Incidental Mutation 'IGL03023:Cyp2d9'
ID408041
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d9
Ensembl Gene ENSMUSG00000068086
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 9
SynonymsCyp2d, testosterone 16alpha-hydroxylase, P450-2D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.082) question?
Stock #IGL03023
Quality Score
Status
Chromosome15
Chromosomal Location82433437-82456845 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 82455518 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 313 (T313A)
Ref Sequence ENSEMBL: ENSMUSP00000086530 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000089129] [ENSMUST00000229313] [ENSMUST00000229473] [ENSMUST00000229793] [ENSMUST00000230000] [ENSMUST00000230024] [ENSMUST00000230191] [ENSMUST00000231136]
Predicted Effect probably damaging
Transcript: ENSMUST00000089129
AA Change: T313A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000086530
Gene: ENSMUSG00000068086
AA Change: T313A

DomainStartEndE-ValueType
Pfam:p450 37 497 1.7e-142 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183779
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229181
Predicted Effect probably benign
Transcript: ENSMUST00000229313
Predicted Effect probably benign
Transcript: ENSMUST00000229473
Predicted Effect probably benign
Transcript: ENSMUST00000229793
Predicted Effect probably benign
Transcript: ENSMUST00000230000
Predicted Effect probably damaging
Transcript: ENSMUST00000230024
AA Change: T102A

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect probably benign
Transcript: ENSMUST00000230191
Predicted Effect probably benign
Transcript: ENSMUST00000231136
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd18 A G 3: 40,904,984 D28G probably damaging Het
BC067074 A G 13: 113,351,741 D99G probably benign Het
Btaf1 C T 19: 37,010,015 R1746C possibly damaging Het
Comp T C 8: 70,378,610 probably benign Het
Cyp3a59 T A 5: 146,085,850 D55E probably benign Het
Dysf A G 6: 84,193,007 Y1790C probably damaging Het
Fmo3 A C 1: 162,958,465 F319V probably benign Het
Frem2 A T 3: 53,655,628 V486D probably benign Het
Gucy2c A T 6: 136,702,796 probably null Het
Hdac7 A T 15: 97,797,957 Y674N probably damaging Het
Inpp5a G A 7: 139,525,786 probably null Het
Jup T C 11: 100,380,692 probably benign Het
Krt84 T C 15: 101,528,445 T385A possibly damaging Het
Nbeal1 T C 1: 60,253,413 Y1075H probably damaging Het
Nphp4 A G 4: 152,524,235 probably null Het
Olfr109 A G 17: 37,466,994 T263A probably benign Het
Olfr1178 G A 2: 88,391,343 C32Y probably damaging Het
Olfr1333 A T 4: 118,830,252 F63I probably damaging Het
Psmc4 T A 7: 28,042,860 I264L possibly damaging Het
Rwdd4a T C 8: 47,542,768 V61A probably benign Het
Setx A G 2: 29,145,902 T800A probably benign Het
Vmn1r74 T C 7: 11,847,330 C186R possibly damaging Het
Vsig2 A G 9: 37,542,412 Y136C probably damaging Het
Other mutations in Cyp2d9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00516:Cyp2d9 APN 15 82455094 missense probably benign 0.05
IGL00587:Cyp2d9 APN 15 82455143 missense possibly damaging 0.89
IGL00815:Cyp2d9 APN 15 82456375 missense possibly damaging 0.94
IGL03410:Cyp2d9 APN 15 82456699 missense probably benign 0.00
R0417:Cyp2d9 UTSW 15 82455951 missense probably damaging 1.00
R0627:Cyp2d9 UTSW 15 82455790 missense probably damaging 1.00
R1326:Cyp2d9 UTSW 15 82455156 missense possibly damaging 0.50
R1501:Cyp2d9 UTSW 15 82454324 nonsense probably null
R1893:Cyp2d9 UTSW 15 82452606 missense probably damaging 0.97
R2496:Cyp2d9 UTSW 15 82452479 missense probably damaging 1.00
R2519:Cyp2d9 UTSW 15 82454518 intron probably null
R3155:Cyp2d9 UTSW 15 82452642 critical splice donor site probably null
R4691:Cyp2d9 UTSW 15 82455832 missense probably damaging 1.00
R4727:Cyp2d9 UTSW 15 82454401 start codon destroyed probably null 0.99
R4770:Cyp2d9 UTSW 15 82452573 missense probably damaging 0.98
R5319:Cyp2d9 UTSW 15 82454055 missense probably damaging 1.00
R5486:Cyp2d9 UTSW 15 82452578 missense probably damaging 0.96
R5516:Cyp2d9 UTSW 15 82454327 missense probably null 1.00
R5646:Cyp2d9 UTSW 15 82452464 missense probably benign 0.01
R5898:Cyp2d9 UTSW 15 82455524 missense probably benign 0.02
R6193:Cyp2d9 UTSW 15 82452527 missense probably benign 0.01
R6288:Cyp2d9 UTSW 15 82456415 missense probably damaging 1.00
R6924:Cyp2d9 UTSW 15 82455212 missense probably damaging 1.00
Posted On2016-08-02