Mutagenetix > Incidental Mutation

Incidental Mutation 'R3012:Dgat1'

257549

Institutional Source

Beutler Lab

Gene Symbol

Dgat1

Ensembl Gene

ENSMUSG00000022555

Gene Name

diacylglycerol O-acyltransferase 1

Synonyms

D15Ertd23e

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

R3012 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76386215-76396153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 76387593 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 308 (Q308H)

Ref Sequence

ENSEMBL: ENSMUSP00000023214 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023214] [ENSMUST00000072838] [ENSMUST00000228868] [ENSMUST00000226872] [ENSMUST00000229363] [ENSMUST00000227478] [ENSMUST00000228757] [ENSMUST00000226860] [ENSMUST00000228371]

AlphaFold

Q9Z2A7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000023214
AA Change: Q308H

PolyPhen 2 Score 0.900 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: Q308H

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: ENSMUST00000228688

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

probably benign
Transcript: ENSMUST00000226238

Predicted Effect

probably benign
Transcript: ENSMUST00000227478

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

probably benign
Transcript: ENSMUST00000228371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh18a1	G	T	19: 40,546,135 (GRCm39)	Y585*	probably null	Het
Ankrd17	G	A	5: 90,378,727 (GRCm39)	P2563S	probably damaging	Het
Atg10	A	T	13: 91,302,397 (GRCm39)	F47Y	probably damaging	Het
Ccdc39	C	T	3: 33,868,817 (GRCm39)	R798Q	probably damaging	Het
Cfi	A	G	3: 129,668,579 (GRCm39)	D535G	probably damaging	Het
Dennd11	T	C	6: 40,412,926 (GRCm39)	E45G	probably benign	Het
Dsp	T	C	13: 38,377,318 (GRCm39)	I1701T	possibly damaging	Het
Egr2	GAA	GA	10: 67,375,733 (GRCm39)		probably null	Het
Fes	G	C	7: 80,036,915 (GRCm39)	S56R	possibly damaging	Het
Gria1	G	A	11: 57,180,260 (GRCm39)	V737M	probably damaging	Het
Gtf2h1	A	G	7: 46,453,319 (GRCm39)	H84R	probably damaging	Het
Ifi208	A	G	1: 173,523,136 (GRCm39)		probably null	Het
Il15	T	A	8: 83,071,049 (GRCm39)	N22I	probably damaging	Het
Me1	A	G	9: 86,493,965 (GRCm39)	S323P	probably benign	Het
Or10a5	T	C	7: 106,635,569 (GRCm39)	F69S	possibly damaging	Het
Parp4	T	C	14: 56,832,873 (GRCm39)		probably null	Het
Pcdhga7	A	G	18: 37,848,691 (GRCm39)	T233A	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rpe65	G	T	3: 159,310,200 (GRCm39)	V128F	possibly damaging	Het
Slc5a11	GGTGC	G	7: 122,838,595 (GRCm39)		probably null	Het
Tbc1d32	A	G	10: 56,050,011 (GRCm39)	V509A	probably benign	Het
Tln1	T	A	4: 43,542,525 (GRCm39)	T1428S	probably benign	Het
Ttc27	A	T	17: 75,147,454 (GRCm39)	I669F	probably benign	Het
Tubb3	T	G	8: 124,147,975 (GRCm39)	C303G	probably damaging	Het
Tulp2	G	T	7: 45,168,187 (GRCm39)	V188L	probably damaging	Het
Zfr	T	C	15: 12,166,249 (GRCm39)	Y840H	probably damaging	Het

Other mutations in Dgat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01874:Dgat1	APN	15	76,387,241 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- TTAAGAGACGCTCAATGATCCG -3'
(R):5'- CCCGAATACGAAAGCGCTTTC -3'

Sequencing Primer
(F):5'- GACGCTCAATGATCCGTGAATAGTC -3'
(R):5'- GAATACGAAAGCGCTTTCTGCTACG -3'

Posted On

2015-01-11