Incidental Mutation 'IGL02616:Lclat1'
ID300676
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lclat1
Ensembl Gene ENSMUSG00000054469
Gene Namelysocardiolipin acyltransferase 1
SynonymsLycat, AGPAT8, ALCAT1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.112) question?
Stock #IGL02616
Quality Score
Status
Chromosome17
Chromosomal Location73107985-73243368 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 73169533 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 45 (I45T)
Ref Sequence ENSEMBL: ENSMUSP00000119291 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067545] [ENSMUST00000149064]
Predicted Effect probably benign
Transcript: ENSMUST00000067545
AA Change: I68T

PolyPhen 2 Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000068690
Gene: ENSMUSG00000054469
AA Change: I68T

DomainStartEndE-ValueType
transmembrane domain 9 31 N/A INTRINSIC
PlsC 79 201 8.7e-15 SMART
Pfam:Acyltransf_C 232 315 1e-20 PFAM
transmembrane domain 334 356 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131335
Predicted Effect probably benign
Transcript: ENSMUST00000149064
AA Change: I45T

PolyPhen 2 Score 0.348 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000119291
Gene: ENSMUSG00000054469
AA Change: I45T

DomainStartEndE-ValueType
PlsC 56 178 8.7e-15 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for a knock-out allele and fed a high fat diet exhibit resistance to diet induced obesity, decreased total body fat, increased insulin sensitivity, polyphagia, hyperactivity, increased energy expenditure, and increased fatty acid oxidation. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700003E16Rik A G 6: 83,161,662 R190G probably benign Het
4931406B18Rik T C 7: 43,501,013 probably null Het
Adcy4 T C 14: 55,783,514 probably null Het
Ahnak C A 19: 9,005,627 P1425Q probably benign Het
Arih1 A G 9: 59,412,476 V285A probably benign Het
Atp13a1 T C 8: 69,805,313 V906A probably benign Het
Atp2a2 A T 5: 122,461,684 I548N probably benign Het
C2cd5 A T 6: 143,035,111 S643T probably benign Het
Calcoco1 T C 15: 102,715,850 D210G probably damaging Het
Cep128 A G 12: 91,296,258 I289T probably benign Het
Ces1c C T 8: 93,106,615 M407I probably benign Het
Cntln T G 4: 85,115,452 probably null Het
Cypt12 T A 3: 17,948,728 H88Q possibly damaging Het
Ddc T A 11: 11,880,645 probably benign Het
Dnajb12 T C 10: 59,892,863 probably null Het
Gata2 A G 6: 88,205,480 T477A possibly damaging Het
Gckr A G 5: 31,327,075 D619G probably benign Het
Gm5699 A T 1: 30,998,351 noncoding transcript Het
Gm8257 T A 14: 44,655,226 S106C probably damaging Het
Gpr15 A C 16: 58,718,204 L174R probably damaging Het
Hnrnph3 T A 10: 63,019,485 H7L possibly damaging Het
Ide A T 19: 37,298,056 I518N unknown Het
Igdcc4 G A 9: 65,133,078 G957D probably damaging Het
Igsf10 G A 3: 59,318,606 P2549S probably benign Het
Kcnj9 A G 1: 172,325,964 S198P probably damaging Het
Met T C 6: 17,553,347 L1044S probably damaging Het
Msh4 T C 3: 153,857,523 T739A probably benign Het
Ncam1 T C 9: 49,508,688 E776G probably benign Het
Ndufv3 G A 17: 31,527,669 V178M probably damaging Het
Nlgn1 T C 3: 25,434,245 Y613C probably damaging Het
Nmbr T C 10: 14,760,687 probably benign Het
Orc1 T A 4: 108,595,479 W184R probably benign Het
Pde6b T C 5: 108,431,541 S850P probably benign Het
Pip5k1c C A 10: 81,317,321 probably null Het
Pnpt1 T C 11: 29,135,505 probably benign Het
Pomt2 T A 12: 87,124,862 H378L probably damaging Het
Sh3gl3 C T 7: 82,285,018 probably benign Het
Thsd7a A T 6: 12,408,985 N679K probably damaging Het
Tns2 T C 15: 102,111,415 M572T probably benign Het
Twf2 C T 9: 106,212,756 Q103* probably null Het
Uncx T C 5: 139,546,768 I196T possibly damaging Het
Urgcp A G 11: 5,717,400 S313P probably damaging Het
Vmn1r222 A T 13: 23,232,141 C301S possibly damaging Het
Vmn2r111 T A 17: 22,571,050 Q325L possibly damaging Het
Vps4a C T 8: 107,042,277 R236W probably damaging Het
Wdr19 T A 5: 65,223,581 H344Q probably damaging Het
Wiz A T 17: 32,359,469 D356E probably damaging Het
Zc3h10 T C 10: 128,544,882 E202G probably benign Het
Other mutations in Lclat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03112:Lclat1 APN 17 73239747 missense probably damaging 1.00
R0270:Lclat1 UTSW 17 73240027 missense probably benign 0.33
R1661:Lclat1 UTSW 17 73188004 missense probably damaging 1.00
R1665:Lclat1 UTSW 17 73188004 missense probably damaging 1.00
R1674:Lclat1 UTSW 17 73239781 missense probably damaging 1.00
R1678:Lclat1 UTSW 17 73196720 missense probably damaging 0.97
R4785:Lclat1 UTSW 17 73240070 nonsense probably null
R5458:Lclat1 UTSW 17 73239919 missense probably damaging 1.00
R6455:Lclat1 UTSW 17 73161833 missense probably damaging 0.99
R7063:Lclat1 UTSW 17 73239991 missense possibly damaging 0.58
R7635:Lclat1 UTSW 17 73161936 missense probably benign 0.01
X0028:Lclat1 UTSW 17 73169518 missense probably damaging 1.00
Posted On2015-04-16