Mutagenetix > Incidental Mutation

Incidental Mutation 'R1146:Mogat1'

165087

Institutional Source

Beutler Lab

Gene Symbol

Mogat1

Ensembl Gene

ENSMUSG00000012187

Gene Name

monoacylglycerol O-acyltransferase 1

Synonyms

mDC2, 0610030A14Rik, Dgat2l1, MGAT1, 1110064N14Rik

MMRRC Submission

039219-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R1146 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78487628-78514810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 78500250 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 105 (I105V)

Ref Sequence

ENSEMBL: ENSMUSP00000116178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012331] [ENSMUST00000113524] [ENSMUST00000134947] [ENSMUST00000149732] [ENSMUST00000152111]

AlphaFold

Q91ZV4

Predicted Effect

probably benign
Transcript: ENSMUST00000012331
AA Change: I105V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000012331
Gene: ENSMUSG00000012187
AA Change: I105V

Domain	Start	End	E-Value	Type
Pfam:DAGAT	40	335	3.2e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000113524
AA Change: I105V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000109152
Gene: ENSMUSG00000012187
AA Change: I105V

Domain	Start	End	E-Value	Type
Pfam:DAGAT	40	335	3.2e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000134947
AA Change: I105V

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000116178
Gene: ENSMUSG00000012187
AA Change: I105V

Domain	Start	End	E-Value	Type
Pfam:DAGAT	40	201	2.9e-55	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000149732
AA Change: I74V

PolyPhen 2 Score 0.053 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117903
Gene: ENSMUSG00000012187
AA Change: I74V

Domain	Start	End	E-Value	Type
Pfam:DAGAT	9	247	3.4e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152111

SMART Domains

Protein: ENSMUSP00000123427
Gene: ENSMUSG00000012187

Domain	Start	End	E-Value	Type
Pfam:DAGAT	40	82	1.9e-9	PFAM

Meta Mutation Damage Score

0.1016

Coding Region Coverage

1x: 99.6%
3x: 98.5%
10x: 95.4%
20x: 88.7%

Validation Efficiency

98% (44/45)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Acyl-CoA:monoacylglycerol acyltransferase (MOGAT; EC 2.3.1.22) catalyzes the synthesis of diacylglycerols, the precursor of physiologically important lipids such as triacylglycerol and phospholipids (Yen et al., 2002 [PubMed 12077311]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased body weight in female, but not, male mice and does not ameliorate hepatic steatosis in lipodystrophic or obese mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,679,795 (GRCm39)	V1848E	probably damaging	Het
Alpk3	A	G	7: 80,727,343 (GRCm39)	K158E	probably damaging	Het
Arrdc4	T	A	7: 68,389,756 (GRCm39)	E356D	probably damaging	Het
Asb4	A	G	6: 5,423,591 (GRCm39)	N246S	probably damaging	Het
Ccdc150	A	T	1: 54,404,130 (GRCm39)		probably benign	Het
Ctsj	G	A	13: 61,150,312 (GRCm39)	P230L	probably benign	Het
Dync1i2	C	T	2: 71,058,164 (GRCm39)		probably benign	Het
Eme1	A	G	11: 94,536,277 (GRCm39)	L564P	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Frg1	A	G	8: 41,864,254 (GRCm39)		probably benign	Het
Fzd2	A	T	11: 102,496,206 (GRCm39)	S217C	possibly damaging	Het
Gaa	G	T	11: 119,165,730 (GRCm39)	R81L	probably damaging	Het
Gfral	A	G	9: 76,074,341 (GRCm39)	V368A	probably benign	Het
Gm10774	T	C	2: 126,551,392 (GRCm39)	Y29C	probably benign	Het
Gucy1a2	T	A	9: 3,759,830 (GRCm39)	N545K	probably damaging	Het
Herc2	T	C	7: 55,796,444 (GRCm39)	S1939P	probably benign	Het
Ifnk	T	C	4: 35,152,231 (GRCm39)	I53T	probably benign	Het
Iqub	G	A	6: 24,505,627 (GRCm39)	L94F	possibly damaging	Het
Kpna1	C	T	16: 35,853,749 (GRCm39)	R460*	probably null	Het
Masp1	T	C	16: 23,310,865 (GRCm39)	E189G	probably damaging	Het
Mpi	A	G	9: 57,452,472 (GRCm39)		probably benign	Het
Msh2	C	A	17: 87,987,488 (GRCm39)	D209E	probably benign	Het
Nsf	G	A	11: 103,719,364 (GRCm39)	T646I	probably damaging	Het
Or10g9b	A	T	9: 39,917,390 (GRCm39)	V285D	possibly damaging	Het
Or4c10b	C	T	2: 89,711,550 (GRCm39)	P127S	probably damaging	Het
Or5b24	T	A	19: 12,912,329 (GRCm39)	S76T	possibly damaging	Het
Or6b2	G	A	1: 92,407,612 (GRCm39)	H244Y	probably damaging	Het
Otogl	T	A	10: 107,722,374 (GRCm39)	I327F	probably damaging	Het
Pappa2	T	C	1: 158,682,552 (GRCm39)	D832G	probably damaging	Het
Pax5	G	T	4: 44,697,512 (GRCm39)		probably benign	Het
Pfkfb4	A	G	9: 108,836,794 (GRCm39)	E163G	probably benign	Het
Phc1	T	C	6: 122,300,416 (GRCm39)		probably benign	Het
Piwil1	T	C	5: 128,824,957 (GRCm39)	S552P	probably benign	Het
Ppfia3	A	C	7: 45,001,639 (GRCm39)	D424E	probably benign	Het
Prss16	A	G	13: 22,191,138 (GRCm39)		probably benign	Het
Ptpro	T	A	6: 137,420,592 (GRCm39)	V1007D	probably damaging	Het
Rbsn	A	G	6: 92,178,711 (GRCm39)		probably null	Het
Rexo1	C	T	10: 80,380,239 (GRCm39)	S919N	probably benign	Het
Sec31a	T	C	5: 100,510,032 (GRCm39)	N1152D	probably damaging	Het
Sel1l3	A	T	5: 53,274,445 (GRCm39)	F1012I	possibly damaging	Het
Sema4c	A	G	1: 36,589,646 (GRCm39)	V539A	probably benign	Het
Sf3b5	A	G	10: 12,884,575 (GRCm39)	E70G	possibly damaging	Het
Tmcc2	TTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGC	1: 132,285,493 (GRCm39)		probably benign	Het
Tor1aip2	T	C	1: 155,940,483 (GRCm39)	V263A	possibly damaging	Het
Unc45b	A	G	11: 82,813,733 (GRCm39)	E380G	probably damaging	Het
Usp16	C	T	16: 87,271,536 (GRCm39)	T364M	possibly damaging	Het
Wwox	T	C	8: 115,438,776 (GRCm39)	S281P	probably damaging	Het
Zfp110	A	G	7: 12,580,721 (GRCm39)		probably null	Het
Zfp335	G	A	2: 164,738,043 (GRCm39)	A856V	probably benign	Het
Zfp652	G	A	11: 95,640,608 (GRCm39)	E178K	possibly damaging	Het

