Incidental Mutation 'R9352:Lclat1'
ID 708184
Institutional Source Beutler Lab
Gene Symbol Lclat1
Ensembl Gene ENSMUSG00000054469
Gene Name lysocardiolipin acyltransferase 1
Synonyms AGPAT8, Lycat, ALCAT1
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.133) question?
Stock # R9352 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 73414980-73550363 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 73468937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 39 (Y39C)
Ref Sequence ENSEMBL: ENSMUSP00000068690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000067545] [ENSMUST00000130574] [ENSMUST00000149064]
AlphaFold Q3UN02
Predicted Effect probably damaging
Transcript: ENSMUST00000067545
AA Change: Y39C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000068690
Gene: ENSMUSG00000054469
AA Change: Y39C

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 probably damaging
Transcript: ENSMUST00000130574
AA Change: Y16C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
Predicted Effect probably damaging
Transcript: ENSMUST00000149064
AA Change: Y16C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119291
Gene: ENSMUSG00000054469
AA Change: Y16C

DomainStartEndE-ValueType
PlsC 56 178 8.7e-15 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
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: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl3 A T 7: 82,091,656 (GRCm39) Q123L probably damaging Het
Adarb2 T A 13: 8,807,428 (GRCm39) L743Q probably damaging Het
Alpk2 C A 18: 65,439,783 (GRCm39) D537Y probably benign Het
Anxa4 C T 6: 86,742,775 (GRCm39) probably benign Het
Arfgap3 T A 15: 83,191,127 (GRCm39) I464L possibly damaging Het
Asb2 C T 12: 103,296,698 (GRCm39) V320I probably damaging Het
Axl T C 7: 25,462,752 (GRCm39) T659A possibly damaging Het
Bbof1 A G 12: 84,461,394 (GRCm39) H139R probably benign Het
Birc6 G A 17: 74,965,347 (GRCm39) probably null Het
Cdh23 G A 10: 60,143,306 (GRCm39) A3005V possibly damaging Het
Chil3 A T 3: 106,067,787 (GRCm39) F126Y probably damaging Het
Chrnb4 T A 9: 54,951,167 (GRCm39) D32V probably benign Het
Chst15 C A 7: 131,872,257 (GRCm39) C8F probably damaging Het
Cntnap5c A G 17: 58,399,463 (GRCm39) I439V probably benign Het
Crisp2 T A 17: 41,078,200 (GRCm39) N194I probably damaging Het
Csrnp1 G A 9: 119,801,997 (GRCm39) T354M probably benign Het
Cul1 T A 6: 47,479,426 (GRCm39) S231T probably benign Het
Cyp27a1 C T 1: 74,752,920 (GRCm39) T44M possibly damaging Het
Dgkg T C 16: 22,398,581 (GRCm39) D232G probably damaging Het
Dnah1 G T 14: 31,038,620 (GRCm39) Q154K probably benign Het
Dnmt1 A G 9: 20,840,384 (GRCm39) V304A probably benign Het
Dok6 T C 18: 89,492,133 (GRCm39) N148S probably benign Het
Fnta A T 8: 26,501,119 (GRCm39) W134R probably damaging Het
Garin5b T A 7: 4,761,605 (GRCm39) Y369F Het
Gm32742 T G 9: 51,052,544 (GRCm39) Q1441P possibly damaging Het
Gm3486 T C 14: 41,208,318 (GRCm39) Q131R possibly damaging Het
Gnptab A G 10: 88,268,350 (GRCm39) N486D probably benign Het
H2-Q4 T G 17: 35,601,909 (GRCm39) F257C probably damaging Het
Hfe A G 13: 23,890,119 (GRCm39) V218A probably benign Het
Htr2b A G 1: 86,027,294 (GRCm39) V404A probably benign Het
Hyou1 T A 9: 44,300,926 (GRCm39) probably null Het
Ikbkb T C 8: 23,150,444 (GRCm39) D746G probably benign Het
Ikzf4 T C 10: 128,472,623 (GRCm39) N251S probably benign Het
Il23r A C 6: 67,403,592 (GRCm39) N436K probably damaging Het
Impg2 A T 16: 56,072,470 (GRCm39) I301L probably benign Het
Irf4 A T 13: 30,936,706 (GRCm39) M146L probably benign Het
Iws1 G A 18: 32,213,213 (GRCm39) E214K possibly damaging Het
Kctd3 T C 1: 188,704,777 (GRCm39) S665G probably damaging Het
Kiz T C 2: 146,794,927 (GRCm39) S596P probably damaging Het
Kpna2 T C 11: 106,880,292 (GRCm39) E452G probably damaging Het
Lig3 A G 11: 82,686,971 (GRCm39) S705G probably benign Het
Lrp1b T C 2: 40,748,438 (GRCm39) D3134G Het
Map3k8 C T 18: 4,349,170 (GRCm39) M49I probably benign Het
Mep1b A G 18: 21,209,431 (GRCm39) D54G probably damaging Het
