Incidental Mutation 'IGL02808:Pyroxd2'
ID360497
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Pyroxd2
Ensembl Gene ENSMUSG00000060224
Gene Namepyridine nucleotide-disulphide oxidoreductase domain 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL02808
Quality Score
Status
Chromosome19
Chromosomal Location42725858-42752775 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 42731342 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 475 (E475G)
Ref Sequence ENSEMBL: ENSMUSP00000075825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076505]
Predicted Effect probably benign
Transcript: ENSMUST00000076505
AA Change: E475G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: E475G

DomainStartEndE-ValueType
Pfam:NAD_binding_8 39 97 3.5e-11 PFAM
Pfam:Amino_oxidase 46 423 2.7e-15 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adk C T 14: 21,103,833 P35S probably benign Het
Ankmy1 T A 1: 92,886,666 D373V probably damaging Het
Aox3 A G 1: 58,142,700 Y282C probably damaging Het
Bcas3 A G 11: 85,495,851 T371A probably benign Het
Bckdhb T C 9: 83,988,845 V136A probably benign Het
Ccdc18 G T 5: 108,135,969 probably benign Het
Cdc25a T A 9: 109,883,599 probably null Het
Ckap5 T A 2: 91,596,514 Y1394N probably damaging Het
Dhx15 A G 5: 52,161,699 V458A possibly damaging Het
Dram1 T C 10: 88,336,924 Y136C probably damaging Het
Dusp19 A G 2: 80,617,471 K30E probably benign Het
Elmo2 T C 2: 165,291,707 probably benign Het
Fcho1 G A 8: 71,712,541 S424L possibly damaging Het
Ganc A G 2: 120,411,511 T57A probably benign Het
Hgs T A 11: 120,469,666 Y63* probably null Het
March6 A T 15: 31,478,406 N594K probably benign Het
Muc5ac C A 7: 141,805,775 T1323N possibly damaging Het
Mycn T C 12: 12,939,892 S168G probably benign Het
Phf11d G T 14: 59,349,290 Q298K probably damaging Het
Pkd1 T A 17: 24,593,504 Y3804N probably damaging Het
Pramef25 T A 4: 143,951,015 probably benign Het
Prr14l A G 5: 32,828,182 I1323T possibly damaging Het
Ros1 T C 10: 52,125,889 K1046E probably damaging Het
Sema7a C T 9: 57,960,348 A461V probably benign Het
Slc30a2 T A 4: 134,344,049 I31N possibly damaging Het
Srebf1 C A 11: 60,201,713 probably null Het
Srms A T 2: 181,207,708 I301N probably damaging Het
Tmem130 A G 5: 144,743,623 Y324H probably damaging Het
Ttn G A 2: 76,771,258 T18654I probably benign Het
Vmn2r6 T A 3: 64,556,496 T306S probably damaging Het
Other mutations in Pyroxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00969:Pyroxd2 APN 19 42731438 missense possibly damaging 0.89
IGL01636:Pyroxd2 APN 19 42738332 missense probably benign 0.40
IGL02831:Pyroxd2 APN 19 42735903 missense probably damaging 0.99
IGL03179:Pyroxd2 APN 19 42747562 missense possibly damaging 0.89
PIT4486001:Pyroxd2 UTSW 19 42740389 missense probably benign 0.00
R0360:Pyroxd2 UTSW 19 42747553 missense probably damaging 1.00
R0364:Pyroxd2 UTSW 19 42747553 missense probably damaging 1.00
R0567:Pyroxd2 UTSW 19 42735925 missense probably benign
R0690:Pyroxd2 UTSW 19 42727642 splice site probably benign
R0843:Pyroxd2 UTSW 19 42747547 missense probably damaging 1.00
R1649:Pyroxd2 UTSW 19 42738134 missense probably damaging 0.99
R2032:Pyroxd2 UTSW 19 42727649 splice site probably benign
R2087:Pyroxd2 UTSW 19 42733770 missense probably benign 0.00
R3040:Pyroxd2 UTSW 19 42735518 missense probably benign
R3898:Pyroxd2 UTSW 19 42740392 missense probably damaging 0.99
R4746:Pyroxd2 UTSW 19 42752400 nonsense probably null
R5394:Pyroxd2 UTSW 19 42740459 missense probably benign
R5634:Pyroxd2 UTSW 19 42740485 missense probably benign 0.21
R5977:Pyroxd2 UTSW 19 42735472 missense probably damaging 1.00
R6745:Pyroxd2 UTSW 19 42747360 missense probably damaging 0.99
R7128:Pyroxd2 UTSW 19 42731403 missense probably benign 0.45
Posted On2015-12-18