Incidental Mutation 'IGL00089:Gnpat'
ID 1354
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: 0.461) question?
Stock # IGL00089
Quality Score
Status
Chromosome 8
Chromosomal Location 124863033-124890057 bp(+) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 124876914 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000125323 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034466] [ENSMUST00000161986]
AlphaFold P98192
Predicted Effect probably benign
Transcript: ENSMUST00000034466
SMART Domains Protein: ENSMUSP00000034466
Gene: ENSMUSG00000031985

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000161986
SMART Domains Protein: ENSMUSP00000125323
Gene: ENSMUSG00000031985

DomainStartEndE-ValueType
low complexity region 5 20 N/A INTRINSIC
PlsC 145 274 8.3e-21 SMART
Blast:PlsC 298 326 2e-6 BLAST
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931406P16Rik A T 7: 34,245,987 probably benign Het
A430033K04Rik T C 5: 138,647,592 S580P probably damaging Het
Abca12 T A 1: 71,303,541 I927F possibly damaging Het
Abca8a A G 11: 110,050,939 V1168A possibly damaging Het
Abcc1 T A 16: 14,460,983 N1052K probably benign Het
Adamts13 C A 2: 27,005,361 Q1155K probably benign Het
Adgre4 A T 17: 55,791,915 probably benign Het
AF529169 C T 9: 89,601,800 V515I probably benign Het
Ahsa2 T C 11: 23,496,837 E42G probably damaging Het
Ankk1 T G 9: 49,421,900 I95L probably benign Het
Anpep A T 7: 79,841,986 L89Q probably damaging Het
Arl5a T C 2: 52,416,071 N83S probably benign Het
Atp11b A G 3: 35,809,376 probably null Het
Atp6v0a2 T C 5: 124,721,777 F849L probably benign Het
BC106179 A G 16: 23,224,272 probably benign Het
Bcl2a1c T C 9: 114,330,540 *129Q probably null Het
C2cd5 T C 6: 143,017,945 I888V probably null Het
Calb2 A T 8: 110,145,671 L227Q probably damaging Het
Casc4 T C 2: 121,910,793 probably benign Het
Ccp110 G T 7: 118,722,424 C434F possibly damaging Het
Cd209c A T 8: 3,940,339 C160S probably damaging Het
Chmp1a A G 8: 123,209,019 probably null Het
Col6a6 T A 9: 105,758,191 probably null Het
Cyld T A 8: 88,705,457 C28S probably benign Het
Dapk1 A T 13: 60,761,040 I1156F probably benign Het
Dennd1a A T 2: 38,243,442 Y16* probably null Het
Dennd3 T G 15: 73,567,133 S1117A probably benign Het
Dgka A T 10: 128,733,086 D203E probably damaging Het
Dhx15 G T 5: 52,166,775 L392I probably damaging Het
Dnah10 A G 5: 124,746,616 D567G probably benign Het
Eaf1 T A 14: 31,504,526 probably null Het
Efnb2 T C 8: 8,660,589 D9G probably benign Het
Fcrla A T 1: 170,927,498 C15S probably benign Het
Flt3 T C 5: 147,354,876 N588S probably damaging Het
Gm10146 A T 10: 78,393,473 noncoding transcript Het
Gpr39 A C 1: 125,872,731 R406S probably benign Het
H2-Aa T C 17: 34,284,530 H31R probably damaging Het
Helz2 G T 2: 181,229,702 R2706S probably damaging Het
Hip1r T A 5: 123,989,735 probably null Het
Hnf4g A G 3: 3,648,082 T239A probably benign Het
Hps5 A T 7: 46,775,938 I413N probably damaging Het
Hspg2 G A 4: 137,528,820 G1413R probably damaging Het
Itgax T G 7: 128,135,326 M352R probably damaging Het
Katna1 T A 10: 7,762,804 M433K probably damaging Het
Kcna4 T G 2: 107,295,862 S314A probably damaging Het
Kif13b C T 14: 64,669,693 T42I possibly damaging Het
Krt78 G A 15: 101,947,510 T622I probably benign Het
Krt86 T A 15: 101,476,515 M263K possibly damaging Het
Lap3 A G 5: 45,506,169 probably benign Het
Lepr A T 4: 101,815,035 R1085S probably benign Het
Lmcd1 A G 6: 112,329,808 I314V probably benign Het
Luc7l2 T C 6: 38,608,170 probably benign Het
Mcm2 T A 6: 88,893,401 M117L probably benign Het
Mdh2 T C 5: 135,786,284 Y133H probably damaging Het
Mlkl T A 8: 111,319,428 R317* probably null Het
Mrps34 T C 17: 24,895,370 L68P probably damaging Het
Muc4 G A 16: 32,754,086 G1321R probably benign Het
Myo18a A G 11: 77,847,938 E1299G probably damaging Het
Nlrp14 T C 7: 107,192,502 L139P possibly damaging Het
Nudcd2 A G 11: 40,736,586 D86G probably damaging Het
Olfr1212 T A 2: 88,958,766 I100N probably damaging Het
Olfr1318 A T 2: 112,156,067 M39L probably benign Het
Olfr819 T A 10: 129,965,804 R293W probably damaging Het
Patj T C 4: 98,465,106 F629L probably damaging Het
Rad23a A G 8: 84,835,895 F280L probably damaging Het
Ralgapa1 C A 12: 55,722,773 G811V probably damaging Het
St18 A G 1: 6,802,572 D177G probably benign Het
Sult1c2 A C 17: 53,833,119 Y159* probably null Het
Surf6 T A 2: 26,893,069 probably null Het
Susd6 T G 12: 80,870,067 probably benign Het
Sypl2 G A 3: 108,226,426 probably benign Het
Ubr5 A T 15: 37,984,036 F2289Y probably damaging Het
Vcl T C 14: 20,987,003 I223T probably benign Het
Vmn1r234 C T 17: 21,229,598 T258I possibly damaging Het
Vmn2r58 T A 7: 41,864,430 K263M possibly damaging Het
Vmo1 A T 11: 70,513,598 N192K probably damaging Het
Wrnip1 A G 13: 32,816,329 N440D probably damaging Het
Zc3h4 T C 7: 16,422,234 Y264H unknown Het
Zfp639 T G 3: 32,519,753 probably null Het
Zfp831 T C 2: 174,646,285 Y918H possibly damaging Het
Other mutations in Gnpat
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00422:Gnpat APN 8 124885013 missense probably damaging 1.00
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
R8851:Gnpat UTSW 8 124874265 missense probably damaging 1.00
R9234:Gnpat UTSW 8 124883440 missense probably damaging 1.00
R9276:Gnpat UTSW 8 124887785 missense probably benign 0.45
X0025:Gnpat UTSW 8 124873399 missense probably null 0.99
Z1177:Gnpat UTSW 8 124863296 missense probably benign 0.02
Posted On 2011-07-12