Mutagenetix > Incidental Mutation

Incidental Mutation 'R1649:Mboat7'

174097

Institutional Source

Beutler Lab

Gene Symbol

Mboat7

Ensembl Gene

ENSMUSG00000035596

Gene Name

membrane bound O-acyltransferase domain containing 7

Synonyms

Lpiat1, 5730589L02Rik, mBB1, Leng4

MMRRC Submission

039685-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.801) question?

Stock #

R1649 (G1)

Quality Score

132

Status

Not validated

Chromosome

Chromosomal Location

3680788-3696188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3688817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 237 (V237D)

Ref Sequence

ENSEMBL: ENSMUSP00000037107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038608] [ENSMUST00000118710] [ENSMUST00000127106] [ENSMUST00000128364] [ENSMUST00000206571] [ENSMUST00000206343] [ENSMUST00000206379]

AlphaFold

Q8CHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000038608
AA Change: V237D

PolyPhen 2 Score 0.059 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: V237D

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
Pfam:MBOAT	57	420	2.4e-37	PFAM
transmembrane domain	425	447	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000118710

SMART Domains

Protein: ENSMUSP00000112710
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC
transmembrane domain	35	57	N/A	INTRINSIC
Pfam:MBOAT	86	343	1.5e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127106

SMART Domains

Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
transmembrane domain	5	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000128364

SMART Domains

Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
low complexity region	32	46	N/A	INTRINSIC
low complexity region	58	67	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133223

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150684

Predicted Effect

probably benign
Transcript: ENSMUST00000206571
AA Change: V4D

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205644

Predicted Effect

probably benign
Transcript: ENSMUST00000206343

Predicted Effect

probably benign
Transcript: ENSMUST00000206379

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150785

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 88.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the membrane-bound O-acyltransferases family of integral membrane proteins that have acyltransferase activity. The encoded protein is a lysophosphatidylinositol acyltransferase that has specificity for arachidonoyl-CoA as an acyl donor. This protein is involved in the reacylation of phospholipids as part of the phospholipid remodeling pathway known as the Land cycle. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2009]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit hydrocephaly and most die between 1-3 months of age. Mice homozygous for a knock-out allele exhibit partial lethality with decreased body size, decreased forebrain size, delayed neuronal migrationand reduced neurite outgrowth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1a1	T	A	4: 116,495,217 (GRCm39)	I261F	probably damaging	Het
Aldh1l1	T	C	6: 90,541,371 (GRCm39)	V255A	probably benign	Het
Ambn	T	A	5: 88,612,340 (GRCm39)	M172K	probably benign	Het
Arhgef18	A	G	8: 3,439,094 (GRCm39)		probably benign	Het
BC034090	T	C	1: 155,101,319 (GRCm39)	H315R	possibly damaging	Het
Btaf1	T	A	19: 36,959,122 (GRCm39)	D707E	probably benign	Het
C6	T	C	15: 4,764,739 (GRCm39)	L145P	possibly damaging	Het
Cav3	T	A	6: 112,449,207 (GRCm39)	L75Q	probably damaging	Het
Cavin2	T	A	1: 51,339,939 (GRCm39)	D205E	probably benign	Het
Cdadc1	T	C	14: 59,811,242 (GRCm39)	T423A	probably damaging	Het
Cep120	A	T	18: 53,857,648 (GRCm39)	H272Q	probably damaging	Het
Chd9	A	T	8: 91,659,229 (GRCm39)	Q63L	possibly damaging	Het
Clspn	T	C	4: 126,460,228 (GRCm39)		probably benign	Het
Cramp1	G	T	17: 25,202,217 (GRCm39)	H422N	probably damaging	Het
Csn1s2b	A	T	5: 87,966,943 (GRCm39)	M71L	probably benign	Het
D630045J12Rik	C	A	6: 38,158,366 (GRCm39)	A1104S	probably damaging	Het
D930048N14Rik	A	G	11: 51,545,663 (GRCm39)		probably benign	Het
Ern2	G	A	7: 121,776,623 (GRCm39)	P366S	probably damaging	Het
Gm1527	T	C	3: 28,952,880 (GRCm39)	I60T	probably damaging	Het
Gse1	T	C	8: 121,305,254 (GRCm39)		probably benign	Het
Ildr1	T	C	16: 36,528,681 (GRCm39)	L42P	probably damaging	Het
Itih2	G	A	2: 10,110,546 (GRCm39)	T515I	probably benign	Het
Jcad	C	A	18: 4,673,309 (GRCm39)	P357Q	probably damaging	Het
Kitl	A	G	10: 99,899,976 (GRCm39)	T94A	probably benign	Het
Klri1	C	T	6: 129,675,204 (GRCm39)	M185I	probably benign	Het
Lsamp	A	T	16: 41,775,661 (GRCm39)	M171L	probably benign	Het
Macf1	T	G	4: 123,377,846 (GRCm39)	I1460L	probably damaging	Het
Map1b	C	G	13: 99,652,986 (GRCm39)	V4L	probably benign	Het
Mctp2	A	T	7: 71,811,006 (GRCm39)	I656K	probably damaging	Het
Ms4a6b	A	G	19: 11,497,806 (GRCm39)	D35G	possibly damaging	Het
Nipsnap2	T	A	5: 129,830,301 (GRCm39)	I205N	probably damaging	Het
Nsd2	T	C	5: 34,011,984 (GRCm39)	V264A	probably damaging	Het
Oacyl	C	T	18: 65,883,167 (GRCm39)	T582I	probably damaging	Het
Olfm1	A	T	2: 28,119,279 (GRCm39)	T333S	possibly damaging	Het
Olfm4	G	A	14: 80,249,422 (GRCm39)	E180K	probably damaging	Het
Or14j6	T	C	17: 38,215,060 (GRCm39)	F208L	probably benign	Het
Or2ad1	A	T	13: 21,326,912 (GRCm39)	L105Q	probably damaging	Het
Or8g17	T	G	9: 38,930,776 (GRCm39)	Q20H	probably benign	Het
Parp4	T	A	14: 56,827,885 (GRCm39)	V212E	possibly damaging	Het
Pcdhb21	T	A	18: 37,648,666 (GRCm39)	N598K	probably damaging	Het
Piezo2	C	A	18: 63,250,743 (GRCm39)	W452L	probably benign	Het
Plec	C	A	15: 76,090,011 (GRCm39)	A110S	possibly damaging	Het
Popdc3	T	C	10: 45,191,320 (GRCm39)	Y144H	probably damaging	Het
Ptgdr	T	C	14: 45,095,959 (GRCm39)	H251R	probably benign	Het
Ptpro	T	A	6: 137,421,015 (GRCm39)	Y246*	probably null	Het
Pyroxd2	T	C	19: 42,726,573 (GRCm39)	D247G	probably damaging	Het
Robo2	T	C	16: 73,695,889 (GRCm39)	E1418G	probably benign	Het
Rtp3	T	C	9: 110,815,772 (GRCm39)	T198A	probably benign	Het
Sec16a	A	T	2: 26,315,536 (GRCm39)	V1767D	probably damaging	Het
Septin14	T	C	5: 129,774,819 (GRCm39)	N119D	probably benign	Het
Serpina5	A	T	12: 104,071,484 (GRCm39)	T364S	possibly damaging	Het
Setd2	A	G	9: 110,378,932 (GRCm39)	S632G	probably benign	Het
Sh3bp2	C	T	5: 34,716,348 (GRCm39)	A253V	possibly damaging	Het
Slc6a5	G	T	7: 49,586,010 (GRCm39)	G443C	probably damaging	Het
Spag9	T	A	11: 93,999,278 (GRCm39)		probably null	Het
Sptbn1	T	C	11: 30,087,301 (GRCm39)	E1033G	probably damaging	Het
Timm17a	T	G	1: 135,237,540 (GRCm39)	Q39P	probably damaging	Het
Tmem26	A	T	10: 68,587,103 (GRCm39)	T184S	probably damaging	Het
Tpi1	A	T	6: 124,789,891 (GRCm39)		probably null	Het
Tssk5	T	C	15: 76,258,003 (GRCm39)	Y118C	possibly damaging	Het
Ttll4	T	A	1: 74,736,629 (GRCm39)	L1118Q	possibly damaging	Het
Ttll5	T	A	12: 85,969,788 (GRCm39)	L691Q	probably damaging	Het
Vmn1r49	A	T	6: 90,049,623 (GRCm39)	H126Q	possibly damaging	Het
Zfp518b	A	T	5: 38,829,224 (GRCm39)	V927E	probably damaging	Het
Zfp618	T	C	4: 63,013,774 (GRCm39)	F213S	probably damaging	Het
Zfp759	T	A	13: 67,287,668 (GRCm39)	N406K	probably benign	Het

