Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02713:Dgat1'

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

Chromosomal Location

76502015-76511953 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76503534 bp (GRCm38)

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] [ENSMUST00000226860] [ENSMUST00000226872] [ENSMUST00000227478] [ENSMUST00000228371] [ENSMUST00000228868] [ENSMUST00000229363] [ENSMUST00000228757]

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	A	1: 37,624,137	K893N	possibly damaging	Het
Acan	A	G	7: 79,100,244	T1588A	possibly damaging	Het
Apeh	A	T	9: 108,085,672	L700Q	probably damaging	Het
Arid1b	T	C	17: 5,343,011	I2272T	probably damaging	Het
Best3	T	G	10: 117,024,529	F565V	probably benign	Het
Birc6	A	G	17: 74,579,324	N521S	probably benign	Het
Cd209f	T	A	8: 4,103,732	R191S	probably benign	Het
Clec4e	A	T	6: 123,286,304	Y63*	probably null	Het
Cyp26c1	C	T	19: 37,693,219	T490M	probably damaging	Het
Cyp2b9	T	A	7: 26,173,520	H29Q	probably benign	Het
Cyp2d10	A	C	15: 82,406,082		probably benign	Het
Dyrk1a	C	A	16: 94,685,345		probably benign	Het
Esp4	T	C	17: 40,602,406	F55L	probably benign	Het
Fam227a	G	A	15: 79,636,796		probably benign	Het
Ggt1	T	C	10: 75,574,344	Y37H	probably damaging	Het
Grsf1	A	T	5: 88,672,730	I64K	probably damaging	Het
Itga6	C	T	2: 71,816,713	T89I	possibly damaging	Het
Jph2	T	C	2: 163,375,917	T280A	probably damaging	Het
Lipm	A	G	19: 34,101,170	M1V	probably null	Het
Nbeal1	C	T	1: 60,235,237	A513V	possibly damaging	Het
Olfr1491	A	T	19: 13,705,189	I121F	possibly damaging	Het
Olfr514	A	T	7: 108,825,594	M135K	probably damaging	Het
Olfr518	G	A	7: 108,880,853	T251I	probably damaging	Het
Olfr61	A	T	7: 140,637,916	I72F	probably damaging	Het
Olfr888	C	T	9: 38,109,327	P214S	probably damaging	Het
Olfr995	T	A	2: 85,438,637	I174F	probably damaging	Het
Orc6	A	G	8: 85,307,586	E146G	probably benign	Het
Patl2	A	G	2: 122,125,847	S179P	probably benign	Het
Pdzd8	C	A	19: 59,345,458	G44C	probably damaging	Het
Phox2b	A	G	5: 67,096,595		probably benign	Het
Ppp4r3b	T	G	11: 29,188,445	H264Q	probably damaging	Het
Ptprk	T	C	10: 28,592,811	I1409T	possibly damaging	Het
Pum1	T	A	4: 130,766,012	I842N	probably damaging	Het
Rnf123	G	A	9: 108,068,302	R390*	probably null	Het
Sgca	T	A	11: 94,971,305	N174Y	probably damaging	Het
Slc7a14	A	T	3: 31,257,763	L36Q	probably damaging	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Stard13	G	A	5: 151,042,186	Q935*	probably null	Het
Suds3	C	T	5: 117,094,905		probably null	Het
Sv2b	A	T	7: 75,124,163	L520Q	possibly damaging	Het
Tmem26	T	C	10: 68,751,295	F191S	probably damaging	Het

Other mutations in Dgat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Dgat1	APN	15	76503041	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
R7352:Dgat1	UTSW	15	76502824	nonsense	probably null
R7625:Dgat1	UTSW	15	76503195	missense	possibly damaging	0.89
R8529:Dgat1	UTSW	15	76503037	missense	probably damaging	1.00
R9118:Dgat1	UTSW	15	76502518	missense	probably damaging	1.00

Posted On

2015-04-16