Incidental Mutation 'R8963:Cyp2c40'
ID 682532
Institutional Source Beutler Lab
Gene Symbol Cyp2c40
Ensembl Gene ENSMUSG00000025004
Gene Name cytochrome P450, family 2, subfamily c, polypeptide 40
Synonyms
MMRRC Submission 068797-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R8963 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 39755517-39801258 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 39755926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 463 (I463F)
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: I463F

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000125217
Gene: ENSMUSG00000025004
AA Change: I463F

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk T C 11: 119,902,963 (GRCm39) T421A probably damaging Het
Adamts12 T C 15: 11,317,443 (GRCm39) probably null Het
Adgrv1 A T 13: 81,567,588 (GRCm39) V5195E probably benign Het
Adora2b C T 11: 62,139,983 (GRCm39) A19V possibly damaging Het
Ankrd28 A G 14: 31,477,698 (GRCm39) C115R probably benign Het
Ankrd35 T A 3: 96,587,003 (GRCm39) L106* probably null Het
Ankrd44 G A 1: 54,801,538 (GRCm39) A263V probably damaging Het
Apol7b T C 15: 77,308,120 (GRCm39) K125R possibly damaging Het
Cacna1c A T 6: 118,719,232 (GRCm39) L245* probably null Het
Cbll1 A T 12: 31,538,199 (GRCm39) H185Q probably damaging Het
Ccdc150 A C 1: 54,311,641 (GRCm39) N209T probably benign Het
Ccdc88a T A 11: 29,448,416 (GRCm39) N1465K possibly damaging Het
Cfap54 C A 10: 92,864,562 (GRCm39) G124* probably null Het
Chml A T 1: 175,514,601 (GRCm39) L440H probably damaging Het
Chrnd A T 1: 87,122,603 (GRCm39) Q128L probably damaging Het
Clvs2 A T 10: 33,498,677 (GRCm39) D84E probably benign Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,604,874 (GRCm39) probably benign Het
Cyp51 C A 5: 4,136,519 (GRCm39) R425L probably damaging Het
Daam1 A G 12: 71,992,018 (GRCm39) T279A unknown Het
Ebf2 G T 14: 67,665,554 (GRCm39) V571F probably benign Het
Elapor2 T A 5: 9,487,792 (GRCm39) N559K probably damaging Het
Elavl4 A T 4: 110,063,776 (GRCm39) I275N probably damaging Het
F11r A G 1: 171,288,505 (GRCm39) Q116R probably benign Het
Foxred2 T A 15: 77,829,805 (GRCm39) D580V probably benign Het
Gatad1 A C 5: 3,691,544 (GRCm39) L4R probably damaging Het
Gcn1 T A 5: 115,727,153 (GRCm39) M670K probably benign Het
Greb1 A T 12: 16,774,885 (GRCm39) F171I probably damaging Het
Grin2b A G 6: 136,021,007 (GRCm39) V98A probably damaging Het
Helz2 A T 2: 180,871,407 (GRCm39) V2735E probably damaging Het
Hrct1 A T 4: 43,727,564 (GRCm39) probably benign Het
Ighv1-11 C T 12: 114,575,864 (GRCm39) R117K probably damaging Het
Igkv12-46 A T 6: 69,741,754 (GRCm39) S34T probably damaging Het
Il27ra T A 8: 84,767,711 (GRCm39) N71Y probably damaging Het
Iqca1 G T 1: 90,067,649 (GRCm39) H201N probably benign Het
Itgb1bp1 C T 12: 21,324,864 (GRCm39) R64Q probably damaging Het
Katnb1 T C 8: 95,809,519 (GRCm39) L13S probably damaging Het
