Incidental Mutation 'IGL01657:Pxt1'
ID103061
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pxt1
Ensembl Gene ENSMUSG00000045378
Gene Nameperoxisomal, testis specific 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.237) question?
Stock #IGL01657
Quality Score
Status
Chromosome17
Chromosomal Location28934291-28942262 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 28934804 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 18 (H18Q)
Ref Sequence ENSEMBL: ENSMUSP00000053366 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051526]
Predicted Effect possibly damaging
Transcript: ENSMUST00000051526
AA Change: H18Q

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000053366
Gene: ENSMUSG00000045378
AA Change: H18Q

DomainStartEndE-ValueType
Pfam:PXT1 1 51 2.8e-34 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141445
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148464
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrb3 A G 1: 25,826,493 F90L probably benign Het
Anapc4 T A 5: 52,864,626 Y683* probably null Het
Astn2 T G 4: 65,651,949 D773A probably damaging Het
Atp2b3 T C X: 73,545,360 probably benign Het
Atp8b5 T C 4: 43,291,693 M22T probably benign Het
Birc6 T A 17: 74,660,611 L4169H probably damaging Het
Cdc42bpa T C 1: 180,111,866 V81A probably benign Het
Clcn2 A T 16: 20,713,619 C80S probably damaging Het
Clu C T 14: 65,979,672 A318V possibly damaging Het
Csnk1g2 A G 10: 80,639,629 H378R probably benign Het
Decr2 T A 17: 26,082,952 D268V probably damaging Het
Dpp3 T C 19: 4,918,304 T247A possibly damaging Het
Eif4g1 A G 16: 20,682,216 N774D possibly damaging Het
Epha4 A T 1: 77,426,838 V344E probably damaging Het
Epha6 A C 16: 59,839,303 N817K probably benign Het
Ggcx T A 6: 72,429,958 probably null Het
Gm1965 C T 6: 89,146,666 noncoding transcript Het
Gmnn T C 13: 24,753,704 E101G probably damaging Het
Grik2 C T 10: 49,527,986 probably null Het
H2-M11 T A 17: 36,547,573 D86E probably benign Het
Il6st T A 13: 112,481,543 W164R probably damaging Het
Ilvbl G T 10: 78,576,768 V108L possibly damaging Het
Klk10 A G 7: 43,781,589 K19E possibly damaging Het
Mbd4 G T 6: 115,849,637 T131N probably damaging Het
Ncapd3 T C 9: 27,071,824 V956A possibly damaging Het
Nif3l1 A C 1: 58,455,612 T247P probably damaging Het
Nrcam T C 12: 44,559,800 V443A probably damaging Het
Olfr1260 A G 2: 89,977,877 Y33C probably damaging Het
Pigk T A 3: 152,722,520 H61Q probably damaging Het
Pla2g4d C A 2: 120,275,287 V431F possibly damaging Het
Rpusd4 T C 9: 35,273,461 probably benign Het
Slc22a18 T G 7: 143,499,100 L354R probably damaging Het
Slc26a10 A G 10: 127,175,034 V443A probably damaging Het
Smpx A G X: 157,714,680 probably benign Het
Sptan1 A G 2: 30,018,479 S1751G probably benign Het
Ush2a C T 1: 188,826,461 T3629I probably benign Het
Vcan C T 13: 89,690,586 V2280M probably damaging Het
Vmn1r30 T C 6: 58,435,634 E71G probably benign Het
Vmn2r100 A T 17: 19,525,916 I446F possibly damaging Het
Vmn2r75 A T 7: 86,164,247 V449D probably damaging Het
Other mutations in Pxt1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1454:Pxt1 UTSW 17 28934782 missense possibly damaging 0.51
Posted On2014-01-21