Incidental Mutation 'R8925:Pyroxd1'
ID 680179
Institutional Source Beutler Lab
Gene Symbol Pyroxd1
Ensembl Gene ENSMUSG00000041671
Gene Name pyridine nucleotide-disulphide oxidoreductase domain 1
Synonyms
MMRRC Submission 068708-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8925 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142291381-142307881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 142300437 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 189 (F189Y)
Ref Sequence ENSEMBL: ENSMUSP00000036394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852] [ENSMUST00000100832]
AlphaFold Q3TMV7
Predicted Effect probably benign
Transcript: ENSMUST00000032370
SMART Domains Protein: ENSMUSP00000032370
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
DEXDc 88 291 2.5e-27 SMART
HELICc 328 409 2.2e-26 SMART
Pfam:RQC 488 592 5.5e-6 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000041852
AA Change: F189Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: F189Y

DomainStartEndE-ValueType
Pfam:Pyr_redox_2 8 234 2.2e-18 PFAM
Pfam:Pyr_redox_2 266 381 4e-16 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100832
SMART Domains Protein: ENSMUSP00000098394
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
coiled coil region 6 51 N/A INTRINSIC
DEXDc 88 291 6e-25 SMART
HELICc 328 409 5.51e-24 SMART
Pfam:RQC 488 592 1.1e-8 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000141504
SMART Domains Protein: ENSMUSP00000119452
Gene: ENSMUSG00000030243

