Incidental Mutation 'IGL02228:Agpat1'
ID 285394
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agpat1
Ensembl Gene ENSMUSG00000034254
Gene Name 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha)
Synonyms Lpaat-alpha, 1-AGP
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.797) question?
Stock # IGL02228
Quality Score
Status
Chromosome 17
Chromosomal Location 34604262-34613449 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 34610562 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 37 (F37L)
Ref Sequence ENSEMBL: ENSMUSP00000134242 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015611] [ENSMUST00000037489] [ENSMUST00000097345] [ENSMUST00000114140] [ENSMUST00000168353] [ENSMUST00000173242] [ENSMUST00000173973] [ENSMUST00000174041] [ENSMUST00000174228] [ENSMUST00000174595]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000015611
SMART Domains Protein: ENSMUSP00000015611
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 36 102 4.3e-20 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000037489
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000048573
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000097345
SMART Domains Protein: ENSMUSP00000094958
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 34 104 3e-16 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114140
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000109776
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000166095
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168327
Predicted Effect probably benign
Transcript: ENSMUST00000168353
SMART Domains Protein: ENSMUSP00000128433
Gene: ENSMUSG00000015467

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
Pfam:EMI 34 104 7.4e-16 PFAM
EGF 113 142 5.49e-3 SMART
EGF_CA 144 184 2.58e-8 SMART
coiled coil region 206 228 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168709
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170850
Predicted Effect noncoding transcript
Transcript: ENSMUST00000173146
Predicted Effect possibly damaging
Transcript: ENSMUST00000173242
AA Change: F37L

PolyPhen 2 Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000134242
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
Pfam:Acyltransferase 80 149 1.2e-14 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000173973
AA Change: F37L

PolyPhen 2 Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000133947
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 7 25 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174041
AA Change: F37L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000133441
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 198 6.63e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000174228
AA Change: F37L

PolyPhen 2 Score 0.271 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000133876
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000174595
AA Change: F37L

PolyPhen 2 Score 0.424 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000134358
Gene: ENSMUSG00000034254
AA Change: F37L

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
transmembrane domain 38 60 N/A INTRINSIC
low complexity region 66 71 N/A INTRINSIC
PlsC 95 210 4.64e-42 SMART
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 an enzyme that converts lysophosphatidic acid (LPA) into phosphatidic acid (PA). LPA and PA are two phospholipids involved in signal transduction and in lipid biosynthesis in cells. This enzyme localizes to the endoplasmic reticulum. This gene is located in the class III region of the human major histocompatibility complex. Alternative splicing results in two transcript variants encoding the same protein. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot1 T C 12: 84,016,964 V282A probably benign Het
Acsm5 A G 7: 119,531,866 D169G probably damaging Het
Adam8 C T 7: 139,988,806 probably null Het
Asah2 A T 19: 32,016,714 D410E probably benign Het
Atg2a T A 19: 6,246,800 V378D probably benign Het
Atp1a4 T C 1: 172,254,885 Y130C possibly damaging Het
B020004J07Rik T C 4: 101,836,858 Y276C probably benign Het
Bnc2 T C 4: 84,293,076 H419R possibly damaging Het
Capza3 A G 6: 140,041,915 D80G probably benign Het
Col6a4 C T 9: 106,068,078 D946N probably benign Het
Crat T C 2: 30,413,182 H31R probably damaging Het
Dsc2 A G 18: 20,043,733 V419A probably damaging Het
Ebf1 T C 11: 44,972,912 V363A probably damaging Het
Gm13119 A G 4: 144,362,661 K183R probably damaging Het
Lcp2 T C 11: 34,047,424 F24S probably damaging Het
Lgmn G A 12: 102,395,714 T376I probably benign Het
Lrrc8d C T 5: 105,811,864 L47F probably benign Het
Mier1 T A 4: 103,131,062 M44K possibly damaging Het
Ogfod1 C A 8: 94,062,987 Q439K probably benign Het
Olfr303 A C 7: 86,395,078 I140S possibly damaging Het
Pcgf6 A C 19: 47,047,982 F216C probably damaging Het
Pcnt C T 10: 76,389,474 R1732K probably benign Het
Rbbp4 A T 4: 129,317,750 H370Q probably damaging Het
Reln A G 5: 21,904,731 V3127A probably damaging Het
Rttn T A 18: 89,042,231 V1019E probably damaging Het
Serpina9 C T 12: 104,008,600 R98Q probably benign Het
Slc16a7 C A 10: 125,230,798 G324V probably damaging Het
Slc22a3 A G 17: 12,459,810 L209P probably damaging Het
Tet1 T A 10: 62,813,734 T1695S probably damaging Het
Tulp3 G A 6: 128,334,485 T74M probably damaging Het
Ube3a A G 7: 59,288,396 probably benign Het
Ufl1 A T 4: 25,281,686 S23T probably benign Het
Unc80 A G 1: 66,608,428 E1509G possibly damaging Het
Wnk2 A T 13: 49,056,940 I1801N probably damaging Het
Other mutations in Agpat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0359:Agpat1 UTSW 17 34610577 missense probably benign 0.27
R7439:Agpat1 UTSW 17 34610909 missense probably damaging 1.00
R7441:Agpat1 UTSW 17 34610909 missense probably damaging 1.00
R8113:Agpat1 UTSW 17 34611612 missense probably damaging 0.98
R9229:Agpat1 UTSW 17 34611689 missense probably null 0.79
Posted On 2015-04-16