Incidental Mutation 'R0013:Mboat7'
ID 19108
Institutional Source Beutler Lab
Gene Symbol Mboat7
Ensembl Gene ENSMUSG00000035596
Gene Name membrane bound O-acyltransferase domain containing 7
Synonyms Lpiat1, 5730589L02Rik, mBB1, Leng4
MMRRC Submission 038308-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.750) question?
Stock # R0013 (G1)
Quality Score
Status Validated
Chromosome 7
Chromosomal Location 3680788-3696188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3686821 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 340 (S340P)
Ref Sequence ENSEMBL: ENSMUSP00000037107 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038608] [ENSMUST00000118710] [ENSMUST00000127106] [ENSMUST00000128364] [ENSMUST00000206343] [ENSMUST00000206379] [ENSMUST00000206571]
AlphaFold Q8CHK3
Predicted Effect probably damaging
Transcript: ENSMUST00000038608
AA Change: S340P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: S340P

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:MBOAT 57 420 2.4e-37 PFAM
transmembrane domain 425 447 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118710
SMART Domains Protein: ENSMUSP00000112710
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
transmembrane domain 35 57 N/A INTRINSIC
Pfam:MBOAT 86 343 1.5e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127106
SMART Domains Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128364
SMART Domains Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 32 46 N/A INTRINSIC
low complexity region 58 67 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133223
Predicted Effect probably benign
Transcript: ENSMUST00000206343
Predicted Effect probably benign
Transcript: ENSMUST00000206379
Predicted Effect probably benign
Transcript: ENSMUST00000206571
Meta Mutation Damage Score 0.4157 question?
Coding Region Coverage
  • 1x: 79.5%
  • 3x: 71.1%
  • 10x: 47.6%
  • 20x: 27.2%
Validation Efficiency 94% (77/82)
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 membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit hydrocephaly and most die between 1-3 months of age. Mice homozygous for a knock-out allele exhibit partial lethality with decreased body size, decreased forebrain size, delayed neuronal migrationand reduced neurite outgrowth. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adnp2 A T 18: 80,172,960 (GRCm39) V483D probably damaging Het
Agl A T 3: 116,570,257 (GRCm39) C911* probably null Het
Arap2 G A 5: 62,840,827 (GRCm39) L680F probably damaging Het
C2cd3 T A 7: 100,065,269 (GRCm39) L685H probably damaging Het
Dhx33 A T 11: 70,884,461 (GRCm39) F448L probably damaging Het
Dnmbp G A 19: 43,890,670 (GRCm39) P366S probably benign Het
Elmod1 G A 9: 53,820,185 (GRCm39) probably benign Het
Galnt18 T C 7: 111,153,664 (GRCm39) N320S probably damaging Het
Glp2r C A 11: 67,600,538 (GRCm39) G437V possibly damaging Het
Gm9936 A G 5: 114,995,408 (GRCm39) probably benign Het
Helz2 C A 2: 180,874,552 (GRCm39) G1981C probably damaging Het
Ints11 T C 4: 155,971,625 (GRCm39) F315S probably damaging Het
Itga11 A T 9: 62,683,895 (GRCm39) N1059Y possibly damaging Het
Kdm5d A T Y: 941,715 (GRCm39) K1305N probably benign Homo
Mex3c G A 18: 73,723,622 (GRCm39) A572T probably benign Het
Myo9a A T 9: 59,767,489 (GRCm39) probably benign Het
Myog T A 1: 134,217,973 (GRCm39) H60Q probably damaging Het
Pgm5 A C 19: 24,710,904 (GRCm39) probably null Het
Plb1 T A 5: 32,506,959 (GRCm39) probably benign Het
Ppm1e A G 11: 87,139,884 (GRCm39) probably benign Het
Prss46 G T 9: 110,679,123 (GRCm39) S108I probably damaging Het
Ptma C T 1: 86,457,498 (GRCm39) probably benign Het
Ptprc T C 1: 138,041,297 (GRCm39) probably null Het
Rrn3 T A 16: 13,630,977 (GRCm39) D604E possibly damaging Het
Scn4a A G 11: 106,239,231 (GRCm39) probably benign Het
Sis A G 3: 72,817,809 (GRCm39) L1468P possibly damaging Het
Slit3 A G 11: 35,598,745 (GRCm39) M1450V probably benign Het
Tppp A G 13: 74,169,479 (GRCm39) K73R possibly damaging Het
Tut4 T A 4: 108,388,152 (GRCm39) probably benign Het
Uba7 A T 9: 107,855,448 (GRCm39) Y375F probably damaging Het
Ugcg T C 4: 59,213,931 (GRCm39) L171P possibly damaging Het
Vsig2 T C 9: 37,453,872 (GRCm39) probably benign Het
Zfp839 T A 12: 110,834,820 (GRCm39) S692T possibly damaging Het
Other mutations in Mboat7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02234:Mboat7 APN 7 3,694,350 (GRCm39) missense probably damaging 1.00
IGL02550:Mboat7 APN 7 3,686,905 (GRCm39) splice site probably null
R0013:Mboat7 UTSW 7 3,686,821 (GRCm39) missense probably damaging 1.00
R0046:Mboat7 UTSW 7 3,686,817 (GRCm39) missense probably damaging 1.00
R0046:Mboat7 UTSW 7 3,686,817 (GRCm39) missense probably damaging 1.00
R1649:Mboat7 UTSW 7 3,688,817 (GRCm39) missense probably benign 0.06
R2036:Mboat7 UTSW 7 3,688,671 (GRCm39) critical splice donor site probably null
R2091:Mboat7 UTSW 7 3,687,010 (GRCm39) unclassified probably benign
R3031:Mboat7 UTSW 7 3,681,687 (GRCm39) missense probably benign
R4200:Mboat7 UTSW 7 3,688,752 (GRCm39) missense possibly damaging 0.56
R4382:Mboat7 UTSW 7 3,691,545 (GRCm39) missense possibly damaging 0.53
R5407:Mboat7 UTSW 7 3,694,380 (GRCm39) missense probably damaging 1.00
R6181:Mboat7 UTSW 7 3,686,884 (GRCm39) missense probably benign 0.44
R6785:Mboat7 UTSW 7 3,688,835 (GRCm39) missense probably benign 0.42
RF013:Mboat7 UTSW 7 3,694,856 (GRCm39) missense probably damaging 1.00
Posted On 2013-03-25