Incidental Mutation 'IGL02331:Cyp2c50'
ID288699
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c50
Ensembl Gene ENSMUSG00000054827
Gene Namecytochrome P450, family 2, subfamily c, polypeptide 50
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.093) question?
Stock #IGL02331
Quality Score
Status
Chromosome19
Chromosomal Location40089688-40113950 bp(+) (GRCm38)
Type of Mutationcritical splice acceptor site
DNA Base Change (assembly) A to T at 40090943 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000079065 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068094] [ENSMUST00000080171]
Predicted Effect probably null
Transcript: ENSMUST00000068094
SMART Domains Protein: ENSMUSP00000068039
Gene: ENSMUSG00000054827

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 225 3.7e-54 PFAM
Pfam:p450 213 428 6.8e-88 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000080171
SMART Domains Protein: ENSMUSP00000079065
Gene: ENSMUSG00000054827

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 487 1.2e-162 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124391
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ace T G 11: 105,971,344 F241L possibly damaging Het
Alx1 A G 10: 103,022,299 F180L possibly damaging Het
Apaf1 T C 10: 91,059,619 D428G probably damaging Het
Arap2 G T 5: 62,649,682 probably benign Het
Arnt2 A G 7: 84,265,624 Y511H probably damaging Het
Bmp7 A T 2: 172,872,931 C362S probably damaging Het
Bpifb9a A G 2: 154,262,387 D250G possibly damaging Het
Ccnk T A 12: 108,189,084 L100H probably damaging Het
Cdh23 T C 10: 60,465,543 I451V probably damaging Het
Cemip A G 7: 83,963,984 probably null Het
Cep78 T A 19: 15,974,415 Q342L probably benign Het
Clca3b T C 3: 144,841,406 probably benign Het
Cpb2 A G 14: 75,283,404 R420G possibly damaging Het
Dbnl T C 11: 5,799,997 *433R probably null Het
Elovl5 T C 9: 77,979,899 S191P possibly damaging Het
Fbxo42 A G 4: 141,167,846 E40G probably benign Het
Fpgt T C 3: 155,087,862 D176G possibly damaging Het
Gm1110 C A 9: 26,913,287 probably null Het
Grik4 A T 9: 42,541,988 S700R probably damaging Het
Herc4 T C 10: 63,264,160 S121P probably benign Het
Hps4 T C 5: 112,369,536 V263A probably benign Het
Hsd11b1 A C 1: 193,240,616 L81R probably damaging Het
Ift122 T C 6: 115,887,324 M310T probably damaging Het
Isg20l2 G T 3: 87,932,087 V202L probably damaging Het
Klf3 A G 5: 64,829,072 K111E probably damaging Het
Kxd1 T C 8: 70,515,440 T128A probably benign Het
Lgals7 A G 7: 28,865,718 T94A probably benign Het
Lrp5 T C 19: 3,591,816 H1382R possibly damaging Het
Muc6 T C 7: 141,640,459 T1434A possibly damaging Het
Mybl2 C T 2: 163,074,685 R419W probably damaging Het
Myo5b A T 18: 74,638,040 probably null Het
Myo7a A G 7: 98,053,182 V2138A possibly damaging Het
Naip1 T A 13: 100,426,796 K620N probably benign Het
Ntrk2 T C 13: 58,846,856 probably null Het
Olfr935 A G 9: 38,995,106 S110P probably damaging Het
Osbpl5 A G 7: 143,709,795 V105A probably benign Het
Pfkp A C 13: 6,597,960 F527V probably benign Het
Pilra C A 5: 137,835,655 G47* probably null Het
Pkdrej C A 15: 85,821,327 C136F probably damaging Het
Ppp1r16a T A 15: 76,691,000 M36K probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rnf40 T C 7: 127,589,827 V124A probably benign Het
St7l A G 3: 104,926,588 T522A probably damaging Het
Stox2 G A 8: 47,191,944 P891L probably damaging Het
Trbv12-1 T C 6: 41,114,038 S115P probably damaging Het
Trpm1 A G 7: 64,235,052 D827G probably benign Het
Ttll6 T A 11: 96,135,747 M119K probably damaging Het
Ufl1 C A 4: 25,251,971 C568F probably damaging Het
Usp29 A T 7: 6,962,156 I333F probably benign Het
Vta1 G A 10: 14,705,394 T23M probably damaging Het
Zswim8 A G 14: 20,723,257 D1771G probably damaging Het
Other mutations in Cyp2c50
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01286:Cyp2c50 APN 19 40092284 missense probably benign 0.12
IGL01463:Cyp2c50 APN 19 40090978 missense probably damaging 1.00
IGL01669:Cyp2c50 APN 19 40098051 missense probably damaging 1.00
IGL02008:Cyp2c50 APN 19 40091099 nonsense probably null
IGL02830:Cyp2c50 APN 19 40098056 missense probably benign 0.00
R0115:Cyp2c50 UTSW 19 40092393 splice site probably benign
R1666:Cyp2c50 UTSW 19 40091055 missense probably benign
R1668:Cyp2c50 UTSW 19 40091055 missense probably benign
R1679:Cyp2c50 UTSW 19 40111415 missense possibly damaging 0.93
R2425:Cyp2c50 UTSW 19 40089848 missense probably benign 0.20
R2509:Cyp2c50 UTSW 19 40090569 missense probably benign
R2570:Cyp2c50 UTSW 19 40090320 missense probably benign 0.01
R3040:Cyp2c50 UTSW 19 40098126 missense probably benign 0.02
R3983:Cyp2c50 UTSW 19 40113518 missense possibly damaging 0.64
R4425:Cyp2c50 UTSW 19 40090692 missense possibly damaging 0.94
R4484:Cyp2c50 UTSW 19 40090639 missense probably damaging 1.00
R4520:Cyp2c50 UTSW 19 40090689 missense probably benign 0.02
R4820:Cyp2c50 UTSW 19 40113580 missense probably damaging 1.00
R4978:Cyp2c50 UTSW 19 40098057 missense probably damaging 1.00
R5335:Cyp2c50 UTSW 19 40090616 missense probably benign 0.00
R5807:Cyp2c50 UTSW 19 40113500 missense probably damaging 1.00
R5955:Cyp2c50 UTSW 19 40090943 critical splice acceptor site probably null
R6553:Cyp2c50 UTSW 19 40090602 missense probably benign 0.41
R6560:Cyp2c50 UTSW 19 40096855 missense probably benign 0.03
R7241:Cyp2c50 UTSW 19 40090568 missense probably benign
R7389:Cyp2c50 UTSW 19 40090663 missense probably benign 0.01
R7511:Cyp2c50 UTSW 19 40092190 splice site probably null
Z1088:Cyp2c50 UTSW 19 40097955 missense possibly damaging 0.59
Posted On2015-04-16