Incidental Mutation 'R0386:Lpgat1'
ID 65503
Institutional Source Beutler Lab
Gene Symbol Lpgat1
Ensembl Gene ENSMUSG00000026623
Gene Name lysophosphatidylglycerol acyltransferase 1
Synonyms
MMRRC Submission 038592-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # R0386 (G1)
Quality Score 126
Status Validated
Chromosome 1
Chromosomal Location 191449946-191516367 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to T at 191451460 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000115255 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110855] [ENSMUST00000110856] [ENSMUST00000130876] [ENSMUST00000133076]
AlphaFold Q91YX5
Predicted Effect probably benign
Transcript: ENSMUST00000110855
SMART Domains Protein: ENSMUSP00000106479
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
transmembrane domain 339 361 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110856
SMART Domains Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623

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 probably benign
Transcript: ENSMUST00000133076
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138494
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.3%
Validation Efficiency 98% (56/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh A G 5: 77,044,308 (GRCm39) V194A probably damaging Het
Adamts13 G A 2: 26,876,691 (GRCm39) probably null Het
Ahnak T C 19: 8,988,508 (GRCm39) M3264T possibly damaging Het
Birc6 T A 17: 74,906,335 (GRCm39) C1409S probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Dnah2 A G 11: 69,338,687 (GRCm39) V3161A probably damaging Het
Dnah5 A T 15: 28,383,727 (GRCm39) Y2983F probably damaging Het
Dnah6 G A 6: 73,060,107 (GRCm39) L2774F probably damaging Het
Dst A T 1: 34,256,917 (GRCm39) T4398S probably damaging Het
Efcab5 G A 11: 77,031,749 (GRCm39) R42W probably damaging Het
Efcab5 A T 11: 77,063,204 (GRCm39) M96K probably benign Het
Elavl4 A G 4: 110,063,902 (GRCm39) probably benign Het
Flt4 G A 11: 49,535,213 (GRCm39) A1214T probably benign Het
Fn1 G T 1: 71,634,945 (GRCm39) T2127N probably damaging Het
Foxj1 A T 11: 116,222,629 (GRCm39) S391R possibly damaging Het
Gabrb1 A T 5: 72,266,150 (GRCm39) Y269F probably damaging Het
Ghitm A G 14: 36,847,868 (GRCm39) S259P possibly damaging Het
Gm16332 A G 1: 139,851,928 (GRCm39) noncoding transcript Het
Gm16380 T A 9: 53,791,727 (GRCm39) noncoding transcript Het
Gm9869 A T 9: 60,745,344 (GRCm39) probably benign Het
Gm9936 G A 5: 114,995,192 (GRCm39) Q142* probably null Het
Hmbs T C 9: 44,248,305 (GRCm39) Y260C probably benign Het
Hoxc5 T A 15: 102,923,784 (GRCm39) C193* probably null Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Lce1j T C 3: 92,696,695 (GRCm39) K28E unknown Het
Lyst T C 13: 13,882,799 (GRCm39) probably benign Het
Megf11 A G 9: 64,547,360 (GRCm39) N235D probably damaging Het
Mst1r T A 9: 107,794,003 (GRCm39) probably null Het
Nr2c2ap A G 8: 70,584,237 (GRCm39) D9G probably benign Het
Obscn T C 11: 59,027,165 (GRCm39) T13A probably damaging Het
Ofcc1 A C 13: 40,367,950 (GRCm39) L188* probably null Het
