Incidental Mutation 'IGL01293:Cyp2d10'
ID72970
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2d10
Ensembl Gene ENSMUSG00000094806
Gene Namecytochrome P450, family 2, subfamily d, polypeptide 10
SynonymsCyp2d, P450-2D
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.248) question?
Stock #IGL01293
Quality Score
Status
Chromosome15
Chromosomal Location82402846-82407195 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 82403009 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 471 (V471E)
Ref Sequence ENSEMBL: ENSMUSP00000072555 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000072776] [ENSMUST00000229628] [ENSMUST00000229911] [ENSMUST00000230198] [ENSMUST00000230248] [ENSMUST00000230843]
Predicted Effect possibly damaging
Transcript: ENSMUST00000072776
AA Change: V471E

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000072555
Gene: ENSMUSG00000094806
AA Change: V471E

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:p450 37 497 6e-143 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183705
Predicted Effect probably benign
Transcript: ENSMUST00000229628
Predicted Effect probably benign
Transcript: ENSMUST00000229911
AA Change: V302E

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
Predicted Effect unknown
Transcript: ENSMUST00000230198
AA Change: C424S
Predicted Effect probably benign
Transcript: ENSMUST00000230248
Predicted Effect probably benign
Transcript: ENSMUST00000230843
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl3 A G 4: 144,463,656 V25A probably benign Het
Aagab T C 9: 63,636,469 V235A probably benign Het
Ash1l T C 3: 88,983,529 V905A probably benign Het
Atrx A G X: 105,876,195 S641P probably benign Het
Bnc1 T C 7: 81,974,489 E330G probably damaging Het
Cenpq A T 17: 40,933,176 S4T possibly damaging Het
Clvs1 T A 4: 9,281,559 M1K probably null Het
Cul2 A G 18: 3,419,426 K196E probably damaging Het
Efhc2 T A X: 17,207,695 I469L probably benign Het
Fhod3 C T 18: 25,020,652 probably benign Het
Gm1968 A G 16: 29,958,814 noncoding transcript Het
Gm438 G T 4: 144,777,589 H331N probably benign Het
Hpdl T A 4: 116,820,944 T107S possibly damaging Het
Il1rl1 G A 1: 40,446,216 G276D possibly damaging Het
Irgq A G 7: 24,533,724 D330G probably damaging Het
Kdm4b A G 17: 56,353,019 D62G probably benign Het
Lama2 T C 10: 27,231,636 T793A probably benign Het
Lrrk2 T C 15: 91,726,137 F691L probably benign Het
Macf1 C T 4: 123,471,311 G1654E probably benign Het
Mgat4c A T 10: 102,388,225 Y100F probably benign Het
Ncapg A G 5: 45,681,854 N532S probably benign Het
Nfkb1 T C 3: 135,590,839 D782G probably damaging Het
Nthl1 G T 17: 24,638,709 C294F probably damaging Het
Obp2b A G 2: 25,737,707 H45R probably benign Het
Olfm1 A G 2: 28,214,703 E156G probably damaging Het
Olfr113 A G 17: 37,575,417 I2T probably benign Het
Olfr847 C A 9: 19,375,336 A182S probably benign Het
Otud6b A G 4: 14,822,682 probably benign Het
Patl2 T C 2: 122,123,810 T427A probably benign Het
Pdzd8 T A 19: 59,299,786 R1061W probably damaging Het
Plk3 A T 4: 117,132,997 L137* probably null Het
Rps6ka6 T C X: 111,450,362 probably benign Het
Shank1 T C 7: 44,354,236 V1784A possibly damaging Het
Smc1b A T 15: 85,131,898 S14T probably damaging Het
Sox4 C A 13: 28,952,681 R114L probably damaging Het
Speg C T 1: 75,388,102 R221W probably damaging Het
Tram1l1 T C 3: 124,322,139 V316A probably benign Het
Virma G T 4: 11,521,114 K840N probably damaging Het
Vmn1r49 A T 6: 90,072,412 S203T probably damaging Het
Wdr1 T C 5: 38,529,543 T293A probably benign Het
Xirp2 C T 2: 67,515,184 P2590S possibly damaging Het
Zfp106 T C 2: 120,535,035 Y297C possibly damaging Het
Zfp128 A G 7: 12,891,424 *573W probably null Het
Zfp575 G A 7: 24,585,757 P153L probably damaging Het
Other mutations in Cyp2d10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00490:Cyp2d10 APN 15 82403314 missense possibly damaging 0.71
IGL00840:Cyp2d10 APN 15 82404490 missense probably benign 0.40
IGL01339:Cyp2d10 APN 15 82403841 missense probably benign 0.33
IGL01871:Cyp2d10 APN 15 82403885 missense probably damaging 1.00
IGL02132:Cyp2d10 APN 15 82404607 intron probably benign
IGL02713:Cyp2d10 APN 15 82406082 unclassified probably benign
IGL02869:Cyp2d10 APN 15 82403868 missense possibly damaging 0.84
R0102:Cyp2d10 UTSW 15 82404593 missense probably benign 0.01
R0102:Cyp2d10 UTSW 15 82404593 missense probably benign 0.01
R0279:Cyp2d10 UTSW 15 82405339 missense possibly damaging 0.94
R0331:Cyp2d10 UTSW 15 82407026 missense probably benign 0.12
R1344:Cyp2d10 UTSW 15 82405905 critical splice donor site probably null
R1418:Cyp2d10 UTSW 15 82405905 critical splice donor site probably null
R1465:Cyp2d10 UTSW 15 82403928 intron probably null
R1465:Cyp2d10 UTSW 15 82403928 intron probably null
R1706:Cyp2d10 UTSW 15 82405582 missense probably damaging 0.96
R1712:Cyp2d10 UTSW 15 82403039 missense probably damaging 1.00
R1940:Cyp2d10 UTSW 15 82405294 missense probably benign 0.13
R1983:Cyp2d10 UTSW 15 82405999 missense probably benign 0.15
R2056:Cyp2d10 UTSW 15 82403814 missense probably damaging 1.00
R2058:Cyp2d10 UTSW 15 82403814 missense probably damaging 1.00
R3707:Cyp2d10 UTSW 15 82403016 missense possibly damaging 0.91
R3708:Cyp2d10 UTSW 15 82403016 missense possibly damaging 0.91
R4042:Cyp2d10 UTSW 15 82406068 missense probably benign 0.33
R4531:Cyp2d10 UTSW 15 82405261 missense probably benign 0.31
R4694:Cyp2d10 UTSW 15 82404483 missense probably damaging 1.00
R4869:Cyp2d10 UTSW 15 82403766 missense probably benign 0.00
R5071:Cyp2d10 UTSW 15 82403753 missense probably benign 0.07
R5072:Cyp2d10 UTSW 15 82403753 missense probably benign 0.07
R5073:Cyp2d10 UTSW 15 82403753 missense probably benign 0.07
R5074:Cyp2d10 UTSW 15 82403753 missense probably benign 0.07
R5746:Cyp2d10 UTSW 15 82405271 missense probably benign 0.38
R7096:Cyp2d10 UTSW 15 82405261 missense probably benign
R7212:Cyp2d10 UTSW 15 82404246 critical splice acceptor site probably null
R7324:Cyp2d10 UTSW 15 82403760 missense probably damaging 0.97
R7487:Cyp2d10 UTSW 15 82404592 missense probably benign 0.00
X0063:Cyp2d10 UTSW 15 82406000 missense probably benign 0.01
Posted On2013-10-07