DomainStartEndE-ValueType
Pfam:RecQ_Zn_bind 10 69 7.1e-16 PFAM
Pfam:RQC 73 187 2.5e-8 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 95% (54/57)
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017B05Rik G A 9: 57,165,805 (GRCm39) R190* probably null Het
Aldh7a1 A T 18: 56,660,060 (GRCm39) S529T probably benign Het
Carmil2 T G 8: 106,415,130 (GRCm39) Y214* probably null Het
Ccdc136 A G 6: 29,406,109 (GRCm39) I152V probably damaging Het
Ccdc88c T C 12: 100,932,676 (GRCm39) D285G possibly damaging Het
Clec4a3 T A 6: 122,946,328 (GRCm39) F191I probably damaging Het
Dlg5 A T 14: 24,206,547 (GRCm39) S1222T Het
Dnaaf9 T A 2: 130,579,300 (GRCm39) R777* probably null Het
Dnah14 T G 1: 181,508,321 (GRCm39) L1833W probably damaging Het
Dsg2 T C 18: 20,725,535 (GRCm39) W549R probably damaging Het
Ezh2 A T 6: 47,510,713 (GRCm39) V632E possibly damaging Het
Fam83a G A 15: 57,873,313 (GRCm39) V381M probably benign Het
Flacc1 A T 1: 58,706,882 (GRCm39) probably null Het
Fmo2 T C 1: 162,704,398 (GRCm39) T503A probably benign Het
Foxo1 T C 3: 52,252,703 (GRCm39) F289L probably damaging Het
Gckr A G 5: 31,456,903 (GRCm39) E96G probably damaging Het
Gm18596 G A 10: 77,578,162 (GRCm39) A104V unknown Het
Gm21680 A T 5: 26,176,347 (GRCm39) N83K probably damaging Het
Gnb5 T C 9: 75,252,236 (GRCm39) V393A possibly damaging Het
Grin2b T G 6: 135,749,339 (GRCm39) Q621P probably damaging Het
Gtsf2 T C 15: 103,352,783 (GRCm39) I79V probably benign Het
Itga1 T C 13: 115,105,055 (GRCm39) I1040V probably benign Het
Kif2b C T 11: 91,468,023 (GRCm39) E87K probably benign Het
Klk1b8 G A 7: 43,604,206 (GRCm39) G225S probably damaging Het
L3mbtl3 A T 10: 26,220,084 (GRCm39) C94S unknown Het
Man2c1 T G 9: 57,048,456 (GRCm39) Y872* probably null Het
Mical3 T A 6: 120,984,325 (GRCm39) M832L probably benign Het
Mrc2 A G 11: 105,216,334 (GRCm39) D41G probably benign Het
Nedd1 T A 10: 92,558,258 (GRCm39) probably benign Het
Nefh TTTGGCCTCAGCTGGTGACTTGGGCTCAGCTGGAGACTTGGCCTCACCTGGTGACTTG TTTGGCCTCACCTGGTGACTTG 11: 4,890,530 (GRCm39) probably benign Het
Nicn1 C T 9: 108,171,708 (GRCm39) R163C possibly damaging Het
Notch3 C T 17: 32,372,792 (GRCm39) R593Q probably benign Het
Nxpe3 T G 16: 55,669,997 (GRCm39) E369D possibly damaging Het
Obscn T A 11: 58,977,695 (GRCm39) T1802S possibly damaging Het
Or1e33 A T 11: 73,738,406 (GRCm39) F182I probably benign Het
Or2a7 T C 6: 43,151,669 (GRCm39) F250L probably benign Het
Or4k51 A T 2: 111,585,107 (GRCm39) H171L probably benign Het
Or9s14 A G 1: 92,536,438 (GRCm39) N293S probably damaging Het
Oscar A C 7: 3,614,747 (GRCm39) V75G probably benign Het
Pcdhb17 G A 18: 37,620,372 (GRCm39) A721T probably benign Het
Pcnx2 T C 8: 126,614,659 (GRCm39) Y264C probably benign Het
Pear1 G T 3: 87,661,890 (GRCm39) A495D probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Plekhf1 C A 7: 37,920,998 (GRCm39) R190L probably damaging Het
Plppr5 T C 3: 117,369,532 (GRCm39) V63A probably benign Het
Rab13 C T 3: 90,128,120 (GRCm39) probably benign Het
Rptor C T 11: 119,782,036 (GRCm39) T1121I probably benign Het
Scgb2b7 T C 7: 31,404,602 (GRCm39) S33G probably benign Het
Slc25a36 A G 9: 96,982,126 (GRCm39) probably null Het
Smc1b A T 15: 84,991,273 (GRCm39) probably null Het
Smtn T A 11: 3,479,477 (GRCm39) H530L possibly damaging Het
Srrt C T 5: 137,297,070 (GRCm39) C411Y probably benign Het
Stag1 C A 9: 100,587,298 (GRCm39) P7Q possibly damaging Het
Tarm1 G A 7: 3,537,719 (GRCm39) T248I possibly damaging Het
Tektl1 T C 10: 78,588,258 (GRCm39) Y184C probably damaging Het
Trim6 C T 7: 103,881,655 (GRCm39) A328V probably benign Het
Vmn1r189 T C 13: 22,286,811 (GRCm39) I9V probably benign Het
Vmn2r93 A G 17: 18,546,500 (GRCm39) T791A probably damaging Het
Vsig10l A G 7: 43,116,020 (GRCm39) T454A probably benign Het
Other mutations in Pyroxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01335:Pyroxd1 APN 6 142,307,484 (GRCm39) missense probably damaging 0.96
IGL01720:Pyroxd1 APN 6 142,296,784 (GRCm39) splice site probably benign
IGL02139:Pyroxd1 APN 6 142,300,457 (GRCm39) missense probably benign
IGL02930:Pyroxd1 APN 6 142,304,778 (GRCm39) missense probably damaging 1.00
R0233:Pyroxd1 UTSW 6 142,300,356 (GRCm39) missense possibly damaging 0.77
R0233:Pyroxd1 UTSW 6 142,300,356 (GRCm39) missense possibly damaging 0.77
R0329:Pyroxd1 UTSW 6 142,307,702 (GRCm39) missense probably benign 0.37
R0505:Pyroxd1 UTSW 6 142,299,288 (GRCm39) missense possibly damaging 0.55
R0552:Pyroxd1 UTSW 6 142,291,463 (GRCm39) missense probably benign 0.06
R1073:Pyroxd1 UTSW 6 142,294,370 (GRCm39) critical splice donor site probably null
R1319:Pyroxd1 UTSW 6 142,304,874 (GRCm39) missense probably benign 0.33
R2200:Pyroxd1 UTSW 6 142,304,808 (GRCm39) missense probably benign 0.01
R4638:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4639:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4640:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4641:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4642:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4643:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4645:Pyroxd1 UTSW 6 142,300,467 (GRCm39) nonsense probably null
R4687:Pyroxd1 UTSW 6 142,307,594 (GRCm39) missense probably benign 0.00
R5359:Pyroxd1 UTSW 6 142,307,717 (GRCm39) missense probably damaging 1.00
R5688:Pyroxd1 UTSW 6 142,299,266 (GRCm39) missense probably damaging 1.00
R6208:Pyroxd1 UTSW 6 142,303,182 (GRCm39) missense probably benign 0.00
R6295:Pyroxd1 UTSW 6 142,300,479 (GRCm39) missense probably benign 0.00
R7056:Pyroxd1 UTSW 6 142,304,808 (GRCm39) missense probably benign 0.01
R7445:Pyroxd1 UTSW 6 142,304,227 (GRCm39) missense probably benign 0.03
R8927:Pyroxd1 UTSW 6 142,300,437 (GRCm39) missense probably damaging 1.00
R8987:Pyroxd1 UTSW 6 142,302,251 (GRCm39) missense
R9555:Pyroxd1 UTSW 6 142,300,421 (GRCm39) missense possibly damaging 0.65
V1662:Pyroxd1 UTSW 6 142,304,169 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- AGTGGACCAGCCTGCTTTAG -3'
(R):5'- AATAAATACTCACATTCCTGCCTCCTG -3'

Sequencing Primer
(F):5'- AGTGGACCAGCCTGCTTTAGTATTC -3'
(R):5'- ACATTCCTGCCTCCTGAATAC -3'
Posted On 2021-08-31