Incidental Mutation 'IGL02713:Dgat1'
ID 304640
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgat1
Ensembl Gene ENSMUSG00000022555
Gene Name diacylglycerol O-acyltransferase 1
Synonyms D15Ertd23e
Accession Numbers
Essential gene? Possibly essential (E-score: 0.604) question?
Stock # IGL02713
Quality Score
Status
Chromosome 15
Chromosomal Location 76386215-76396153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 76387734 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Leucine at position 291 (R291L)
Ref Sequence ENSEMBL: ENSMUSP00000023214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000228868] [ENSMUST00000226872] [ENSMUST00000229363] [ENSMUST00000228757] [ENSMUST00000227478] [ENSMUST00000226860] [ENSMUST00000228371]
AlphaFold Q9Z2A7
Predicted Effect probably damaging
Transcript: ENSMUST00000023214
AA Change: R291L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: R291L

DomainStartEndE-ValueType
low complexity region 2 26 N/A INTRINSIC
low complexity region 41 57 N/A INTRINSIC
transmembrane domain 137 159 N/A INTRINSIC
Pfam:MBOAT 162 485 8.4e-64 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072838
SMART Domains Protein: ENSMUSP00000072617
Gene: ENSMUSG00000022556

DomainStartEndE-ValueType
HSF 14 118 2.27e-66 SMART
Pfam:Vert_HS_TF 247 414 6e-65 PFAM
Pfam:Vert_HS_TF 412 503 1.9e-41 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159908
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160293
SMART Domains Protein: ENSMUSP00000123779
Gene: ENSMUSG00000022555

