Incidental Mutation 'IGL00571:Liph'
ID13587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Liph
Ensembl Gene ENSMUSG00000044626
Gene Namelipase, member H
SynonymsD16Wsu119e, mPA-PLA1, PLA1B, C130037N08Rik, LPDLR, Lpdlr
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00571
Quality Score
Status
Chromosome16
Chromosomal Location21953817-21995663 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 21968140 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 242 (F242S)
Ref Sequence ENSEMBL: ENSMUSP00000156378 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000060673] [ENSMUST00000074230] [ENSMUST00000231682] [ENSMUST00000231766]
Predicted Effect probably damaging
Transcript: ENSMUST00000060673
AA Change: F244S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000062310
Gene: ENSMUSG00000044626
AA Change: F244S

DomainStartEndE-ValueType
Pfam:Lipase 11 326 6.8e-82 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000074230
AA Change: F214S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000073853
Gene: ENSMUSG00000044626
AA Change: F214S

DomainStartEndE-ValueType
Pfam:Lipase 15 214 1.5e-45 PFAM
Pfam:Abhydrolase_6 73 296 2.3e-6 PFAM
Pfam:Lipase 209 296 1.7e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000231682
Predicted Effect probably damaging
Transcript: ENSMUST00000231766
AA Change: F242S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232673
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound member of the mammalian triglyceride lipase family. It catalyzes the production of 2-acyl lysophosphatidic acid (LPA), which is a lipid mediator with diverse biological properties that include platelet aggregation, smooth muscle contraction, and stimulation of cell proliferation and motility. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit wavy vibrissae and wavy and matted coats associated with impaired inner rooth sheath formation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
7420426K07Rik A C 9: 98,903,686 T135P possibly damaging Het
Abr T G 11: 76,468,740 S180R probably benign Het
Atrn G T 2: 130,995,048 R1144L probably damaging Het
Dsc1 G T 18: 20,110,138 S86Y probably damaging Het
Ets2 C A 16: 95,712,141 N120K probably benign Het
Fas A T 19: 34,318,618 T154S probably damaging Het
Fbxo41 T C 6: 85,478,102 probably null Het
Fzd8 A T 18: 9,213,068 Y50F unknown Het
Hmcn1 C T 1: 150,638,999 V3541I probably benign Het
Il6st G A 13: 112,487,860 V215M probably damaging Het
Kif13b G A 14: 64,746,417 V581M probably damaging Het
Nacc2 T C 2: 26,089,690 T245A probably benign Het
Nlrp1b C T 11: 71,163,973 D889N probably null Het
Parp4 T A 14: 56,647,353 S1296R unknown Het
Sec24a G A 11: 51,736,504 Q194* probably null Het
Slco6c1 T C 1: 97,087,951 N372D probably benign Het
Sprr2a3 T A 3: 92,288,767 Y60* probably null Het
Tdrd6 T A 17: 43,628,160 I666F probably damaging Het
Tlr1 T C 5: 64,926,434 I267V probably benign Het
Tmtc2 A G 10: 105,321,446 I633T possibly damaging Het
Ttc33 A G 15: 5,217,328 D205G probably damaging Het
Uspl1 A G 5: 149,188,360 K26E probably damaging Het
Zfp639 A G 3: 32,519,919 D231G probably damaging Het
Other mutations in Liph
AlleleSourceChrCoordTypePredicted EffectPPH Score
babyback UTSW 16 21983957 missense probably damaging 0.97
PIT4131001:Liph UTSW 16 21995369 start codon destroyed probably null 0.59
R0004:Liph UTSW 16 21984194 nonsense probably null
R0045:Liph UTSW 16 21968053 missense probably damaging 1.00
R0045:Liph UTSW 16 21968053 missense probably damaging 1.00
R0348:Liph UTSW 16 21967980 splice site probably null
R0689:Liph UTSW 16 21968068 missense probably damaging 1.00
R0715:Liph UTSW 16 21995350 missense probably benign 0.05
R1104:Liph UTSW 16 21984148 missense possibly damaging 0.82
R1779:Liph UTSW 16 21968050 missense probably benign 0.01
R2323:Liph UTSW 16 21984004 missense probably damaging 0.99
R3913:Liph UTSW 16 21962259 splice site probably benign
R4402:Liph UTSW 16 21976250 missense probably damaging 1.00
R4454:Liph UTSW 16 21984268 missense probably benign 0.11
R4672:Liph UTSW 16 21984056 missense probably benign 0.14
R4681:Liph UTSW 16 21984027 missense probably benign 0.02
R5111:Liph UTSW 16 21984070 missense probably damaging 1.00
R5135:Liph UTSW 16 21956165 nonsense probably null
R5235:Liph UTSW 16 21984035 missense probably damaging 1.00
R5642:Liph UTSW 16 21965995 missense possibly damaging 0.61
R5810:Liph UTSW 16 21968110 missense probably damaging 1.00
R6188:Liph UTSW 16 21984268 missense probably benign 0.11
R6557:Liph UTSW 16 21983920 missense possibly damaging 0.60
R6734:Liph UTSW 16 21983957 missense probably damaging 0.97
R7011:Liph UTSW 16 21984097 missense probably damaging 0.98
R7038:Liph UTSW 16 21976259 missense probably damaging 1.00
R7178:Liph UTSW 16 21976328 missense probably damaging 1.00
R7185:Liph UTSW 16 21995339 missense probably benign 0.00
R7198:Liph UTSW 16 21966022 missense probably damaging 1.00
R7775:Liph UTSW 16 21958914 missense probably damaging 1.00
R7832:Liph UTSW 16 21962236 missense probably benign 0.01
R7993:Liph UTSW 16 21958812 missense probably benign 0.03
R8264:Liph UTSW 16 21983971 missense possibly damaging 0.94
Posted On2012-12-06