Incidental Mutation 'IGL01531:Ldah'
ID 89775
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 # IGL01531
Quality Score
Status
Chromosome 12
Chromosomal Location 8258107-8335759 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 8277337 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 91 (D91G)
Ref Sequence ENSEMBL: ENSMUSP00000151362 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037383] [ENSMUST00000169104] [ENSMUST00000217999] [ENSMUST00000218086] [ENSMUST00000218305] [ENSMUST00000218883] [ENSMUST00000219357] [ENSMUST00000220274] [ENSMUST00000220345] [ENSMUST00000219043] [ENSMUST00000219058]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037383
AA Change: D91G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
SMART Domains Protein: ENSMUSP00000042285
Gene: ENSMUSG00000037669
AA Change: D91G

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: D91G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000129424
Gene: ENSMUSG00000037669
AA Change: D91G

DomainStartEndE-ValueType
Pfam:DUF2305 43 236 2.2e-59 PFAM
Pfam:Abhydrolase_6 47 209 2.6e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000217763
Predicted Effect probably benign
Transcript: ENSMUST00000217999
Predicted Effect probably benign
Transcript: ENSMUST00000218086
AA Change: D91G

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218305
Predicted Effect probably benign
Transcript: ENSMUST00000218883
AA Change: D21G

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
Predicted Effect probably benign
Transcript: ENSMUST00000219357
AA Change: D91G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000220274
AA Change: D91G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000220345
Predicted Effect probably benign
Transcript: ENSMUST00000219043
AA Change: D91G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000219058
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4833420G17Rik T A 13: 119,603,494 (GRCm39) probably null Het
Abtb3 T C 10: 85,465,069 (GRCm39) probably benign Het
Adcy1 T C 11: 7,119,414 (GRCm39) V1019A possibly damaging Het
Blm A G 7: 80,123,819 (GRCm39) Y1004H probably damaging Het
Cachd1 A C 4: 100,810,231 (GRCm39) I278L probably benign Het
Ddx18 T A 1: 121,492,315 (GRCm39) T131S probably benign Het
Dgkd T C 1: 87,808,133 (GRCm39) F67S probably damaging Het
Dlgap1 A G 17: 70,823,374 (GRCm39) T120A probably damaging Het
Dnaja3 T G 16: 4,512,268 (GRCm39) V224G probably damaging Het
Dntt A T 19: 41,041,677 (GRCm39) R454* probably null Het
Dync2h1 T A 9: 7,071,111 (GRCm39) T3083S probably benign Het
Eea1 C A 10: 95,867,539 (GRCm39) T1045K probably damaging Het
Gpnmb T A 6: 49,024,392 (GRCm39) probably benign Het
Hirip3 A G 7: 126,462,548 (GRCm39) E108G possibly damaging Het
Il33 C A 19: 29,929,381 (GRCm39) Q35K possibly damaging Het
Il6ra G A 3: 89,793,350 (GRCm39) L267F probably damaging Het
Impact C T 18: 13,109,076 (GRCm39) S69F probably benign Het
Klk1b9 G A 7: 43,441,675 (GRCm39) G39D probably damaging Het
Lrp4 T C 2: 91,341,898 (GRCm39) L1837P probably damaging Het
Mov10l1 T A 15: 88,938,555 (GRCm39) H1204Q probably damaging Het
Nlrp4c A G 7: 6,063,655 (GRCm39) E21G probably damaging Het
Or12k8 T C 2: 36,975,407 (GRCm39) M118V possibly damaging Het
Or52ae9 T A 7: 103,390,321 (GRCm39) N42I probably damaging Het
Osbpl1a T G 18: 13,066,638 (GRCm39) K40N probably damaging Het
Ptprd T C 4: 76,003,757 (GRCm39) T1010A probably damaging Het
Rp1 A G 1: 4,419,168 (GRCm39) V648A probably benign Het
Scn9a T C 2: 66,367,722 (GRCm39) K654E probably benign Het
Sema3d A G 5: 12,591,047 (GRCm39) I309V probably benign Het
Slc6a2 T C 8: 93,722,310 (GRCm39) L519P probably damaging Het
Stard9 A G 2: 120,504,085 (GRCm39) I211V possibly damaging Het
Stau2 T C 1: 16,415,922 (GRCm39) *480W probably null Het
Svopl T C 6: 38,003,876 (GRCm39) probably benign Het
Virma A G 4: 11,528,753 (GRCm39) E1330G probably damaging Het
Zan G A 5: 137,422,874 (GRCm39) T2713I unknown Het
Other mutations in Ldah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Ldah APN 12 8,270,596 (GRCm39) splice site probably benign
IGL02554:Ldah APN 12 8,333,935 (GRCm39) nonsense probably null
IGL02866:Ldah APN 12 8,288,602 (GRCm39) missense probably benign 0.01
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 2013-12-03