Incidental Mutation 'R5817:Agpat4'
ID449132
Institutional Source Beutler Lab
Gene Symbol Agpat4
Ensembl Gene ENSMUSG00000023827
Gene Name1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta)
Synonyms
MMRRC Submission 043397-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R5817 (G1)
Quality Score206
Status Validated
Chromosome17
Chromosomal Location12118704-12219645 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) C to T at 12215210 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000127417 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024594] [ENSMUST00000164143] [ENSMUST00000167792] [ENSMUST00000170858]
Predicted Effect probably benign
Transcript: ENSMUST00000024594
SMART Domains Protein: ENSMUSP00000024594
Gene: ENSMUSG00000023827

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 212 6.58e-24 SMART
Pfam:Acyltransf_C 241 314 8.8e-29 PFAM
transmembrane domain 335 357 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164143
SMART Domains Protein: ENSMUSP00000128085
Gene: ENSMUSG00000023827

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 192 1.87e-14 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167792
SMART Domains Protein: ENSMUSP00000127477
Gene: ENSMUSG00000023827

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
PlsC 90 166 1.14e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000167905
Predicted Effect probably benign
Transcript: ENSMUST00000170858
SMART Domains Protein: ENSMUSP00000127417
Gene: ENSMUSG00000023827

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.8%
Validation Efficiency 100% (71/71)
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 1-acylglycerol-3-phosphate O-acyltransferase family. This integral membrane protein converts lysophosphatidic acid to phosphatidic acid, the second step in de novo phospholipid biosynthesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted null mutation exhibit changes in brain phospholipid content. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 A G 4: 144,622,927 I251M probably benign Het
Abcf3 T C 16: 20,549,083 V63A possibly damaging Het
Ahcyl2 G A 6: 29,890,721 V292M probably damaging Het
Ahnak2 A T 12: 112,774,003 F406I probably damaging Het
Aqp7 G A 4: 41,035,510 T115I probably benign Het
Arhgef5 G A 6: 43,275,104 D930N probably benign Het
Casc4 T A 2: 121,906,044 S231T probably benign Het
Cc2d2a G A 5: 43,712,418 R887Q probably damaging Het
Ceacam18 A G 7: 43,641,841 T236A probably benign Het
Chst15 A T 7: 132,269,144 Y221N probably damaging Het
Chst15 G A 7: 132,269,147 L220F probably damaging Het
Cntn2 G A 1: 132,518,748 T784I probably benign Het
D630003M21Rik A G 2: 158,196,493 L1011P probably damaging Het
Dync2h1 T A 9: 6,996,905 D3894V probably damaging Het
E330017A01Rik T C 16: 58,636,793 I89V probably benign Het
Fam13b T C 18: 34,457,797 M443V possibly damaging Het
Fam20a T A 11: 109,673,418 Q503L possibly damaging Het
Gm11677 C T 11: 111,724,711 noncoding transcript Het
Gm21319 G T 12: 87,773,431 D119E probably benign Het
Gm5454 T A 13: 103,356,632 noncoding transcript Het
Gm5581 A G 6: 131,167,169 noncoding transcript Het
Gm6619 A G 6: 131,486,437 I6V unknown Het
Gmcl1 A G 6: 86,714,248 M255T probably damaging Het
Gprc5c T A 11: 114,863,624 C42* probably null Het
Hmcn1 T A 1: 150,737,524 E1384V possibly damaging Het
Il6 A G 5: 30,018,008 I91V probably benign Het
Kmt2d A T 15: 98,862,363 S1005T unknown Het
Map1a A T 2: 121,298,910 H143L possibly damaging Het
Mical2 A T 7: 112,323,659 T624S probably benign Het
Msh3 A T 13: 92,286,000 N549K possibly damaging Het
Ncr1 T A 7: 4,340,895 I164N possibly damaging Het
Olfr1333 T G 4: 118,830,099 T115P probably damaging Het
Olfr554 A G 7: 102,640,378 N44S probably damaging Het
Olfr586 A T 7: 103,121,908 M292K possibly damaging Het
Olfr926 A G 9: 38,877,377 D67G probably damaging Het
Palmd T C 3: 116,918,623 I541M probably benign Het
Pcsk7 A T 9: 45,926,033 M552L probably benign Het
Plekhh2 A G 17: 84,571,726 E626G possibly damaging Het
Pole G A 5: 110,312,972 D1176N probably damaging Het
Polr2f T C 15: 79,151,669 I110T probably damaging Het
Pomt1 A T 2: 32,248,679 I436F probably damaging Het
Prag1 A C 8: 36,103,703 Q480P probably damaging Het
Qars C T 9: 108,510,242 probably benign Het
Ralgapa2 G A 2: 146,333,486 S1797L probably damaging Het
Rbm26 T C 14: 105,128,603 T832A probably damaging Het
Rnf169 A G 7: 99,925,769 S540P probably benign Het
Serpini1 T A 3: 75,613,324 M76K probably benign Het
Shq1 A G 6: 100,573,720 L419S probably damaging Het
Slc25a17 G A 15: 81,327,060 T225M probably damaging Het
Slc6a5 C A 7: 49,956,491 L716I probably benign Het
Smc1b A G 15: 85,067,783 V1149A probably damaging Het
Trappc1 A T 11: 69,324,234 Q26L possibly damaging Het
Trpm2 C A 10: 77,965,980 G84W probably damaging Het
Ttn G A 2: 76,742,666 T24215M probably damaging Het
Ubn2 C A 6: 38,479,153 T337K probably damaging Het
Ubr4 A G 4: 139,468,847 K1265E probably damaging Het
Vmn1r214 T G 13: 23,035,321 I328M probably damaging Het
Xcr1 C T 9: 123,855,857 C280Y possibly damaging Het
Zc3h13 A G 14: 75,328,132 E895G probably damaging Het
Other mutations in Agpat4
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0930:Agpat4 UTSW 17 12198836 missense probably damaging 1.00
R1217:Agpat4 UTSW 17 12210316 missense probably damaging 1.00
R1732:Agpat4 UTSW 17 12216728 missense probably benign 0.00
R2081:Agpat4 UTSW 17 12151884 missense possibly damaging 0.58
R4610:Agpat4 UTSW 17 12210377 splice site probably null
R4766:Agpat4 UTSW 17 12151750 unclassified probably benign
R5091:Agpat4 UTSW 17 12198812 missense probably benign
R7315:Agpat4 UTSW 17 12210298 missense probably damaging 1.00
R7762:Agpat4 UTSW 17 12210322 missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- TATGCATGGATTCTGCACCTATCAC -3'
(R):5'- ACCCATGAGAACGGCATCTC -3'

Sequencing Primer
(F):5'- GAACACGGAGCAGCACTGTC -3'
(R):5'- GAGAACGGCATCTCAAACCC -3'
Posted On2016-12-20