Incidental Mutation 'R0322:Mboat1'
ID 25628
Institutional Source Beutler Lab
Gene Symbol Mboat1
Ensembl Gene ENSMUSG00000038732
Gene Name membrane bound O-acyltransferase domain containing 1
Synonyms 9130215M02Rik, Oact1
MMRRC Submission 038532-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0322 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 30320499-30430677 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 30416063 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047311]
AlphaFold Q8BH98
Predicted Effect probably benign
Transcript: ENSMUST00000047311
SMART Domains Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732

DomainStartEndE-ValueType
Pfam:MBOAT 36 438 4.8e-29 PFAM
transmembrane domain 455 472 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152798
SMART Domains Protein: ENSMUSP00000121195
Gene: ENSMUSG00000038732

DomainStartEndE-ValueType
Pfam:MBOAT 9 209 1.3e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000222095
Coding Region Coverage
  • 1x: 98.7%
  • 3x: 97.5%
  • 10x: 93.8%
  • 20x: 84.3%
Validation Efficiency 98% (58/59)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130401M01Rik A T 15: 57,888,768 (GRCm39) S275T possibly damaging Het
Adam34 G T 8: 44,104,958 (GRCm39) T229N probably benign Het
Adgrb3 C A 1: 25,260,829 (GRCm39) probably benign Het
Ankhd1 T A 18: 36,791,061 (GRCm39) Y2478* probably null Het
Arl9 A G 5: 77,155,037 (GRCm39) probably benign Het
Bub1b G A 2: 118,470,099 (GRCm39) probably benign Het
Chl1 A T 6: 103,678,844 (GRCm39) probably benign Het
Cobl T A 11: 12,217,072 (GRCm39) E465V probably damaging Het
Cobll1 A T 2: 64,932,442 (GRCm39) M520K possibly damaging Het
Dll3 A G 7: 27,995,793 (GRCm39) V336A possibly damaging Het
Dnmbp T C 19: 43,843,285 (GRCm39) H1193R probably damaging Het
Fbxo43 T C 15: 36,152,338 (GRCm39) probably benign Het
Gart G A 16: 91,419,925 (GRCm39) probably benign Het
Gjc3 A T 5: 137,955,760 (GRCm39) M175K possibly damaging Het
Gpc5 T A 14: 115,636,563 (GRCm39) N415K probably benign Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Il7r A T 15: 9,510,301 (GRCm39) F251I probably benign Het
Insc A G 7: 114,391,500 (GRCm39) E141G probably damaging Het
Itm2c C T 1: 85,834,751 (GRCm39) T160M probably damaging Het
Mdm2 G T 10: 117,538,109 (GRCm39) H96Q possibly damaging Het
Mettl13 A G 1: 162,371,745 (GRCm39) probably benign Het
Mfsd4b3-ps T C 10: 39,823,526 (GRCm39) N245D probably damaging Het
Mroh2a C T 1: 88,158,402 (GRCm39) R150* probably null Het
Mtmr3 T C 11: 4,437,505 (GRCm39) Y982C possibly damaging Het
Mymk A T 2: 26,957,418 (GRCm39) L66Q probably damaging Het
Myo18a T C 11: 77,720,626 (GRCm39) S767P probably damaging Het
Ndufa8 T C 2: 35,926,634 (GRCm39) D134G probably benign Het
Noxa1 A G 2: 24,982,566 (GRCm39) F83S probably damaging Het
Npc1l1 T A 11: 6,179,042 (GRCm39) I123L probably benign Het
Ogdhl A G 14: 32,059,534 (GRCm39) T394A probably benign Het
Or4s2b T C 2: 88,509,011 (GRCm39) S264P probably damaging Het
Or5ae1 A G 7: 84,565,521 (GRCm39) Y178C probably damaging Het
Pcdh20 T C 14: 88,706,383 (GRCm39) T306A probably benign Het
Pcid2 G A 8: 13,140,775 (GRCm39) probably benign Het
Phyhip G A 14: 70,700,836 (GRCm39) V108M possibly damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Psmb4 A G 3: 94,793,402 (GRCm39) Y160H probably benign Het
Riox2 A T 16: 59,309,752 (GRCm39) K369* probably null Het
