Incidental Mutation 'IGL01874:Dgat1'
ID178806
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dgat1
Ensembl Gene ENSMUSG00000022555
Gene Namediacylglycerol O-acyltransferase 1
SynonymsD15Ertd23e
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.393) question?
Stock #IGL01874
Quality Score
Status
Chromosome15
Chromosomal Location76502015-76511953 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 76503041 bp
ZygosityHeterozygous
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] [ENSMUST00000226860] [ENSMUST00000226872] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228757] [ENSMUST00000228868] [ENSMUST00000229363]
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: ENSMUST00000162354
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162813
Predicted Effect probably benign
Transcript: ENSMUST00000226238
Predicted Effect probably benign
Transcript: ENSMUST00000226860
Predicted Effect probably benign
Transcript: ENSMUST00000226872
Predicted Effect probably benign
Transcript: ENSMUST00000227478
Predicted Effect probably benign
Transcript: ENSMUST00000228371
Predicted Effect probably benign
Transcript: ENSMUST00000228688
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228720
Predicted Effect probably benign
Transcript: ENSMUST00000228757
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228781
Predicted Effect probably benign
Transcript: ENSMUST00000228868
Predicted Effect probably benign
Transcript: ENSMUST00000229363
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229569
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230069
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230505
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230722
Predicted Effect noncoding transcript
Transcript: ENSMUST00000230894
Predicted Effect noncoding transcript
Transcript: ENSMUST00000231035
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: 70,768,704 V723D possibly damaging Het
Adgrb1 G A 15: 74,541,574 V536I possibly damaging Het
Aox4 T C 1: 58,252,084 L787S probably damaging Het
Atp2c1 A C 9: 105,448,825 V293G probably damaging Het
Ccnb1 T C 13: 100,783,493 D170G probably damaging Het
Cdc42 T C 4: 137,336,070 I4V probably benign Het
Clip1 T C 5: 123,603,666 Q1175R possibly damaging Het
Cox6a1 A G 5: 115,345,845 *113Q probably null Het
Crtc2 C T 3: 90,258,508 P139L probably damaging Het
Cyp8b1 A T 9: 121,915,903 M121K possibly damaging Het
D630003M21Rik C A 2: 158,204,724 G778C probably damaging Het
Enox1 A G 14: 77,579,162 Y194C probably damaging Het
Fam120b T A 17: 15,403,039 C426* probably null Het
Fam129b A T 2: 32,905,767 probably null Het
Fxyd3 A G 7: 31,070,893 probably benign Het
Gin1 A G 1: 97,783,072 Y160C probably damaging Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm1818 T C 12: 48,556,190 noncoding transcript Het
Gucy1a2 T C 9: 3,797,343 S598P probably damaging Het
Hook3 T A 8: 26,039,732 N199Y possibly damaging Het
Il10ra A G 9: 45,267,160 L41P probably damaging Het
Itgam C T 7: 128,115,166 T949I probably damaging Het
Kctd3 A G 1: 188,996,991 V123A probably damaging Het
Krt84 G A 15: 101,527,804 A450V probably damaging Het
Lrrc7 G A 3: 158,240,443 probably benign Het
Nckap1 A G 2: 80,525,636 F608L probably damaging Het
Nmbr A T 10: 14,766,952 Y85F probably benign Het
Nol6 A C 4: 41,115,412 L1135R probably damaging Het
Ntan1 T C 16: 13,835,213 F278L probably benign Het
Olfr138 T A 17: 38,275,517 S249T probably benign Het
Pcsk5 T A 19: 17,595,677 T474S probably damaging Het
Pex11b T A 3: 96,643,567 probably null Het
Pkhd1 G T 1: 20,103,235 A3786E probably benign Het
Prkdc T C 16: 15,734,994 I2098T possibly damaging Het
Prl2c5 T A 13: 13,190,777 S169R probably benign Het
Ptbp2 A G 3: 119,747,800 V196A probably damaging Het
Rad17 T C 13: 100,617,684 probably benign Het
Skiv2l T C 17: 34,841,209 N114D probably benign Het
Slc47a2 T A 11: 61,312,859 probably null Het
Srcin1 A T 11: 97,533,098 M684K possibly damaging Het
Sspo T A 6: 48,452,190 C298S probably damaging Het
Tenm3 G T 8: 48,236,758 Y1915* probably null Het
Tnks1bp1 A G 2: 85,058,447 T373A probably benign Het
Trp63 A C 16: 25,882,585 N470H possibly damaging Het
Ttn T C 2: 76,798,563 N12703S probably damaging Het
Ubr4 T C 4: 139,393,289 probably benign Het
Vmn2r56 T A 7: 12,715,675 Y212F probably benign Het
Other mutations in Dgat1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02713:Dgat1 APN 15 76503534 missense probably damaging 1.00
R0510:Dgat1 UTSW 15 76511567 missense possibly damaging 0.85
R0894:Dgat1 UTSW 15 76502999 missense possibly damaging 0.55
R1525:Dgat1 UTSW 15 76511586 missense probably benign
R1682:Dgat1 UTSW 15 76503019 missense probably benign 0.03
R1740:Dgat1 UTSW 15 76502729 missense probably damaging 1.00
R1817:Dgat1 UTSW 15 76502503 missense probably damaging 1.00
R2352:Dgat1 UTSW 15 76502313 missense possibly damaging 0.66
R3012:Dgat1 UTSW 15 76503393 missense possibly damaging 0.90
R3154:Dgat1 UTSW 15 76502521 missense probably benign 0.27
R4059:Dgat1 UTSW 15 76504171 missense possibly damaging 0.79
R4593:Dgat1 UTSW 15 76504689 missense probably damaging 1.00
R5503:Dgat1 UTSW 15 76502194 unclassified probably benign
R5818:Dgat1 UTSW 15 76502207 unclassified probably benign
R5984:Dgat1 UTSW 15 76502258 missense probably damaging 1.00
R6228:Dgat1 UTSW 15 76503293 missense possibly damaging 0.89
Posted On2014-05-07