Incidental Mutation 'IGL02866:Ldah'
ID 362344
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ldah
Ensembl Gene ENSMUSG00000037669
Gene Name lipid droplet associated hydrolase
Synonyms 1110057K04Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02866
Quality Score
Status
Chromosome 12
Chromosomal Location 8258107-8335759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 8288602 bp (GRCm39)
Zygosity Heterozygous
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] [ENSMUST00000220345] [ENSMUST00000220274]
AlphaFold no structure available at present
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: ENSMUST00000220345
Predicted Effect probably benign
Transcript: ENSMUST00000220274
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: 59,181,914 (GRCm39) M1118L possibly damaging Het
Ckmt2 A T 13: 92,006,400 (GRCm39) L315* probably null Het
Dusp28 T A 1: 92,835,378 (GRCm39) I154N probably benign Het
Ect2l A T 10: 18,035,565 (GRCm39) I420N probably damaging Het
Erap1 C A 13: 74,816,118 (GRCm39) N82K probably damaging Het
Gsdma3 A G 11: 98,520,585 (GRCm39) D72G possibly damaging Het
Hectd1 T A 12: 51,837,396 (GRCm39) S720C probably damaging Het
Jakmip2 T G 18: 43,685,266 (GRCm39) E674A probably benign Het
Kcnt2 T C 1: 140,352,986 (GRCm39) S232P probably damaging Het
Kmo T C 1: 175,481,154 (GRCm39) S291P probably damaging Het
Kpnb1 A G 11: 97,068,112 (GRCm39) V286A probably damaging Het
Mrgprb5 T A 7: 47,817,914 (GRCm39) I274F probably damaging Het
Mycbp2 A G 14: 103,367,428 (GRCm39) I988T probably damaging Het
Myh3 A G 11: 66,979,849 (GRCm39) E596G probably benign Het
Ndufs1 T C 1: 63,186,300 (GRCm39) I52V probably benign Het
Nhsl1 G T 10: 18,403,355 (GRCm39) D1363Y probably damaging Het
Or14c41 T A 7: 86,234,901 (GRCm39) C139* probably null Het
Or51f1e C A 7: 102,747,590 (GRCm39) T214K probably damaging Het
Or5b98 A G 19: 12,931,719 (GRCm39) I255M possibly damaging Het
Or6c66 A C 10: 129,461,575 (GRCm39) Y118* probably null Het
Pcdhb19 T C 18: 37,632,163 (GRCm39) S653P possibly damaging Het
Plcb3 A G 19: 6,935,044 (GRCm39) L869P probably damaging Het
Prkdc T A 16: 15,649,191 (GRCm39) F3722I probably damaging Het
Ptprd T C 4: 75,968,674 (GRCm39) K206R probably damaging Het
Pwwp3b T C X: 138,135,753 (GRCm39) V97A probably benign Het
Robo3 C A 9: 37,333,602 (GRCm39) R703L possibly damaging Het
Tob1 A T 11: 94,104,883 (GRCm39) M140L possibly damaging Het
Ubc A T 5: 125,464,486 (GRCm39) D280E probably benign Het
Wasf3 C A 5: 146,405,131 (GRCm39) Q364K probably benign Het
Other mutations in Ldah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Ldah APN 12 8,277,337 (GRCm39) missense probably benign 0.04
IGL01532:Ldah APN 12 8,270,596 (GRCm39) splice site probably benign
IGL02554:Ldah APN 12 8,333,935 (GRCm39) nonsense probably null
R0057:Ldah UTSW 12 8,288,432 (GRCm39) intron probably benign
R1334:Ldah UTSW 12 8,334,089 (GRCm39) splice site probably null
R4976:Ldah UTSW 12 8,277,237 (GRCm39) missense probably benign 0.03
R5119:Ldah UTSW 12 8,277,237 (GRCm39) missense probably benign 0.03
R5866:Ldah UTSW 12 8,270,614 (GRCm39) missense possibly damaging 0.74
R6254:Ldah UTSW 12 8,325,912 (GRCm39) unclassified probably benign
R6271:Ldah UTSW 12 8,318,599 (GRCm39) critical splice donor site probably null
R8114:Ldah UTSW 12 8,334,039 (GRCm39) missense probably damaging 1.00
R8460:Ldah UTSW 12 8,318,548 (GRCm39) missense probably benign 0.03
R9788:Ldah UTSW 12 8,333,946 (GRCm39) missense possibly damaging 0.94
R9794:Ldah UTSW 12 8,318,430 (GRCm39) missense possibly damaging 0.50
Posted On 2015-12-18