Rnf26rt T C 6: 76,473,401 (GRCm39) Y405C probably benign Het
Sh3tc1 G A 5: 35,863,905 (GRCm39) P761S possibly damaging Het
Slc6a3 T A 13: 73,709,045 (GRCm39) V323D possibly damaging Het
Smg7 A G 1: 152,725,624 (GRCm39) probably null Het
Srrt G A 5: 137,294,870 (GRCm39) R370C probably damaging Het
Stc1 T C 14: 69,266,858 (GRCm39) V7A probably benign Het
Svep1 G T 4: 58,057,996 (GRCm39) probably benign Het
Tbpl2 A G 2: 23,984,991 (GRCm39) V51A probably benign Het
Tecr A G 8: 84,298,872 (GRCm39) Y248H probably damaging Het
Tenm3 A G 8: 48,689,947 (GRCm39) probably benign Het
Tia1 C T 6: 86,397,369 (GRCm39) A114V probably damaging Het
Tmprss11f A T 5: 86,739,275 (GRCm39) M2K probably benign Het
Tnfsf8 T C 4: 63,752,403 (GRCm39) T221A probably damaging Het
Tubgcp5 G A 7: 55,464,726 (GRCm39) G536S probably damaging Het
Tyr A T 7: 87,142,125 (GRCm39) I145N probably benign Het
Ubr4 T A 4: 139,149,729 (GRCm39) V1809E probably damaging Het
Vmn2r65 A T 7: 84,595,756 (GRCm39) N309K probably benign Het
Other mutations in Mboat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Mboat1 APN 13 30,379,776 (GRCm39) splice site probably benign
IGL01331:Mboat1 APN 13 30,403,684 (GRCm39) splice site probably benign
IGL01837:Mboat1 APN 13 30,425,166 (GRCm39) missense possibly damaging 0.72
IGL02070:Mboat1 APN 13 30,408,380 (GRCm39) missense probably benign 0.02
IGL03338:Mboat1 APN 13 30,320,742 (GRCm39) missense probably benign 0.01
langsat UTSW 13 30,386,358 (GRCm39) missense probably benign 0.37
R0201:Mboat1 UTSW 13 30,386,358 (GRCm39) missense probably benign 0.37
R0448:Mboat1 UTSW 13 30,386,393 (GRCm39) missense probably damaging 1.00
R1793:Mboat1 UTSW 13 30,403,633 (GRCm39) missense probably damaging 0.99
R2040:Mboat1 UTSW 13 30,425,300 (GRCm39) critical splice donor site probably null
R3054:Mboat1 UTSW 13 30,379,724 (GRCm39) missense probably benign
R3122:Mboat1 UTSW 13 30,422,031 (GRCm39) missense probably damaging 1.00
R4948:Mboat1 UTSW 13 30,425,213 (GRCm39) missense probably damaging 1.00
R4958:Mboat1 UTSW 13 30,408,376 (GRCm39) missense probably damaging 1.00
R4992:Mboat1 UTSW 13 30,386,343 (GRCm39) missense possibly damaging 0.80
R5429:Mboat1 UTSW 13 30,403,650 (GRCm39) missense probably benign 0.02
R5862:Mboat1 UTSW 13 30,419,680 (GRCm39) missense probably damaging 1.00
R6025:Mboat1 UTSW 13 30,408,509 (GRCm39) missense probably benign
R6352:Mboat1 UTSW 13 30,386,403 (GRCm39) missense possibly damaging 0.59
R6956:Mboat1 UTSW 13 30,422,059 (GRCm39) missense possibly damaging 0.89
R7088:Mboat1 UTSW 13 30,379,772 (GRCm39) critical splice donor site probably null
R7165:Mboat1 UTSW 13 30,408,398 (GRCm39) missense probably damaging 1.00
R7366:Mboat1 UTSW 13 30,386,345 (GRCm39) missense possibly damaging 0.94
R7727:Mboat1 UTSW 13 30,410,289 (GRCm39) missense probably benign 0.00
R7938:Mboat1 UTSW 13 30,415,959 (GRCm39) missense possibly damaging 0.53
R8239:Mboat1 UTSW 13 30,429,333 (GRCm39) missense probably damaging 1.00
R8872:Mboat1 UTSW 13 30,410,397 (GRCm39) missense probably damaging 1.00
R9248:Mboat1 UTSW 13 30,410,392 (GRCm39) missense probably damaging 1.00
Z1177:Mboat1 UTSW 13 30,410,361 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CAGCCGAGTTCATAATGAGGCCAG -3'
(R):5'- TCCAGGTCAAGTGCAAACATGAGG -3'

Sequencing Primer
(F):5'- ATAATGAGGCCAGATCCTCTGTC -3'
(R):5'- CCACTTTCTAGTTGGTAGAACAAGG -3'
Posted On 2013-04-16