Incidental Mutation 'IGL01645:Esd'
ID 102625
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Esd
Ensembl Gene ENSMUSG00000021996
Gene Name esterase D/formylglutathione hydrolase
Synonyms Es10, Esd, Es-10
Accession Numbers
Essential gene? Probably non essential (E-score: 0.212) question?
Stock # IGL01645
Quality Score
Status
Chromosome 14
Chromosomal Location 74969737-74988205 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 74987159 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000177181] [ENSMUST00000177137] [ENSMUST00000177283]
AlphaFold Q9R0P3
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: 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: 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: 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
Abcc8 C T 7: 45,764,477 (GRCm39) C1156Y possibly damaging Het
Armh4 T C 14: 50,011,011 (GRCm39) E232G probably damaging Het
Atp8b1 G A 18: 64,679,184 (GRCm39) H766Y probably benign Het
Cacna2d1 C A 5: 16,217,389 (GRCm39) probably null Het
Card11 T A 5: 140,863,778 (GRCm39) T987S probably benign Het
Dennd2b T A 7: 109,126,841 (GRCm39) K540* probably null Het
Dmxl2 A T 9: 54,286,017 (GRCm39) Y2723N possibly damaging Het
Dnah11 T A 12: 118,150,733 (GRCm39) I342F possibly damaging Het
Dnajc10 A G 2: 80,170,871 (GRCm39) H454R possibly damaging Het
Dpy19l3 T C 7: 35,394,763 (GRCm39) T592A probably benign Het
Eea1 T A 10: 95,825,451 (GRCm39) S49T probably damaging Het
Fmo3 A G 1: 162,791,575 (GRCm39) V234A possibly damaging Het
Folh1 A G 7: 86,391,435 (GRCm39) F420L probably damaging Het
Gabra1 T C 11: 42,026,389 (GRCm39) N301S probably damaging Het
Gm5422 A T 10: 31,126,069 (GRCm39) noncoding transcript Het
Gorab A T 1: 163,214,000 (GRCm39) L310Q possibly damaging Het
Gsdme A G 6: 50,228,316 (GRCm39) Y51H probably damaging Het
Hrob T C 11: 102,146,012 (GRCm39) L96P probably damaging Het
Itpr1 T C 6: 108,450,560 (GRCm39) I1964T possibly damaging Het
Lmbr1 A G 5: 29,440,053 (GRCm39) L410P probably damaging Het
Lrrc37a T C 11: 103,395,090 (GRCm39) R112G probably benign Het
Mrgpra6 T C 7: 46,835,681 (GRCm39) T247A probably benign Het
Mroh4 A G 15: 74,483,207 (GRCm39) probably benign Het
Mycbpap T C 11: 94,394,293 (GRCm39) probably null Het
Myoz2 T A 3: 122,827,881 (GRCm39) K12N probably damaging Het
Odad2 T C 18: 7,268,491 (GRCm39) S343G probably benign Het
Or1d2 T C 11: 74,256,359 (GRCm39) I288T possibly damaging Het
P3h1 T G 4: 119,093,980 (GRCm39) F212V probably damaging Het
Pcnx2 T C 8: 126,614,656 (GRCm39) D265G probably damaging Het
Pkd1l3 C T 8: 110,361,934 (GRCm39) T992I possibly damaging Het
Prss58 T C 6: 40,874,244 (GRCm39) D144G probably damaging Het
Pth2 T A 7: 44,830,764 (GRCm39) L29Q possibly damaging Het
Rab1b A C 19: 5,154,962 (GRCm39) probably benign Het
Rasa2 A T 9: 96,464,834 (GRCm39) C190* probably null Het
Scn9a T C 2: 66,317,986 (GRCm39) K1501E possibly damaging Het
Selenoi A G 5: 30,462,821 (GRCm39) probably benign Het
Slc11a2 T C 15: 100,286,999 (GRCm39) N558S probably benign Het
Sox10 T C 15: 79,040,539 (GRCm39) I173V probably benign Het
Sra1 A C 18: 36,804,526 (GRCm39) F476C probably damaging Het
Tmem119 T A 5: 113,933,409 (GRCm39) K131* probably null Het
Trim12c T A 7: 103,994,261 (GRCm39) K198* probably null Het
Ttn A G 2: 76,681,904 (GRCm39) probably benign Het
Unc119b C T 5: 115,265,371 (GRCm39) V154I probably benign Het
Usp47 T A 7: 111,654,069 (GRCm39) S108R probably damaging Het
Vmn1r15 T A 6: 57,235,547 (GRCm39) C138* probably null Het
Vmn1r191 T C 13: 22,363,614 (GRCm39) I47V probably benign Het
Wnt3 C T 11: 103,703,204 (GRCm39) A229V 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
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
R7759:Esd UTSW 14 74,983,007 (GRCm39) nonsense probably null
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
Posted On 2014-01-21