Incidental Mutation 'IGL01532:Ldah'
ID 89819
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 # IGL01532
Quality Score
Status
Chromosome 12
Chromosomal Location 8258107-8335759 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 8270596 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151631 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000037383] [ENSMUST00000169104] [ENSMUST00000217999] [ENSMUST00000218086] [ENSMUST00000218305] [ENSMUST00000218883] [ENSMUST00000219043] [ENSMUST00000219058] [ENSMUST00000219357] [ENSMUST00000220274] [ENSMUST00000220345]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000037383
SMART Domains Protein: ENSMUSP00000042285
Gene: ENSMUSG00000037669

DomainStartEndE-ValueType
Pfam:DUF2305 43 304 5.2e-86 PFAM
Pfam:Abhydrolase_5 46 302 1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169104
SMART Domains Protein: ENSMUSP00000129424
Gene: ENSMUSG00000037669

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
Predicted Effect probably benign
Transcript: ENSMUST00000218305
Predicted Effect probably benign
Transcript: ENSMUST00000218883
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts17 C A 7: 66,558,349 (GRCm39) N264K probably damaging Het
Adgrl3 C T 5: 81,842,416 (GRCm39) T260I probably damaging Het
Ambra1 G T 2: 91,715,977 (GRCm39) K769N probably damaging Het
Arel1 A G 12: 84,980,936 (GRCm39) V357A possibly damaging Het
Atp11b T A 3: 35,903,651 (GRCm39) C76* probably null Het
AW112010 C A 19: 11,025,433 (GRCm39) noncoding transcript Het
Bfar A T 16: 13,505,251 (GRCm39) probably benign Het
Ccdc70 T G 8: 22,463,299 (GRCm39) L30V probably damaging Het
Cep20 A G 16: 14,122,375 (GRCm39) S130P probably benign Het
Chrm5 C T 2: 112,309,577 (GRCm39) R513Q probably benign Het
Crem G A 18: 3,276,732 (GRCm39) T7I probably benign Het
Cyp4f39 C T 17: 32,689,928 (GRCm39) probably benign Het
Dlg5 T C 14: 24,208,660 (GRCm39) T849A probably benign Het
Dock8 G T 19: 25,146,805 (GRCm39) G1428V probably damaging Het
Eomes T C 9: 118,311,317 (GRCm39) I380T probably damaging Het
Fam13a T C 6: 58,917,280 (GRCm39) D532G probably damaging Het
Gm10061 G T 16: 88,948,190 (GRCm39) *55L probably null Het
Gm27438 T G 2: 87,083,269 (GRCm39) probably benign Het
Gpalpp1 T C 14: 76,339,942 (GRCm39) K124E probably benign Het
Hgs T A 11: 120,368,335 (GRCm39) probably null Het
Hpn T A 7: 30,802,938 (GRCm39) M121L possibly damaging Het
Il1r1 T C 1: 40,334,088 (GRCm39) probably null Het
Jag2 A T 12: 112,877,983 (GRCm39) C583S probably damaging Het
Katnal2 T C 18: 77,099,696 (GRCm39) H146R probably benign Het
Lvrn T A 18: 47,033,551 (GRCm39) Y921N probably damaging Het
Muc5b A G 7: 141,423,743 (GRCm39) Y4572C possibly damaging Het
Myo16 A G 8: 10,450,551 (GRCm39) S518G probably benign Het
Ncf1 T C 5: 134,255,447 (GRCm39) N148S probably benign Het
Nes T G 3: 87,885,654 (GRCm39) D1260E possibly damaging Het
Nup210 C A 6: 91,062,981 (GRCm39) probably benign Het
Or52b4i T C 7: 102,191,863 (GRCm39) L240P probably damaging Het
Rnf31 C A 14: 55,840,080 (GRCm39) Q968K probably damaging Het
Ros1 A G 10: 51,967,034 (GRCm39) probably benign Het
Ryk T C 9: 102,774,465 (GRCm39) Y400H probably benign Het
Slc4a5 T A 6: 83,250,022 (GRCm39) probably null Het
Sptssb A G 3: 69,728,202 (GRCm39) probably benign Het
Sstr5 T C 17: 25,710,305 (GRCm39) D308G probably damaging Het
Taf2 A G 15: 54,912,882 (GRCm39) W493R possibly damaging Het
Vmn2r28 T A 7: 5,489,463 (GRCm39) I459L probably benign Het
Vti1b A C 12: 79,211,912 (GRCm39) L1W probably null Het
Wdr1 T C 5: 38,692,530 (GRCm39) Y125C probably damaging Het
Other mutations in Ldah
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01531:Ldah APN 12 8,277,337 (GRCm39) missense probably benign 0.04
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