Mutagenetix > Incidental Mutation

Incidental Mutation 'R0056:Mogat1'

64352

Institutional Source

Beutler Lab

Gene Symbol

Mogat1

Ensembl Gene

ENSMUSG00000012187

Gene Name

monoacylglycerol O-acyltransferase 1

Synonyms

mDC2, 0610030A14Rik, Dgat2l1, MGAT1, 1110064N14Rik

MMRRC Submission

038350-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.064) question?

Stock #

R0056 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

78487628-78514810 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 78500407 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Arginine at position 157 (M157R)

Ref Sequence

ENSEMBL: ENSMUSP00000109152 (fasta)

Gene Model

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

AlphaFold

Q91ZV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000012331
AA Change: M157R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000012331
Gene: ENSMUSG00000012187
AA Change: M157R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000113524
AA Change: M157R

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000109152
Gene: ENSMUSG00000012187
AA Change: M157R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134947
AA Change: M157R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000116178
Gene: ENSMUSG00000012187
AA Change: M157R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000149732
AA Change: M126R

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000117903
Gene: ENSMUSG00000012187
AA Change: M126R

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

0.3443

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.5%

Validation Efficiency

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: 12 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bms1	A	T	6: 118,382,190 (GRCm39)	D449E	probably benign	Het
Etv3	T	C	3: 87,443,135 (GRCm39)	Y240H	possibly damaging	Het
Fscb	T	G	12: 64,521,021 (GRCm39)	R148S	possibly damaging	Het
Mapk6	A	G	9: 75,296,098 (GRCm39)	Y467H	possibly damaging	Het
Marf1	C	T	16: 13,960,398 (GRCm39)	A549T	probably damaging	Het
Pold2	T	A	11: 5,822,338 (GRCm39)	S444C	possibly damaging	Het
Robo4	G	A	9: 37,315,773 (GRCm39)	R342Q	probably benign	Het
Satb1	T	A	17: 52,047,231 (GRCm39)	I695F	probably damaging	Het
Snapc1	C	T	12: 74,021,806 (GRCm39)	R81C	probably damaging	Het
Stk10	T	A	11: 32,567,851 (GRCm39)	N884K	possibly damaging	Het
Tex15	A	G	8: 34,072,055 (GRCm39)	H2534R	probably benign	Het
Ticam2	G	T	18: 46,693,401 (GRCm39)	Q229K	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
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
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'- AGATGGGAACCCTTCCACTTCTCAC -3'
(R):5'- ACATCAAGCAACTGCTGCTGCC -3'

Sequencing Primer
(F):5'- TGTAGCTTGTCAAAACGCAG -3'
(R):5'- CTGCCACCCCAGAGCAC -3'

Posted On

2013-08-06