Other mutations in Mogat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0056:Mogat1	UTSW	1	78,500,407 (GRCm39)	missense	probably damaging	0.99
R0056:Mogat1	UTSW	1	78,500,407 (GRCm39)	missense	probably damaging	0.99
R0105:Mogat1	UTSW	1	78,500,307 (GRCm39)	missense	probably benign	0.17
R0105:Mogat1	UTSW	1	78,500,307 (GRCm39)	missense	probably benign	0.17
R0357:Mogat1	UTSW	1	78,488,677 (GRCm39)	missense	probably benign	0.01
R1146:Mogat1	UTSW	1	78,500,250 (GRCm39)	missense	probably benign	0.09
R1716:Mogat1	UTSW	1	78,514,681 (GRCm39)	missense	probably benign	0.01
R3799:Mogat1	UTSW	1	78,505,775 (GRCm39)	missense	probably benign	0.00
R4168:Mogat1	UTSW	1	78,488,672 (GRCm39)	missense	possibly damaging	0.77
R5485:Mogat1	UTSW	1	78,500,307 (GRCm39)	missense	probably benign	0.17
R5929:Mogat1	UTSW	1	78,500,370 (GRCm39)	missense	probably benign	0.00
R6640:Mogat1	UTSW	1	78,500,411 (GRCm39)	missense	probably damaging	0.99
R6841:Mogat1	UTSW	1	78,499,496 (GRCm39)	missense	probably damaging	1.00
R7842:Mogat1	UTSW	1	78,499,502 (GRCm39)	critical splice donor site	probably null
R8179:Mogat1	UTSW	1	78,504,255 (GRCm39)	missense	possibly damaging	0.58
R9708:Mogat1	UTSW	1	78,488,633 (GRCm39)	missense	probably damaging	0.99
R9788:Mogat1	UTSW	1	78,499,342 (GRCm39)	missense	probably benign	0.00
Z1177:Mogat1	UTSW	1	78,505,890 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGTATGGAGGGACCTGGGCTAAATG -3'
(R):5'- AGGGACAGTGGCTGTATCACCAAG -3'

Sequencing Primer
(F):5'- GGACCTGGGCTAAATGGATTG -3'
(R):5'- ACAGTGGCTGTGTCACTTAC -3'

Posted On

2014-03-28