Incidental Mutation 'IGL03233:Cyp4a30b'
ID413972
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4a30b
Ensembl Gene ENSMUSG00000084346
Gene Namecytochrome P450, family 4, subfamily a, polypeptide 30b
SynonymsCyp4a30b-ps, OTTMUSG00000008626
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.121) question?
Stock #IGL03233
Quality Score
Status
Chromosome4
Chromosomal Location115452604-115471062 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 115458970 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Serine at position 298 (T298S)
Ref Sequence ENSEMBL: ENSMUSP00000140857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000119958]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000116278
Predicted Effect probably benign
Transcript: ENSMUST00000119958
AA Change: T298S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000140857
Gene: ENSMUSG00000084346
AA Change: T298S

DomainStartEndE-ValueType
transmembrane domain 10 32 N/A INTRINSIC
Pfam:p450 52 503 1.4e-119 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamtsl1 T C 4: 86,342,120 F856S probably damaging Het
Ak7 A G 12: 105,761,480 D457G probably damaging Het
Ankrd26 G T 6: 118,535,146 probably null Het
Ano5 C A 7: 51,570,368 P405T probably damaging Het
Asah2 T A 19: 32,054,631 N46I probably benign Het
Atg4c A T 4: 99,229,503 Y343F probably benign Het
Cab39 T A 1: 85,842,323 M175K probably benign Het
Cadps2 T C 6: 23,263,601 E1257G probably benign Het
Casc1 A T 6: 145,181,885 Y433N probably damaging Het
Ces1d A G 8: 93,195,079 Y19H probably benign Het
Cst6 T C 19: 5,349,261 D25G probably damaging Het
Dgkk T C X: 6,903,838 L352P probably damaging Het
Dync2h1 A C 9: 7,101,525 F482V possibly damaging Het
Esco1 A G 18: 10,574,877 W208R probably damaging Het
Fbn2 T C 18: 58,102,377 D676G probably benign Het
Foxp3 T C X: 7,587,423 probably benign Het
Gpr108 T A 17: 57,245,042 I123F probably benign Het
Gsdmc4 A T 15: 63,902,860 V24E probably damaging Het
Jam3 C A 9: 27,101,921 V118F probably damaging Het
Kif23 T A 9: 61,926,453 I489F probably benign Het
Lama3 T A 18: 12,481,038 V1288D probably damaging Het
Mark2 G T 19: 7,284,726 H308N possibly damaging Het
Mms19 T C 19: 41,946,913 probably null Het
Neb A T 2: 52,308,301 I477N possibly damaging Het
Npm1 G T 11: 33,156,717 Q204K probably benign Het
Nsun5 G A 5: 135,375,445 V369M probably damaging Het
Olfr1355 C A 10: 78,879,572 Y133* probably null Het
Pcdhb13 T A 18: 37,444,265 N565K probably damaging Het
Pla2r1 A G 2: 60,428,580 F1155L possibly damaging Het
Pus10 T A 11: 23,712,241 W304R probably damaging Het
Rab32 G A 10: 10,546,313 Q221* probably null Het
Rlf A G 4: 121,182,600 probably benign Het
Robo1 A T 16: 72,970,193 I418F probably damaging Het
Slc44a2 T C 9: 21,348,622 I642T possibly damaging Het
Ston2 T A 12: 91,647,853 T594S probably damaging Het
Szt2 T C 4: 118,372,529 T2802A unknown Het
Tshz3 T A 7: 36,770,079 Y498N probably damaging Het
Zfp280b T A 10: 76,039,769 I494N probably damaging Het
Zfp281 A G 1: 136,626,829 Q515R possibly damaging Het
Other mutations in Cyp4a30b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03184:Cyp4a30b APN 4 115459019 missense probably damaging 1.00
R1394:Cyp4a30b UTSW 4 115470892 critical splice acceptor site probably null
R2870:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2870:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2871:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2871:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2872:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2872:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R2873:Cyp4a30b UTSW 4 115458362 missense possibly damaging 0.64
R3818:Cyp4a30b UTSW 4 115459009 missense probably damaging 1.00
R4052:Cyp4a30b UTSW 4 115454342 missense probably benign 0.00
R4684:Cyp4a30b UTSW 4 115455003 missense probably damaging 1.00
R5558:Cyp4a30b UTSW 4 115458866 missense probably damaging 1.00
R5997:Cyp4a30b UTSW 4 115459391 nonsense probably null
R6242:Cyp4a30b UTSW 4 115454390 missense possibly damaging 0.48
R6511:Cyp4a30b UTSW 4 115456708 missense probably damaging 1.00
R6759:Cyp4a30b UTSW 4 115461374 missense probably benign 0.02
R7285:Cyp4a30b UTSW 4 115456651 missense probably damaging 1.00
Posted On2016-08-02