Incidental Mutation 'R4983:Pcyox1l'
ID385770
Institutional Source Beutler Lab
Gene Symbol Pcyox1l
Ensembl Gene ENSMUSG00000024579
Gene Nameprenylcysteine oxidase 1 like
Synonyms
MMRRC Submission 042577-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R4983 (G1)
Quality Score225
Status Validated
Chromosome18
Chromosomal Location61696837-61707635 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 61699397 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 193 (E193G)
Ref Sequence ENSEMBL: ENSMUSP00000025472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025472] [ENSMUST00000195229]
Predicted Effect probably damaging
Transcript: ENSMUST00000025472
AA Change: E193G

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000025472
Gene: ENSMUSG00000024579
AA Change: E193G

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:NAD_binding_8 31 98 2.8e-12 PFAM
Pfam:Amino_oxidase 36 380 3.5e-11 PFAM
Pfam:Prenylcys_lyase 120 491 1.3e-145 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154763
Predicted Effect probably benign
Transcript: ENSMUST00000195229
SMART Domains Protein: ENSMUSP00000142249
Gene: ENSMUSG00000024579

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:DAO 28 108 2.7e-6 PFAM
Pfam:NAD_binding_8 31 99 2e-11 PFAM
Meta Mutation Damage Score 0.7835 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 97% (103/106)
Allele List at MGI
Other mutations in this stock
Total: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933411K16Rik T G 19: 42,053,076 S215R possibly damaging Het
9130011E15Rik T C 19: 45,950,707 T335A probably benign Het
Abcc9 T C 6: 142,682,141 M388V probably benign Het
Acbd6 A C 1: 155,601,529 T154P probably benign Het
Ago1 T C 4: 126,453,654 D434G probably damaging Het
Ankib1 A T 5: 3,769,652 M89K probably benign Het
Arap2 A T 5: 62,676,525 H866Q probably damaging Het
BC017158 C T 7: 128,276,473 probably benign Het
Capn12 A T 7: 28,890,370 H622L probably benign Het
Capns2 T G 8: 92,901,902 F140V probably damaging Het
Catsper1 T G 19: 5,335,963 F75V probably benign Het
Ccdc24 T C 4: 117,872,100 N16S probably benign Het
Cdkn2aip A T 8: 47,712,929 L114Q probably damaging Het
Cenpe T A 3: 135,234,928 S649R probably damaging Het
Chgb A T 2: 132,793,682 R515W probably damaging Het
Chrnb1 A G 11: 69,793,978 F123S probably damaging Het
Copz2 A T 11: 96,857,551 probably null Het
Cspp1 T A 1: 10,126,463 N900K probably damaging Het
Daw1 C A 1: 83,187,998 A178E probably benign Het
Dnase1l1 C T X: 74,277,038 probably null Homo
Epb41l5 T C 1: 119,555,071 D629G probably benign Het
Erap1 A G 13: 74,690,710 E925G probably benign Het
Exoc7 A C 11: 116,289,269 F657V probably damaging Het
Fam210b G C 2: 172,345,665 A2P probably damaging Homo
Fry A G 5: 150,398,254 E1018G probably damaging Het
Galc A T 12: 98,242,768 L15* probably null Het
Gm11232 T A 4: 71,756,901 K121N possibly damaging Het
Gm17677 T G 9: 35,742,169 F90V probably benign Het
Hectd1 A T 12: 51,784,262 D931E probably benign Het
Hecw2 T C 1: 53,832,671 H1372R probably benign Het
Ighv3-2 T A 12: 114,033,986 noncoding transcript Het
Kcns2 T G 15: 34,839,605 S371R probably damaging Het
Kif23 T C 9: 61,936,703 K175E probably benign Het
Kmt2c G A 5: 25,295,511 R436W possibly damaging Het
Lama5 A G 2: 180,193,449 S1317P probably benign Het
Lce1e T C 3: 92,707,828 S71G unknown Het
Lrrc37a T A 11: 103,497,618 E2327V unknown Het
Map3k20 A G 2: 72,402,067 M356V probably benign Het
Med12l C T 3: 59,261,929 A1580V probably damaging Het
Metap2 G T 10: 93,889,600 T30K possibly damaging Het
Mysm1 T A 4: 94,972,970 T53S probably benign Het
Nasp A T 4: 116,602,185 D717E probably damaging Het
Ndnf G A 6: 65,703,571 R278H possibly damaging Het
Neb A T 2: 52,216,261 N4205K probably damaging Het
Nebl A T 2: 17,375,271 I764N possibly damaging Het
Nucb1 A G 7: 45,498,889 Y131H probably damaging Het
