Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Mboat7'

603333

Institutional Source

Beutler Lab

Gene Symbol

Mboat7

Ensembl Gene

ENSMUSG00000035596

Gene Name

membrane bound O-acyltransferase domain containing 7

Synonyms

Leng4, mBB1, Lpiat1, 5730589L02Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.817) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3677789-3693523 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3691857 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 52 (H52L)

Ref Sequence

ENSEMBL: ENSMUSP00000037107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038521] [ENSMUST00000038608] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000118710] [ENSMUST00000123088] [ENSMUST00000127106] [ENSMUST00000128364] [ENSMUST00000137204] [ENSMUST00000142713] [ENSMUST00000155060] [ENSMUST00000205287] [ENSMUST00000205734] [ENSMUST00000206343] [ENSMUST00000206379] [ENSMUST00000206571]

AlphaFold

Q8CHK3

Predicted Effect

probably benign
Transcript: ENSMUST00000038521

SMART Domains

Protein: ENSMUSP00000046911
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	219	303	2.9e-24	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000038608
AA Change: H52L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: H52L

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: ENSMUST00000108627

SMART Domains

Protein: ENSMUSP00000104267
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	4.8e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108629

SMART Domains

Protein: ENSMUSP00000104269
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	256	3.7e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108630

SMART Domains

Protein: ENSMUSP00000104270
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC
Pfam:tRNA_int_endo	223	307	7.9e-24	PFAM

Predicted Effect

silent
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: ENSMUST00000123088

SMART Domains

Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127106
AA Change: H52L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000116446
Gene: ENSMUSG00000035596
AA Change: H52L

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000128364
AA Change: H4L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596
AA Change: H4L

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

probably benign
Transcript: ENSMUST00000137204

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	69	85	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142713

SMART Domains

Protein: ENSMUSP00000118440
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

Predicted Effect

probably benign
Transcript: ENSMUST00000155060

SMART Domains

Protein: ENSMUSP00000118816
Gene: ENSMUSG00000035585

Domain	Start	End	E-Value	Type
low complexity region	45	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205287

