Incidental Mutation 'IGL03259:Cyp2d11'
ID414750
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d11
Ensembl Gene ENSMUSG00000068085
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 11
SynonymsCyp2d, P450-2D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL03259
Quality Score
Status
Chromosome15
Chromosomal Location82389154-82394022 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 82390020 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 387 (V387M)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
Predicted Effect probably damaging
Transcript: ENSMUST00000170255
AA Change: V387M

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: V387M

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
Pfam:p450 37 497 7.7e-140 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183858
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atp8a1 T C 5: 67,624,006 probably null Het
Btbd3 T C 2: 138,279,760 M121T probably damaging Het
Cep192 A T 18: 67,820,412 N500I probably damaging Het
Clca4a A G 3: 144,958,080 L534P probably damaging Het
Dlgap3 T C 4: 127,200,284 I443T probably benign Het
Heatr5b T A 17: 78,791,556 D1305V probably damaging Het
Hps5 G T 7: 46,763,102 P1021Q probably damaging Het
Iqca T C 1: 90,052,434 D637G probably damaging Het
Kank1 A G 19: 25,430,341 D1233G probably damaging Het
Lad1 A T 1: 135,827,656 R223S probably benign Het
Ms4a13 A G 19: 11,183,846 S110P probably damaging Het
Nmd3 T A 3: 69,745,243 D387E possibly damaging Het
Olfr1087 G T 2: 86,690,550 Q142K probably benign Het
Olfr24 A G 9: 18,755,515 V40A probably benign Het
Olfr57 C A 10: 79,035,400 Y201* probably null Het
Pcgf5 T A 19: 36,455,659 D234E probably benign Het
Pcnx2 T A 8: 125,753,649 H1973L probably benign Het
Peak1 A G 9: 56,259,967 F226L probably damaging Het
Pgp A G 17: 24,471,048 K180R probably damaging Het
Sdk1 A T 5: 141,953,033 K404* probably null Het
Serinc5 T A 13: 92,690,992 V272D probably damaging Het
Slc4a5 A G 6: 83,270,997 H395R probably damaging Het
Spice1 T A 16: 44,356,167 V40D probably damaging Het
Syne2 A G 12: 75,989,079 I3713M probably benign Het
Vmn1r58 A T 7: 5,411,087 L48* probably null Het
Vwa7 A G 17: 35,020,026 probably null Het
Other mutations in Cyp2d11
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00418:Cyp2d11 APN 15 82392468 missense probably benign 0.00
IGL00896:Cyp2d11 APN 15 82391074 splice site probably benign
IGL02119:Cyp2d11 APN 15 82390064 missense probably damaging 0.98
IGL02234:Cyp2d11 APN 15 82390139 missense probably benign
IGL02347:Cyp2d11 APN 15 82390480 missense probably benign 0.22
IGL02352:Cyp2d11 APN 15 82393920 missense possibly damaging 0.50
IGL02359:Cyp2d11 APN 15 82393920 missense possibly damaging 0.50
IGL02876:Cyp2d11 APN 15 82389496 missense possibly damaging 0.85
IGL03079:Cyp2d11 APN 15 82390966 missense probably damaging 1.00
FR4340:Cyp2d11 UTSW 15 82390022 frame shift probably null
R0066:Cyp2d11 UTSW 15 82391757 missense probably benign
R0066:Cyp2d11 UTSW 15 82391757 missense probably benign
R0101:Cyp2d11 UTSW 15 82390194 splice site probably benign
R0125:Cyp2d11 UTSW 15 82389221 missense probably benign 0.45
R0973:Cyp2d11 UTSW 15 82389529 missense possibly damaging 0.80
R1466:Cyp2d11 UTSW 15 82391735 missense probably benign 0.00
R1466:Cyp2d11 UTSW 15 82391735 missense probably benign 0.00
R1525:Cyp2d11 UTSW 15 82389297 missense probably damaging 0.98
R1708:Cyp2d11 UTSW 15 82390432 missense probably benign 0.01
R1968:Cyp2d11 UTSW 15 82389548 missense probably benign 0.01
R2117:Cyp2d11 UTSW 15 82391753 missense probably damaging 0.99
R2223:Cyp2d11 UTSW 15 82390131 missense probably benign 0.23
R2405:Cyp2d11 UTSW 15 82389266 missense possibly damaging 0.88
R3745:Cyp2d11 UTSW 15 82391855 missense probably benign 0.31
R4081:Cyp2d11 UTSW 15 82391801 missense possibly damaging 0.86
R4496:Cyp2d11 UTSW 15 82391948 splice site probably benign
R4732:Cyp2d11 UTSW 15 82389227 missense probably benign 0.03
R4733:Cyp2d11 UTSW 15 82389227 missense probably benign 0.03
R4880:Cyp2d11 UTSW 15 82392105 missense probably benign 0.01
R4898:Cyp2d11 UTSW 15 82391023 missense probably benign 0.03
R5045:Cyp2d11 UTSW 15 82391071 critical splice acceptor site probably null
R5328:Cyp2d11 UTSW 15 82391771 missense probably benign 0.04
R5356:Cyp2d11 UTSW 15 82390511 missense probably benign 0.11
R5397:Cyp2d11 UTSW 15 82392078 missense probably damaging 1.00
R5582:Cyp2d11 UTSW 15 82392118 splice site probably null
R6862:Cyp2d11 UTSW 15 82390138 missense probably benign
R7194:Cyp2d11 UTSW 15 82391768 missense probably benign
Z1088:Cyp2d11 UTSW 15 82390111 missense probably damaging 0.99
Posted On2016-08-02