Incidental Mutation 'R6352:Mboat1'
ID 513300
Institutional Source Beutler Lab
Gene Symbol Mboat1
Ensembl Gene ENSMUSG00000038732
Gene Name membrane bound O-acyltransferase domain containing 1
Synonyms 9130215M02Rik, Oact1
MMRRC Submission 044504-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6352 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 30320499-30430677 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 30386403 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Glutamic Acid at position 139 (G139E)
Ref Sequence ENSEMBL: ENSMUSP00000045441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047311]
AlphaFold Q8BH98
Predicted Effect possibly damaging
Transcript: ENSMUST00000047311
AA Change: G139E

PolyPhen 2 Score 0.593 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: G139E

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: ENSMUST00000220870
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.3%
  • 20x: 95.2%
Validation Efficiency 96% (48/50)
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700122O11Rik T C 17: 48,347,945 (GRCm39) S120G probably benign Het
Abca13 G A 11: 9,259,139 (GRCm39) probably null Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Adgra3 T A 5: 50,136,478 (GRCm39) D669V probably benign Het
Adgra3 T A 5: 50,147,592 (GRCm39) M483L probably benign Het
Ccdc42 T C 11: 68,485,191 (GRCm39) V88A probably damaging Het
Cdh16 G C 8: 105,343,624 (GRCm39) S624C probably damaging Het
Cpt1c A T 7: 44,616,219 (GRCm39) probably null Het
Cul9 T C 17: 46,822,241 (GRCm39) T1795A probably benign Het
Dnah2 C T 11: 69,339,053 (GRCm39) V3098I probably damaging Het
Fbxl16 T C 17: 26,037,919 (GRCm39) L426P probably damaging Het
Flt4 T C 11: 49,534,333 (GRCm39) I1168T probably benign Het
Fmo5 T C 3: 97,552,991 (GRCm39) V313A probably benign Het
Foxj3 A G 4: 119,442,975 (GRCm39) N133S probably damaging Het
Gbp8 T C 5: 105,162,926 (GRCm39) I489M possibly damaging Het
Gm10801 TC TCGAC 2: 98,494,151 (GRCm39) probably benign Het
Hdgfl1 T G 13: 26,953,733 (GRCm39) E113D probably benign Het
Heatr5a A T 12: 51,997,949 (GRCm39) S317T possibly damaging Het
Hycc2 A G 1: 58,596,471 (GRCm39) V38A probably damaging Het
Insr C T 8: 3,223,479 (GRCm39) probably null Het
Iqcf5 A G 9: 106,392,929 (GRCm39) E62G possibly damaging Het
Kcnj3 G A 2: 55,327,561 (GRCm39) V117I probably benign Het
Klf9 T A 19: 23,119,138 (GRCm39) M7K probably benign Het
Mical3 T C 6: 120,929,434 (GRCm39) T1811A probably damaging Het
Mllt10 A C 2: 18,128,604 (GRCm39) K117T probably damaging Het
Mpped1 A G 15: 83,720,564 (GRCm39) D8G probably damaging Het
Myh4 A T 11: 67,143,108 (GRCm39) D1012V probably damaging Het
Myo9b C A 8: 71,801,054 (GRCm39) P1070T probably benign Het
Myo9b C T 8: 71,801,055 (GRCm39) P1071L probably benign Het
Nlrp1b T A 11: 71,072,527 (GRCm39) I439F probably damaging Het
Nlrp9a T A 7: 26,257,051 (GRCm39) I134N probably damaging Het
Nop2 C T 6: 125,114,170 (GRCm39) T212M probably benign Het
Notch4 T C 17: 34,786,435 (GRCm39) C188R probably damaging Het
Or10q12 A T 19: 13,745,828 (GRCm39) M41L probably benign Het
Or2ag19 G T 7: 106,444,429 (GRCm39) V204F probably damaging Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Plet1 T C 9: 50,412,407 (GRCm39) S142P probably damaging Het
Ptk7 A T 17: 46,887,816 (GRCm39) W539R probably benign Het
Ptprd A T 4: 76,009,789 (GRCm39) probably null Het
Rgs22 T G 15: 36,093,067 (GRCm39) Q402P probably damaging Het
Rpl10a T C 17: 28,549,820 (GRCm39) V167A possibly damaging Het
Sdr16c5 A G 4: 4,016,421 (GRCm39) S2P probably benign Het
Slc14a2 T C 18: 78,252,309 (GRCm39) M1V probably null Het
Spta1 T A 1: 174,039,212 (GRCm39) M1185K possibly damaging Het
Syde2 G T 3: 145,704,229 (GRCm39) E127* probably null Het
Thoc2l A G 5: 104,668,064 (GRCm39) E862G probably benign Het
Ugt2b38 T A 5: 87,571,860 (GRCm39) R57S possibly damaging Het
Wdr11 C T 7: 129,208,399 (GRCm39) L385F possibly damaging Het
Wdr74 T C 19: 8,716,822 (GRCm39) V200A possibly damaging 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
R0322:Mboat1 UTSW 13 30,416,063 (GRCm39) splice site probably benign
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
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'- GGCTGGACCACTCAAAACTTTG -3'
(R):5'- GTGGCCTCCTTATGATTGTACAG -3'

Sequencing Primer
(F):5'- TGGACCACTCAAAACTTTGTGAACAG -3'
(R):5'- CCTCCTTATGATTGTACAGAGTTAAC -3'
Posted On 2018-04-27