Incidental Mutation 'R4087:Lpgat1'
ID317403
Institutional Source Beutler Lab
Gene Symbol Lpgat1
Ensembl Gene ENSMUSG00000026623
Gene Namelysophosphatidylglycerol acyltransferase 1
Synonyms
MMRRC Submission 040980-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.419) question?
Stock #R4087 (G1)
Quality Score225
Status Validated
Chromosome1
Chromosomal Location191717834-191784255 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 191763616 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 306 (I306F)
Ref Sequence ENSEMBL: ENSMUSP00000106480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110855] [ENSMUST00000110856] [ENSMUST00000130876]
Predicted Effect possibly damaging
Transcript: ENSMUST00000110855
AA Change: I267F

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106479
Gene: ENSMUSG00000026623
AA Change: I267F

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
PlsC 95 219 2.16e-10 SMART
transmembrane domain 339 361 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110856
AA Change: I306F

PolyPhen 2 Score 0.825 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623
AA Change: I306F

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
transmembrane domain 59 81 N/A INTRINSIC
transmembrane domain 93 115 N/A INTRINSIC
PlsC 134 258 2.16e-10 SMART
Pfam:Acyltransf_C 310 384 1.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000130876
SMART Domains Protein: ENSMUSP00000114382
Gene: ENSMUSG00000026623

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
transmembrane domain 54 76 N/A INTRINSIC
PlsC 95 219 2.16e-10 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180108
Meta Mutation Damage Score 0.1327 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.3%
Validation Efficiency 96% (50/52)
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 lysophospholipid acyltransferase family. The encoded protein catalyzes the reacylation of lysophosphatidylglycerol to phosphatidylglycerol, a membrane phospholipid that is an important precursor for the synthesis of cardiolipin. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A530064D06Rik A G 17: 48,166,510 S80P probably damaging Het
Acss3 T G 10: 107,053,452 Y169S probably damaging Het
Cep250 G A 2: 155,992,632 R2159K probably damaging Het
Cldn34c4 A T X: 127,721,388 V153E probably damaging Het
Col4a4 T A 1: 82,523,922 Y370F unknown Het
Col6a6 A T 9: 105,783,956 I318N possibly damaging Het
Csmd1 T A 8: 15,992,738 I2332F probably damaging Het
Dnajc28 G A 16: 91,616,867 T187M probably damaging Het
Dym T A 18: 75,230,101 Y559N probably damaging Het
Eif3g A G 9: 20,897,952 V59A possibly damaging Het
Fam171a1 G A 2: 3,226,296 R697Q probably damaging Het
Fermt3 T A 19: 7,003,577 probably null Het
Git2 A G 5: 114,764,405 Y189H probably damaging Het
Gkn3 C T 6: 87,383,525 A163T probably damaging Het
Gm7713 C T 15: 59,994,409 noncoding transcript Het
Gpr108 A G 17: 57,237,925 Y313H probably damaging Het
Kcnh8 T C 17: 52,803,400 I213T possibly damaging Het
Mapk8 T C 14: 33,390,248 T228A probably benign Het
Med12l T C 3: 59,297,921 V2101A probably benign Het
Mettl13 T C 1: 162,548,202 K19E possibly damaging Het
Mta1 A G 12: 113,112,182 Y22C probably damaging Het
Notch3 T C 17: 32,158,113 T273A possibly damaging Het
Notch4 T C 17: 34,584,435 W1443R probably damaging Het
Npy5r T A 8: 66,682,045 D32V probably damaging Het
Olfr1083-ps C A 2: 86,606,953 *206L probably null Het
Rbm47 A G 5: 66,022,737 M409T probably benign Het
Rnf144a C T 12: 26,327,592 V51I probably damaging Het
Rxfp1 T A 3: 79,644,949 T682S probably damaging Het
Sertad2 GCCCC GCCCCC 11: 20,648,664 probably null Het
Sos1 A G 17: 80,449,352 V257A probably benign Het
Ssfa2 C T 2: 79,658,347 Q925* probably null Het
Tdrd9 C T 12: 112,013,486 Q256* probably null Het
Tmprss11d A T 5: 86,309,279 S174T probably damaging Het
Tor1b T A 2: 30,956,519 I238N probably damaging Het
Tppp2 T C 14: 51,919,500 probably null Het
Traf3ip3 A G 1: 193,181,320 V414A probably damaging Het
Trim14 T A 4: 46,523,709 T110S probably benign Het
Trim30d T C 7: 104,487,800 N66D probably damaging Het
Usp48 A G 4: 137,623,340 N46S possibly damaging Het
Vmn2r115 A C 17: 23,346,384 Q415P probably benign Het
Wbp2nl A G 15: 82,308,561 M149V probably benign Het
Zfp106 T C 2: 120,526,899 probably null Het
Zfp281 T A 1: 136,626,121 I279N probably damaging Het
Other mutations in Lpgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Lpgat1 APN 1 191760209 missense probably benign 0.01
IGL01410:Lpgat1 APN 1 191776432 splice site probably null
R0324:Lpgat1 UTSW 1 191749642 missense probably damaging 1.00
R0386:Lpgat1 UTSW 1 191719348 splice site probably benign
R1568:Lpgat1 UTSW 1 191776426 missense possibly damaging 0.92
R1616:Lpgat1 UTSW 1 191763629 missense possibly damaging 0.96
R2440:Lpgat1 UTSW 1 191760209 missense probably benign 0.01
R4152:Lpgat1 UTSW 1 191719488 nonsense probably null
R4720:Lpgat1 UTSW 1 191763667 missense probably damaging 1.00
R4962:Lpgat1 UTSW 1 191719570 missense probably damaging 1.00
R5828:Lpgat1 UTSW 1 191776382 missense possibly damaging 0.53
R6343:Lpgat1 UTSW 1 191776572 splice site probably null
R7326:Lpgat1 UTSW 1 191719453 missense probably benign 0.03
RF014:Lpgat1 UTSW 1 191718553 small insertion probably benign
Z1176:Lpgat1 UTSW 1 191778475 missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TCAAAACAAAGGCACATTAGTCTGC -3'
(R):5'- GCCATGCAACACTGGTTTTAG -3'

Sequencing Primer
(F):5'- AAGGCACATTAGTCTGCTTCAGC -3'
(R):5'- GCCATGCAACACTGGTTTTAGAAATC -3'
Posted On2015-05-15