Mutagenetix > Incidental Mutation

Incidental Mutation 'R5818:Dgat1'

449189

Institutional Source

Beutler Lab

Gene Symbol

Dgat1

Ensembl Gene

ENSMUSG00000022555

Gene Name

diacylglycerol O-acyltransferase 1

Synonyms

D15Ertd23e

MMRRC Submission

043398-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.681) question?

Stock #

R5818 (G1)

Quality Score

213

Status

Validated

Chromosome

Chromosomal Location

76386215-76396153 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

G to A at 76386407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155104 (fasta)

Gene Model

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

AlphaFold

Q9Z2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000023214

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555

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: ENSMUST00000162813

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

probably benign
Transcript: ENSMUST00000226238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162354

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

probably benign
Transcript: ENSMUST00000227478

Predicted Effect

probably benign
Transcript: ENSMUST00000228371

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

100% (64/64)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,110,469 (GRCm39)	V560D	probably damaging	Het
Actn4	A	G	7: 28,618,444 (GRCm39)	I72T	probably damaging	Het
Adam33	A	T	2: 130,896,278 (GRCm39)	C440S	possibly damaging	Het
Bace1	T	C	9: 45,770,347 (GRCm39)	I361T	possibly damaging	Het
Bend6	T	C	1: 33,922,654 (GRCm39)		probably benign	Het
Bpifb9a	T	G	2: 154,104,215 (GRCm39)	N219K	probably damaging	Het
Cacna1g	C	A	11: 94,308,946 (GRCm39)	K1634N	probably damaging	Het
Cdk18	A	G	1: 132,046,836 (GRCm39)		probably null	Het
Chrng	G	A	1: 87,137,523 (GRCm39)	V320I	probably benign	Het
Corin	G	T	5: 72,592,738 (GRCm39)	H87N	probably benign	Het
Cps1	A	T	1: 67,205,647 (GRCm39)	I557F	possibly damaging	Het
Cyp4a29	T	C	4: 115,104,229 (GRCm39)	V99A	possibly damaging	Het
Dach1	T	C	14: 98,406,120 (GRCm39)	D209G	probably damaging	Het
Eif1ad8	T	G	12: 87,563,830 (GRCm39)	V55G	possibly damaging	Het
Fbxw26	G	T	9: 109,561,634 (GRCm39)	R187S	probably benign	Het
Gabrd	G	A	4: 155,472,818 (GRCm39)	P122S	probably damaging	Het
Gm11677	C	T	11: 111,615,537 (GRCm39)		noncoding transcript	Het
Hif1a	A	G	12: 73,986,338 (GRCm39)	Q343R	possibly damaging	Het
Hyou1	G	A	9: 44,300,223 (GRCm39)		probably null	Het
Igfn1	A	T	1: 135,893,864 (GRCm39)	I2072K	possibly damaging	Het
Itprid2	T	A	2: 79,474,937 (GRCm39)	S299T	probably damaging	Het
Kash5	C	T	7: 44,843,383 (GRCm39)		probably null	Het
Kctd8	C	T	5: 69,454,054 (GRCm39)	A328T	probably benign	Het
Krt10	A	G	11: 99,279,597 (GRCm39)	Y188H	probably damaging	Het
Krtap4-16	T	A	11: 99,742,349 (GRCm39)	Q17L	unknown	Het
Larp4b	T	A	13: 9,208,596 (GRCm39)	S416R	probably benign	Het
Lmtk2	G	A	5: 144,093,718 (GRCm39)	V232M	probably benign	Het
Mroh4	A	G	15: 74,483,831 (GRCm39)	I571T	probably damaging	Het
Myo15a	G	A	11: 60,388,777 (GRCm39)	R2021Q	probably benign	Het
Npl	G	A	1: 153,411,661 (GRCm39)	R63C	probably damaging	Het
Ntn4	A	G	10: 93,480,626 (GRCm39)	I80V	probably benign	Het
Numb	C	T	12: 83,872,028 (GRCm39)		probably null	Het
Nusap1	A	C	2: 119,465,994 (GRCm39)	M205L	possibly damaging	Het
Onecut2	T	A	18: 64,474,046 (GRCm39)	M180K	possibly damaging	Het
Or10d1b	T	C	9: 39,613,661 (GRCm39)	S135G	probably benign	Het
Pmfbp1	T	C	8: 110,265,311 (GRCm39)		probably null	Het
Ppfia1	T	C	7: 144,074,305 (GRCm39)		probably benign	Het
Ppm1b	A	G	17: 85,301,147 (GRCm39)	K9R	probably benign	Het
Rab11fip3	T	C	17: 26,235,090 (GRCm39)	S608G	probably damaging	Het
Smim8	TTTAATGAAGAGCT	TT	4: 34,771,261 (GRCm39)		probably benign	Het
Sohlh2	A	G	3: 55,097,922 (GRCm39)	T125A	probably damaging	Het
Tet1	C	A	10: 62,652,187 (GRCm39)	M1610I	possibly damaging	Het
Tgfbr3	A	T	5: 107,280,869 (GRCm39)	D630E	probably benign	Het
Thnsl2	T	C	6: 71,111,127 (GRCm39)	D247G	probably benign	Het
Tmem198b	G	A	10: 128,638,057 (GRCm39)	R169W	probably benign	Het
Tmem201	G	A	4: 149,811,849 (GRCm39)	A332V	probably benign	Het
Tsku	T	C	7: 98,001,305 (GRCm39)	D342G	possibly damaging	Het
Ucn2	A	T	9: 108,815,565 (GRCm39)	H109L	probably benign	Het
Virma	T	G	4: 11,513,319 (GRCm39)	L391R	possibly damaging	Het
Vmn1r60	T	A	7: 5,548,098 (GRCm39)	M1L	probably benign	Het
Vmn2r76	T	C	7: 85,879,142 (GRCm39)	H386R	probably benign	Het
Zfp608	C	T	18: 55,028,468 (GRCm39)	R1315Q	probably benign	Het
Zmym2	A	G	14: 57,183,986 (GRCm39)	T983A	probably benign	Het
Zscan26	A	G	13: 21,629,931 (GRCm39)	S65P	probably benign	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
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
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'- CAACCCCTGCAAGAAGGTTTTAG -3'
(R):5'- CATGTGTTCTCAGGTCCCACTG -3'

Sequencing Primer
(F):5'- CCCTGCAAGAAGGTTTTAGACAGC -3'
(R):5'- TCCCACTGGCCTGGATTGTG -3'

Posted On

2016-12-20