Incidental Mutation 'IGL01926:Cyp2c40'
ID 180303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp2c40
Ensembl Gene ENSMUSG00000025004
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 40
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # IGL01926
Quality Score
Status
Chromosome 19
Chromosomal Location 39755517-39801258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39791099 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 244 (I244T)
Ref Sequence ENSEMBL: ENSMUSP00000125217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162507] [ENSMUST00000162630]
AlphaFold P56657
Predicted Effect probably benign
Transcript: ENSMUST00000160476
AA Change: I244T

PolyPhen 2 Score 0.251 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: I244T

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
transmembrane domain 32 49 N/A INTRINSIC
Pfam:p450 59 516 9.8e-153 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162434
Predicted Effect probably benign
Transcript: ENSMUST00000162507
SMART Domains Protein: ENSMUSP00000124618
Gene: ENSMUSG00000025004

DomainStartEndE-ValueType
signal peptide 1 25 N/A INTRINSIC
Pfam:p450 30 120 3.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000162630
SMART Domains Protein: ENSMUSP00000123884
Gene: ENSMUSG00000025004

DomainStartEndE-ValueType
low complexity region 5 21 N/A INTRINSIC
transmembrane domain 32 49 N/A INTRINSIC
Pfam:p450 59 193 6.6e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163090
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 C T 11: 110,026,155 (GRCm39) probably benign Het
Ano1 C T 7: 144,164,612 (GRCm39) V671M possibly damaging Het
Atf7ip2 G T 16: 10,059,749 (GRCm39) D430Y probably damaging Het
Atp7b A T 8: 22,501,797 (GRCm39) D740E probably damaging Het
Bbs1 A C 19: 4,952,891 (GRCm39) S191A probably benign Het
Capn5 C T 7: 97,777,679 (GRCm39) probably null Het
Dsg1a G T 18: 20,466,641 (GRCm39) D504Y possibly damaging Het
Eif3a T C 19: 60,758,399 (GRCm39) D793G unknown Het
Exoc4 C A 6: 33,839,077 (GRCm39) D704E probably damaging Het
Fmo5 A C 3: 97,544,797 (GRCm39) T109P probably damaging Het
Ggt5 A G 10: 75,439,935 (GRCm39) I179V probably benign Het
Gm10718 A T 9: 3,025,118 (GRCm39) Y194F probably benign Het
Gm21738 G A 14: 19,416,979 (GRCm38) S144L probably benign Het
Irs1 G T 1: 82,267,680 (GRCm39) R179S probably damaging Het
Jmy A T 13: 93,596,294 (GRCm39) V445E probably damaging Het
Jup C A 11: 100,274,412 (GRCm39) V93F probably benign Het
Krt20 T C 11: 99,328,652 (GRCm39) Y91C probably damaging Het
Mug2 T A 6: 122,013,063 (GRCm39) probably benign Het
Mybpc3 C T 2: 90,965,752 (GRCm39) T1188I possibly damaging Het
Myt1 T C 2: 181,463,790 (GRCm39) L1032P probably benign Het
Naip6 A T 13: 100,436,704 (GRCm39) N606K probably damaging Het
Nfrkb A T 9: 31,325,475 (GRCm39) M973L probably benign Het
Or5aq6 C T 2: 86,923,318 (GRCm39) C141Y probably damaging Het
Or5b120 A T 19: 13,480,105 (GRCm39) T133S possibly damaging Het
Parp8 T C 13: 116,998,838 (GRCm39) probably benign Het
Plekha5 T A 6: 140,471,642 (GRCm39) M131K probably benign Het
Pomt1 T A 2: 32,133,484 (GRCm39) S207T probably benign Het
Prlr T A 15: 10,314,306 (GRCm39) M1K probably null Het
Prr15 A G 6: 54,306,490 (GRCm39) K83E probably damaging Het
Rnf4 A G 5: 34,504,123 (GRCm39) N5S probably benign Het
Sel1l3 T A 5: 53,357,485 (GRCm39) H169L probably benign Het
Slc24a5 A G 2: 124,910,823 (GRCm39) I85V probably benign Het
Tmc2 T C 2: 130,102,160 (GRCm39) I775T possibly damaging Het
Trnau1ap A T 4: 132,046,873 (GRCm39) F141L probably benign Het
Zscan4d A G 7: 10,898,921 (GRCm39) C119R probably damaging Het
Zswim9 A T 7: 12,994,248 (GRCm39) V636D possibly damaging Het
Other mutations in Cyp2c40
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01384:Cyp2c40 APN 19 39,801,027 (GRCm39) missense probably benign 0.17
IGL01660:Cyp2c40 APN 19 39,775,254 (GRCm39) missense probably damaging 0.99
IGL01897:Cyp2c40 APN 19 39,792,217 (GRCm39) nonsense probably null
IGL02078:Cyp2c40 APN 19 39,755,926 (GRCm39) missense probably benign 0.01
IGL02259:Cyp2c40 APN 19 39,792,246 (GRCm39) missense probably benign 0.00
