Incidental Mutation 'IGL01331:Mboat1'
ID 74530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mboat1
Ensembl Gene ENSMUSG00000038732
Gene Name membrane bound O-acyltransferase domain containing 1
Synonyms 9130215M02Rik, Oact1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01331
Quality Score
Status
Chromosome 13
Chromosomal Location 30320499-30430677 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 30403684 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: ENSMUST00000220870
Coding Region Coverage
Validation Efficiency
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca3a1 G A 3: 144,453,273 (GRCm39) T517M probably damaging Het
Clec4g T C 8: 3,767,190 (GRCm39) probably benign Het
Cmya5 C T 13: 93,233,454 (GRCm39) E545K possibly damaging Het
Cntn6 A T 6: 104,751,484 (GRCm39) D380V probably damaging Het
Col9a2 C T 4: 120,902,389 (GRCm39) P209S possibly damaging Het
Cyp2b9 T C 7: 25,887,140 (GRCm39) V183A probably damaging Het
Dpt T C 1: 164,624,379 (GRCm39) Y27H unknown Het
Dusp16 T C 6: 134,695,067 (GRCm39) Q588R possibly damaging Het
Emg1 A G 6: 124,682,033 (GRCm39) S164P probably benign Het
Foxk1 G A 5: 142,439,344 (GRCm39) R428Q probably damaging Het
Frmd4a T A 2: 4,607,036 (GRCm39) M667K probably benign Het
Gpr55 T A 1: 85,868,915 (GRCm39) probably benign Het
Gtpbp8 A G 16: 44,560,494 (GRCm39) I162T probably benign Het
Ighv1-59 C T 12: 115,298,992 (GRCm39) V21I possibly damaging Het
Ipo11 T A 13: 106,932,254 (GRCm39) Y938F possibly damaging Het
Map4 G T 9: 109,863,869 (GRCm39) V365L probably benign Het
Med12 A G X: 100,324,360 (GRCm39) E649G possibly damaging Het
Nfkbie T C 17: 45,869,495 (GRCm39) V150A probably benign Het
Or51ai2 A G 7: 103,586,782 (GRCm39) Y65C possibly damaging Het
Or8k22 A C 2: 86,163,048 (GRCm39) Y217* probably null Het
Prdm1 T A 10: 44,317,970 (GRCm39) K299N possibly damaging Het
Ribc1 T C X: 150,788,102 (GRCm39) T291A probably benign Het
Rps6kc1 G T 1: 190,532,549 (GRCm39) N484K possibly damaging Het
Serpina3k C A 12: 104,309,369 (GRCm39) A271D probably benign Het
Spata18 G T 5: 73,827,024 (GRCm39) R321L probably damaging Het
Styxl2 C A 1: 165,935,749 (GRCm39) V150L probably damaging Het
Syne2 C A 12: 75,976,027 (GRCm39) probably benign Het
Syt17 T A 7: 118,007,389 (GRCm39) I302F probably damaging Het
Tgm6 A G 2: 129,985,538 (GRCm39) probably null Het
Tmc2 A G 2: 130,074,276 (GRCm39) Y323C probably damaging Het
Tnc T C 4: 63,901,112 (GRCm39) D1452G probably damaging Het
Ttn A G 2: 76,620,022 (GRCm39) I7555T probably damaging Het
Ugt2b36 A T 5: 87,238,801 (GRCm39) W131R probably damaging Het
Vmn2r75 A T 7: 85,820,870 (GRCm39) C21* probably null Het
Zfp592 T A 7: 80,691,296 (GRCm39) C1158* probably null Het
Other mutations in Mboat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Mboat1 APN 13 30,379,776 (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
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
Posted On 2013-10-07