Oma1 A T 4: 103,182,398 (GRCm39) probably benign Het
Or10aa3 A T 1: 173,877,965 (GRCm39) T9S probably benign Het
Or5m11 A G 2: 85,782,217 (GRCm39) E270G probably damaging Het
Pcm1 T C 8: 41,769,060 (GRCm39) F1642S probably damaging Het
Pglyrp2 A G 17: 32,639,836 (GRCm39) M1T probably null Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Prdm10 C A 9: 31,227,596 (GRCm39) T67K probably damaging Het
Ralgapa1 A T 12: 55,754,852 (GRCm39) H1193Q probably benign Het
Sall1 A G 8: 89,759,232 (GRCm39) S291P probably damaging Het
Sdk2 T C 11: 113,784,290 (GRCm39) T150A probably damaging Het
Sel1l2 T A 2: 140,117,361 (GRCm39) Y170F probably benign Het
Sema4a C T 3: 88,344,107 (GRCm39) V715I possibly damaging Het
Smgc G A 15: 91,738,841 (GRCm39) A500T probably benign Het
Spef2 A G 15: 9,584,148 (GRCm39) V1639A probably damaging Het
Srrm4 A G 5: 116,620,437 (GRCm39) probably benign Het
Tbc1d23 G A 16: 57,009,636 (GRCm39) H418Y probably damaging Het
Tbk1 A G 10: 121,420,159 (GRCm39) L10P probably damaging Het
Thumpd3 G A 6: 113,042,621 (GRCm39) probably null Het
Trp53bp1 G T 2: 121,035,424 (GRCm39) T1609K probably damaging Het
Tut1 A G 19: 8,932,919 (GRCm39) N84S probably benign Het
Urb1 C T 16: 90,593,287 (GRCm39) G282R probably damaging Het
Usp19 A T 9: 108,376,910 (GRCm39) D1160V probably damaging Het
Usp9y A G Y: 1,316,933 (GRCm39) V1872A probably damaging Het
Zfp276 C A 8: 123,986,242 (GRCm39) Y386* probably null Het
Other mutations in Lpgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00742:Lpgat1 APN 1 191,492,321 (GRCm39) missense probably benign 0.01
IGL01410:Lpgat1 APN 1 191,508,544 (GRCm39) splice site probably null
R0324:Lpgat1 UTSW 1 191,481,754 (GRCm39) missense probably damaging 1.00
R1568:Lpgat1 UTSW 1 191,508,538 (GRCm39) missense possibly damaging 0.92
R1616:Lpgat1 UTSW 1 191,495,741 (GRCm39) missense possibly damaging 0.96
R2440:Lpgat1 UTSW 1 191,492,321 (GRCm39) missense probably benign 0.01
R4087:Lpgat1 UTSW 1 191,495,728 (GRCm39) missense possibly damaging 0.82
R4152:Lpgat1 UTSW 1 191,451,600 (GRCm39) nonsense probably null
R4720:Lpgat1 UTSW 1 191,495,779 (GRCm39) missense probably damaging 1.00
R4962:Lpgat1 UTSW 1 191,451,682 (GRCm39) missense probably damaging 1.00
R5828:Lpgat1 UTSW 1 191,508,494 (GRCm39) missense possibly damaging 0.53
R6343:Lpgat1 UTSW 1 191,508,684 (GRCm39) splice site probably null
R7326:Lpgat1 UTSW 1 191,451,565 (GRCm39) missense probably benign 0.03
R8926:Lpgat1 UTSW 1 191,492,120 (GRCm39) missense probably damaging 1.00
R9096:Lpgat1 UTSW 1 191,451,569 (GRCm39) missense possibly damaging 0.50
R9339:Lpgat1 UTSW 1 191,451,488 (GRCm39) missense probably benign 0.00
R9750:Lpgat1 UTSW 1 191,510,587 (GRCm39) missense probably benign 0.05
RF014:Lpgat1 UTSW 1 191,450,665 (GRCm39) small insertion probably benign
Z1176:Lpgat1 UTSW 1 191,510,587 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TTCCCCTTCAGTGGCGAGGAAAAG -3'
(R):5'- GCATTGCAAATTGGTTCCTGGGC -3'

Sequencing Primer
(F):5'- AGAACGGCTCTCTTGACCTTG -3'
(R):5'- TGAGTCCTTCGATATACCAGAAGC -3'
Posted On 2013-08-08