Incidental Mutation 'R3685:Cyp2c40'
ID 269514
Institutional Source Beutler Lab
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: 0.126) question?
Stock # R3685 (G1)
Quality Score 142
Status Not validated
Chromosome 19
Chromosomal Location 39755517-39801258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 39775223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Threonine at position 343 (M343T)
Ref Sequence ENSEMBL: ENSMUSP00000125217 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000160476] [ENSMUST00000162630]
AlphaFold P56657
Predicted Effect possibly damaging
Transcript: ENSMUST00000160476
AA Change: M343T

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: M343T

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 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
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 20 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahdc1 T C 4: 132,793,013 (GRCm39) L1418P possibly damaging Het
Atp13a5 G C 16: 29,135,573 (GRCm39) L340V probably damaging Het
Cdon A G 9: 35,400,328 (GRCm39) E1014G possibly damaging Het
Dmrtc2 T C 7: 24,573,687 (GRCm39) V174A probably benign Het
Ggta1 T A 2: 35,298,000 (GRCm39) T162S probably benign Het
Gm9637 A G 14: 19,401,950 (GRCm38) noncoding transcript Het
Gpbp1 T C 13: 111,603,405 (GRCm39) T15A probably benign Het
Itih5 A T 2: 10,243,435 (GRCm39) N391Y possibly damaging Het
Klhl40 A G 9: 121,611,724 (GRCm39) E579G probably damaging Het
Or4a73 C A 2: 89,421,099 (GRCm39) R120L probably damaging Het
Or4c118 A T 2: 88,975,364 (GRCm39) M1K probably null Het
Or5d37 T A 2: 87,923,603 (GRCm39) I226F probably damaging Het
Prr16 C A 18: 51,435,892 (GRCm39) P124T probably damaging Het
Ribc2 A G 15: 85,019,535 (GRCm39) T106A possibly damaging Het
Slc37a1 C A 17: 31,544,667 (GRCm39) T253N probably benign Het
Smpd1 T A 7: 105,204,609 (GRCm39) C163S probably damaging Het
Tacc2 A G 7: 130,226,800 (GRCm39) S1162G probably benign Het
Tenm2 C A 11: 35,942,644 (GRCm39) V1342L probably benign Het
Trim34a T C 7: 103,909,333 (GRCm39) probably null Het
Zfand6 G A 7: 84,283,570 (GRCm39) P11S probably 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
IGL01926:Cyp2c40 APN 19 39,791,099 (GRCm39) missense probably benign 0.25
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
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
Predicted Primers PCR Primer
(F):5'- TGGCTTTTCAACTGCTCAGG -3'
(R):5'- TCTACACCACAGTCTCTGAAATGG -3'

Sequencing Primer
(F):5'- CAACTGCTCAGGTATCTTCATTTAC -3'
(R):5'- CCACAGTCTCTGAAATGGTATAAAAG -3'
Posted On 2015-02-19