741192 missense probably damaging 1.00
R5335:Esd UTSW 14 74742113 missense probably damaging 0.99
R5810:Esd UTSW 14 74745611 missense probably damaging 1.00
R7024:Esd UTSW 14 74744662 missense probably damaging 1.00
Posted On2014-01-21