Incidental Mutation 'R6785:Mboat7'
ID 531617
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 044899-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.750) question?
Stock # R6785 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 3680788-3696188 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3688835 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 231 (L231P)
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 benign
Transcript: ENSMUST00000038608
AA Change: L231P

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: L231P

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 probably benign
Transcript: ENSMUST00000206343
Predicted Effect probably benign
Transcript: ENSMUST00000206379
Predicted Effect probably benign
Transcript: ENSMUST00000206571
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.3%
Validation Efficiency 98% (59/60)
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: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi1 A G 2: 22,843,479 (GRCm39) V316A probably benign Het
Acad12 T C 5: 121,747,908 (GRCm39) Y170C probably damaging Het
Acss2 T C 2: 155,402,605 (GRCm39) V587A probably damaging Het
Adamtsl3 A G 7: 82,171,212 (GRCm39) I422V probably damaging Het
Aldh18a1 A G 19: 40,556,788 (GRCm39) L375P probably damaging Het
B020011L13Rik A G 1: 117,728,799 (GRCm39) D102G possibly damaging Het
Cfap74 T A 4: 155,538,481 (GRCm39) probably benign Het
Coa4 G A 7: 100,188,460 (GRCm39) V58M probably damaging Het
Crybg1 T C 10: 43,875,167 (GRCm39) N647S probably benign Het
Dync1h1 G A 12: 110,596,113 (GRCm39) G1547S probably damaging Het
Espnl A G 1: 91,249,943 (GRCm39) D30G probably benign Het
Fasl T A 1: 161,609,404 (GRCm39) Y194F probably benign Het
Fbxw8 T C 5: 118,230,754 (GRCm39) E349G probably damaging Het
Gen1 A G 12: 11,312,531 (GRCm39) V13A possibly damaging Het
Gm4559 A G 7: 141,827,845 (GRCm39) C86R unknown Het
H2-M9 T C 17: 36,953,125 (GRCm39) N61D probably damaging Het
H6pd C T 4: 150,067,247 (GRCm39) E380K possibly damaging Het
Herc1 TCCC TCC 9: 66,408,470 (GRCm39) probably null Het
Hnrnpd C A 5: 100,126,283 (GRCm39) K67N probably benign Het
Hspg2 T C 4: 137,235,709 (GRCm39) S170P probably damaging Het
Igsf10 G T 3: 59,226,665 (GRCm39) P2336Q probably damaging Het
Itih3 C T 14: 30,634,572 (GRCm39) probably null Het
Katnb1 T C 8: 95,822,270 (GRCm39) Y298H probably benign Het
Kif21a A T 15: 90,819,933 (GRCm39) N1610K probably damaging Het
Lce1l A T 3: 92,757,500 (GRCm39) C119* probably null Het
Lcn2 C T 2: 32,277,039 (GRCm39) probably null Het
Lmf2 A T 15: 89,236,236 (GRCm39) S588T probably benign Het
Mier2 T C 10: 79,380,547 (GRCm39) R288G probably damaging Het
Mybbp1a T C 11: 72,338,392 (GRCm39) V694A probably benign Het
Ndnf C A 6: 65,680,047 (GRCm39) L109I probably benign Het
Nfkb1 C A 3: 135,321,064 (GRCm39) E230D probably benign Het
Nostrin A G 2: 69,014,271 (GRCm39) K409R probably benign Het
Or1j10 A G 2: 36,266,854 (GRCm39) Q22R probably benign Het
Or1j10 C A 2: 36,266,963 (GRCm39) Y58* probably null Het
Or8k35 T A 2: 86,424,765 (GRCm39) M136L probably damaging Het
Pdpr C A 8: 111,851,243 (GRCm39) T534N probably benign Het
Plekhf1 G A 7: 37,921,488 (GRCm39) Q27* probably null Het
Ppp6c A T 2: 39,087,593 (GRCm39) H204Q probably benign Het
Prrc2c T C 1: 162,536,670 (GRCm39) probably benign Het
Prrg2 A G 7: 44,709,649 (GRCm39) F83L probably damaging Het
Rab11fip3 T G 17: 26,210,692 (GRCm39) D938A probably damaging Het
Rai1 A G 11: 60,079,620 (GRCm39) N1228S probably benign Het
Ryr1 G T 7: 28,764,299 (GRCm39) T3060K probably benign Het
Scube2 A G 7: 109,409,824 (GRCm39) I557T probably benign Het
Setdb1 C A 3: 95,233,712 (GRCm39) R1066L probably benign Het
Shoc1 T C 4: 59,049,066 (GRCm39) M1100V probably benign Het
Slc35f3 T C 8: 127,121,198 (GRCm39) V353A probably benign Het
Slfn3 A T 11: 83,105,427 (GRCm39) T475S possibly damaging Het
Snrnp200 T A 2: 127,071,085 (GRCm39) M1122K possibly damaging Het
Tead4 T A 6: 128,219,444 (GRCm39) K223* probably null Het
Tex2 A C 11: 106,424,776 (GRCm39) I334R probably damaging Het
Tfdp1 C T 8: 13,420,485 (GRCm39) R105W probably damaging Het
Tfdp1 G T 8: 13,427,233 (GRCm39) V393F possibly damaging Het
Thsd7b T C 1: 129,358,644 (GRCm39) L26P probably damaging Het
Trim80 T C 11: 115,332,027 (GRCm39) I73T probably damaging Het
Tssk4 T A 14: 55,887,932 (GRCm39) Y43N probably damaging Het
Ttn T C 2: 76,541,839 (GRCm39) T25389A probably damaging Het
Ttn A T 2: 76,578,288 (GRCm39) F24202I probably damaging Het
Vmn1r177 A G 7: 23,565,562 (GRCm39) S105P probably damaging Het
Vmn2r40 T A 7: 8,911,203 (GRCm39) T697S probably benign Het
Zfp267 T A 3: 36,219,601 (GRCm39) C541* probably null 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
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
RF013:Mboat7 UTSW 7 3,694,856 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ATAGTTTCCCTAGTGGCCAGG -3'
(R):5'- TACCGCACCTACCTGGATTG -3'

Sequencing Primer
(F):5'- ACTGCTGGTAGCCCTACAC -3'
(R):5'- ACCTACCTGGATTGGCTGGAAC -3'
Posted On 2018-08-29