Incidental Mutation 'R7445:Pyroxd1'
ID 577225
Institutional Source Beutler Lab
Gene Symbol Pyroxd1
Ensembl Gene ENSMUSG00000041671
Gene Name pyridine nucleotide-disulphide oxidoreductase domain 1
Synonyms
MMRRC Submission 045521-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7445 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 142291381-142307881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 142304227 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 326 (H326L)
Ref Sequence ENSEMBL: ENSMUSP00000036394 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000032370] [ENSMUST00000041852] [ENSMUST00000100832] [ENSMUST00000111803]
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 benign
Transcript: ENSMUST00000041852
AA Change: H326L

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000036394
Gene: ENSMUSG00000041671
AA Change: H326L

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: ENSMUST00000111803
SMART Domains Protein: ENSMUSP00000107434
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:RecQ_Zn_bind 420 479 2.5e-15 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000123912
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
Meta Mutation Damage Score 0.0926 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,962 (GRCm39) S233T probably damaging Het
1700034E13Rik T A 18: 52,793,553 (GRCm39) C29S probably damaging Het
Acsbg3 G A 17: 57,189,973 (GRCm39) R333Q possibly damaging Het
Ank3 A G 10: 69,827,954 (GRCm39) T2208A Het
Ap4s1 T C 12: 51,785,424 (GRCm39) L132P probably damaging Het
Ascl4 C T 10: 85,764,364 (GRCm39) R4C probably benign Het
Brd7 A T 8: 89,088,336 (GRCm39) Y18N probably damaging Het
Cacna2d3 A G 14: 28,780,575 (GRCm39) S648P possibly damaging Het
Camta1 C T 4: 151,228,748 (GRCm39) E695K possibly damaging Het
Ccdc28b A G 4: 129,516,400 (GRCm39) F53L probably benign Het
Chaf1a A G 17: 56,369,170 (GRCm39) D467G possibly damaging Het
Cnnm1 G A 19: 43,429,260 (GRCm39) R126H possibly damaging Het
Cog5 T G 12: 31,969,671 (GRCm39) S730R possibly damaging Het
Col11a1 A T 3: 113,987,578 (GRCm39) E1374D unknown Het
Csmd1 A G 8: 16,208,268 (GRCm39) I1229T possibly damaging Het
Degs1l A G 1: 180,882,577 (GRCm39) N113S possibly damaging Het
Dnajc30 T C 5: 135,093,232 (GRCm39) L43P probably damaging Het
Eif3f C T 7: 108,533,865 (GRCm39) T76M unknown Het
Ermap G A 4: 119,045,907 (GRCm39) T42I unknown Het
Gpd1l C T 9: 114,749,742 (GRCm39) G25S probably damaging Het
Heatr1 G T 13: 12,445,919 (GRCm39) W1632L possibly damaging Het
Ice1 T C 13: 70,744,286 (GRCm39) D29G Het
Ipo8 T C 6: 148,691,315 (GRCm39) D685G probably benign Het
Klra10 T C 6: 130,252,819 (GRCm39) T152A probably benign Het
Lmntd1 T A 6: 145,375,693 (GRCm39) S82C probably damaging Het
Maip1 T C 1: 57,446,190 (GRCm39) S87P possibly damaging Het
Mapkapk2 A G 1: 131,025,256 (GRCm39) S3P unknown Het
Mei4 A G 9: 81,772,292 (GRCm39) Y35C possibly damaging Het
Ms4a14 T G 19: 11,280,336 (GRCm39) K741Q probably benign Het
Mtcl3 T C 10: 29,072,999 (GRCm39) S764P possibly damaging Het
Naip2 A C 13: 100,298,290 (GRCm39) I582S probably benign Het
Ncapg2 A G 12: 116,382,888 (GRCm39) I240V possibly damaging Het
Ncbp1 T A 4: 46,149,914 (GRCm39) M145K probably damaging Het
Nmur2 A G 11: 55,923,766 (GRCm39) F263L probably damaging Het
Ntrk2 A G 13: 58,994,576 (GRCm39) E164G probably benign Het
Or2ag1 A G 7: 106,472,549 (GRCm39) L301S possibly damaging Het
Or4c58 T A 2: 89,674,616 (GRCm39) T234S probably damaging Het
Or6c5b A T 10: 129,245,754 (GRCm39) D173V probably benign Het
P3h2 T A 16: 25,803,815 (GRCm39) Y317F probably damaging Het
Pcmtd1 C T 1: 7,190,644 (GRCm39) R38C probably damaging Het
Pcyox1 T C 6: 86,368,661 (GRCm39) T286A possibly damaging Het
Pdxk T C 10: 78,283,801 (GRCm39) D131G probably benign Het
Ppl T C 16: 4,906,932 (GRCm39) D1121G probably damaging Het
Prkra T C 2: 76,463,942 (GRCm39) D240G probably benign Het
Ptgs1 C A 2: 36,135,222 (GRCm39) N395K probably benign Het
Ptprq A T 10: 107,426,820 (GRCm39) Y1572N probably damaging Het
Rapgef5 A G 12: 117,719,704 (GRCm39) D778G probably benign Het
Rbm46 T A 3: 82,771,517 (GRCm39) E366V probably damaging Het
Rnd1 G T 15: 98,568,550 (GRCm39) H209Q probably benign Het
Rnf122 A T 8: 31,608,528 (GRCm39) D32V possibly damaging Het
Samd4b G A 7: 28,105,881 (GRCm39) P446S probably benign Het
Slco1a5 C A 6: 142,204,734 (GRCm39) A187S possibly damaging Het
Smarca4 G A 9: 21,597,543 (GRCm39) V1436M probably damaging Het
Smok2a G A 17: 13,445,526 (GRCm39) G368R possibly damaging Het
Smok3c T A 5: 138,062,757 (GRCm39) H81Q probably damaging Het
Stk16 T C 1: 75,190,296 (GRCm39) V245A probably damaging Het
Svep1 A T 4: 58,094,122 (GRCm39) N1505K possibly damaging Het
Tigd4 G A 3: 84,502,471 (GRCm39) A463T probably benign Het
Tmem117 T C 15: 94,612,799 (GRCm39) F112L probably benign Het
Tmem72 A G 6: 116,675,291 (GRCm39) I67T probably benign Het
Tnik A G 3: 28,718,058 (GRCm39) probably null Het
Trav14-2 A G 14: 53,878,515 (GRCm39) Q66R probably damaging Het
Trpv6 T A 6: 41,598,276 (GRCm39) D677V probably damaging Het
Vgll4 C T 6: 114,839,157 (GRCm39) S278N unknown Het
Wdfy4 C T 14: 32,792,575 (GRCm39) W2157* probably null 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
R8925:Pyroxd1 UTSW 6 142,300,437 (GRCm39) missense probably damaging 1.00
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'- ACCTTCAGAAAATAAAGTGGCCTTC -3'
(R):5'- GCGGATGTTAACTGCTGGAC -3'

Sequencing Primer
(F):5'- CAGAAAATAAAGTGGCCTTCCTTCTG -3'
(R):5'- ATGTTAACTGCTGGACGCTAAG -3'
Posted On 2019-10-07