Mutagenetix > Incidental Mutation

Incidental Mutation 'R5407:Mboat7'

426326

Institutional Source

Beutler Lab

Gene Symbol

Mboat7

Ensembl Gene

ENSMUSG00000035596

Gene Name

membrane bound O-acyltransferase domain containing 7

Synonyms

Lpiat1, 5730589L02Rik, mBB1, Leng4

Accession Numbers

Essential gene?

Probably essential (E-score: 0.750) question?

Stock #

R5407 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3680788-3696188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 3694380 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 72 (H72N)

Ref Sequence

ENSEMBL: ENSMUSP00000037107 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038521] [ENSMUST00000038608] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000118710] [ENSMUST00000123088] [ENSMUST00000128364] [ENSMUST00000206343] [ENSMUST00000205287] [ENSMUST00000205734] [ENSMUST00000142713] [ENSMUST00000127106] [ENSMUST00000155060] [ENSMUST00000137204] [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: H72N

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

SMART Domains

Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: H72N

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

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: ENSMUST00000123088

SMART Domains

Protein: ENSMUSP00000123614
Gene: ENSMUSG00000035585

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150684

Predicted Effect

probably damaging
Transcript: ENSMUST00000128364
AA Change: H24N

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596
AA Change: H24N

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

unknown
Transcript: ENSMUST00000206343
AA Change: P41Q

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131688

Predicted Effect

probably benign
Transcript: ENSMUST00000205287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150785

Predicted Effect

probably benign
Transcript: ENSMUST00000205734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139396

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

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: 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: 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: ENSMUST00000137204

SMART Domains

Protein: ENSMUSP00000120403
Gene: ENSMUSG00000035585

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000206379
AA Change: H72N

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206448

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm4	T	C	4: 144,396,895 (GRCm39)	K279R	probably benign	Het
Aldoart2	A	C	12: 55,612,981 (GRCm39)	Y302S	probably damaging	Het
Arpp21	G	T	9: 111,945,821 (GRCm39)		probably benign	Het
Camk1g	C	T	1: 193,029,680 (GRCm39)		probably null	Het
Cand2	G	A	6: 115,762,161 (GRCm39)	V196I	possibly damaging	Het
Cdc25b	T	A	2: 131,035,567 (GRCm39)	L381Q	probably damaging	Het
Col17a1	C	T	19: 47,654,946 (GRCm39)	G610E	probably damaging	Het
Col19a1	C	T	1: 24,342,575 (GRCm39)	E797K	probably damaging	Het
Col3a1	A	T	1: 45,385,212 (GRCm39)	I110L	probably benign	Het
Col5a2	T	A	1: 45,445,440 (GRCm39)	D506V	possibly damaging	Het
Crp	A	T	1: 172,525,676 (GRCm39)		probably null	Het
Esco1	G	T	18: 10,574,886 (GRCm39)	H729N	probably damaging	Het
Evx2	A	G	2: 74,488,170 (GRCm39)	S217P	probably damaging	Het
Gabrb1	T	C	5: 72,279,364 (GRCm39)	V303A	possibly damaging	Het
Gcnt3	A	G	9: 69,941,471 (GRCm39)	Y366H	probably benign	Het
Gmpr2	A	G	14: 55,915,733 (GRCm39)	T304A	possibly damaging	Het
Golga3	C	T	5: 110,349,856 (GRCm39)	Q656*	probably null	Het
Gramd1b	T	A	9: 40,366,951 (GRCm39)	M6L	probably damaging	Het
Kif17	T	C	4: 138,025,532 (GRCm39)	Y945H	probably damaging	Het
Klhl18	G	C	9: 110,265,195 (GRCm39)	N335K	possibly damaging	Het
Lrrk1	T	A	7: 65,920,545 (GRCm39)	Q1486L	probably benign	Het
Med12l	G	A	3: 59,165,622 (GRCm39)	V1447M	probably damaging	Het
Mrpl3	T	C	9: 104,954,294 (GRCm39)	F333L	probably benign	Het
Nav3	T	C	10: 109,702,796 (GRCm39)	T246A	probably benign	Het
Neil3	A	T	8: 54,054,054 (GRCm39)	V325E	probably benign	Het
Nlrp4g	A	T	9: 124,349,930 (GRCm38)		noncoding transcript	Het
Onecut1	C	T	9: 74,796,738 (GRCm39)	S419F	probably damaging	Het
Or10n1	A	T	9: 39,524,991 (GRCm39)	I43F	probably damaging	Het
Ptp4a1	A	T	1: 30,984,044 (GRCm39)	V58E	probably benign	Het
Radil	C	T	5: 142,493,970 (GRCm39)	R49H	probably damaging	Het
Ralgapa1	T	C	12: 55,723,582 (GRCm39)	E1648G	possibly damaging	Het
Rnft2	C	T	5: 118,380,567 (GRCm39)	M13I	probably damaging	Het
Satb2	A	G	1: 56,987,309 (GRCm39)	L92P	probably damaging	Het
Scn4a	T	C	11: 106,211,715 (GRCm39)	Y1434C	probably damaging	Het
Setx	T	A	2: 29,035,486 (GRCm39)	M657K	probably benign	Het
Shd	A	G	17: 56,280,936 (GRCm39)	E204G	probably damaging	Het
Shh	T	A	5: 28,671,578 (GRCm39)	R62*	probably null	Het
Slc9a4	A	G	1: 40,646,954 (GRCm39)	T483A	probably benign	Het
Tbc1d7	A	C	13: 43,308,178 (GRCm39)	S96A	probably benign	Het
Tfcp2	T	C	15: 100,425,755 (GRCm39)		probably null	Het
Tlk2	T	A	11: 105,131,201 (GRCm39)	S182R	probably damaging	Het
Tppp2	A	G	14: 52,156,955 (GRCm39)		probably null	Het
Trim65	T	C	11: 116,016,906 (GRCm39)	T519A	probably benign	Het
Trio	T	C	15: 27,844,892 (GRCm39)		probably null	Het
Usf3	G	A	16: 44,037,769 (GRCm39)	V750I	probably benign	Het
Utrn	T	A	10: 12,556,369 (GRCm39)	K1480N	probably damaging	Het
Vmn1r58	T	A	7: 5,413,872 (GRCm39)	R119S	probably benign	Het
Xirp2	A	G	2: 67,341,313 (GRCm39)	I1185V	probably benign	Het
Zc3h7b	A	G	15: 81,670,092 (GRCm39)	H654R	probably damaging	Het
Zfyve16	G	T	13: 92,636,792 (GRCm39)	A1306E	probably damaging	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
R1649:Mboat7	UTSW	7	3,688,817 (GRCm39)	missense	probably benign	0.06
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
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'- CCCTACTATGAGAAAGTCTGGGAG -3'
(R):5'- AGCTTCTCTTAATGCCGGTC -3'

Sequencing Primer
(F):5'- GAAAGCAAGGAGGCTCCCC -3'
(R):5'- AATGCCGGTCATTCTTTTCTTATC -3'

Posted On

2016-09-01