Mgat5b T A 11: 116,857,533 (GRCm39) S342R probably benign Het
Mthfd2l G T 5: 91,109,172 (GRCm39) V201L possibly damaging Het
Naip6 G T 13: 100,437,893 (GRCm39) T371K possibly damaging Het
Naxd T C 8: 11,555,504 (GRCm39) I104T probably damaging Het
Nbeal2 T A 9: 110,456,916 (GRCm39) I2361F probably benign Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Or1e17 A G 11: 73,831,470 (GRCm39) T133A probably benign Het
Or6c75 A T 10: 129,337,364 (GRCm39) M196L probably benign Het
Or8b8 A G 9: 37,808,712 (GRCm39) E4G probably benign Het
Or8c16 T G 9: 38,130,683 (GRCm39) L185R probably damaging Het
Pga5 C T 19: 10,646,897 (GRCm39) G303S probably damaging Het
Polq T C 16: 36,862,252 (GRCm39) F591L probably damaging Het
Ppp2r1a A T 17: 21,185,499 (GRCm39) probably null Het
Prrc1 A G 18: 57,522,317 (GRCm39) Y383C probably damaging Het
Ptgfr A T 3: 151,541,160 (GRCm39) V116D probably damaging Het
Qpctl C T 7: 18,878,599 (GRCm39) R292Q possibly damaging Het
Rasip1 G A 7: 45,278,280 (GRCm39) V194M possibly damaging Het
Rbbp4 A T 4: 129,211,498 (GRCm39) N385K probably benign Het
Rbbp8nl A G 2: 179,921,053 (GRCm39) S444P probably benign Het
Resf1 T C 6: 149,236,180 (GRCm39) F1500S probably damaging Het
Sf3a1 G A 11: 4,110,494 (GRCm39) A3T unknown Het
Slc1a4 A G 11: 20,282,025 (GRCm39) S150P probably damaging Het
Slc28a2 T C 2: 122,281,522 (GRCm39) probably null Het
Slc30a5 A G 13: 100,940,380 (GRCm39) I702T probably benign Het
Slc36a4 T A 9: 15,633,319 (GRCm39) probably null Het
Slf2 A G 19: 44,931,957 (GRCm39) R671G probably null Het
Smarcc1 A G 9: 110,035,220 (GRCm39) K881R probably null Het
Srsf11 A G 3: 157,717,836 (GRCm39) V414A unknown Het
Tcn2 T C 11: 3,873,446 (GRCm39) N300S probably damaging Het
Tecta T C 9: 42,249,147 (GRCm39) K1905R probably damaging Het
Tex30 T G 1: 44,130,753 (GRCm39) probably null Het
Tktl2 A T 8: 66,965,974 (GRCm39) I511F possibly damaging Het
Tpp1 G T 7: 105,398,881 (GRCm39) Q183K probably benign Het
Trib2 A C 12: 15,865,413 (GRCm39) I30R probably benign Het
Tti1 A G 2: 157,842,692 (GRCm39) L779P probably benign Het
Unc13b CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC 4: 43,177,312 (GRCm39) probably benign Het
Unc13b GAGCCA GAGCCATAGCCA 4: 43,177,313 (GRCm39) probably null Het
Vmn2r112 A G 17: 22,822,479 (GRCm39) T386A probably damaging Het
Vps16 T C 2: 130,283,823 (GRCm39) probably null Het
Zan T G 5: 137,434,745 (GRCm39) N2186T unknown Het
Zdhhc11 C T 13: 74,121,800 (GRCm39) R104* probably null Het
Zfp318 T G 17: 46,721,284 (GRCm39) H1176Q probably damaging Het
Zfp335 G A 2: 164,742,242 (GRCm39) H581Y probably damaging Het
Zfp7 T C 15: 76,775,674 (GRCm39) I572T probably damaging Het
Zfp955a T C 17: 33,461,335 (GRCm39) T266A probably benign Het
Other mutations in Lclat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02616:Lclat1 APN 17 73,476,528 (GRCm39) missense probably benign 0.35
IGL03112:Lclat1 APN 17 73,546,742 (GRCm39) missense probably damaging 1.00
R0270:Lclat1 UTSW 17 73,547,022 (GRCm39) missense probably benign 0.33
R1661:Lclat1 UTSW 17 73,494,999 (GRCm39) missense probably damaging 1.00
R1665:Lclat1 UTSW 17 73,494,999 (GRCm39) missense probably damaging 1.00
R1674:Lclat1 UTSW 17 73,546,776 (GRCm39) missense probably damaging 1.00
R1678:Lclat1 UTSW 17 73,503,715 (GRCm39) missense probably damaging 0.97
R4785:Lclat1 UTSW 17 73,547,065 (GRCm39) nonsense probably null
R5458:Lclat1 UTSW 17 73,546,914 (GRCm39) missense probably damaging 1.00
R6455:Lclat1 UTSW 17 73,468,828 (GRCm39) missense probably damaging 0.99
R7063:Lclat1 UTSW 17 73,546,986 (GRCm39) missense possibly damaging 0.58
R7635:Lclat1 UTSW 17 73,468,931 (GRCm39) missense probably benign 0.01
R9217:Lclat1 UTSW 17 73,494,879 (GRCm39) missense probably damaging 0.99
R9300:Lclat1 UTSW 17 73,546,919 (GRCm39) missense probably benign 0.33
X0028:Lclat1 UTSW 17 73,476,513 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTGTGATGAAATTCCAGAGCAAATG -3'
(R):5'- CCTATGAGGGTTTGCTTTAAGGAC -3'

Sequencing Primer
(F):5'- TCCTGTTTGCTGGAAGCT -3'
(R):5'- CATCTGGAATGCTTACTATAGAACAC -3'
Posted On 2022-04-18