Other mutations in Mboat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Mboat7	APN	7	3,694,350 (GRCm39)	missense	probably damaging	1.00
IGL02550:Mboat7	APN	7	3,686,905 (GRCm39)	splice site	probably null
R0013:Mboat7	UTSW	7	3,686,821 (GRCm39)	missense	probably damaging	1.00
R0013:Mboat7	UTSW	7	3,686,821 (GRCm39)	missense	probably damaging	1.00
R0046:Mboat7	UTSW	7	3,686,817 (GRCm39)	missense	probably damaging	1.00
R0046:Mboat7	UTSW	7	3,686,817 (GRCm39)	missense	probably damaging	1.00
R2036:Mboat7	UTSW	7	3,688,671 (GRCm39)	critical splice donor site	probably null
R2091:Mboat7	UTSW	7	3,687,010 (GRCm39)	unclassified	probably benign
R3031:Mboat7	UTSW	7	3,681,687 (GRCm39)	missense	probably benign
R4200:Mboat7	UTSW	7	3,688,752 (GRCm39)	missense	possibly damaging	0.56
R4382:Mboat7	UTSW	7	3,691,545 (GRCm39)	missense	possibly damaging	0.53
R5407:Mboat7	UTSW	7	3,694,380 (GRCm39)	missense	probably damaging	1.00
R6181:Mboat7	UTSW	7	3,686,884 (GRCm39)	missense	probably benign	0.44
R6785:Mboat7	UTSW	7	3,688,835 (GRCm39)	missense	probably benign	0.42
RF013:Mboat7	UTSW	7	3,694,856 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AATACGCTGCCAACCACTGCTG -3'
(R):5'- ACCTACCTGGATTGGCTGGAACAG -3'

Sequencing Primer
(F):5'- TTCCCTACTAGGGGCAGAG -3'
(R):5'- ATTGGCTGGAACAGCCCTTC -3'

Posted On

2014-04-24