Incidental Mutation 'IGL01874:Dgat1'
ID 178806
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 # IGL01874
Quality Score
Status
Chromosome 15
Chromosomal Location 76386215-76396153 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 76387241 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 349 (F349L)
Ref Sequence ENSEMBL: ENSMUSP00000023214 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000228371] [ENSMUST00000227478] [ENSMUST00000226872] [ENSMUST00000228757] [ENSMUST00000228868] [ENSMUST00000229363] [ENSMUST00000226860]
AlphaFold Q9Z2A7
Predicted Effect probably damaging
Transcript: ENSMUST00000023214
AA Change: F349L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: F349L

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: ENSMUST00000162813
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162354
Predicted Effect probably benign
Transcript: ENSMUST00000228371
Predicted Effect probably benign
Transcript: ENSMUST00000227478
Predicted Effect probably benign
Transcript: ENSMUST00000226872
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Predicted Effect probably benign
Transcript: ENSMUST00000228688
Predicted Effect probably benign
Transcript: ENSMUST00000226238
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229569
Predicted Effect probably benign
Transcript: ENSMUST00000226860
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231035
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 A T 13: 70,916,823 (GRCm39) V723D possibly damaging Het
Adgrb1 G A 15: 74,413,423 (GRCm39) V536I possibly damaging Het
Aox4 T C 1: 58,291,243 (GRCm39) L787S probably damaging Het
Atp2c1 A C 9: 105,326,024 (GRCm39) V293G probably damaging Het
Ccnb1 T C 13: 100,920,001 (GRCm39) D170G probably damaging Het
Cdc42 T C 4: 137,063,381 (GRCm39) I4V probably benign Het
Clip1 T C 5: 123,741,729 (GRCm39) Q1175R possibly damaging Het
Cox6a1 A G 5: 115,483,904 (GRCm39) *113Q probably null Het
Crtc2 C T 3: 90,165,815 (GRCm39) P139L probably damaging Het
Cyp8b1 A T 9: 121,744,969 (GRCm39) M121K possibly damaging Het
D630003M21Rik C A 2: 158,046,644 (GRCm39) G778C probably damaging Het
Enox1 A G 14: 77,816,602 (GRCm39) Y194C probably damaging Het
Fam120b T A 17: 15,623,301 (GRCm39) C426* probably null Het
Fxyd3 A G 7: 30,770,318 (GRCm39) probably benign Het
Gin1 A G 1: 97,710,797 (GRCm39) Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm11110 T A 17: 57,399,693 (GRCm39) probably benign Het
Gm1818 T C 12: 48,602,973 (GRCm39) noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 (GRCm39) S598P probably damaging Het
Hook3 T A 8: 26,529,760 (GRCm39) N199Y possibly damaging Het
Il10ra A G 9: 45,178,458 (GRCm39) L41P probably damaging Het
Itgam C T 7: 127,714,338 (GRCm39) T949I probably damaging Het
Kctd3 A G 1: 188,729,188 (GRCm39) V123A probably damaging Het
Krt84 G A 15: 101,436,239 (GRCm39) A450V probably damaging Het
Lrrc7 G A 3: 157,946,080 (GRCm39) probably benign Het
Nckap1 A G 2: 80,355,980 (GRCm39) F608L probably damaging Het
Niban2 A T 2: 32,795,779 (GRCm39) probably null Het
Nmbr A T 10: 14,642,696 (GRCm39) Y85F probably benign Het
Nol6 A C 4: 41,115,412 (GRCm39) L1135R probably damaging Het
Ntan1 T C 16: 13,653,077 (GRCm39) F278L probably benign Het
Or2n1e T A 17: 38,586,408 (GRCm39) S249T probably benign Het
Pcsk5 T A 19: 17,573,041 (GRCm39) T474S probably damaging Het
Pex11b T A 3: 96,550,883 (GRCm39) probably null Het
Pkhd1 G T 1: 20,173,459 (GRCm39) A3786E probably benign Het
Prkdc T C 16: 15,552,858 (GRCm39) I2098T possibly damaging Het
Prl2c5 T A 13: 13,365,362 (GRCm39) S169R probably benign Het
Ptbp2 A G 3: 119,541,449 (GRCm39) V196A probably damaging Het
Rad17 T C 13: 100,754,192 (GRCm39) probably benign Het
Skic2 T C 17: 35,060,185 (GRCm39) N114D probably benign Het
Slc47a2 T A 11: 61,203,685 (GRCm39) probably null Het
Srcin1 A T 11: 97,423,924 (GRCm39) M684K possibly damaging Het
Sspo T A 6: 48,429,124 (GRCm39) C298S probably damaging Het
Tenm3 G T 8: 48,689,793 (GRCm39) Y1915* probably null Het
Tnks1bp1 A G 2: 84,888,791 (GRCm39) T373A probably benign Het
Trp63 A C 16: 25,701,335 (GRCm39) N470H possibly damaging Het
Ttn T C 2: 76,628,907 (GRCm39) N12703S probably damaging Het
Ubr4 T C 4: 139,120,600 (GRCm39) probably benign Het
Vmn2r56 T A 7: 12,449,602 (GRCm39) Y212F probably benign Het
Other mutations in Dgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Dgat1 APN 15 76,387,734 (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 2014-05-07