Incidental Mutation 'IGL02866:Ldah'
ID362344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldah
Ensembl Gene ENSMUSG00000037669
Gene Namelipid droplet associated hydrolase
Synonyms1110057K04Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02866
Quality Score
Status
Chromosome12
Chromosomal Location8208107-8285759 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 8238602 bp
ZygosityHeterozygous
Amino Acid Change Valine to Aspartic acid at position 83 (V83D)
Ref Sequence ENSEMBL: ENSMUSP00000151802 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037383] [ENSMUST00000169104] [ENSMUST00000217999] [ENSMUST00000218086] [ENSMUST00000218305] [ENSMUST00000218883] [ENSMUST00000219043] [ENSMUST00000219058] [ENSMUST00000219357] [ENSMUST00000220274] [ENSMUST00000220345]
Predicted Effect probably benign
Transcript: ENSMUST00000037383
AA Change: V153D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000042285
Gene: ENSMUSG00000037669
AA Change: V153D

DomainStartEndE-ValueType
Pfam:DUF2305 43 304 5.2e-86 PFAM
Pfam:Abhydrolase_5 46 302 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169104
AA Change: V153D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000129424
Gene: ENSMUSG00000037669
AA Change: V153D

DomainStartEndE-ValueType
Pfam:DUF2305 43 236 2.2e-59 PFAM
Pfam:Abhydrolase_6 47 209 2.6e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000217999
AA Change: V105D

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
Predicted Effect probably benign
Transcript: ENSMUST00000218086
AA Change: V153D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
Predicted Effect probably benign
Transcript: ENSMUST00000218305
Predicted Effect probably benign
Transcript: ENSMUST00000218883
AA Change: V83D

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
Predicted Effect probably benign
Transcript: ENSMUST00000219043
Predicted Effect probably benign
Transcript: ENSMUST00000219058
Predicted Effect probably benign
Transcript: ENSMUST00000219357
Predicted Effect probably benign
Transcript: ENSMUST00000220274
Predicted Effect probably benign
Transcript: ENSMUST00000220345
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele are viable and overtly normal with no major alterations in energy balance, glucose homeostasis, cholesterol ester or triacylglycerol metabolism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 A T 18: 59,048,842 M1118L possibly damaging Het
Ckmt2 A T 13: 91,858,281 L315* probably null Het
Dusp28 T A 1: 92,907,656 I154N probably benign Het
Ect2l A T 10: 18,159,817 I420N probably damaging Het
Erap1 C A 13: 74,667,999 N82K probably damaging Het
Gsdma3 A G 11: 98,629,759 D72G possibly damaging Het
Hectd1 T A 12: 51,790,613 S720C probably damaging Het
Jakmip2 T G 18: 43,552,201 E674A probably benign Het
Kcnt2 T C 1: 140,425,248 S232P probably damaging Het
Kmo T C 1: 175,653,588 S291P probably damaging Het
Kpnb1 A G 11: 97,177,286 V286A probably damaging Het
Mrgprb5 T A 7: 48,168,166 I274F probably damaging Het
Mum1l1 T C X: 139,235,004 V97A probably benign Het
Mycbp2 A G 14: 103,129,992 I988T probably damaging Het
Myh3 A G 11: 67,089,023 E596G probably benign Het
Ndufs1 T C 1: 63,147,141 I52V probably benign Het
Nhsl1 G T 10: 18,527,607 D1363Y probably damaging Het
Olfr1450 A G 19: 12,954,355 I255M possibly damaging Het
Olfr295 T A 7: 86,585,693 C139* probably null Het
Olfr585 C A 7: 103,098,383 T214K probably damaging Het
Olfr798 A C 10: 129,625,706 Y118* probably null Het
Pcdhb19 T C 18: 37,499,110 S653P possibly damaging Het
Plcb3 A G 19: 6,957,676 L869P probably damaging Het
Prkdc T A 16: 15,831,327 F3722I probably damaging Het
Ptprd T C 4: 76,050,437 K206R probably damaging Het
Robo3 C A 9: 37,422,306 R703L possibly damaging Het
Tob1 A T 11: 94,214,057 M140L possibly damaging Het
Ubc A T 5: 125,387,422 D280E probably benign Het
Wasf3 C A 5: 146,468,321 Q364K probably benign Het
Other mutations in Ldah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Ldah APN 12 8227337 missense probably benign 0.04
IGL01532:Ldah APN 12 8220596 splice site probably benign
IGL02554:Ldah APN 12 8283935 nonsense probably null
R0057:Ldah UTSW 12 8238432 intron probably benign
R1334:Ldah UTSW 12 8284089 unclassified probably null
R4976:Ldah UTSW 12 8227237 missense probably benign 0.03
R5119:Ldah UTSW 12 8227237 missense probably benign 0.03
R5866:Ldah UTSW 12 8220614 missense possibly damaging 0.74
R6254:Ldah UTSW 12 8275912 unclassified probably benign
R6271:Ldah UTSW 12 8268599 critical splice donor site probably null
R8114:Ldah UTSW 12 8284039 missense probably damaging 1.00
Posted On2015-12-18