Mutagenetix > Incidental Mutation

Incidental Mutation 'R8239:Mboat1'

637519

Institutional Source

Beutler Lab

Gene Symbol

Mboat1

Ensembl Gene

ENSMUSG00000038732

Gene Name

membrane bound O-acyltransferase domain containing 1

Synonyms

9130215M02Rik, Oact1

MMRRC Submission

067646-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8239 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

30320499-30430677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30429333 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 454 (S454P)

Ref Sequence

ENSEMBL: ENSMUSP00000045441 (fasta)

Gene Model

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

AlphaFold

Q8BH98

Predicted Effect

probably damaging
Transcript: ENSMUST00000047311
AA Change: S454P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: S454P

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.5%
20x: 98.9%

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	C	8: 41,278,106 (GRCm39)	S166P	probably damaging	Het
Appl1	T	A	14: 26,686,914 (GRCm39)	T19S	probably damaging	Het
Arid4b	T	A	13: 14,344,594 (GRCm39)	D557E	probably benign	Het
Aven	C	T	2: 112,390,120 (GRCm39)	R8W	probably benign	Het
C2cd2l	T	C	9: 44,227,502 (GRCm39)	E307G	possibly damaging	Het
Cdh20	A	C	1: 110,027,832 (GRCm39)	T526P	probably benign	Het
Dchs1	C	T	7: 105,414,718 (GRCm39)	V775M	probably benign	Het
Dennd1b	A	G	1: 138,969,673 (GRCm39)	N63S	probably benign	Het
Dtnb	A	T	12: 3,694,056 (GRCm39)	Y248F	unknown	Het
Ehbp1l1	T	A	19: 5,770,089 (GRCm39)	T405S	possibly damaging	Het
Fam149a	A	G	8: 45,803,490 (GRCm39)	Y415H	possibly damaging	Het
Fam186a	A	G	15: 99,839,191 (GRCm39)	L2351P	unknown	Het
Fsip2	T	G	2: 82,819,687 (GRCm39)	I5140S	possibly damaging	Het
Gm8674	T	C	13: 50,054,262 (GRCm39)	T749A	noncoding transcript	Het
Kalrn	A	G	16: 33,870,153 (GRCm39)	V1894A	noncoding transcript	Het
Kpna3	A	T	14: 61,624,919 (GRCm39)	N141K	probably damaging	Het
Lrba	G	A	3: 86,449,882 (GRCm39)	G2067D	probably damaging	Het
Lrp2	G	T	2: 69,311,611 (GRCm39)	Y2622*	probably null	Het
Lrtm2	A	C	6: 119,297,778 (GRCm39)	F88V	probably damaging	Het
Nkpd1	C	T	7: 19,253,753 (GRCm39)	P40S	probably benign	Het
Or2b7	T	C	13: 21,739,788 (GRCm39)	I135V	probably benign	Het
Or4a76	T	A	2: 89,460,907 (GRCm39)	I112F	probably damaging	Het
Or8b54	G	A	9: 38,686,577 (GRCm39)	V9M	noncoding transcript	Het
Or8k27	C	A	2: 86,275,473 (GRCm39)	M284I	noncoding transcript	Het
Patj	A	G	4: 98,570,308 (GRCm39)	E1711G	possibly damaging	Het
Pcdha4	A	T	18: 37,086,128 (GRCm39)	I104F	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Plekhg4	C	T	8: 106,107,546 (GRCm39)	R990*	probably null	Het
Pphln1	T	C	15: 93,386,930 (GRCm39)	S343P	probably benign	Het
Pram1	A	T	17: 33,860,241 (GRCm39)	K269N	probably damaging	Het
Psmd13	T	A	7: 140,466,450 (GRCm39)	I79K	probably damaging	Het
Ptprf	T	C	4: 118,069,309 (GRCm39)	D1586G	possibly damaging	Het
Ptprh	T	A	7: 4,584,090 (GRCm39)	Q167H	probably damaging	Het
Rbm46	C	T	3: 82,772,775 (GRCm39)	R119Q	probably benign	Het
Rreb1	T	C	13: 38,077,848 (GRCm39)	M20T	probably damaging	Het
Scrn2	T	G	11: 96,923,046 (GRCm39)	L163R	probably damaging	Het
Slc36a3	C	T	11: 55,022,433 (GRCm39)	V254I	probably benign	Het
Slc6a6	T	C	6: 91,701,951 (GRCm39)	F120L	probably benign	Het
Slc8a2	A	T	7: 15,879,230 (GRCm39)	H572L	probably benign	Het
Spats2	T	A	15: 99,106,776 (GRCm39)	D357E	probably damaging	Het
Speg	A	T	1: 75,395,677 (GRCm39)	N1816I	probably damaging	Het
Sult2b1	A	G	7: 45,433,361 (GRCm39)	V2A	unknown	Het
Susd3	T	C	13: 49,384,731 (GRCm39)	T231A	probably benign	Het
Tamalin	C	T	15: 101,128,902 (GRCm39)	L217F	probably damaging	Het
Tcp1	A	G	17: 13,139,738 (GRCm39)	D261G	probably benign	Het
Trpm2	C	G	10: 77,771,836 (GRCm39)	S601T	probably benign	Het
Ugt2b38	A	T	5: 87,571,659 (GRCm39)	F124L	probably benign	Het
Unc80	G	T	1: 66,693,178 (GRCm39)	E2522D	probably benign	Het
Usp34	A	G	11: 23,396,750 (GRCm39)	T2365A		Het
Vmn2r92	G	T	17: 18,405,278 (GRCm39)	M807I	probably benign	Het
Vps13b	C	A	15: 35,597,550 (GRCm39)	P1030Q	probably damaging	Het
Wrn	T	G	8: 33,819,213 (GRCm39)	K246N	probably damaging	Het
Zer1	T	A	2: 29,991,147 (GRCm39)		probably null	Het

