Incidental Mutation 'R9173:Pcyox1l'
ID 696563
Institutional Source Beutler Lab
Gene Symbol Pcyox1l
Ensembl Gene ENSMUSG00000024579
Gene Name prenylcysteine oxidase 1 like
Synonyms
MMRRC Submission 068947-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R9173 (G1)
Quality Score 225.009
Status Not validated
Chromosome 18
Chromosomal Location 61829908-61840706 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 61830663 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 403 (L403P)
Ref Sequence ENSEMBL: ENSMUSP00000025472 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025472] [ENSMUST00000195229]
AlphaFold Q8C7K6
Predicted Effect probably damaging
Transcript: ENSMUST00000025472
AA Change: L403P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025472
Gene: ENSMUSG00000024579
AA Change: L403P

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 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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1a G T 9: 119,170,190 (GRCm39) probably benign Het
Clstn1 A G 4: 149,710,564 (GRCm39) T79A probably benign Het
Cpd C T 11: 76,699,649 (GRCm39) R634Q probably damaging Het
Ctnna2 T C 6: 76,896,939 (GRCm39) D753G probably damaging Het
Cyp51 T C 5: 4,136,504 (GRCm39) N430S probably benign Het
Dnajc17 A T 2: 119,009,894 (GRCm39) V244D probably benign Het
Dusp9 TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG X: 72,684,217 (GRCm39) probably benign Het
Dysf A G 6: 84,171,379 (GRCm39) K1796E probably benign Het
Eftud2 A T 11: 102,734,242 (GRCm39) V659E probably damaging Het
Ercc4 G A 16: 12,939,973 (GRCm39) A168T possibly damaging Het
Exd2 T C 12: 80,536,236 (GRCm39) Y289H probably benign Het
Fat2 C A 11: 55,169,763 (GRCm39) V2999L probably damaging Het
Fgd5 T C 6: 92,044,584 (GRCm39) probably null Het
Fkbp9 T C 6: 56,850,389 (GRCm39) S422P possibly damaging Het
H2bc21 T C 3: 96,128,615 (GRCm39) V45A possibly damaging Het
H2-Eb2 A G 17: 34,552,491 (GRCm39) D112G probably benign Het
Herc2 A T 7: 55,856,350 (GRCm39) R3929S probably damaging Het
Hrc G A 7: 44,986,799 (GRCm39) probably null Het
Ighv5-8 T A 12: 113,618,681 (GRCm39) V32D probably benign Het
Itgal G T 7: 126,896,789 (GRCm39) probably null Het
Jcad T A 18: 4,675,820 (GRCm39) V1194E probably benign Het
Kat8 A G 7: 127,511,863 (GRCm39) T54A probably benign Het
Kcnu1 G A 8: 26,390,074 (GRCm39) probably null Het
Klk15 C T 7: 43,587,790 (GRCm39) H73Y possibly damaging Het
Lama1 A G 17: 68,076,597 (GRCm39) T1124A Het
Lrp2 T A 2: 69,299,731 (GRCm39) D3107V probably damaging Het
Map6 G A 7: 98,917,935 (GRCm39) R236H probably damaging Het
Mycbpap T A 11: 94,397,209 (GRCm39) N64I probably damaging Het
Nop14 A G 5: 34,806,776 (GRCm39) S443P probably damaging Het
Nxn T C 11: 76,149,560 (GRCm39) D380G possibly damaging Het
Or1e28-ps1 T A 11: 73,615,734 (GRCm39) I39F possibly damaging Het
Patj A T 4: 98,526,958 (GRCm39) M1390L probably benign Het
Peg10 T TCCC 6: 4,756,451 (GRCm39) probably benign Het
