Incidental Mutation 'IGL00742:Lpgat1'
ID11800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpgat1
Ensembl Gene ENSMUSG00000026623
Gene Namelysophosphatidylglycerol acyltransferase 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.414) question?
Stock #IGL00742
Quality Score
Status
Chromosome1
Chromosomal Location191717834-191784255 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 191760209 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 269 (E269G)
Ref Sequence ENSEMBL: ENSMUSP00000106480 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110855] [ENSMUST00000110856] [ENSMUST00000130876]
Predicted Effect probably benign
Transcript: ENSMUST00000110855
AA Change: E230G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000106479
Gene: ENSMUSG00000026623
AA Change: E230G

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
AA Change: E269G

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000106480
Gene: ENSMUSG00000026623
AA Change: E269G

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
Coding Region Coverage
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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adck5 G T 15: 76,589,100 A50S possibly damaging Het
Adgrg2 C T X: 160,488,719 T778M probably damaging Het
Aimp1 G A 3: 132,671,981 Q208* probably null Het
Auh T C 13: 52,838,102 E210G probably damaging Het
Cdh7 T G 1: 110,065,626 N270K probably benign Het
Chrna9 A G 5: 65,971,115 E218G probably benign Het
Cntn5 G T 9: 9,976,297 T214K probably damaging Het
Col11a1 A T 3: 114,124,315 D766V unknown Het
Ddb1 A G 19: 10,610,760 N203S probably benign Het
Eefsec A T 6: 88,376,279 L136Q possibly damaging Het
Hdac6 T C X: 7,931,329 D1019G probably benign Het
Ift88 T A 14: 57,481,386 probably benign Het
Igf1r T A 7: 68,190,023 C693S probably benign Het
Il18r1 T A 1: 40,480,991 S181T probably benign Het
Krt35 T C 11: 100,093,959 Q291R probably damaging Het
Krt81 G A 15: 101,460,278 R365C probably benign Het
Lpin3 A G 2: 160,893,998 D66G probably damaging Het
Map9 T C 3: 82,363,420 V97A probably benign Het
Mcm3ap A G 10: 76,492,935 E1129G probably damaging Het
Mmrn1 A T 6: 60,958,120 H200L probably damaging Het
Mycbp2 A G 14: 103,201,352 L2031S probably damaging Het
Nfatc1 C T 18: 80,698,014 R243H probably benign Het
Olfr615 A T 7: 103,561,356 Y293F probably damaging Het
Omg T A 11: 79,503,913 probably benign Het
Postn T A 3: 54,372,894 N413K possibly damaging Het
Ppp1r3a T C 6: 14,718,609 T769A probably benign Het
Pvr G A 7: 19,914,859 P244S probably damaging Het
Rabl6 T C 2: 25,588,687 E244G probably damaging Het
Satb2 A T 1: 56,831,541 N428K possibly damaging Het
Svopl A G 6: 38,031,017 probably null Het
Synpo2 G T 3: 123,113,876 P597Q probably damaging Het
Tacc3 T A 5: 33,661,234 H4Q possibly damaging Het
Ugt2b5 C T 5: 87,127,814 G393S probably damaging Het
Vmn2r5 A G 3: 64,491,413 I715T possibly damaging Het
Other mutations in Lpgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-12-06