Mutagenetix > Incidental Mutation

Incidental Mutation 'R6956:Mboat1'

541473

Institutional Source

Beutler Lab

Gene Symbol

Mboat1

Ensembl Gene

ENSMUSG00000038732

Gene Name

membrane bound O-acyltransferase domain containing 1

Synonyms

9130215M02Rik, Oact1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6956 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30136489-30246717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30238076 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 396 (V396A)

Ref Sequence

ENSEMBL: ENSMUSP00000045441 (fasta)

Gene Model

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

AlphaFold

Q8BH98

Predicted Effect

possibly damaging
Transcript: ENSMUST00000047311
AA Change: V396A

PolyPhen 2 Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045441
Gene: ENSMUSG00000038732
AA Change: V396A

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: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.7%

Validation Efficiency

100% (43/43)

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921530L21Rik	T	A	14: 95,882,433	W209R	probably damaging	Het
Aars	G	A	8: 111,055,130	V945M	probably benign	Het
Amotl2	A	G	9: 102,724,768	T371A	probably damaging	Het
Bmpr1a	A	G	14: 34,441,175	I86T	possibly damaging	Het
C9	A	T	15: 6,445,464	M35L	probably benign	Het
Cc2d1a	G	T	8: 84,135,899	P661T	probably damaging	Het
Dcdc2a	T	A	13: 25,119,366	S293R	probably benign	Het
Dchs2	T	A	3: 83,353,926	N2500K	probably benign	Het
Dicer1	A	G	12: 104,731,023	S92P	probably damaging	Het
Dnah7a	T	A	1: 53,577,287	I1172F	probably benign	Het
Dnajc6	A	G	4: 101,614,273	S364G	probably damaging	Het
Dpp6	A	T	5: 27,598,821	N255I	probably damaging	Het
Eif2ak4	T	C	2: 118,422,267	I440T	probably damaging	Het
Fam155a	T	A	8: 9,770,744	Q92L	probably benign	Het
Fam184b	T	C	5: 45,530,757	T937A	probably damaging	Het
Fam229b	T	A	10: 39,133,847		probably null	Het
Gbp11	A	G	5: 105,328,375		probably null	Het
Gipc2	A	G	3: 152,094,248	F282L	probably benign	Het
Gm4858	T	C	3: 93,073,972	V25A	possibly damaging	Het
Gpt2	G	A	8: 85,518,052	E325K	probably benign	Het
H2-T3	T	A	17: 36,189,371	Y144F	probably damaging	Het
Kel	T	G	6: 41,687,973	D7A	probably damaging	Het
Lrrc7	A	G	3: 158,289,031	V166A	probably benign	Het
Mapt	T	C	11: 104,318,255		probably null	Het
March3	A	G	18: 56,775,981	V244A	probably benign	Het
Mphosph9	T	C	5: 124,297,558	D604G	probably damaging	Het
Muc16	T	C	9: 18,645,026	T3324A	unknown	Het
Nat10	T	C	2: 103,734,412	I495V	probably benign	Het
Olfr784	A	T	10: 129,388,297	K221N	probably benign	Het
Pfkfb2	T	C	1: 130,707,600	N75D	probably damaging	Het
Psmd3	T	A	11: 98,695,551	L515Q	probably damaging	Het
Rpgrip1l	A	C	8: 91,286,313		probably null	Het
Scube1	T	C	15: 83,721,876	Y65C	probably damaging	Het
Slc12a4	A	G	8: 105,953,852	F211L	probably damaging	Het
Socs7	T	C	11: 97,377,023	S327P	probably benign	Het
Spef2	A	T	15: 9,684,935	D591E	probably damaging	Het
Sult2a6	T	A	7: 14,254,823	D4V	possibly damaging	Het
Tdrd9	A	G	12: 112,036,354		probably benign	Het
Tgm4	G	T	9: 123,064,703	M155I	possibly damaging	Het
Togaram2	T	C	17: 71,729,188	V891A	probably benign	Het
Usp1	A	G	4: 98,931,006	E235G	probably damaging	Het
Usp2	T	A	9: 44,092,756	V533E	probably damaging	Het
Vcan	T	A	13: 89,689,431	I2665F	probably damaging	Het
Vmn2r31	G	A	7: 7,394,506	S251L	probably benign	Het
Vmn2r84	C	A	10: 130,389,267	C458F	probably 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
R5429:Mboat1	UTSW	13	30219667	missense	probably benign	0.02
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
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
R8872:Mboat1	UTSW	13	30226414	missense	probably damaging	1.00
R9248:Mboat1	UTSW	13	30226409	missense	probably damaging	1.00
Z1177:Mboat1	UTSW	13	30226378	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGGACTTCAGTGTGGTCTGC -3'
(R):5'- GAAGGAAGTTATCACTCGGCATC -3'

Sequencing Primer
(F):5'- TCAGTGTGGTCTGCCCGAAG -3'
(R):5'- GAAGTTATCACTCGGCATCAAAAAG -3'

Posted On

2018-11-28