Pkhd1l1 A G 15: 44,384,152 (GRCm39) S1181G probably benign Het
Prom1 A T 5: 44,220,520 (GRCm39) I76N possibly damaging Het
Relch A G 1: 105,678,128 (GRCm39) E1151G probably benign Het
Rnft1 T C 11: 86,377,001 (GRCm39) S22P probably benign Het
Sec31a T C 5: 100,529,147 (GRCm39) T733A possibly damaging Het
Serpina1c A G 12: 103,862,328 (GRCm39) I329T possibly damaging Het
Slco1a4 T C 6: 141,761,299 (GRCm39) D438G probably benign Het
Slit2 G A 5: 48,377,285 (GRCm39) C438Y probably damaging Het
Sorcs1 T A 19: 50,220,753 (GRCm39) I566F possibly damaging Het
Spata31e5 T A 1: 28,816,430 (GRCm39) E534V probably benign Het
Spata7 T A 12: 98,603,853 (GRCm39) S73R probably damaging Het
Stau2 G A 1: 16,444,933 (GRCm39) R332* probably null Het
Sytl3 T C 17: 7,000,471 (GRCm39) F419L probably damaging Het
Tet1 A C 10: 62,676,065 (GRCm39) D670E probably benign Het
Trafd1 T C 5: 121,516,598 (GRCm39) R202G possibly damaging Het
Tubal3 A T 13: 3,983,050 (GRCm39) T277S possibly damaging Het
Ube4b A G 4: 149,415,933 (GRCm39) F1054L probably damaging Het
Unc13b C A 4: 43,177,421 (GRCm39) Q2750K unknown Het
Usp29 T C 7: 6,964,636 (GRCm39) S160P possibly damaging Het
Vmn2r114 A T 17: 23,510,527 (GRCm39) I651N probably damaging Het
Ypel1 A T 16: 16,915,298 (GRCm39) C103* probably null Het
Zfp11 A T 5: 129,734,891 (GRCm39) I190N probably damaging Het
Other mutations in Pcyox1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00434:Pcyox1l APN 18 61,830,613 (GRCm39) missense probably benign 0.01
IGL02036:Pcyox1l APN 18 61,840,607 (GRCm39) unclassified probably benign
IGL02478:Pcyox1l APN 18 61,830,780 (GRCm39) missense probably benign 0.34
R0036:Pcyox1l UTSW 18 61,830,492 (GRCm39) missense probably benign 0.13
R0325:Pcyox1l UTSW 18 61,830,964 (GRCm39) missense possibly damaging 0.90
R1726:Pcyox1l UTSW 18 61,830,849 (GRCm39) missense probably benign 0.38
R4457:Pcyox1l UTSW 18 61,830,939 (GRCm39) missense probably benign 0.01
R4763:Pcyox1l UTSW 18 61,830,850 (GRCm39) missense probably benign 0.38
R4811:Pcyox1l UTSW 18 61,830,606 (GRCm39) missense possibly damaging 0.67
R4876:Pcyox1l UTSW 18 61,832,565 (GRCm39) missense probably damaging 0.96
R4983:Pcyox1l UTSW 18 61,832,468 (GRCm39) missense probably damaging 0.98
R5390:Pcyox1l UTSW 18 61,832,433 (GRCm39) missense probably benign 0.19
R5813:Pcyox1l UTSW 18 61,832,359 (GRCm39) splice site probably null
R5933:Pcyox1l UTSW 18 61,831,544 (GRCm39) missense probably benign 0.05
R7018:Pcyox1l UTSW 18 61,840,625 (GRCm39) unclassified probably benign
R7356:Pcyox1l UTSW 18 61,840,621 (GRCm39) missense probably null
R7384:Pcyox1l UTSW 18 61,831,461 (GRCm39) missense probably damaging 1.00
R7393:Pcyox1l UTSW 18 61,830,712 (GRCm39) missense probably benign 0.43
R8125:Pcyox1l UTSW 18 61,840,576 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- CTGGTACCAGCGGTTATAAGCC -3'
(R):5'- TGGTCCATGGCTACCTCAAC -3'

Sequencing Primer
(F):5'- ATTCTTAGCAGCTACAGCCG -3'
(R):5'- GGTCCATGGCTACCTCAACTCTTC -3'
Posted On 2022-02-07