IGL02716:Cyp2c40 APN 19 39,795,980 (GRCm39) missense possibly damaging 0.49
cypriot UTSW 19 39,755,899 (GRCm39) missense probably damaging 0.98
R0269:Cyp2c40 UTSW 19 39,762,340 (GRCm39) missense probably damaging 1.00
R0308:Cyp2c40 UTSW 19 39,766,432 (GRCm39) missense probably damaging 1.00
R0309:Cyp2c40 UTSW 19 39,766,495 (GRCm39) missense possibly damaging 0.51
R0441:Cyp2c40 UTSW 19 39,795,607 (GRCm39) splice site probably benign
R1068:Cyp2c40 UTSW 19 39,801,025 (GRCm39) missense possibly damaging 0.93
R1123:Cyp2c40 UTSW 19 39,801,121 (GRCm39) missense probably benign 0.00
R1443:Cyp2c40 UTSW 19 39,766,415 (GRCm39) missense possibly damaging 0.90
R1506:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 0.96
R1567:Cyp2c40 UTSW 19 39,792,215 (GRCm39) missense probably null 0.99
R1731:Cyp2c40 UTSW 19 39,801,133 (GRCm39) missense probably damaging 1.00
R1774:Cyp2c40 UTSW 19 39,775,250 (GRCm39) missense probably damaging 1.00
R1861:Cyp2c40 UTSW 19 39,775,319 (GRCm39) missense probably benign 0.11
R1977:Cyp2c40 UTSW 19 39,766,485 (GRCm39) missense probably damaging 1.00
R2022:Cyp2c40 UTSW 19 39,801,224 (GRCm39) unclassified probably benign
R2063:Cyp2c40 UTSW 19 39,775,224 (GRCm39) missense probably benign 0.01
R2359:Cyp2c40 UTSW 19 39,766,398 (GRCm39) missense probably damaging 1.00
R2413:Cyp2c40 UTSW 19 39,792,331 (GRCm39) nonsense probably null
R3685:Cyp2c40 UTSW 19 39,775,223 (GRCm39) missense possibly damaging 0.95
R4080:Cyp2c40 UTSW 19 39,790,973 (GRCm39) missense probably benign 0.01
R4614:Cyp2c40 UTSW 19 39,792,300 (GRCm39) missense probably damaging 1.00
R4661:Cyp2c40 UTSW 19 39,775,290 (GRCm39) missense probably benign 0.00
R4716:Cyp2c40 UTSW 19 39,791,105 (GRCm39) splice site probably null
R4799:Cyp2c40 UTSW 19 39,762,293 (GRCm39) missense probably damaging 1.00
R5133:Cyp2c40 UTSW 19 39,795,663 (GRCm39) missense probably benign 0.02
R5191:Cyp2c40 UTSW 19 39,791,035 (GRCm39) missense probably damaging 0.96
R5310:Cyp2c40 UTSW 19 39,766,474 (GRCm39) missense probably damaging 1.00
R5455:Cyp2c40 UTSW 19 39,792,236 (GRCm39) missense possibly damaging 0.75
R5619:Cyp2c40 UTSW 19 39,792,228 (GRCm39) missense probably damaging 1.00
R5989:Cyp2c40 UTSW 19 39,796,024 (GRCm39) missense probably benign 0.45
R6175:Cyp2c40 UTSW 19 39,801,004 (GRCm39) missense probably benign 0.00
R6622:Cyp2c40 UTSW 19 39,790,990 (GRCm39) missense probably damaging 1.00
R6987:Cyp2c40 UTSW 19 39,801,211 (GRCm39) unclassified probably benign
R7057:Cyp2c40 UTSW 19 39,796,063 (GRCm39) missense probably damaging 1.00
R7485:Cyp2c40 UTSW 19 39,796,050 (GRCm39) nonsense probably null
R7560:Cyp2c40 UTSW 19 39,795,658 (GRCm39) missense possibly damaging 0.81
R7648:Cyp2c40 UTSW 19 39,792,289 (GRCm39) makesense probably null
R7718:Cyp2c40 UTSW 19 39,755,782 (GRCm39) missense probably benign 0.00
R7763:Cyp2c40 UTSW 19 39,795,612 (GRCm39) missense possibly damaging 0.90
R7893:Cyp2c40 UTSW 19 39,775,292 (GRCm39) missense probably damaging 0.99
R8094:Cyp2c40 UTSW 19 39,791,015 (GRCm39) missense probably benign 0.00
R8094:Cyp2c40 UTSW 19 39,791,009 (GRCm39) missense probably benign 0.17
R8264:Cyp2c40 UTSW 19 39,795,971 (GRCm39) missense possibly damaging 0.95
R8287:Cyp2c40 UTSW 19 39,755,899 (GRCm39) missense probably damaging 0.98
R8302:Cyp2c40 UTSW 19 39,796,066 (GRCm39) missense probably damaging 1.00
R8848:Cyp2c40 UTSW 19 39,801,244 (GRCm39) missense unknown
R8915:Cyp2c40 UTSW 19 39,795,991 (GRCm39) missense probably benign 0.31
R8963:Cyp2c40 UTSW 19 39,755,926 (GRCm39) missense possibly damaging 0.82
R9132:Cyp2c40 UTSW 19 39,762,317 (GRCm39) missense probably damaging 1.00
R9159:Cyp2c40 UTSW 19 39,762,317 (GRCm39) missense probably damaging 1.00
R9168:Cyp2c40 UTSW 19 39,755,819 (GRCm39) missense probably benign
R9486:Cyp2c40 UTSW 19 39,796,050 (GRCm39) nonsense probably null
R9486:Cyp2c40 UTSW 19 39,755,808 (GRCm39) missense probably benign 0.00
R9489:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 1.00
R9605:Cyp2c40 UTSW 19 39,766,443 (GRCm39) missense probably damaging 1.00
R9772:Cyp2c40 UTSW 19 39,792,348 (GRCm39) missense probably benign
Posted On 2014-05-07