Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00754:Mboat4'

11918

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mboat4

Ensembl Gene

ENSMUSG00000071113

Gene Name

membrane bound O-acyltransferase domain containing 4

Synonyms

LOC234155, GOAT

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00754

Quality Score

Status

Chromosome

Chromosomal Location

34582184-34592336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 34591708 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 382 (T382A)

Ref Sequence

ENSEMBL: ENSMUSP00000092988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095345]

AlphaFold

P0C7A3

Predicted Effect

probably benign
Transcript: ENSMUST00000095345
AA Change: T382A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000092988
Gene: ENSMUSG00000071113
AA Change: T382A

Domain	Start	End	E-Value	Type
transmembrane domain	15	32	N/A	INTRINSIC
transmembrane domain	41	63	N/A	INTRINSIC
Pfam:MBOAT	80	396	2.3e-14	PFAM
transmembrane domain	405	427	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210178

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for null mutations lack the mature form of ghrelin in the plasma and display abnormal responses to changes in diet. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahi1	G	A	10: 20,848,040 (GRCm39)	G483R	probably damaging	Het
Ano1	T	C	7: 144,150,968 (GRCm39)	I816V	probably damaging	Het
Aprt	T	C	8: 123,302,232 (GRCm39)	Q77R	probably benign	Het
Bcas3	T	A	11: 85,386,649 (GRCm39)		probably benign	Het
Casp8ap2	A	G	4: 32,641,036 (GRCm39)	M697V	probably benign	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Chrnd	A	C	1: 87,123,506 (GRCm39)	E348A	probably benign	Het
Ctnnbl1	A	T	2: 157,661,461 (GRCm39)	S324C	possibly damaging	Het
Dgkb	C	A	12: 38,488,567 (GRCm39)	N644K	probably benign	Het
Dnajc13	A	T	9: 104,051,697 (GRCm39)	L1720*	probably null	Het
Ehbp1	A	G	11: 22,197,967 (GRCm39)		probably benign	Het
Eif1b	G	T	9: 120,323,686 (GRCm39)	C94F	probably benign	Het
Fmnl3	G	A	15: 99,220,551 (GRCm39)	T577I	probably damaging	Het
Gm28042	G	A	2: 119,860,837 (GRCm39)	G96R	probably damaging	Het
Hcrtr1	A	G	4: 130,031,026 (GRCm39)	V86A	probably damaging	Het
Klrc3	A	T	6: 129,618,389 (GRCm39)	S131R	probably damaging	Het
Oosp1	A	T	19: 11,645,069 (GRCm39)	H198Q	possibly damaging	Het
Parp14	T	C	16: 35,659,741 (GRCm39)	D1627G	probably benign	Het
Pdcd11	T	A	19: 47,092,221 (GRCm39)	F406I	possibly damaging	Het
Ppara	T	C	15: 85,661,843 (GRCm39)	L28S	probably damaging	Het
Samd3	A	G	10: 26,120,425 (GRCm39)	T140A	probably benign	Het
Sf3b1	A	G	1: 55,026,645 (GRCm39)	F1255L	probably damaging	Het
Stard6	T	A	18: 70,616,559 (GRCm39)	S73T	probably benign	Het
Tnip2	T	C	5: 34,656,643 (GRCm39)	I221V	probably benign	Het
Ttn	A	G	2: 76,612,429 (GRCm39)	I8859T	possibly damaging	Het
Ube3b	T	C	5: 114,553,348 (GRCm39)	S907P	possibly damaging	Het
Utp25	G	T	1: 192,797,309 (GRCm39)	N514K	probably damaging	Het
Utrn	A	G	10: 12,539,236 (GRCm39)	V1927A	probably benign	Het
Zfp945	T	C	17: 23,070,931 (GRCm39)		probably benign	Het

Other mutations in Mboat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02738:Mboat4	APN	8	34,582,258 (GRCm39)	missense	probably damaging	0.99
R0029:Mboat4	UTSW	8	34,587,363 (GRCm39)	missense	probably damaging	0.99
R4630:Mboat4	UTSW	8	34,591,108 (GRCm39)	missense	probably damaging	1.00
R5249:Mboat4	UTSW	8	34,582,275 (GRCm39)	missense	probably benign	0.02
R6736:Mboat4	UTSW	8	34,591,675 (GRCm39)	missense	possibly damaging	0.64
R6920:Mboat4	UTSW	8	34,591,865 (GRCm39)	missense	probably benign	0.09
R7142:Mboat4	UTSW	8	34,587,291 (GRCm39)	missense	probably benign	0.00
R7520:Mboat4	UTSW	8	34,591,028 (GRCm39)	missense	probably benign	0.04
R7540:Mboat4	UTSW	8	34,591,178 (GRCm39)	missense	probably damaging	0.99
R9126:Mboat4	UTSW	8	34,582,348 (GRCm39)	missense	probably benign	0.01
X0067:Mboat4	UTSW	8	34,591,844 (GRCm39)	nonsense	probably null

Posted On

2012-12-06