Incidental Mutation 'IGL01107:Lpcat1'
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ID52572
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpcat1
Ensembl Gene ENSMUSG00000021608
Gene Namelysophosphatidylcholine acyltransferase 1
Synonyms2900035H07Rik, Aytl2, rd11, LPCAT
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.191) question?
Stock #IGL01107
Quality Score
Status
Chromosome13
Chromosomal Location73467197-73516422 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 73494828 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 126 (F126I)
Ref Sequence ENSEMBL: ENSMUSP00000152190 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022099] [ENSMUST00000123766] [ENSMUST00000147566] [ENSMUST00000223060]
Predicted Effect probably damaging
Transcript: ENSMUST00000022099
AA Change: F174I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000022099
Gene: ENSMUSG00000021608
AA Change: F174I

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
transmembrane domain 53 75 N/A INTRINSIC
PlsC 129 239 2.91e-25 SMART
Blast:PlsC 272 314 7e-9 BLAST
EFh 383 411 5.47e-1 SMART
EFh 420 448 4.98e1 SMART
EFh 455 483 4.93e0 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123766
SMART Domains Protein: ENSMUSP00000117965
Gene: ENSMUSG00000021608

DomainStartEndE-ValueType
low complexity region 4 23 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133791
Predicted Effect probably benign
Transcript: ENSMUST00000147566
Predicted Effect probably damaging
Transcript: ENSMUST00000223060
AA Change: F126I

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
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 member of the 1-acyl-sn-glycerol-3-phosphate acyltransferase family of proteins. The encoded enzyme plays a role in phospholipid metabolism, specifically in the conversion of lysophosphatidylcholine to phosphatidylcholine in the presence of acyl-CoA. This process is important in the synthesis of lung surfactant and platelet-activating factor (PAF). Elevated expression of this gene may contribute to the progression of oral squamous cell, prostate, breast, and other human cancers. [provided by RefSeq, Sep 2016]
PHENOTYPE: Some mice homozygous for a gene trapped allele exhibit neonatal lethality associated with respiratory distress, cyanosis, atelectasis, lung hemorrhage, and defective surfactant function. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700001O22Rik A T 2: 30,797,936 F215Y probably damaging Het
2700049A03Rik T C 12: 71,194,468 probably null Het
Akip1 C T 7: 109,711,838 T195M probably damaging Het
Arhgef16 T C 4: 154,280,244 N631S probably benign Het
Brat1 C T 5: 140,717,177 S544L probably damaging Het
Cfap65 C T 1: 74,919,183 probably null Het
D17Wsu92e A T 17: 27,786,069 probably null Het
Defa22 T A 8: 21,163,037 probably null Het
Dnajc4 C T 19: 6,989,501 R153H probably benign Het
Dusp11 A G 6: 85,952,370 probably benign Het
E2f4 T A 8: 105,304,177 probably benign Het
Ece1 T A 4: 137,938,658 L271Q probably damaging Het
Fcgrt T C 7: 45,093,328 D343G probably damaging Het
Igsf10 T C 3: 59,331,524 E412G probably damaging Het
Il4ra G T 7: 125,575,914 L431F possibly damaging Het
Krt86 T A 15: 101,475,425 L200Q probably damaging Het
Prag1 A G 8: 36,099,931 T79A probably benign Het
Pramef12 A T 4: 144,393,094 I301N probably benign Het
Psg29 G T 7: 17,204,925 L41F probably benign Het
Rai14 C T 15: 10,599,711 probably benign Het
Reg3a A G 6: 78,383,245 D136G probably benign Het
Rif1 A G 2: 52,111,303 T1590A probably benign Het
Rorb A T 19: 18,957,328 L300* probably null Het
Sin3b T C 8: 72,731,105 C150R possibly damaging Het
Smarcc1 C A 9: 110,221,937 H942N probably damaging Het
Tas2r105 A G 6: 131,687,111 V118A probably benign Het
Tmem131 T C 1: 36,829,581 S388G probably damaging Het
Ttll9 C A 2: 153,002,889 probably benign Het
Ush1c A G 7: 46,209,901 L498P probably damaging Het
Vmn2r100 A G 17: 19,521,356 Y110C probably damaging Het
Zbtb11 T C 16: 56,006,007 Y800H probably damaging Het
Zdhhc20 T A 14: 57,865,589 E101V probably damaging Het
Other mutations in Lpcat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02869:Lpcat1 APN 13 73484298 missense probably damaging 1.00
abajo UTSW 13 73511379 missense probably damaging 1.00
R0064:Lpcat1 UTSW 13 73514466 missense probably damaging 1.00
R1666:Lpcat1 UTSW 13 73510123 critical splice donor site probably null
R3826:Lpcat1 UTSW 13 73489093 missense possibly damaging 0.89
R3829:Lpcat1 UTSW 13 73489093 missense possibly damaging 0.89
R3830:Lpcat1 UTSW 13 73489093 missense possibly damaging 0.89
R4987:Lpcat1 UTSW 13 73489103 critical splice donor site probably null
R6298:Lpcat1 UTSW 13 73510955 missense possibly damaging 0.58
R7066:Lpcat1 UTSW 13 73511381 missense probably benign 0.00
R7165:Lpcat1 UTSW 13 73514530 missense probably benign 0.11
R7552:Lpcat1 UTSW 13 73494895 missense probably damaging 0.99
R7961:Lpcat1 UTSW 13 73511379 missense probably damaging 1.00
R8009:Lpcat1 UTSW 13 73511379 missense probably damaging 1.00
R8247:Lpcat1 UTSW 13 73513952 missense probably damaging 0.98
R8482:Lpcat1 UTSW 13 73510925 missense probably benign 0.14
Posted On2013-06-21