Mutagenetix > Incidental Mutation

Incidental Mutation 'R4593:Dgat1'

344234

Institutional Source

Beutler Lab

Gene Symbol

Dgat1

Ensembl Gene

ENSMUSG00000022555

Gene Name

diacylglycerol O-acyltransferase 1

Synonyms

D15Ertd23e

MMRRC Submission

041809-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R4593 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76386215-76396153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 76388889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 111 (R111S)

Ref Sequence

ENSEMBL: ENSMUSP00000023214 (fasta)

Gene Model

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

AlphaFold

Q9Z2A7

Predicted Effect

probably damaging
Transcript: ENSMUST00000023214
AA Change: R111S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: R111S

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

noncoding transcript
Transcript: ENSMUST00000162354

Predicted Effect

probably benign
Transcript: ENSMUST00000229363

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably benign
Transcript: ENSMUST00000226238

Predicted Effect

probably benign
Transcript: ENSMUST00000227478

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

probably benign
Transcript: ENSMUST00000228371

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

96% (45/47)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
Aopep	T	C	13: 63,215,906 (GRCm39)	S393P	probably benign	Het
Atm	G	T	9: 53,364,894 (GRCm39)	A8E	possibly damaging	Het
Atxn3	A	T	12: 101,889,436 (GRCm39)	M333K	probably benign	Het
Cd86	A	G	16: 36,426,918 (GRCm39)	*310R	probably null	Het
Cyp2s1	ACAGCAGCAGCAGCAGCAGCAGCAG	ACAGCAGCAGCAGCAGCAGCAG	7: 25,515,867 (GRCm39)		probably benign	Het
Dner	T	C	1: 84,673,449 (GRCm39)	M1V	probably null	Het
Dnhd1	G	A	7: 105,364,653 (GRCm39)	D4240N	probably benign	Het
Emp3	A	G	7: 45,568,777 (GRCm39)	L27P	probably damaging	Het
Glra3	G	T	8: 56,393,916 (GRCm39)	G9V	probably damaging	Het
Gpr149	A	T	3: 62,510,151 (GRCm39)		probably benign	Het
Ighv1-9	T	C	12: 114,547,224 (GRCm39)	T105A	probably benign	Het
Kcnd3	C	T	3: 105,566,082 (GRCm39)	A421V	probably damaging	Het
Ldhd	T	C	8: 112,355,996 (GRCm39)	D129G	probably damaging	Het
Lnpep	A	G	17: 17,799,289 (GRCm39)	V122A	probably benign	Het
Lrrc37a	A	G	11: 103,389,795 (GRCm39)	Y1877H	possibly damaging	Het
Med13l	T	C	5: 118,880,625 (GRCm39)	L1239P	probably damaging	Het
Mib1	T	C	18: 10,768,191 (GRCm39)	L480S	possibly damaging	Het
Mkrn3	C	T	7: 62,068,552 (GRCm39)	W413*	probably null	Het
Myo7b	A	G	18: 32,146,428 (GRCm39)	V119A	possibly damaging	Het
Nexn	T	A	3: 151,958,553 (GRCm39)	R113S	probably damaging	Het
Npas3	A	T	12: 54,115,280 (GRCm39)	Q703L	probably benign	Het
Npr2	A	G	4: 43,647,323 (GRCm39)		probably benign	Het
Nub1	A	G	5: 24,914,119 (GRCm39)	Y624C	probably damaging	Het
Obscn	A	C	11: 59,024,075 (GRCm39)	S532A	probably damaging	Het
Or1e33	T	A	11: 73,738,140 (GRCm39)	K270N	probably benign	Het
Or9g20	A	G	2: 85,630,008 (GRCm39)	L202P	probably damaging	Het
Panx2	T	C	15: 88,952,118 (GRCm39)	I195T	probably damaging	Het
Parp11	T	C	6: 127,451,262 (GRCm39)	I104T	probably benign	Het
Pkd1l1	G	T	11: 8,851,253 (GRCm39)	D726E	probably damaging	Het
Pom121l2	C	T	13: 22,168,623 (GRCm39)	R965W	probably damaging	Het
Prrc2c	T	C	1: 162,525,101 (GRCm39)	K502E	probably damaging	Het
Rasa1	T	C	13: 85,386,340 (GRCm39)		probably null	Het
Sva	T	C	6: 42,019,592 (GRCm39)	S151P	possibly damaging	Het
Svep1	T	C	4: 58,091,944 (GRCm39)	N1564D	possibly damaging	Het
Unk	T	C	11: 115,939,882 (GRCm39)	I129T	probably benign	Het
Urb1	T	C	16: 90,584,332 (GRCm39)	D550G	probably damaging	Het
Vmn1r194	T	A	13: 22,428,461 (GRCm39)	M26K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,686 (GRCm39)	F25I	possibly damaging	Het
Vmn1r88	A	G	7: 12,911,769 (GRCm39)	K42E	probably damaging	Het
Zbtb24	A	G	10: 41,327,953 (GRCm39)	R280G	possibly 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
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
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'- CACCAATAATCACGCATGGGG -3'
(R):5'- CAGTACTTGGGCAAGGGTAG -3'

Sequencing Primer
(F):5'- CCAGCTGTAGGGGTCCTTCAG -3'
(R):5'- TAGGCAGCCGTCCTCTCAAC -3'

Posted On

2015-09-25