Incidental Mutation 'IGL01331:Mboat1'
ID74530
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mboat1
Ensembl Gene ENSMUSG00000038732
Gene Namemembrane bound O-acyltransferase domain containing 1
Synonyms9130215M02Rik, Oact1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01331
Quality Score
Status
Chromosome13
Chromosomal Location30136489-30246717 bp(+) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 30219701 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000045441 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000047311]
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: 144,747,512 T517M probably damaging Het
Clec4g T C 8: 3,717,190 probably benign Het
Cmya5 C T 13: 93,096,946 E545K possibly damaging Het
Cntn6 A T 6: 104,774,523 D380V probably damaging Het
Col9a2 C T 4: 121,045,192 P209S possibly damaging Het
Cyp2b9 T C 7: 26,187,715 V183A probably damaging Het
Dpt T C 1: 164,796,810 Y27H unknown Het
Dusp16 T C 6: 134,718,104 Q588R possibly damaging Het
Dusp27 C A 1: 166,108,180 V150L probably damaging Het
Emg1 A G 6: 124,705,070 S164P probably benign Het
Foxk1 G A 5: 142,453,589 R428Q probably damaging Het
Frmd4a T A 2: 4,602,225 M667K probably benign Het
Gpr55 T A 1: 85,941,193 probably benign Het
Gtpbp8 A G 16: 44,740,131 I162T probably benign Het
Ighv1-59 C T 12: 115,335,372 V21I possibly damaging Het
Ipo11 T A 13: 106,795,746 Y938F possibly damaging Het
Map4 G T 9: 110,034,801 V365L probably benign Het
Med12 A G X: 101,280,754 E649G possibly damaging Het
Nfkbie T C 17: 45,558,569 V150A probably benign Het
Olfr1054 A C 2: 86,332,704 Y217* probably null Het
Olfr632 A G 7: 103,937,575 Y65C possibly damaging Het
Prdm1 T A 10: 44,441,974 K299N possibly damaging Het
Ribc1 T C X: 152,005,106 T291A probably benign Het
Rps6kc1 G T 1: 190,800,352 N484K possibly damaging Het
Serpina3k C A 12: 104,343,110 A271D probably benign Het
Spata18 G T 5: 73,669,681 R321L probably damaging Het
Syne2 C A 12: 75,929,253 probably benign Het
Syt17 T A 7: 118,408,166 I302F probably damaging Het
Tgm6 A G 2: 130,143,618 probably null Het
Tmc2 A G 2: 130,232,356 Y323C probably damaging Het
Tnc T C 4: 63,982,875 D1452G probably damaging Het
Ttn A G 2: 76,789,678 I7555T probably damaging Het
Ugt2b36 A T 5: 87,090,942 W131R probably damaging Het
Vmn2r75 A T 7: 86,171,662 C21* probably null Het
Zfp592 T A 7: 81,041,548 C1158* probably null Het
Other mutations in Mboat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00423:Mboat1 APN 13 30195793 splice site probably benign
IGL01837:Mboat1 APN 13 30241183 missense possibly damaging 0.72
IGL02070:Mboat1 APN 13 30224397 missense probably benign 0.02
IGL03338:Mboat1 APN 13 30136759 missense probably benign 0.01
langsat UTSW 13 30202375 missense probably benign 0.37
R0201:Mboat1 UTSW 13 30202375 missense probably benign 0.37
R0322:Mboat1 UTSW 13 30232080 splice site probably benign
R0448:Mboat1 UTSW 13 30202410 missense probably damaging 1.00
R1793:Mboat1 UTSW 13 30219650 missense probably damaging 0.99
R2040:Mboat1 UTSW 13 30241317 critical splice donor site probably null
R3054:Mboat1 UTSW 13 30195741 missense probably benign
R3122:Mboat1 UTSW 13 30238048 missense probably damaging 1.00
R4948:Mboat1 UTSW 13 30241230 missense probably damaging 1.00
R4958:Mboat1 UTSW 13 30224393 missense probably damaging 1.00
R4992:Mboat1 UTSW 13 30202360 missense possibly damaging 0.80
R5429:Mboat1 UTSW 13 30219667 missense probably benign 0.02
R5862:Mboat1 UTSW 13 30235697 missense probably damaging 1.00
R6025:Mboat1 UTSW 13 30224526 missense probably benign
R6352:Mboat1 UTSW 13 30202420 missense possibly damaging 0.59
R6956:Mboat1 UTSW 13 30238076 missense possibly damaging 0.89
R7088:Mboat1 UTSW 13 30195789 critical splice donor site probably null
R7165:Mboat1 UTSW 13 30224415 missense probably damaging 1.00
R7366:Mboat1 UTSW 13 30202362 missense possibly damaging 0.94
R7727:Mboat1 UTSW 13 30226306 missense probably benign 0.00
R8239:Mboat1 UTSW 13 30245350 missense probably damaging 1.00
Z1177:Mboat1 UTSW 13 30226378 missense probably benign 0.00
Posted On2013-10-07