Other mutations in Mboat1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Mboat1	APN	13	30,379,776 (GRCm39)	splice site	probably benign
IGL01331:Mboat1	APN	13	30,403,684 (GRCm39)	splice site	probably benign
IGL01837:Mboat1	APN	13	30,425,166 (GRCm39)	missense	possibly damaging	0.72
IGL02070:Mboat1	APN	13	30,408,380 (GRCm39)	missense	probably benign	0.02
IGL03338:Mboat1	APN	13	30,320,742 (GRCm39)	missense	probably benign	0.01
langsat	UTSW	13	30,386,358 (GRCm39)	missense	probably benign	0.37
R0201:Mboat1	UTSW	13	30,386,358 (GRCm39)	missense	probably benign	0.37
R0322:Mboat1	UTSW	13	30,416,063 (GRCm39)	splice site	probably benign
R0448:Mboat1	UTSW	13	30,386,393 (GRCm39)	missense	probably damaging	1.00
R1793:Mboat1	UTSW	13	30,403,633 (GRCm39)	missense	probably damaging	0.99
R2040:Mboat1	UTSW	13	30,425,300 (GRCm39)	critical splice donor site	probably null
R3054:Mboat1	UTSW	13	30,379,724 (GRCm39)	missense	probably benign
R3122:Mboat1	UTSW	13	30,422,031 (GRCm39)	missense	probably damaging	1.00
R4948:Mboat1	UTSW	13	30,425,213 (GRCm39)	missense	probably damaging	1.00
R4958:Mboat1	UTSW	13	30,408,376 (GRCm39)	missense	probably damaging	1.00
R4992:Mboat1	UTSW	13	30,386,343 (GRCm39)	missense	possibly damaging	0.80
R5429:Mboat1	UTSW	13	30,403,650 (GRCm39)	missense	probably benign	0.02
R5862:Mboat1	UTSW	13	30,419,680 (GRCm39)	missense	probably damaging	1.00
R6025:Mboat1	UTSW	13	30,408,509 (GRCm39)	missense	probably benign
R6352:Mboat1	UTSW	13	30,386,403 (GRCm39)	missense	possibly damaging	0.59
R6956:Mboat1	UTSW	13	30,422,059 (GRCm39)	missense	possibly damaging	0.89
R7088:Mboat1	UTSW	13	30,379,772 (GRCm39)	critical splice donor site	probably null
R7165:Mboat1	UTSW	13	30,408,398 (GRCm39)	missense	probably damaging	1.00
R7366:Mboat1	UTSW	13	30,386,345 (GRCm39)	missense	possibly damaging	0.94
R7727:Mboat1	UTSW	13	30,410,289 (GRCm39)	missense	probably benign	0.00
R7938:Mboat1	UTSW	13	30,415,959 (GRCm39)	missense	possibly damaging	0.53
R8872:Mboat1	UTSW	13	30,410,397 (GRCm39)	missense	probably damaging	1.00
R9248:Mboat1	UTSW	13	30,410,392 (GRCm39)	missense	probably damaging	1.00
Z1177:Mboat1	UTSW	13	30,410,361 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCACAGGCAATTCTCTTGGTC -3'
(R):5'- CCTTGAGCCTGTCCGTTATG -3'

Sequencing Primer
(F):5'- CAGGCAATTCTCTTGGTCTGATCATG -3'
(R):5'- GAGCCTGTCCGTTATGTCTTC -3'

Posted On

2020-07-13