DomainStartEndE-ValueType
Pfam:MBOAT 41 201 4.3e-18 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160294
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162813
Predicted Effect probably benign
Transcript: ENSMUST00000228688
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
Predicted Effect probably benign
Transcript: ENSMUST00000226872
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231035
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect probably benign
Transcript: ENSMUST00000226238
Predicted Effect probably benign
Transcript: ENSMUST00000227478
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect probably benign
Transcript: ENSMUST00000226860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230722
Predicted Effect probably benign
Transcript: ENSMUST00000228371
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 encodes an multipass transmembrane protein that functions as a key metabolic enzyme. The encoded protein catalyzes the conversion of diacylglycerol and fatty acyl CoA to triacylglycerol. This enzyme can also transfer acyl CoA to retinol. Activity of this protein may be associated with obesity and other metabolic diseases. [provided by RefSeq, Jul 2013]
PHENOTYPE: Homozygous inactivation of this gene leads to decreased percent body fat, resistance to diet-induced obesity, altered energy, glucose and triglyceride metabolism, alopecia, hair cycle and skin defects, and a lactation failure associated with impaired mammary gland growth during pregnancy. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acan A G 7: 78,749,992 (GRCm39) T1588A possibly damaging Het
Apeh A T 9: 107,962,871 (GRCm39) L700Q probably damaging Het
Arid1b T C 17: 5,393,286 (GRCm39) I2272T probably damaging Het
Best3 T G 10: 116,860,434 (GRCm39) F565V probably benign Het
Birc6 A G 17: 74,886,319 (GRCm39) N521S probably benign Het
Cd209f T A 8: 4,153,732 (GRCm39) R191S probably benign Het
Clec4e A T 6: 123,263,263 (GRCm39) Y63* probably null Het
Cracdl C A 1: 37,663,218 (GRCm39) K893N possibly damaging Het
Cyp26c1 C T 19: 37,681,667 (GRCm39) T490M probably damaging Het
Cyp2b9 T A 7: 25,872,945 (GRCm39) H29Q probably benign Het
Cyp2d10 A C 15: 82,290,283 (GRCm39) probably benign Het
Dyrk1a C A 16: 94,486,204 (GRCm39) probably benign Het
Esp4 T C 17: 40,913,297 (GRCm39) F55L probably benign Het
Fam227a G A 15: 79,520,997 (GRCm39) probably benign Het
Ggt1 T C 10: 75,410,178 (GRCm39) Y37H probably damaging Het
Grsf1 A T 5: 88,820,589 (GRCm39) I64K probably damaging Het
Itga6 C T 2: 71,647,057 (GRCm39) T89I possibly damaging Het
Jph2 T C 2: 163,217,837 (GRCm39) T280A probably damaging Het
Lipm A G 19: 34,078,570 (GRCm39) M1V probably null Het
Nbeal1 C T 1: 60,274,396 (GRCm39) A513V possibly damaging Het
Or10a3 G A 7: 108,480,060 (GRCm39) T251I probably damaging Het
Or10a48 A T 7: 108,424,801 (GRCm39) M135K probably damaging Het
Or10q1b A T 19: 13,682,553 (GRCm39) I121F possibly damaging Het
Or13a28 A T 7: 140,217,829 (GRCm39) I72F probably damaging Het
Or5ak25 T A 2: 85,268,981 (GRCm39) I174F probably damaging Het
Or8b101 C T 9: 38,020,623 (GRCm39) P214S probably damaging Het
Orc6 A G 8: 86,034,215 (GRCm39) E146G probably benign Het
Patl2 A G 2: 121,956,328 (GRCm39) S179P probably benign Het
Pdzd8 C A 19: 59,333,890 (GRCm39) G44C probably damaging Het
Phox2b A G 5: 67,253,938 (GRCm39) probably benign Het
Ppp4r3b T G 11: 29,138,445 (GRCm39) H264Q probably damaging Het
Ptprk T C 10: 28,468,807 (GRCm39) I1409T possibly damaging Het
Pum1 T A 4: 130,493,323 (GRCm39) I842N probably damaging Het
Rnf123 G A 9: 107,945,501 (GRCm39) R390* probably null Het
Sgca T A 11: 94,862,131 (GRCm39) N174Y probably damaging Het
Slc7a14 A T 3: 31,311,912 (GRCm39) L36Q probably damaging Het
Srrm1 G A 4: 135,052,415 (GRCm39) P658L unknown Het
Stard13 G A 5: 150,965,651 (GRCm39) Q935* probably null Het
Suds3 C T 5: 117,232,970 (GRCm39) probably null Het
Sv2b A T 7: 74,773,911 (GRCm39) L520Q possibly damaging Het
Tmem26 T C 10: 68,587,125 (GRCm39) F191S probably damaging Het
Other mutations in Dgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01874:Dgat1 APN 15 76,387,241 (GRCm39) missense probably damaging 1.00
R0510:Dgat1 UTSW 15 76,395,767 (GRCm39) missense possibly damaging 0.85
R0894:Dgat1 UTSW 15 76,387,199 (GRCm39) missense possibly damaging 0.55
R1525:Dgat1 UTSW 15 76,395,786 (GRCm39) missense probably benign
R1682:Dgat1 UTSW 15 76,387,219 (GRCm39) missense probably benign 0.03
R1740:Dgat1 UTSW 15 76,386,929 (GRCm39) missense probably damaging 1.00
R1817:Dgat1 UTSW 15 76,386,703 (GRCm39) missense probably damaging 1.00
R2352:Dgat1 UTSW 15 76,386,513 (GRCm39) missense possibly damaging 0.66
R3012:Dgat1 UTSW 15 76,387,593 (GRCm39) missense possibly damaging 0.90
R3154:Dgat1 UTSW 15 76,386,721 (GRCm39) missense probably benign 0.27
R4059:Dgat1 UTSW 15 76,388,371 (GRCm39) missense possibly damaging 0.79
R4593:Dgat1 UTSW 15 76,388,889 (GRCm39) missense probably damaging 1.00
R5503:Dgat1 UTSW 15 76,386,394 (GRCm39) unclassified probably benign
R5818:Dgat1 UTSW 15 76,386,407 (GRCm39) unclassified probably benign
R5984:Dgat1 UTSW 15 76,386,458 (GRCm39) missense probably damaging 1.00
R6228:Dgat1 UTSW 15 76,387,493 (GRCm39) missense possibly damaging 0.89
R7352:Dgat1 UTSW 15 76,387,024 (GRCm39) nonsense probably null
R7625:Dgat1 UTSW 15 76,387,395 (GRCm39) missense possibly damaging 0.89
R8529:Dgat1 UTSW 15 76,387,237 (GRCm39) missense probably damaging 1.00
R9118:Dgat1 UTSW 15 76,386,718 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16