Olfr1157 G T 2: 87,962,698 H65N probably benign Het
Olfr292 A C 7: 86,694,479 T8P probably benign Het
Olfr381 A G 11: 73,486,797 I9T probably benign Het
Oscp1 T A 4: 126,076,762 C115S probably benign Het
Paip2 C T 18: 35,613,359 R59C possibly damaging Het
Pcdhga4 G A 18: 37,686,519 D374N probably damaging Het
Pcolce G T 5: 137,605,674 probably benign Het
Pde6b A T 5: 108,425,330 Q522L probably benign Het
Peg10 T TCCG 6: 4,756,451 probably benign Het
Phf11a A G 14: 59,284,438 F95L probably benign Het
Pja2 A C 17: 64,309,058 S281A probably benign Het
Plekhm2 A G 4: 141,634,376 F272S probably damaging Het
Pom121l2 T C 13: 21,983,814 S752P probably benign Het
Ppl T C 16: 5,088,718 T1238A possibly damaging Het
Prmt7 A G 8: 106,250,363 Y569C probably damaging Het
Prss37 G A 6: 40,516,136 T132I probably benign Het
Psmf1 A T 2: 151,729,457 probably benign Het
Ptprj A C 2: 90,460,532 I528S probably damaging Het
Reg1 A G 6: 78,428,213 T140A possibly damaging Het
Rtn4 A G 11: 29,707,217 N457S probably benign Het
Scn9a T C 2: 66,566,270 K93R probably benign Het
Sec16a A G 2: 26,439,519 V828A probably benign Het
Sec23b T A 2: 144,581,953 D507E probably benign Het
Sirt4 A T 5: 115,482,791 F107L probably benign Het
Slc14a2 A T 18: 78,150,401 L862Q probably damaging Het
Slc16a4 T C 3: 107,300,860 S229P probably benign Het
Slc37a3 A T 6: 39,352,717 C185* probably null Het
Slc5a2 A T 7: 128,271,810 *154C probably null Het
Snx17 A G 5: 31,195,794 S42G possibly damaging Het
Tgm6 T C 2: 130,141,193 V234A probably damaging Het
Thbs4 A G 13: 92,790,699 M94T probably benign Het
Thtpa A G 14: 55,072,148 probably benign Het
Tie1 T C 4: 118,483,755 E343G probably damaging Het
Tmem145 A G 7: 25,308,602 I238V probably benign Het
Tmprss11f T C 5: 86,537,999 S170G probably benign Het
Tnk2 T A 16: 32,680,465 D865E probably damaging Het
Ttll8 T C 15: 88,925,582 E337G probably benign Het
Ttn G A 2: 76,867,446 probably benign Het
Tubgcp6 T C 15: 89,106,291 E710G probably damaging Het
Txndc2 T A 17: 65,638,060 H374L probably benign Het
Unc80 G T 1: 66,674,732 probably null Het
Vmn2r23 G A 6: 123,733,349 C537Y probably damaging Het
Vmn2r45 A G 7: 8,483,117 F391L probably damaging Het
Vstm4 A T 14: 32,919,245 T262S probably benign Het
Zfp180 C T 7: 24,106,078 R641C probably damaging Het
Zfp979 A T 4: 147,613,914 S113T possibly damaging Het
Zswim4 C T 8: 84,226,667 probably null Het
Zswim5 T A 4: 116,985,686 M876K possibly damaging Het
Other mutations in Pcyox1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pcyox1l APN 18 61697542 missense probably benign 0.01
IGL02036:Pcyox1l APN 18 61707536 unclassified probably benign
IGL02478:Pcyox1l APN 18 61697709 missense probably benign 0.34
R0036:Pcyox1l UTSW 18 61697421 missense probably benign 0.13
R0325:Pcyox1l UTSW 18 61697893 missense possibly damaging 0.90
R1726:Pcyox1l UTSW 18 61697778 missense probably benign 0.38
R4457:Pcyox1l UTSW 18 61697868 missense probably benign 0.01
R4763:Pcyox1l UTSW 18 61697779 missense probably benign 0.38
R4811:Pcyox1l UTSW 18 61697535 missense possibly damaging 0.67
R4876:Pcyox1l UTSW 18 61699494 missense probably damaging 0.96
R5390:Pcyox1l UTSW 18 61699362 missense probably benign 0.19
R5813:Pcyox1l UTSW 18 61699288 splice site probably null
R5933:Pcyox1l UTSW 18 61698473 missense probably benign 0.05
R7018:Pcyox1l UTSW 18 61707554 unclassified probably benign
R7356:Pcyox1l UTSW 18 61707550 missense probably null
R7384:Pcyox1l UTSW 18 61698390 missense probably damaging 1.00
R7393:Pcyox1l UTSW 18 61697641 missense probably benign 0.43
R8125:Pcyox1l UTSW 18 61707505 missense unknown
Predicted Primers PCR Primer
(F):5'- TCATGGGACCCAGCTTGTTC -3'
(R):5'- TCCACTCGTGTTCAGAGACATC -3'

Sequencing Primer
(F):5'- CCCAGCTTGTTCTAAGTATATGGAC -3'
(R):5'- TCGTGTTCAGAGACATCACCAG -3'
Posted On2016-05-10