Incidental Mutation 'R1568:Lpgat1'
ID175393
Institutional Source Beutler Lab
Gene Symbol Lpgat1
Ensembl Gene ENSMUSG00000026623
Gene Namelysophosphatidylglycerol acyltransferase 1
Synonyms
MMRRC Submission 039607-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.435) question?
Stock #R1568 (G1)
Quality Score225
Status Not validated
Chromosome1
Chromosomal Location191717834-191784255 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 191776426 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 359 (T359S)
Ref Sequence ENSEMBL: ENSMUSP00000106480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110855] [ENSMUST00000110856]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000082911
Predicted Effect possibly damaging
Transcript: ENSMUST00000110855
AA Change: T320S

PolyPhen 2 Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000106479
Gene: ENSMUSG00000026623
AA Change: T320S

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: T359S

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623
AA Change: T359S

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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.2%
  • 10x: 95.8%
  • 20x: 90.9%
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 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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610010F05Rik T C 11: 23,589,971 K48E probably damaging Het
4931408C20Rik T C 1: 26,685,869 T77A probably benign Het
Adam18 T G 8: 24,647,783 probably null Het
Adgb A T 10: 10,442,665 Y138* probably null Het
Adra1d T C 2: 131,546,172 R488G possibly damaging Het
Ahnak G A 19: 9,002,375 G341E probably damaging Het
Ankmy1 T C 1: 92,881,116 D690G probably damaging Het
Arhgef38 C T 3: 133,132,464 E21K probably damaging Het
Atp8b2 T C 3: 89,949,848 M402V probably damaging Het
Atp8b4 G T 2: 126,325,394 H1062N probably benign Het
Bdnf A G 2: 109,723,794 H131R probably damaging Het
Cblb C T 16: 52,135,829 T265M probably damaging Het
Cenpe T A 3: 135,239,758 M1011K probably benign Het
Clca2 A T 3: 145,075,649 Y711* probably null Het
Clca4a A G 3: 144,952,929 Y842H probably benign Het
Clspn T A 4: 126,581,517 M1021K probably benign Het
Cpne8 G T 15: 90,619,642 R107S probably damaging Het
D6Ertd527e C G 6: 87,111,524 T223S unknown Het
Dna2 C T 10: 62,949,187 R28W probably benign Het
Dnah5 T A 15: 28,409,177 N3580K probably damaging Het
Dsp T C 13: 38,175,147 I298T probably damaging Het
Dync2h1 T C 9: 7,157,553 K858R probably null Het
Fasn A T 11: 120,813,249 V1448E possibly damaging Het
Ghdc A G 11: 100,768,505 I322T probably benign Het
Gins2 T C 8: 120,582,200 D105G probably damaging Het
Insr A T 8: 3,165,576 D975E probably benign Het
Klrc3 T C 6: 129,639,547 D169G probably benign Het
Krt76 T A 15: 101,885,008 S532C unknown Het
Lamp3 A T 16: 19,673,525 M323K probably damaging Het
Lgmn T C 12: 102,394,609 I423M possibly damaging Het
Lrguk T A 6: 34,086,438 I466N probably damaging Het
Magi3 A C 3: 104,089,527 M234R probably benign Het
Myh14 G A 7: 44,611,698 R1042* probably null Het
Nfia T G 4: 98,111,224 Y378D possibly damaging Het
Npffr1 T A 10: 61,626,233 S383T possibly damaging Het
Olfr1308 C A 2: 111,960,240 V278F probably benign Het
Olfr1410 T C 1: 92,607,954 L39P probably damaging Het
Olfr1466 C A 19: 13,342,175 P139Q probably benign Het
Olfr658 T A 7: 104,644,770 I199F probably benign Het
Osr1 G A 12: 9,579,798 probably null Het
Pde4b A C 4: 102,597,699 R375S probably damaging Het
Pde8a A G 7: 81,292,263 E150G probably damaging Het
Pkhd1l1 A T 15: 44,545,501 probably null Het
Ppp3ca A G 3: 136,928,544 T422A probably benign Het
Proser1 T C 3: 53,477,759 V354A possibly damaging Het
Rgs20 G T 1: 5,020,827 R127S probably benign Het
Sec22a T C 16: 35,347,628 D171G probably benign Het
Secisbp2 A G 13: 51,673,107 E417G possibly damaging Het
Serpinb6b T C 13: 32,974,912 L32S probably damaging Het
Sf3b1 C G 1: 55,019,395 E12Q possibly damaging Het
Slc39a10 A T 1: 46,826,215 S487T probably benign Het
Slc6a1 G T 6: 114,307,770 G263V probably damaging Het
Spag6 A G 2: 18,733,114 D265G probably benign Het
Sybu G T 15: 44,718,832 S132* probably null Het
Virma T C 4: 11,528,776 S1288P probably damaging Het
Vmn1r229 T A 17: 20,814,805 V104D probably damaging Het
Vmn1r238 T C 18: 3,123,358 T19A probably benign Het
Vmn2r86 C T 10: 130,453,141 V164I probably benign Het
Wfdc13 G T 2: 164,686,934 A64S probably damaging Het
Zfp873 C A 10: 82,060,279 H318Q probably damaging Het
Zyg11a A G 4: 108,183,646 probably null 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
R1616:Lpgat1 UTSW 1 191763629 missense possibly damaging 0.96
R2440:Lpgat1 UTSW 1 191760209 missense probably benign 0.01
R4087:Lpgat1 UTSW 1 191763616 missense possibly damaging 0.82
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 intron 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'- TCATAAAGCAGCATGGCTAAGGGAC -3'
(R):5'- TCACACAGGATGAGCAACGGTG -3'

Sequencing Primer
(F):5'- AGGGACATTTTTTGCCTAGCAC -3'
(R):5'- ccatctctatctccatcacaacc -3'
Posted On2014-04-24