Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02234:Mboat7'

285858

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02234

Quality Score

Status

Chromosome

Chromosomal Location

3680788-3696188 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3694350 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 34 (Y34H)

Ref Sequence

ENSEMBL: ENSMUSP00000120521 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038521] [ENSMUST00000038608] [ENSMUST00000108627] [ENSMUST00000108629] [ENSMUST00000108630] [ENSMUST00000118710] [ENSMUST00000123088] [ENSMUST00000206343] [ENSMUST00000128364] [ENSMUST00000205734] [ENSMUST00000205287] [ENSMUST00000127106] [ENSMUST00000142713] [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: Y82H

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

SMART Domains

Protein: ENSMUSP00000037107
Gene: ENSMUSG00000035596
AA Change: Y82H

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

unknown
Transcript: ENSMUST00000206343
AA Change: L51P

Predicted Effect

probably damaging
Transcript: ENSMUST00000128364
AA Change: Y34H

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

SMART Domains

Protein: ENSMUSP00000120521
Gene: ENSMUSG00000035596
AA Change: Y34H

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: ENSMUST00000205734

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150684

Predicted Effect

probably benign
Transcript: ENSMUST00000205287

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131688

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205644

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139396

Predicted Effect

probably benign
Transcript: ENSMUST00000147288

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150785

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: 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: 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: Y82H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206448

Predicted Effect

probably benign
Transcript: ENSMUST00000206571

Coding Region Coverage

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	C	T	6: 121,645,179 (GRCm39)	T1010M	possibly damaging	Het
Atr	A	G	9: 95,829,303 (GRCm39)		probably benign	Het
Cdc42bpa	A	T	1: 179,978,756 (GRCm39)	K1585*	probably null	Het
Cdh19	T	C	1: 110,859,956 (GRCm39)	D175G	probably damaging	Het
Celsr3	G	T	9: 108,707,159 (GRCm39)	R1214L	probably benign	Het
Chchd1	T	C	14: 20,753,478 (GRCm39)		probably null	Het
Col4a1	T	C	8: 11,266,713 (GRCm39)	K1165E	probably damaging	Het
Col6a4	A	G	9: 105,890,631 (GRCm39)	F1888L	possibly damaging	Het
Csmd3	C	A	15: 47,811,512 (GRCm39)	R1193L	probably damaging	Het
Cyp2d11	T	A	15: 82,274,340 (GRCm39)	H347L	probably benign	Het
Cyp4f13	A	G	17: 33,143,748 (GRCm39)		probably benign	Het
Dop1b	T	C	16: 93,549,039 (GRCm39)	V193A	probably benign	Het
Dus4l	T	C	12: 31,691,495 (GRCm39)		probably benign	Het
Epc1	G	A	18: 6,439,938 (GRCm39)	H79Y	probably damaging	Het
Gm12588	T	A	11: 121,799,151 (GRCm39)			Het
Gpr107	T	C	2: 31,067,845 (GRCm39)	Y222H	probably damaging	Het
Gzmn	C	T	14: 56,406,464 (GRCm39)		probably null	Het
Helq	A	G	5: 100,944,336 (GRCm39)	I258T	possibly damaging	Het
Hsp90ab1	T	C	17: 45,880,661 (GRCm39)	K137R	probably benign	Het
Htr1f	T	A	16: 64,746,430 (GRCm39)	R287S	probably damaging	Het
Il20ra	A	C	10: 19,625,018 (GRCm39)	D99A	probably damaging	Het
Lpp	C	T	16: 24,580,895 (GRCm39)	R204W	probably damaging	Het
Mid2	T	C	X: 139,664,418 (GRCm39)	S646P	probably damaging	Het
Msh6	T	C	17: 88,294,229 (GRCm39)	S995P	probably damaging	Het
Mtmr10	A	G	7: 63,949,350 (GRCm39)	I108V	probably benign	Het
Muc6	G	A	7: 141,226,842 (GRCm39)	T1395M	probably benign	Het
Nlrp4f	A	G	13: 65,342,302 (GRCm39)	F448L	probably damaging	Het
Odc1	C	A	12: 17,598,621 (GRCm39)	D220E	possibly damaging	Het
Or8k33	T	C	2: 86,383,610 (GRCm39)	N286S	probably damaging	Het
Pax7	A	G	4: 139,555,901 (GRCm39)	I189T	probably damaging	Het
Pcdh12	T	A	18: 38,416,588 (GRCm39)	H179L	probably damaging	Het
Pcdh15	A	T	10: 74,467,694 (GRCm39)	M1836L	probably benign	Het
Psmc5	T	C	11: 106,153,836 (GRCm39)	V390A	probably benign	Het
Ror2	C	T	13: 53,264,764 (GRCm39)	S764N	probably damaging	Het
Rpgrip1	A	G	14: 52,368,766 (GRCm39)		probably benign	Het
Sema5a	C	T	15: 32,679,318 (GRCm39)	R866C	probably damaging	Het
Stox2	A	G	8: 47,646,647 (GRCm39)	F271S	probably damaging	Het
Tpgs2	T	C	18: 25,282,301 (GRCm39)		probably null	Het
Ttll8	T	A	15: 88,798,252 (GRCm39)	I828F	possibly damaging	Het
Vmn1r7	T	C	6: 57,001,537 (GRCm39)	Y241C	probably damaging	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Mboat7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2015-04-16