Mutagenetix > Incidental Mutations

Incidental Mutation 'R5429:Mboat1'

427084

Institutional Source

Beutler Lab

Gene Symbol

Mboat1

Ensembl Gene

ENSMUSG00000038732

Gene Name

membrane bound O-acyltransferase domain containing 1

Synonyms

9130215M02Rik, Oact1

MMRRC Submission

042995-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

30136489-30246717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 30219667 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 150 (T150A)

Ref Sequence

ENSEMBL: ENSMUSP00000045441 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047311]

Predicted Effect

probably benign
Transcript: ENSMUST00000047311
AA Change: T150A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: T150A

Domain	Start	End	E-Value	Type
Pfam:MBOAT	36	438	4.8e-29	PFAM
transmembrane domain	455	472	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152798

SMART Domains

Protein: ENSMUSP00000121195
Gene: ENSMUSG00000038732

Domain	Start	End	E-Value	Type
Pfam:MBOAT	9	209	1.3e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000220870

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the membrane-bound O-acetyltransferase superfamily. The encoded transmembrane protein is an enzyme that transfers organic compounds, preferably from oleoyl-CoA, to hydroxyl groups of protein targets in membranes. A translocation disrupting this gene may be associated with brachydactyly syndactyly syndrome. Alternately spliced transcript variants have been described for this gene. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Ttc39b	A	G	4: 83,243,953	I330T	possibly damaging	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Mboat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Mboat1	APN	13	30195793	splice site	probably benign
IGL01331:Mboat1	APN	13	30219701	splice site	probably benign
IGL01837:Mboat1	APN	13	30241183	missense	possibly damaging	0.72
IGL02070:Mboat1	APN	13	30224397	missense	probably benign	0.02
IGL03338:Mboat1	APN	13	30136759	missense	probably benign	0.01
langsat	UTSW	13	30202375	missense	probably benign	0.37
R0201:Mboat1	UTSW	13	30202375	missense	probably benign	0.37
R0322:Mboat1	UTSW	13	30232080	splice site	probably benign
R0448:Mboat1	UTSW	13	30202410	missense	probably damaging	1.00
R1793:Mboat1	UTSW	13	30219650	missense	probably damaging	0.99
R2040:Mboat1	UTSW	13	30241317	critical splice donor site	probably null
R3054:Mboat1	UTSW	13	30195741	missense	probably benign
R3122:Mboat1	UTSW	13	30238048	missense	probably damaging	1.00
R4948:Mboat1	UTSW	13	30241230	missense	probably damaging	1.00
R4958:Mboat1	UTSW	13	30224393	missense	probably damaging	1.00
R4992:Mboat1	UTSW	13	30202360	missense	possibly damaging	0.80
R5862:Mboat1	UTSW	13	30235697	missense	probably damaging	1.00
R6025:Mboat1	UTSW	13	30224526	missense	probably benign
R6352:Mboat1	UTSW	13	30202420	missense	possibly damaging	0.59
R6956:Mboat1	UTSW	13	30238076	missense	possibly damaging	0.89
R7088:Mboat1	UTSW	13	30195789	critical splice donor site	probably null
R7165:Mboat1	UTSW	13	30224415	missense	probably damaging	1.00
R7366:Mboat1	UTSW	13	30202362	missense	possibly damaging	0.94
R7727:Mboat1	UTSW	13	30226306	missense	probably benign	0.00
R7938:Mboat1	UTSW	13	30231976	missense	possibly damaging	0.53
R8239:Mboat1	UTSW	13	30245350	missense	probably damaging	1.00
Z1177:Mboat1	UTSW	13	30226378	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGTACTGTTATGCCTGCATATGC -3'
(R):5'- GCGGTGGATTCCATAAGGAC -3'

Sequencing Primer
(F):5'- GCATATGCAAAGCAACTTGCAAG -3'
(R):5'- ATTCCATAAGGACATGGGGAGTGTTG -3'

Posted On

2016-09-01