Incidental Mutation 'IGL02621:Agpat3'
ID300858
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Agpat3
Ensembl Gene ENSMUSG00000001211
Gene Name1-acylglycerol-3-phosphate O-acyltransferase 3
SynonymsD10Jhu12e, LPAAT3
Accession Numbers

NCBI RefSeq: NM_053014.3; MGI: 1336186

Is this an essential gene? Probably non essential (E-score: 0.160) question?
Stock #IGL02621
Quality Score
Status
Chromosome10
Chromosomal Location78269178-78352489 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 78285066 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 93 (I93F)
Ref Sequence ENSEMBL: ENSMUSP00000132954 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000001240] [ENSMUST00000105387] [ENSMUST00000105388] [ENSMUST00000105389] [ENSMUST00000105390] [ENSMUST00000138035] [ENSMUST00000139282] [ENSMUST00000146899] [ENSMUST00000150828] [ENSMUST00000166360] [ENSMUST00000219932]
Predicted Effect probably damaging
Transcript: ENSMUST00000001240
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000001240
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105387
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101026
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105388
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101027
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105389
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101028
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000105390
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000101029
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
transmembrane domain 308 330 N/A INTRINSIC
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000138035
SMART Domains Protein: ENSMUSP00000121052
Gene: ENSMUSG00000001211

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000139282
AA Change: I93F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119713
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Pfam:Acyltransferase 72 144 3.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000146899
SMART Domains Protein: ENSMUSP00000114657
Gene: ENSMUSG00000001211

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000150828
AA Change: I93F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114885
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Blast:PlsC 90 129 5e-20 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000166360
AA Change: I93F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000132954
Gene: ENSMUSG00000001211
AA Change: I93F

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
PlsC 90 212 3.14e-21 SMART
Pfam:Acyltransf_C 241 314 2.1e-29 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219907
Predicted Effect unknown
Transcript: ENSMUST00000219932
AA Change: L73F
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an acyltransferase that converts lysophosphatidic acid into phosphatidic acid, which is the second step in the de novo phospholipid biosynthetic pathway. The encoded protein may be an integral membrane protein. Two transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit male infertility with oligozoospermia, teratozoospermia. [provided by MGI curators]
Allele List at MGI

All alleles(14) : Targeted(2) Gene trapped(12)

Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002L01Rik C A 12: 3,426,688 probably benign Het
2210408I21Rik T C 13: 77,260,031 I159T possibly damaging Het
4932438A13Rik T A 3: 37,041,484 probably benign Het
AI481877 A T 4: 59,062,668 W863R probably damaging Het
Armc8 T C 9: 99,527,069 probably benign Het
Atr G A 9: 95,908,400 A1598T probably benign Het
Clk1 T C 1: 58,414,455 D324G probably damaging Het
Cntnap4 A T 8: 112,810,723 D742V probably damaging Het
Esrrb A G 12: 86,421,961 N16S probably benign Het
Grm1 A T 10: 10,689,011 Y1184* probably null Het
Hint1 G T 11: 54,870,185 probably benign Het
Itch A T 2: 155,172,584 probably null Het
Lmod3 T C 6: 97,238,835 probably benign Het
Map3k4 C A 17: 12,264,013 A606S probably damaging Het
Mapk4 A T 18: 73,970,275 S54R probably damaging Het
Megf11 A G 9: 64,693,932 D807G probably benign Het
Mgat5 A G 1: 127,397,589 T398A possibly damaging Het
Nme8 T G 13: 19,675,648 K28N probably damaging Het
Pamr1 A G 2: 102,634,343 N279S probably benign Het
Pcca A T 14: 122,684,979 D384V probably damaging Het
Prkag1 A T 15: 98,814,028 I239N probably damaging Het
Psme4 A G 11: 30,848,131 T1375A probably benign Het
Ptk2 A C 15: 73,206,145 L1024R probably damaging Het
Rere G A 4: 150,613,812 probably benign Het
Scn2a A G 2: 65,748,879 probably benign Het
Sema5a T A 15: 32,538,656 probably benign Het
Slc9a1 T A 4: 133,370,568 W9R probably benign Het
Slco1a5 T A 6: 142,242,015 M533L probably benign Het
Ttll4 T A 1: 74,687,484 S720T probably damaging Het
Vmn1r168 A T 7: 23,541,355 R212S probably damaging Het
Vmn2r114 T C 17: 23,310,520 I203V probably damaging Het
Wdr38 A T 2: 38,998,412 N7I probably damaging Het
Other mutations in Agpat3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00557:Agpat3 APN 10 78273682 utr 3 prime probably benign
IGL02725:Agpat3 APN 10 78278055 missense probably benign 0.02
P0008:Agpat3 UTSW 10 78287876 missense probably damaging 1.00
PIT4445001:Agpat3 UTSW 10 78274093 missense possibly damaging 0.94
R0041:Agpat3 UTSW 10 78288047 unclassified probably benign
R0126:Agpat3 UTSW 10 78278056 missense probably null 0.59
R0226:Agpat3 UTSW 10 78278029 missense possibly damaging 0.89
R1520:Agpat3 UTSW 10 78288023 start codon destroyed probably null 1.00
R2118:Agpat3 UTSW 10 78278084 missense probably damaging 1.00
R5493:Agpat3 UTSW 10 78284235 missense possibly damaging 0.89
R5599:Agpat3 UTSW 10 78274269 missense probably benign 0.39
R6280:Agpat3 UTSW 10 78285038 missense probably damaging 1.00
R7528:Agpat3 UTSW 10 78287912 missense probably damaging 1.00
R7895:Agpat3 UTSW 10 78283200 missense probably benign 0.34
R8351:Agpat3 UTSW 10 78274252 missense probably damaging 1.00
R8425:Agpat3 UTSW 10 78282377 missense possibly damaging 0.89
X0003:Agpat3 UTSW 10 78274173 nonsense probably null
Posted On2015-04-16