Mutagenetix > Incidental Mutation

Incidental Mutation 'R0029:Mboat4'

44574

Institutional Source

Beutler Lab

Gene Symbol

Mboat4

Ensembl Gene

ENSMUSG00000071113

Gene Name

membrane bound O-acyltransferase domain containing 4

Synonyms

LOC234155, GOAT

MMRRC Submission

038323-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0029 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

34582184-34592336 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 34587363 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Valine at position 87 (F87V)

Ref Sequence

ENSEMBL: ENSMUSP00000092988 (fasta)

Gene Model

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

AlphaFold

P0C7A3

Predicted Effect

probably damaging
Transcript: ENSMUST00000095345
AA Change: F87V

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000092988
Gene: ENSMUSG00000071113
AA Change: F87V

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

Meta Mutation Damage Score

0.4833

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.6%

Validation Efficiency

94% (48/51)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,945,225 (GRCm39)	F434L	probably benign	Het
Abt1	A	T	13: 23,606,678 (GRCm39)	F141Y	possibly damaging	Het
Anapc15-ps	A	G	10: 95,508,857 (GRCm39)	I141T	probably damaging	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Axin2	A	G	11: 108,814,873 (GRCm39)	T254A	probably benign	Het
Ccn4	C	T	15: 66,784,713 (GRCm39)	R129C	probably damaging	Het
Ciz1	A	G	2: 32,261,431 (GRCm39)		probably benign	Het
Cpa4	A	G	6: 30,585,044 (GRCm39)	Y276C	probably damaging	Het
Cpt1a	A	G	19: 3,431,674 (GRCm39)	D698G	probably benign	Het
Crebbp	T	C	16: 3,935,307 (GRCm39)	T861A	probably damaging	Het
Dpy19l2	T	A	9: 24,469,397 (GRCm39)	D753V	probably damaging	Het
Exosc7	A	T	9: 122,948,302 (GRCm39)		probably benign	Het
Fbxw28	T	A	9: 109,157,357 (GRCm39)	D244V	probably damaging	Het
Fgd5	A	G	6: 92,044,539 (GRCm39)	D1260G	probably benign	Het
Gapvd1	T	A	2: 34,568,153 (GRCm39)	I1404F	probably damaging	Het
Gas7	A	G	11: 67,534,163 (GRCm39)	S88G	probably benign	Het
Hk1	T	C	10: 62,151,173 (GRCm39)	D57G	probably damaging	Het
Il23r	A	C	6: 67,455,929 (GRCm39)		probably null	Het
Impg1	T	C	9: 80,305,653 (GRCm39)	D138G	probably damaging	Het
Itga2	G	A	13: 115,007,032 (GRCm39)	S432L	possibly damaging	Het
Kirrel2	A	G	7: 30,152,590 (GRCm39)		probably benign	Het
Lipm	T	C	19: 34,093,948 (GRCm39)		probably benign	Het
Lrpap1	T	C	5: 35,255,021 (GRCm39)	N205S	possibly damaging	Het
Nadsyn1	G	C	7: 143,359,815 (GRCm39)	Q386E	probably benign	Het
Nell1	G	A	7: 49,770,463 (GRCm39)		probably benign	Het
Or5ac25	T	C	16: 59,181,904 (GRCm39)	R226G	probably benign	Het
Or8g35	T	A	9: 39,381,956 (GRCm39)	E22V	probably benign	Het
Pard3	G	T	8: 128,153,239 (GRCm39)		probably benign	Het
Per2	C	A	1: 91,351,434 (GRCm39)	R1024L	possibly damaging	Het
Phf11c	T	C	14: 59,622,364 (GRCm39)	D216G	probably benign	Het
Polk	G	A	13: 96,653,178 (GRCm39)	T74I	probably damaging	Het
Prmt6	T	C	3: 110,157,214 (GRCm39)	I358M	probably benign	Het
Psmb7	T	A	2: 38,523,919 (GRCm39)	H152L	probably damaging	Het
Ralgps1	A	T	2: 33,031,031 (GRCm39)	D498E	probably benign	Het
Slc26a2	G	A	18: 61,335,382 (GRCm39)	P24S	possibly damaging	Het
Slc4a11	A	G	2: 130,529,974 (GRCm39)	F268S	probably damaging	Het
Spmip11	T	C	15: 98,483,190 (GRCm39)		probably null	Het
Stk38	T	C	17: 29,201,112 (GRCm39)	E188G	probably benign	Het
Sulf2	T	C	2: 165,958,893 (GRCm39)	N105S	possibly damaging	Het
Sult2a3	T	A	7: 13,806,999 (GRCm39)	M228L	probably benign	Het
Svil	C	A	18: 5,063,286 (GRCm39)	D852E	probably benign	Het
Tcaf2	A	T	6: 42,607,093 (GRCm39)	L287*	probably null	Het
Tmem132e	A	T	11: 82,335,587 (GRCm39)	I890F	probably damaging	Het
Tmem63a	A	G	1: 180,790,031 (GRCm39)	Y401C	probably benign	Het
Ttn	T	C	2: 76,596,850 (GRCm39)	E20021G	probably damaging	Het
Ubac1	G	T	2: 25,911,455 (GRCm39)	T31N	probably benign	Het
Usp29	T	C	7: 6,964,580 (GRCm39)	L141P	probably damaging	Het
Vmn1r179	A	T	7: 23,628,630 (GRCm39)	I274F	probably benign	Het
Vmn1r204	A	G	13: 22,740,588 (GRCm39)	Y73C	probably benign	Het
Vmn2r2	T	C	3: 64,024,365 (GRCm39)	I739V	probably benign	Het

Other mutations in Mboat4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00754:Mboat4	APN	8	34,591,708 (GRCm39)	missense	probably benign	0.04
IGL02738:Mboat4	APN	8	34,582,258 (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

Predicted Primers

PCR Primer
(F):5'- GGTCCTTGCCACACTGTTCTAAATGTC -3'
(R):5'- AGCCTGTCAAGAAAGCTATTGCCG -3'

Sequencing Primer
(F):5'- CACTGTTCTAAATGTCACTTTGTTG -3'
(R):5'- attgccgctttgtattctttttc -3'

Posted On

2013-06-11