Incidental Mutation 'IGL03179:Pyroxd2'
ID412120
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: 0.085) question?
Stock #IGL03179
Quality Score
Status
Chromosome19
Chromosomal Location42725858-42752775 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 42747562 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Isoleucine at position 59 (N59I)
Ref Sequence ENSEMBL: ENSMUSP00000075825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000076505]
Predicted Effect possibly damaging
Transcript: ENSMUST00000076505
AA Change: N59I

PolyPhen 2 Score 0.891 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000075825
Gene: ENSMUSG00000060224
AA Change: N59I

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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932429P05Rik G A X: 89,752,828 G89S possibly damaging Het
AI314180 C T 4: 58,832,777 G861D probably damaging Het
Akap11 T A 14: 78,507,740 H1736L probably benign Het
App A G 16: 85,082,847 C133R probably damaging Het
Atxn7l2 G T 3: 108,203,647 C524* probably null Het
Cckbr T C 7: 105,434,923 V288A probably benign Het
Ccr1l1 T C 9: 123,977,750 Y220C probably damaging Het
Cdc42se2 A T 11: 54,723,591 F47I possibly damaging Het
Cep290 T A 10: 100,568,088 I2317N possibly damaging Het
Chrnd T C 1: 87,195,780 S347P probably damaging Het
Clcn5 T A X: 7,163,326 probably null Het
D6Wsu163e A G 6: 126,950,111 D187G probably damaging Het
Dnajc13 T A 9: 104,167,435 I1852F probably benign Het
Fcnb A G 2: 28,076,634 S296P possibly damaging Het
Fut2 C T 7: 45,650,649 R233K probably benign Het
Gm21985 G A 2: 112,358,555 V1078I possibly damaging Het
Gpc3 A T X: 52,397,213 probably benign Het
Krt10 A G 11: 99,389,218 probably benign Het
Lrrk2 A G 15: 91,700,578 E370G probably damaging Het
Myo5c A T 9: 75,255,866 I326F possibly damaging Het
Neb A T 2: 52,176,641 L5906Q probably damaging Het
Nrd1 A T 4: 109,046,691 probably benign Het
Nrip2 A G 6: 128,404,975 N17S possibly damaging Het
Olfr568 T C 7: 102,878,072 probably benign Het
Olfr750 T C 14: 51,071,010 I128V probably benign Het
P2rx7 A G 5: 122,673,700 Y358C possibly damaging Het
Pex10 A C 4: 155,067,897 I61L probably benign Het
Phax T C 18: 56,580,292 F248L probably damaging Het
Phtf2 A T 5: 20,782,399 D366E probably damaging Het
Pnpo A G 11: 96,939,259 Y205H possibly damaging Het
Pparg T A 6: 115,439,872 W9R probably damaging Het
Prex1 C T 2: 166,585,194 S867N probably benign Het
Rnf135 T A 11: 80,194,011 S203R possibly damaging Het
Sall1 T A 8: 89,031,661 N605I probably benign Het
Scara3 C T 14: 65,931,154 R338H probably damaging Het
Slc25a14 T C X: 48,637,440 S152P probably benign Het
Strip1 A T 3: 107,620,255 F436I probably damaging Het
Tgfa T C 6: 86,271,421 L135P probably benign Het
Tgif1 T C 17: 70,844,947 Q170R possibly damaging Het
Tmc2 G A 2: 130,229,187 E279K probably damaging Het
Tnks G T 8: 34,848,670 N987K probably benign Het
Traf3ip3 T C 1: 193,194,368 E209G probably damaging Het
Vmn2r73 T A 7: 85,870,260 I497L probably benign Het
Wrn C A 8: 33,310,706 probably null Het
Zcchc24 T C 14: 25,719,662 I193V possibly 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
IGL02808:Pyroxd2 APN 19 42731342 missense probably benign
IGL02831:Pyroxd2 APN 19 42735903 missense probably damaging 0.99
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 On2016-08-02