Incidental Mutation 'IGL01964:Cyp3a16'
ID181501
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a16
Ensembl Gene ENSMUSG00000038656
Gene Namecytochrome P450, family 3, subfamily a, polypeptide 16
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.151) question?
Stock #IGL01964
Quality Score
Status
Chromosome5
Chromosomal Location145436309-145469723 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 145455562 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 194 (D194E)
Ref Sequence ENSEMBL: ENSMUSP00000031633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031633]
Predicted Effect probably benign
Transcript: ENSMUST00000031633
AA Change: D194E

PolyPhen 2 Score 0.405 (Sensitivity: 0.89; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: D194E

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:p450 38 494 5.5e-132 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aknad1 T C 3: 108,778,277 V579A probably benign Het
Ankrd11 A G 8: 122,889,736 I2438T probably damaging Het
Cdh11 A G 8: 102,664,743 V287A probably benign Het
Cdyl2 G A 8: 116,624,029 S121L probably benign Het
Cyp2e1 A T 7: 140,763,866 I6F probably damaging Het
Eapp G T 12: 54,685,935 P126Q probably damaging Het
Efr3b A T 12: 3,982,928 L143Q probably damaging Het
Gm5346 A C 8: 43,626,761 I142S probably benign Het
Grin2c C T 11: 115,253,847 E618K probably damaging Het
Haus3 A T 5: 34,166,061 Y402N probably benign Het
Iffo1 A G 6: 125,151,401 D316G probably damaging Het
Kctd19 A T 8: 105,388,525 M468K probably damaging Het
Kdm4b T A 17: 56,389,256 probably null Het
Naip6 T A 13: 100,298,730 probably benign Het
Olfr178 A T 16: 58,889,464 I252K probably damaging Het
Polr3c T C 3: 96,711,975 probably benign Het
Poteg A T 8: 27,448,008 E60V probably damaging Het
Rnd2 T C 11: 101,470,806 probably null Het
Rufy3 A G 5: 88,615,070 Q153R probably damaging Het
Shank1 T A 7: 44,325,678 I399N unknown Het
Sin3a T C 9: 57,107,347 probably benign Het
Sppl2b T A 10: 80,865,386 probably null Het
Srgap1 G A 10: 121,804,966 P665L possibly damaging Het
Srgap2 G T 1: 131,289,578 Q999K probably benign Het
Tbxas1 G A 6: 39,083,814 V496I probably benign Het
Vmn1r198 A G 13: 22,354,406 M21V probably benign Het
Wdr90 T C 17: 25,848,409 I1479V probably benign Het
Other mutations in Cyp3a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Cyp3a16 APN 5 145440434 missense probably damaging 0.98
IGL02007:Cyp3a16 APN 5 145441948 splice site probably benign
IGL02139:Cyp3a16 APN 5 145455480 missense probably benign 0.10
IGL02177:Cyp3a16 APN 5 145450154 missense probably benign 0.43
IGL02407:Cyp3a16 APN 5 145451842 missense probably damaging 0.99
IGL02473:Cyp3a16 APN 5 145440494 missense possibly damaging 0.54
polywog UTSW 5 145467470 nonsense probably null
R0363:Cyp3a16 UTSW 5 145455879 splice site probably benign
R0556:Cyp3a16 UTSW 5 145455980 missense probably benign 0.37
R0557:Cyp3a16 UTSW 5 145469588 missense unknown
R0636:Cyp3a16 UTSW 5 145463085 missense probably benign 0.03
R0749:Cyp3a16 UTSW 5 145456177 critical splice acceptor site probably null
R0788:Cyp3a16 UTSW 5 145465076 missense probably benign 0.00
R1552:Cyp3a16 UTSW 5 145436536 missense probably benign 0.01
R1575:Cyp3a16 UTSW 5 145436457 missense probably benign 0.01
R1580:Cyp3a16 UTSW 5 145442074 missense possibly damaging 0.94
R1580:Cyp3a16 UTSW 5 145442075 missense probably damaging 1.00
R1642:Cyp3a16 UTSW 5 145469589 missense unknown
R1763:Cyp3a16 UTSW 5 145465031 critical splice donor site probably null
R2029:Cyp3a16 UTSW 5 145451857 missense probably damaging 0.96
R2144:Cyp3a16 UTSW 5 145456084 missense probably damaging 1.00
R2409:Cyp3a16 UTSW 5 145440367 missense probably benign 0.01
R2473:Cyp3a16 UTSW 5 145455594 missense possibly damaging 0.79
R2860:Cyp3a16 UTSW 5 145455499 nonsense probably null
R2861:Cyp3a16 UTSW 5 145455499 nonsense probably null
R3747:Cyp3a16 UTSW 5 145442071 missense probably damaging 1.00
R4654:Cyp3a16 UTSW 5 145436457 missense probably benign 0.01
R4781:Cyp3a16 UTSW 5 145456112 missense possibly damaging 0.85
R4873:Cyp3a16 UTSW 5 145452849 missense probably benign 0.01
R4875:Cyp3a16 UTSW 5 145452849 missense probably benign 0.01
R4925:Cyp3a16 UTSW 5 145452834 missense probably benign 0.00
R5365:Cyp3a16 UTSW 5 145452787 missense probably damaging 1.00
R5496:Cyp3a16 UTSW 5 145467531 missense probably damaging 1.00
R5640:Cyp3a16 UTSW 5 145452823 missense possibly damaging 0.94
R5761:Cyp3a16 UTSW 5 145442033 missense possibly damaging 0.79
R6401:Cyp3a16 UTSW 5 145440364 missense probably damaging 1.00
R6526:Cyp3a16 UTSW 5 145455895 missense probably benign 0.01
R6528:Cyp3a16 UTSW 5 145440431 missense probably damaging 1.00
R7000:Cyp3a16 UTSW 5 145463170 critical splice acceptor site probably null
R7268:Cyp3a16 UTSW 5 145467470 nonsense probably null
R7630:Cyp3a16 UTSW 5 145436310 splice site probably null
Posted On2014-05-07