Mutagenetix > Incidental Mutation

Incidental Mutation 'R3154:Dgat1'

263429

Institutional Source

Beutler Lab

Gene Symbol

Dgat1

Ensembl Gene

ENSMUSG00000022555

Gene Name

diacylglycerol O-acyltransferase 1

Synonyms

D15Ertd23e

MMRRC Submission

040605-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.604) question?

Stock #

R3154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76386215-76396153 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76386721 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 439 (L439F)

Ref Sequence

ENSEMBL: ENSMUSP00000023214 (fasta)

Gene Model

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

AlphaFold

Q9Z2A7

Predicted Effect

probably benign
Transcript: ENSMUST00000023214
AA Change: L439F

PolyPhen 2 Score 0.274 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000023214
Gene: ENSMUSG00000022555
AA Change: L439F

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

probably benign
Transcript: ENSMUST00000227478

Predicted Effect

probably benign
Transcript: ENSMUST00000228688

Predicted Effect

probably benign
Transcript: ENSMUST00000228868

Predicted Effect

probably benign
Transcript: ENSMUST00000228757

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228720

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227921

Predicted Effect

probably benign
Transcript: ENSMUST00000226872

Predicted Effect

probably benign
Transcript: ENSMUST00000226238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228781

Predicted Effect

probably benign
Transcript: ENSMUST00000226860

Predicted Effect

probably benign
Transcript: ENSMUST00000228371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229569

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230894

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231035

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230069

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230505

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230722

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,282,744 (GRCm39)	N200H	probably damaging	Het
Abca17	T	A	17: 24,547,720 (GRCm39)	D218V	probably damaging	Het
Ap1b1	T	C	11: 4,973,135 (GRCm39)	V326A	possibly damaging	Het
Bdp1	A	T	13: 100,186,322 (GRCm39)	V1710E	probably damaging	Het
Chrna3	C	T	9: 54,923,334 (GRCm39)	C158Y	probably damaging	Het
Cnnm3	T	A	1: 36,560,303 (GRCm39)	S608T	probably damaging	Het
Cnot1	T	C	8: 96,470,906 (GRCm39)	E1314G	possibly damaging	Het
Cobll1	A	T	2: 64,937,394 (GRCm39)	M406K	probably benign	Het
Cyp2d34	T	C	15: 82,501,767 (GRCm39)	K248E	probably benign	Het
Dcdc2a	A	C	13: 25,286,340 (GRCm39)	I125L	probably benign	Het
Disc1	T	A	8: 125,862,043 (GRCm39)	S472T	probably damaging	Het
Dnajb3	C	A	1: 88,132,773 (GRCm39)	V210F	probably benign	Het
Fancd2	A	G	6: 113,570,230 (GRCm39)	S1394G	possibly damaging	Het
Fasn	A	T	11: 120,698,765 (GRCm39)	L2475Q	probably damaging	Het
Fn1	A	T	1: 71,632,242 (GRCm39)	C2335S	probably damaging	Het
Gpld1	T	C	13: 25,127,603 (GRCm39)	S2P	unknown	Het
Gpld1	G	T	13: 25,140,146 (GRCm39)		probably null	Het
Gsc2	G	A	16: 17,732,364 (GRCm39)	R137W	probably damaging	Het
Gsdme	T	C	6: 50,228,343 (GRCm39)	R42G	probably damaging	Het
Gtf3c5	T	C	2: 28,469,548 (GRCm39)	T119A	probably damaging	Het
Hs6st3	T	C	14: 120,106,389 (GRCm39)	S266P	probably damaging	Het
Htr2a	T	C	14: 74,943,262 (GRCm39)	F281L	probably benign	Het
Hus1b	T	C	13: 31,131,236 (GRCm39)	K141R	probably benign	Het
Ireb2	T	C	9: 54,793,230 (GRCm39)		probably null	Het
Klhdc7a	T	A	4: 139,693,024 (GRCm39)	Y641F	probably benign	Het
Kri1	T	C	9: 21,193,190 (GRCm39)	E57G	possibly damaging	Het
Map4	A	G	9: 109,828,860 (GRCm39)	T82A	probably benign	Het
Mthfr	T	G	4: 148,136,061 (GRCm39)	M353R	probably benign	Het
Mtus2	A	G	5: 148,240,083 (GRCm39)		probably benign	Het
Muc5ac	T	A	7: 141,346,473 (GRCm39)		probably null	Het
Myo15a	T	A	11: 60,370,186 (GRCm39)		probably null	Het
Nynrin	A	T	14: 56,101,044 (GRCm39)	Q278L	possibly damaging	Het
Pced1b	T	G	15: 97,282,423 (GRCm39)		probably null	Het
Penk	T	C	4: 4,134,152 (GRCm39)	D165G	probably damaging	Het
Pfkm	T	A	15: 98,016,090 (GRCm39)	V90D	probably damaging	Het
Pgk2	T	A	17: 40,519,134 (GRCm39)	D98V	probably damaging	Het
Psg28	C	A	7: 18,160,348 (GRCm39)	A283S	possibly damaging	Het
Rgl3	A	G	9: 21,892,070 (GRCm39)	L338P	probably damaging	Het
Rnf126	A	T	10: 79,597,465 (GRCm39)	I149N	probably damaging	Het
Ros1	T	C	10: 51,927,077 (GRCm39)	H2181R	probably benign	Het
Slc38a11	C	T	2: 65,160,679 (GRCm39)	C305Y	probably damaging	Het
Speg	T	A	1: 75,378,186 (GRCm39)	V798E	probably damaging	Het
Spesp1	G	A	9: 62,189,376 (GRCm39)		probably benign	Het
Styk1	A	T	6: 131,286,975 (GRCm39)	Y84*	probably null	Het
Syt2	T	C	1: 134,669,599 (GRCm39)	L80P	possibly damaging	Het
Tra2a	C	T	6: 49,222,446 (GRCm39)		probably benign	Het
Trim10	T	A	17: 37,182,580 (GRCm39)	C149S	probably damaging	Het
Vmn2r38	T	C	7: 9,097,689 (GRCm39)	T135A	probably benign	Het
Wipf1	A	G	2: 73,267,834 (GRCm39)	V188A	possibly damaging	Het
Yipf2	G	A	9: 21,501,197 (GRCm39)	A67V	probably benign	Het
Zfp759	A	G	13: 67,286,719 (GRCm39)	E96G	probably benign	Het
Zic3	G	A	X: 57,076,838 (GRCm39)	V100M	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
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'- TAGTTCCCTTGGAAGAATCGGC -3'
(R):5'- GCTTGCTCTGCAGACACTTC -3'

Sequencing Primer
(F):5'- TTGGAAGAATCGGCCCACAATC -3'
(R):5'- TATGCTCAGACATGGCAGC -3'

Posted On

2015-02-05