Incidental Mutation 'IGL00418:Cyp2d11'
ID4068
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: 0.098) question?
Stock #IGL00418
Quality Score
Status
Chromosome15
Chromosomal Location82389154-82394022 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82392468 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 90 (M90K)
Ref Sequence ENSEMBL: ENSMUSP00000130338 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170255]
Predicted Effect probably benign
Transcript: ENSMUST00000170255
AA Change: M90K

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000130338
Gene: ENSMUSG00000068085
AA Change: M90K

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: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A G 12: 55,048,963 I238T probably damaging Het
Akap4 T C X: 7,076,490 V344A possibly damaging Het
Apex2 T C X: 150,572,052 K430E probably benign Het
Aqp9 C T 9: 71,132,731 A90T probably damaging Het
Asb15 T A 6: 24,558,643 probably benign Het
Barhl2 C T 5: 106,455,499 A265T possibly damaging Het
Bspry G T 4: 62,496,105 D312Y probably benign Het
Cdh16 G A 8: 104,623,413 R5W probably benign Het
Ciz1 C T 2: 32,372,388 R461C probably damaging Het
Cldn14 T A 16: 93,919,301 D219V probably benign Het
Clpb A T 7: 101,787,745 T706S probably benign Het
Cyp2j8 T A 4: 96,444,616 I498F possibly damaging Het
Dnah2 A G 11: 69,495,066 probably benign Het
Dpyd T A 3: 118,944,242 F477L probably damaging Het
Dscaml1 C A 9: 45,670,200 S439* probably null Het
Faxc A G 4: 21,958,490 K216E possibly damaging Het
Fmo1 C T 1: 162,836,246 R238Q probably damaging Het
Gm14399 G A 2: 175,131,522 R147* probably null Het
H2-Ab1 G A 17: 34,267,575 V203M probably damaging Het
Heatr5b T C 17: 78,753,141 E2035G probably damaging Het
Hip1 A G 5: 135,426,346 I786T probably damaging Het
Homer1 T C 13: 93,387,688 probably benign Het
Igkv9-120 A G 6: 68,049,987 D2G possibly damaging Het
Irgm1 A T 11: 48,866,005 Y326* probably null Het
Kctd19 A T 8: 105,388,463 probably null Het
Large1 T C 8: 72,823,841 probably null Het
Mzf1 G A 7: 13,044,616 A287V possibly damaging Het
Nes A T 3: 87,976,254 K607* probably null Het
Pars2 T A 4: 106,654,050 V307E probably damaging Het
Pcsk5 T A 19: 17,511,421 I1012F possibly damaging Het
Pole T C 5: 110,303,565 probably benign Het
Rbm14 T C 19: 4,802,548 probably benign Het
Scn2a A T 2: 65,764,522 Q1905L probably benign Het
Slc26a2 A G 18: 61,198,740 F540L probably benign Het
Slco2a1 T C 9: 103,079,441 probably benign Het
Tas2r106 T C 6: 131,677,959 probably null Het
Tmem175 T A 5: 108,645,866 D287E probably benign Het
Trappc12 T C 12: 28,737,836 K416R probably damaging Het
Trim2 A G 3: 84,208,289 L86P probably damaging Het
Vps13c T A 9: 67,876,262 N240K probably damaging Het
Wdr90 A C 17: 25,849,364 I1330S probably damaging Het
Wfdc6a A G 2: 164,584,994 probably null Het
Zc3h12c C T 9: 52,116,665 V466M probably damaging Het
Zswim8 A G 14: 20,718,475 T1025A probably damaging Het
Other mutations in Cyp2d11
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Z1088:Cyp2d11 UTSW 15 82390111 missense probably damaging 0.99
Posted On2012-04-20