Incidental Mutation 'IGL03079:Cyp2d11'
ID417783
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: 0.121) question?
Stock #IGL03079
Quality Score
Status
Chromosome15
Chromosomal Location82389154-82394022 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 82390966 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 260 (E260G)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
Predicted Effect probably damaging
Transcript: ENSMUST00000170255
AA Change: E260G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: E260G

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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alx1 T A 10: 103,009,348 H274L probably damaging Het
Arl6ip4 A T 5: 124,116,927 H59L possibly damaging Het
C1ra A G 6: 124,519,835 Y410C probably damaging Het
Ceacam11 A G 7: 17,978,436 N270S probably benign Het
Cmtr1 T A 17: 29,663,293 N39K possibly damaging Het
Cmya5 T C 13: 93,097,701 D293G possibly damaging Het
Dnajc13 C T 9: 104,212,869 W700* probably null Het
Efemp2 G T 19: 5,475,127 L20F probably damaging Het
Grasp T C 15: 101,230,567 V162A probably damaging Het
Hars G A 18: 36,770,503 L289F probably damaging Het
Hdlbp A G 1: 93,413,940 probably benign Het
Iqgap3 A T 3: 88,113,170 M374L probably benign Het
Lrig2 A T 3: 104,490,971 W281R probably damaging Het
Lyg2 C T 1: 37,907,646 E185K possibly damaging Het
Maml2 A G 9: 13,621,616 probably benign Het
March11 T C 15: 26,311,058 S207P probably damaging Het
Nipa2 A T 7: 55,933,457 V180E probably damaging Het
Olfr731 A T 14: 50,238,124 C254S possibly damaging Het
P2rx5 A G 11: 73,164,888 D57G possibly damaging Het
Pxdn T C 12: 30,002,998 I1058T probably damaging Het
Rxfp3 C A 15: 11,036,823 M154I possibly damaging Het
Slc3a1 T A 17: 85,059,823 Y479* probably null Het
Tecrl G A 5: 83,294,600 H209Y probably damaging Het
Ttll5 T C 12: 85,876,558 Y270H probably damaging Het
Usp34 A G 11: 23,432,247 E1986G possibly damaging Het
Zfp719 A G 7: 43,591,166 Y726C probably damaging Het
Zfp810 T C 9: 22,284,127 E7G probably damaging 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
IGL03259:Cyp2d11 APN 15 82390020 missense probably damaging 0.99
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
R8097:Cyp2d11 UTSW 15 82390380 critical splice donor site probably null
R8122:Cyp2d11 UTSW 15 82392543 missense probably benign 0.27
R8152:Cyp2d11 UTSW 15 82392487 missense probably benign
R8194:Cyp2d11 UTSW 15 82390437 missense probably damaging 1.00
R8531:Cyp2d11 UTSW 15 82389228 missense probably benign
Z1088:Cyp2d11 UTSW 15 82390111 missense probably damaging 0.99
Z1177:Cyp2d11 UTSW 15 82392499 missense probably damaging 0.96
Posted On2016-08-02