Incidental Mutation 'IGL01531:Ldah'
ID89775
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 #IGL01531
Quality Score
Status
Chromosome12
Chromosomal Location8208107-8285759 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 8227337 bp
ZygosityHeterozygous
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] [ENSMUST00000219043] [ENSMUST00000219058] [ENSMUST00000219357] [ENSMUST00000220274] [ENSMUST00000220345]
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: ENSMUST00000219043
AA Change: D91G

PolyPhen 2 Score 0.042 (Sensitivity: 0.94; Specificity: 0.83)
Predicted Effect probably benign
Transcript: ENSMUST00000219058
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
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: 119,466,958 probably null Het
Adcy1 T C 11: 7,169,414 V1019A possibly damaging Het
Blm A G 7: 80,474,071 Y1004H probably damaging Het
Btbd11 T C 10: 85,629,205 probably benign Het
Cachd1 A C 4: 100,953,034 I278L probably benign Het
Ddx18 T A 1: 121,564,586 T131S probably benign Het
Dgkd T C 1: 87,880,411 F67S probably damaging Het
Dlgap1 A G 17: 70,516,379 T120A probably damaging Het
Dnaja3 T G 16: 4,694,404 V224G probably damaging Het
Dntt A T 19: 41,053,238 R454* probably null Het
Dync2h1 T A 9: 7,071,111 T3083S probably benign Het
Eea1 C A 10: 96,031,677 T1045K probably damaging Het
Gpnmb T A 6: 49,047,458 probably benign Het
Hirip3 A G 7: 126,863,376 E108G possibly damaging Het
Il33 C A 19: 29,951,981 Q35K possibly damaging Het
Il6ra G A 3: 89,886,043 L267F probably damaging Het
Impact C T 18: 12,976,019 S69F probably benign Het
Klk9 G A 7: 43,792,251 G39D probably damaging Het
Lrp4 T C 2: 91,511,553 L1837P probably damaging Het
Mov10l1 T A 15: 89,054,352 H1204Q probably damaging Het
Nlrp4c A G 7: 6,060,656 E21G probably damaging Het
Olfr361 T C 2: 37,085,395 M118V possibly damaging Het
Olfr629 T A 7: 103,741,114 N42I probably damaging Het
Osbpl1a T G 18: 12,933,581 K40N probably damaging Het
Ptprd T C 4: 76,085,520 T1010A probably damaging Het
Rp1 A G 1: 4,348,945 V648A probably benign Het
Scn9a T C 2: 66,537,378 K654E probably benign Het
Sema3d A G 5: 12,541,080 I309V probably benign Het
Slc6a2 T C 8: 92,995,682 L519P probably damaging Het
Stard9 A G 2: 120,673,604 I211V possibly damaging Het
Stau2 T C 1: 16,345,698 *480W probably null Het
Svopl T C 6: 38,026,941 probably benign Het
Virma A G 4: 11,528,753 E1330G probably damaging Het
Zan G A 5: 137,424,612 T2713I unknown Het
Other mutations in Ldah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01532:Ldah APN 12 8220596 splice site probably benign
IGL02554:Ldah APN 12 8283935 nonsense probably null
IGL02866:Ldah APN 12 8238602 missense probably benign 0.01
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 On2013-12-03