Incidental Mutation 'IGL00742:Lpgat1'
ID 11800
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Lpgat1
Ensembl Gene ENSMUSG00000026623
Gene Name lysophosphatidylglycerol acyltransferase 1
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.570) question?
Stock # IGL00742
Quality Score
Status
Chromosome 1
Chromosomal Location 191449946-191516367 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 191492321 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q91YX5
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: 76,473,300 (GRCm39) A50S possibly damaging Het
Adgrg2 C T X: 159,271,715 (GRCm39) T778M probably damaging Het
Aimp1 G A 3: 132,377,742 (GRCm39) Q208* probably null Het
Auh T C 13: 52,992,138 (GRCm39) E210G probably damaging Het
Cdh20 T G 1: 109,993,356 (GRCm39) N270K probably benign Het
Chrna9 A G 5: 66,128,458 (GRCm39) E218G probably benign Het
Cntn5 G T 9: 9,976,302 (GRCm39) T214K probably damaging Het
Col11a1 A T 3: 113,917,964 (GRCm39) D766V unknown Het
Ddb1 A G 19: 10,588,124 (GRCm39) N203S probably benign Het
Eefsec A T 6: 88,353,261 (GRCm39) L136Q possibly damaging Het
Hdac6 T C X: 7,797,568 (GRCm39) D1019G probably benign Het
Ift88 T A 14: 57,718,843 (GRCm39) probably benign Het
Igf1r T A 7: 67,839,771 (GRCm39) C693S probably benign Het
Il18r1 T A 1: 40,520,151 (GRCm39) S181T probably benign Het
Krt35 T C 11: 99,984,785 (GRCm39) Q291R probably damaging Het
Krt81 G A 15: 101,358,159 (GRCm39) R365C probably benign Het
Lpin3 A G 2: 160,735,918 (GRCm39) D66G probably damaging Het
Map9 T C 3: 82,270,727 (GRCm39) V97A probably benign Het
Mcm3ap A G 10: 76,328,769 (GRCm39) E1129G probably damaging Het
Mmrn1 A T 6: 60,935,104 (GRCm39) H200L probably damaging Het
Mycbp2 A G 14: 103,438,788 (GRCm39) L2031S probably damaging Het
Nfatc1 C T 18: 80,741,229 (GRCm39) R243H probably benign Het
Omg T A 11: 79,394,739 (GRCm39) probably benign Het
Or51ah3 A T 7: 103,210,563 (GRCm39) Y293F probably damaging Het
Postn T A 3: 54,280,315 (GRCm39) N413K possibly damaging Het
Ppp1r3a T C 6: 14,718,608 (GRCm39) T769A probably benign Het
Pvr G A 7: 19,648,784 (GRCm39) P244S probably damaging Het
Rabl6 T C 2: 25,478,699 (GRCm39) E244G probably damaging Het
Satb2 A T 1: 56,870,700 (GRCm39) N428K possibly damaging Het
Svopl A G 6: 38,007,952 (GRCm39) probably null Het
Synpo2 G T 3: 122,907,525 (GRCm39) P597Q probably damaging Het
Tacc3 T A 5: 33,818,578 (GRCm39) H4Q possibly damaging Het
Ugt2b5 C T 5: 87,275,673 (GRCm39) G393S probably damaging Het
Vmn2r5 A G 3: 64,398,834 (GRCm39) I715T possibly damaging Het
Other mutations in Lpgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R0386:Lpgat1 UTSW 1 191,451,460 (GRCm39) splice site probably benign
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
Posted On 2012-12-06