Predicted Effect

probably benign
Transcript: ENSMUST00000205734

Predicted Effect

silent
Transcript: ENSMUST00000206343

Predicted Effect

probably damaging
Transcript: ENSMUST00000206379
AA Change: H52L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	G	19: 58,789,294 (GRCm38)	F28S	probably damaging	Het
4930435E12Rik	T	C	16: 38,828,001 (GRCm38)	T249A	probably benign	Het
4932438A13Rik	TTAT	TTATTATTATTATTAGTAT	3: 37,050,757 (GRCm38)		probably benign	Het
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,905,096 (GRCm38)		probably benign	Het
Adamts9	A	G	6: 92,943,145 (GRCm38)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,425,232 (GRCm38)		probably benign	Het
Alk	A	G	17: 71,895,936 (GRCm38)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,560,926 (GRCm38)		probably benign	Het
Ano3	A	C	2: 110,697,036 (GRCm38)	L609R	probably benign	Het
Bicc1	A	G	10: 70,935,830 (GRCm38)		probably null	Het
Card6	T	C	15: 5,100,142 (GRCm38)	I591V	probably benign	Het
Ccdc18	A	G	5: 108,220,716 (GRCm38)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 46,736,744 (GRCm38)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,878,597 (GRCm38)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 87,040,432 (GRCm38)		probably benign	Het
Cyp8b1	A	T	9: 121,915,495 (GRCm38)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,397,985 (GRCm38)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,485,831 (GRCm38)		probably benign	Het
Ercc6l2	A	T	13: 63,853,017 (GRCm38)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,475,932 (GRCm38)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,812,895 (GRCm38)		probably benign	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,500,520 (GRCm38)		probably null	Het
Flvcr2	T	A	12: 85,747,186 (GRCm38)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,762,175 (GRCm38)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 72,270,416 (GRCm38)		probably benign	Het
Gm4884	C	A	7: 41,040,809 (GRCm38)	P43Q	probably damaging	Het
Gm6588	T	A	5: 112,450,071 (GRCm38)	N161K	probably benign	Het
Grm8	A	G	6: 27,363,780 (GRCm38)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm38)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,572,343 (GRCm38)		probably benign	Het
Kif18b	T	C	11: 102,912,366 (GRCm38)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,042,135 (GRCm38)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,042,274 (GRCm38)		probably benign	Het
Lama1	C	A	17: 67,781,062 (GRCm38)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 123,369,836 (GRCm38)		probably null	Het
Lmna	A	G	3: 88,484,054 (GRCm38)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,388,260 (GRCm38)		probably null	Het
Med12l	CAG	CAGAAG	3: 59,275,966 (GRCm38)		probably benign	Het
Morc2a	T	A	11: 3,676,191 (GRCm38)	M225K	probably benign	Het
Mpdz	G	A	4: 81,293,592 (GRCm38)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,548,641 (GRCm38)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,898 (GRCm38)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 67,086,356 (GRCm38)		probably null	Het
Myo10	T	A	15: 25,799,479 (GRCm38)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,279,408 (GRCm38)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,209,680 (GRCm38)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,941,032 (GRCm38)		probably benign	Het
Numa1	T	C	7: 101,999,780 (GRCm38)	L906P	probably damaging	Het
Olfr750	G	A	14: 51,071,012 (GRCm38)	A127V	probably damaging	Het
Olfr871	T	C	9: 20,212,894 (GRCm38)	S182P	probably benign	Het
Otop2	G	T	11: 115,323,666 (GRCm38)	R83L	probably benign	Het
Pmm1	T	A	15: 81,957,813 (GRCm38)	Q62L	probably damaging	Het
Pramef25	C	G	4: 143,948,908 (GRCm38)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,471,170 (GRCm38)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,608,941 (GRCm38)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,889,180 (GRCm38)		probably benign	Het
Rsrp1	T	A	4: 134,923,955 (GRCm38)	V10E	unknown	Het
Sh2d6	C	T	6: 72,516,388 (GRCm38)		probably null	Het
Six4	TG	T	12: 73,103,582 (GRCm38)		probably null	Het
Slc6a15	T	A	10: 103,400,216 (GRCm38)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,182,211 (GRCm38)		probably benign	Het
Sost	A	T	11: 101,964,132 (GRCm38)	I117N	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,299,774 (GRCm38)		probably null	Het
Tcaf1	C	T	6: 42,679,173 (GRCm38)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,835,743 (GRCm38)		probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm38)	I15V	unknown	Het
Tmem241	A	T	18: 11,983,561 (GRCm38)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,141,444 (GRCm38)	V100G	probably benign	Het
Trim66	A	G	7: 109,460,753 (GRCm38)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,087,464 (GRCm38)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,169,338 (GRCm38)	V220A	probably benign	Het
Zan	T	A	5: 137,391,720 (GRCm38)	Q4830L	unknown	Het

Other mutations in Mboat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Mboat7	APN	7	3,691,351 (GRCm38)	missense	probably damaging	1.00
IGL02550:Mboat7	APN	7	3,683,906 (GRCm38)	splice site	probably null
R0013:Mboat7	UTSW	7	3,683,822 (GRCm38)	missense	probably damaging	1.00
R0013:Mboat7	UTSW	7	3,683,822 (GRCm38)	missense	probably damaging	1.00
R0046:Mboat7	UTSW	7	3,683,818 (GRCm38)	missense	probably damaging	1.00
R0046:Mboat7	UTSW	7	3,683,818 (GRCm38)	missense	probably damaging	1.00
R1649:Mboat7	UTSW	7	3,685,818 (GRCm38)	missense	probably benign	0.06
R2036:Mboat7	UTSW	7	3,685,672 (GRCm38)	critical splice donor site	probably null
R2091:Mboat7	UTSW	7	3,684,011 (GRCm38)	unclassified	probably benign
R3031:Mboat7	UTSW	7	3,678,688 (GRCm38)	missense	probably benign
R4200:Mboat7	UTSW	7	3,685,753 (GRCm38)	missense	possibly damaging	0.56
R4382:Mboat7	UTSW	7	3,688,546 (GRCm38)	missense	possibly damaging	0.53
R5407:Mboat7	UTSW	7	3,691,381 (GRCm38)	missense	probably damaging	1.00
R6181:Mboat7	UTSW	7	3,683,885 (GRCm38)	missense	probably benign	0.44
R6785:Mboat7	UTSW	7	3,685,836 (GRCm38)	missense	probably benign	0.42

Predicted Primers

PCR Primer
(F):5'- CACATGGATACTGAGGACTGGG -3'
(R):5'- GGCTTCCTCTTTAAGAAAGCTGG -3'

Sequencing Primer
(F):5'- TACTGAGGACTGGGGCAAAGAC -3'
(R):5'- CCTCTTTAAGAAAGCTGGTGAGTCAG -3'

Posted On

2019-12-04