Kif26b G A 1: 178,743,714 (GRCm39) R1270Q probably benign Het
Klhdc2 A T 12: 69,347,065 (GRCm39) R77* probably null Het
Klra10 A T 6: 130,249,617 (GRCm39) probably null Het
Large1 A T 8: 73,542,612 (GRCm39) I704N probably damaging Het
Lrp1b G A 2: 40,888,196 (GRCm39) H2241Y probably benign Het
Lrpap1 T A 5: 35,255,001 (GRCm39) M212L probably benign Het
Mab21l1 A G 3: 55,690,348 (GRCm39) probably benign Het
Map4k4 A T 1: 40,039,740 (GRCm39) Q44L probably damaging Het
Map7d1 A G 4: 126,130,475 (GRCm39) S412P probably damaging Het
Me1 A T 9: 86,480,844 (GRCm39) F354I probably damaging Het
Nlrp1b A G 11: 71,108,658 (GRCm39) V281A probably damaging Het
Nrip2 A G 6: 128,385,288 (GRCm39) T240A possibly damaging Het
Nsmaf A G 4: 6,428,471 (GRCm39) V203A probably damaging Het
Or12e8 T A 2: 87,187,950 (GRCm39) I54K possibly damaging Het
Or4g17 A T 2: 111,209,645 (GRCm39) Q100L probably damaging Het
Or4n5 A T 14: 50,132,509 (GRCm39) M250K probably benign Het
Or8g2 A G 9: 39,821,495 (GRCm39) Y132C probably damaging Het
P4ha2 T C 11: 54,004,995 (GRCm39) F124L probably benign Het
Pcdha9 A T 18: 37,131,750 (GRCm39) D273V probably benign Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Plxnd1 G T 6: 115,949,506 (GRCm39) S760* probably null Het
Polr1b A G 2: 128,957,576 (GRCm39) T544A probably benign Het
Polr2g T C 19: 8,771,513 (GRCm39) D153G probably damaging Het
Pramel12 T C 4: 143,144,229 (GRCm39) Y192H probably benign Het
Rad51ap2 A C 12: 11,506,255 (GRCm39) E59A possibly damaging Het
Rrm1 A T 7: 102,105,739 (GRCm39) Y285F probably benign Het
Ryr3 A G 2: 112,667,015 (GRCm39) probably null Het
Scaf4 GGCTGCTGCTGCTGCTGCTGCTGCTG GGCTGCTGCTGCTGCTGCTGCTG 16: 90,026,745 (GRCm39) probably benign Het
Sftpd A G 14: 40,905,001 (GRCm39) V30A probably benign Het
Sirt6 A G 10: 81,462,378 (GRCm39) V7A probably benign Het
Ska1 C T 18: 74,330,639 (GRCm39) V188M probably damaging Het
Skint8 G A 4: 111,794,241 (GRCm39) M210I probably benign Het
Slc6a11 A G 6: 114,202,782 (GRCm39) probably null Het
Slc6a2 A T 8: 93,715,702 (GRCm39) H280L probably benign Het
Sptan1 T C 2: 29,873,744 (GRCm39) V208A possibly damaging Het
Taf6l T A 19: 8,752,135 (GRCm39) T518S probably benign Het
Thoc2l T C 5: 104,665,652 (GRCm39) V58A probably benign Het
Tsc22d1 T C 14: 76,656,266 (GRCm39) M59T probably benign Het
Unc5cl A G 17: 48,769,361 (GRCm39) T282A probably benign Het
Vav3 A G 3: 109,590,229 (GRCm39) K260E probably damaging Het
Vmn2r53 A G 7: 12,315,926 (GRCm39) V631A probably damaging Het
Zfp938 A T 10: 82,061,287 (GRCm39) F444L 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
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
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
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'- TTAAATGAGGGCTTCCGTGG -3'
(R):5'- GTGTCTTTGCTTAACTGGATATCC -3'

Sequencing Primer
(F):5'- TCATCTTCATTCCACAGGGATAAAGC -3'
(R):5'- TGCTTAACTGGATATCCATTCAAC -3'
Posted On 2021-08-31