Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00422:Gnpat'

4950

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gnpat

Ensembl Gene

ENSMUSG00000031985

Gene Name

glyceronephosphate O-acyltransferase

Synonyms

D1Ertd819e

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.434) question?

Stock #

IGL00422

Quality Score

Status

Chromosome

Chromosomal Location

124863033-124890057 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 124885013 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 513 (E513G)

Ref Sequence

ENSEMBL: ENSMUSP00000125323 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]

Predicted Effect

probably damaging
Transcript: ENSMUST00000034466
AA Change: E523G

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

SMART Domains

Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985
AA Change: E523G

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
SCOP:d1dbha1	27	146	6e-3	SMART
PlsC	155	284	8.3e-21	SMART
Blast:PlsC	308	336	1e-6	BLAST
low complexity region	638	652	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159864

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161628

Predicted Effect

probably damaging
Transcript: ENSMUST00000161986
AA Change: E513G

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

SMART Domains

Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985
AA Change: E513G

Domain	Start	End	E-Value	Type
low complexity region	5	20	N/A	INTRINSIC
PlsC	145	274	8.3e-21	SMART
Blast:PlsC	298	326	2e-6	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162192

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162455

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 an enzyme located in the peroxisomal membrane which is essential to the synthesis of ether phospholipids. Mutations in this gene are associated with rhizomelic chondrodysplasia punctata. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous mutant mice lack plasmalogens due to inactivation of ether lipid synthesis. Mutant mice exhibit dwarfism, male infertility, defects in eye development, and optic nerve hypoplasia. While some mice die prematurely, others, particularly females, are long-lived. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	C	T	19: 57,068,186	A359T	probably damaging	Het
Ajuba	A	T	14: 54,571,769	Y400*	probably null	Het
Cckar	T	A	5: 53,699,829	D342V	possibly damaging	Het
Cdc123	A	G	2: 5,798,449	V253A	probably benign	Het
Cep162	T	C	9: 87,227,167	D461G	probably benign	Het
Chd7	G	A	4: 8,859,106	E2399K	probably damaging	Het
Cln8	G	A	8: 14,896,637	C217Y	probably benign	Het
Dchs1	A	G	7: 105,758,029	V2119A	possibly damaging	Het
Dhx33	T	C	11: 71,001,620	S108G	probably benign	Het
Dip2a	T	A	10: 76,313,236	M194L	probably benign	Het
Dnah11	T	C	12: 118,068,096	K1779R	probably damaging	Het
Fads3	T	G	19: 10,055,681	F328V	possibly damaging	Het
Flad1	A	G	3: 89,405,853		probably null	Het
Gm5346	A	G	8: 43,626,351	F279L	probably damaging	Het
Gm7535	G	T	17: 17,911,888		probably benign	Het
H2-M5	A	G	17: 36,987,840	I238T	probably damaging	Het
Hoxd12	G	A	2: 74,675,427	R114Q	probably damaging	Het
Ide	T	C	19: 37,276,532	I903V	unknown	Het
Ifi209	T	G	1: 173,638,963	D120E	possibly damaging	Het
Map3k10	T	C	7: 27,668,469	D248G	probably damaging	Het
Mat2b	C	A	11: 40,687,738	G41C	probably damaging	Het
Mfsd4a	T	C	1: 132,040,594	I369V	probably benign	Het
Myom1	T	A	17: 71,126,098	V1480E	probably damaging	Het
Myom2	A	T	8: 15,069,490	D127V	probably damaging	Het
Olfml2b	T	A	1: 170,669,066	V422E	probably damaging	Het
Pkn3	G	A	2: 30,081,104	A228T	probably damaging	Het
Rad17	A	T	13: 100,629,525	I365K	probably benign	Het
Rad17	A	T	13: 100,629,523	S366T	probably damaging	Het
Rpp14	G	A	14: 8,083,934	G30E	possibly damaging	Het
Slco1a6	A	C	6: 142,161,017	C15G	probably benign	Het
Spag9	T	A	11: 94,097,866	F571I	probably benign	Het
Ttc27	T	A	17: 74,780,816	C459S	probably damaging	Het
Washc2	A	G	6: 116,256,676	T888A	probably benign	Het
Zcchc7	A	T	4: 44,931,318	H490L	possibly damaging	Het

Other mutations in Gnpat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Gnpat	APN	8	124876914	splice site	probably benign
IGL01327:Gnpat	APN	8	124878633	missense	probably damaging	1.00
IGL02257:Gnpat	APN	8	124886848	unclassified	probably benign
IGL02951:Gnpat	APN	8	124870905	missense	probably benign	0.01
IGL03084:Gnpat	APN	8	124878899	missense	probably damaging	0.99
R0114:Gnpat	UTSW	8	124883357	missense	probably benign	0.06
R0394:Gnpat	UTSW	8	124880225	missense	possibly damaging	0.82
R1023:Gnpat	UTSW	8	124870780	missense	probably benign	0.28
R1052:Gnpat	UTSW	8	124877507	missense	probably benign	0.00
R1052:Gnpat	UTSW	8	124878516	missense	probably damaging	1.00
R1537:Gnpat	UTSW	8	124870816	missense	probably damaging	0.97
R1604:Gnpat	UTSW	8	124876961	missense	probably damaging	1.00
R1711:Gnpat	UTSW	8	124886952	splice site	probably null
R1754:Gnpat	UTSW	8	124877006	missense	probably damaging	1.00
R2118:Gnpat	UTSW	8	124876941	missense	probably damaging	0.99
R2278:Gnpat	UTSW	8	124876920	missense	probably benign	0.35
R2429:Gnpat	UTSW	8	124877019	missense	probably damaging	1.00
R4579:Gnpat	UTSW	8	124878502	splice site	probably null
R6176:Gnpat	UTSW	8	124878854	missense	probably damaging	1.00
R7017:Gnpat	UTSW	8	124863275	missense	probably benign	0.33
R7081:Gnpat	UTSW	8	124863269	missense	possibly damaging	0.53
R7388:Gnpat	UTSW	8	124887814	missense	probably benign	0.32
R7716:Gnpat	UTSW	8	124876934	missense	probably benign	0.32
R7848:Gnpat	UTSW	8	124886891	missense	possibly damaging	0.89
R8169:Gnpat	UTSW	8	124880130	missense	probably benign	0.02
R8355:Gnpat	UTSW	8	124870840	missense	probably benign	0.11
R8363:Gnpat	UTSW	8	124863299	missense	probably benign	0.28
X0025:Gnpat	UTSW	8	124873399	missense	probably null	0.99
Z1177:Gnpat	UTSW	8	124863296	missense	probably benign	0.02

Posted On

2012-04-20