Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03338:Mboat1'

417123

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mboat1

Ensembl Gene

ENSMUSG00000038732

Gene Name

membrane bound O-acyltransferase domain containing 1

Synonyms

9130215M02Rik, Oact1

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03338

Quality Score

Status

Chromosome

Chromosomal Location

30320499-30430677 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 30320742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 31 (D31E)

Ref Sequence

ENSEMBL: ENSMUSP00000045441 (fasta)

Gene Model

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

AlphaFold

Q8BH98

Predicted Effect

probably benign
Transcript: ENSMUST00000047311
AA Change: D31E

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: D31E

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: ENSMUST00000153269

Coding Region Coverage

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	G	A	5: 8,744,153 (GRCm39)	V260M	probably damaging	Het
Accsl	T	A	2: 93,686,092 (GRCm39)	H575L	probably benign	Het
Armc3	A	T	2: 19,253,512 (GRCm39)	I218F	possibly damaging	Het
Bora	C	A	14: 99,310,178 (GRCm39)	N502K	probably damaging	Het
Brd4	T	A	17: 32,432,046 (GRCm39)	D606V	probably damaging	Het
Ccdc190	T	A	1: 169,757,544 (GRCm39)	M1K	probably null	Het
Ccl25	T	C	8: 4,399,898 (GRCm39)		probably benign	Het
Cep78	G	T	19: 15,936,987 (GRCm39)	T573K	probably damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Cntn4	C	T	6: 106,632,550 (GRCm39)	H525Y	probably damaging	Het
D630039A03Rik	T	C	4: 57,910,509 (GRCm39)	E101G	probably benign	Het
Dnah2	A	G	11: 69,387,403 (GRCm39)	V941A	probably benign	Het
Exoc6b	A	G	6: 84,821,112 (GRCm39)	I559T	probably damaging	Het
Fmr1	T	C	X: 67,731,942 (GRCm39)		probably null	Het
Ghr	A	T	15: 3,377,024 (GRCm39)	C66S	probably damaging	Het
Hook1	C	A	4: 95,886,929 (GRCm39)		probably benign	Het
Igsf1	T	C	X: 48,876,376 (GRCm39)	T73A	probably benign	Het
Ipo8	T	C	6: 148,701,755 (GRCm39)	K451R	probably benign	Het
Irs1	A	G	1: 82,266,122 (GRCm39)	V698A	probably benign	Het
Kat2a	T	C	11: 100,602,301 (GRCm39)	D151G	probably benign	Het
Lyrm1	A	T	7: 119,513,469 (GRCm39)	Q78L	probably benign	Het
Madd	C	T	2: 90,992,507 (GRCm39)	G1012E	possibly damaging	Het
Myh8	C	A	11: 67,189,172 (GRCm39)	A1116D	probably damaging	Het
Nop2	G	A	6: 125,116,695 (GRCm39)		probably null	Het
Notch1	A	G	2: 26,349,971 (GRCm39)	S2390P	probably benign	Het
Or10ag57	T	G	2: 87,218,470 (GRCm39)	N140K	probably benign	Het
Or52z14	T	A	7: 103,253,615 (GRCm39)	C251*	probably null	Het
Or6c66b	A	G	10: 129,376,925 (GRCm39)	D173G	probably damaging	Het
Pigg	T	C	5: 108,467,816 (GRCm39)	S272P	probably damaging	Het
Plg	A	G	17: 12,637,959 (GRCm39)	Y795C	probably damaging	Het
Polr3e	A	G	7: 120,536,843 (GRCm39)	K335R	probably benign	Het
Pramel13	T	A	4: 144,121,397 (GRCm39)	Y209F	probably benign	Het
Pramel24	T	C	4: 143,453,312 (GRCm39)	I140T	probably benign	Het
Pramel28	T	C	4: 143,692,411 (GRCm39)	I197V	probably benign	Het
Pramel28	T	A	4: 143,692,608 (GRCm39)	Q131L	probably benign	Het
Prdm4	A	T	10: 85,743,685 (GRCm39)	M190K	possibly damaging	Het
Prex2	T	A	1: 11,210,489 (GRCm39)	F597L	probably benign	Het
Ranbp3l	A	G	15: 9,060,940 (GRCm39)	E403G	probably damaging	Het
Rgmb	C	T	17: 16,027,565 (GRCm39)	A385T	possibly damaging	Het
Scn4a	T	A	11: 106,211,671 (GRCm39)	I1449F	probably damaging	Het
Slc17a9	T	C	2: 180,382,311 (GRCm39)		probably benign	Het
Slc26a2	T	C	18: 61,331,974 (GRCm39)	I486V	probably damaging	Het
Sntn	A	T	14: 13,678,991 (GRCm38)	D55V	probably damaging	Het
Snx25	T	A	8: 46,498,247 (GRCm39)	R595S	probably benign	Het
Spag11b	C	T	8: 19,191,426 (GRCm39)	T33I	probably damaging	Het
Sval2	A	G	6: 41,841,181 (GRCm39)	I81M	probably damaging	Het
Tab2	A	G	10: 7,795,039 (GRCm39)	V481A	probably damaging	Het
Zfp867	G	A	11: 59,355,003 (GRCm39)	Q109*	probably null	Het
Zfp935	T	C	13: 62,602,247 (GRCm39)	T318A	probably benign	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
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
R8239:Mboat1	UTSW	13	30,429,333 (GRCm39)	missense	probably damaging	1.00
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

Posted On

2016-08-02