Incidental Mutation 'IGL01120:Cyp3a59'
ID51141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a59
Ensembl Gene ENSMUSG00000061292
Gene Namecytochrome P450, family 3, subfamily a, polypeptide 59
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01120
Quality Score
Status
Chromosome5
Chromosomal Location146079257-146113287 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 146102861 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 315 (S315T)
Ref Sequence ENSEMBL: ENSMUSP00000049494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035571] [ENSMUST00000199212]
Predicted Effect probably damaging
Transcript: ENSMUST00000035571
AA Change: S315T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292
AA Change: S315T

DomainStartEndE-ValueType
Pfam:p450 38 493 5.3e-128 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000199212
SMART Domains Protein: ENSMUSP00000142591
Gene: ENSMUSG00000061292

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
Pfam:p450 38 148 3.3e-20 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210010C04Rik A T 6: 41,031,673 Y236N probably damaging Het
5830411N06Rik T C 7: 140,296,559 L648P probably benign Het
Abhd11 T A 5: 135,011,475 probably null Het
Armcx5 T C X: 135,746,363 I396T probably damaging Het
Atm T C 9: 53,461,122 probably null Het
Atp6v1c2 C T 12: 17,308,293 E88K probably damaging Het
Caskin1 A G 17: 24,505,369 T1044A possibly damaging Het
Ccdc155 G T 7: 45,184,198 S560Y probably damaging Het
Dnaja1 T A 4: 40,730,248 I240N probably damaging Het
Dnttip2 C T 3: 122,278,737 probably benign Het
Elavl2 A T 4: 91,264,072 M136K probably damaging Het
Eml5 C T 12: 98,844,019 V893I probably benign Het
Fbxw4 G T 19: 45,640,516 A2E probably benign Het
Flg2 T G 3: 93,201,168 S168A probably damaging Het
Fndc3a G A 14: 72,556,662 T857I probably benign Het
Gria1 A G 11: 57,317,669 K797E probably damaging Het
Herc1 T C 9: 66,428,880 F1569S probably benign Het
Lrrc45 T C 11: 120,720,010 V524A probably benign Het
Myo19 T C 11: 84,907,278 L708P probably damaging Het
Nup107 A G 10: 117,770,241 probably benign Het
Olfr479 T G 7: 108,055,567 M195R probably damaging Het
Olfr651 T C 7: 104,553,345 V142A probably benign Het
Palm A G 10: 79,816,787 probably benign Het
Phf14 T C 6: 11,962,740 V462A probably damaging Het
Pkhd1l1 G A 15: 44,505,312 probably null Het
Pkp3 T A 7: 141,084,182 L424* probably null Het
Prss29 A G 17: 25,322,133 K184E probably benign Het
Ptcd1 C T 5: 145,152,243 probably benign Het
Pth1r T C 9: 110,727,130 H225R probably damaging Het
Rffl C T 11: 82,806,022 V332I probably damaging Het
Rsl1 T C 13: 67,177,166 probably benign Het
Scn9a T C 2: 66,526,972 K986R probably benign Het
Slc22a15 A G 3: 101,897,166 L181P probably damaging Het
Slc34a1 T A 13: 55,409,071 L241H probably damaging Het
Slc4a4 C A 5: 89,132,379 H354Q probably damaging Het
Sorcs2 T C 5: 36,021,252 E1131G probably damaging Het
Ssc4d C A 5: 135,967,963 D95Y probably damaging Het
Tcte1 A T 17: 45,539,668 D290V probably damaging Het
Thyn1 T A 9: 27,003,774 M74K probably benign Het
Tlr4 C T 4: 66,840,425 T485I probably benign Het
Trem1 A G 17: 48,237,249 T101A probably benign Het
Ttc17 T C 2: 94,371,796 E387G probably damaging Het
Vmn2r103 A T 17: 19,792,997 T127S probably benign Het
Other mutations in Cyp3a59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01129:Cyp3a59 APN 5 146098279 missense probably benign 0.06
IGL01628:Cyp3a59 APN 5 146099819 missense possibly damaging 0.94
IGL01982:Cyp3a59 APN 5 146104735 missense probably benign 0.00
IGL02094:Cyp3a59 APN 5 146104821 missense probably benign 0.05
IGL02140:Cyp3a59 APN 5 146102880 missense probably damaging 1.00
IGL02350:Cyp3a59 APN 5 146079342 missense probably damaging 1.00
IGL02357:Cyp3a59 APN 5 146079342 missense probably damaging 1.00
IGL02445:Cyp3a59 APN 5 146096653 missense probably benign 0.00
IGL02681:Cyp3a59 APN 5 146090746 splice site probably benign
IGL02870:Cyp3a59 APN 5 146098184 missense probably benign
IGL03023:Cyp3a59 APN 5 146085850 missense probably benign 0.02
PIT4802001:Cyp3a59 UTSW 5 146102801 missense probably benign 0.00
R0220:Cyp3a59 UTSW 5 146098270 missense probably benign 0.02
R0532:Cyp3a59 UTSW 5 146096653 nonsense probably null
R1084:Cyp3a59 UTSW 5 146096674 missense probably benign
R1263:Cyp3a59 UTSW 5 146104711 missense probably damaging 1.00
R1573:Cyp3a59 UTSW 5 146102874 missense probably damaging 1.00
R1747:Cyp3a59 UTSW 5 146104758 missense probably benign
R1759:Cyp3a59 UTSW 5 146098250 missense probably benign 0.10
R1812:Cyp3a59 UTSW 5 146102811 missense probably damaging 1.00
R1937:Cyp3a59 UTSW 5 146094377 missense possibly damaging 0.80
R2026:Cyp3a59 UTSW 5 146096288 missense probably damaging 1.00
R2060:Cyp3a59 UTSW 5 146104714 missense probably damaging 1.00
R2355:Cyp3a59 UTSW 5 146099812 missense probably benign 0.09
R3721:Cyp3a59 UTSW 5 146096597 missense probably damaging 0.96
R4013:Cyp3a59 UTSW 5 146079383 missense probably benign 0.01
R4421:Cyp3a59 UTSW 5 146104903 splice site probably null
R4432:Cyp3a59 UTSW 5 146104786 missense probably benign 0.04
R4633:Cyp3a59 UTSW 5 146094438 missense probably damaging 1.00
R4843:Cyp3a59 UTSW 5 146096261 missense possibly damaging 0.61
R4886:Cyp3a59 UTSW 5 146087387 missense probably damaging 1.00
R5236:Cyp3a59 UTSW 5 146102825 missense probably benign 0.20
R5386:Cyp3a59 UTSW 5 146085768 missense probably benign 0.01
R5627:Cyp3a59 UTSW 5 146112854 missense probably benign 0.00
R5792:Cyp3a59 UTSW 5 146099851 missense possibly damaging 0.92
R5935:Cyp3a59 UTSW 5 146090645 nonsense probably null
R6531:Cyp3a59 UTSW 5 146098217 missense probably benign 0.00
R6790:Cyp3a59 UTSW 5 146096333 missense probably benign
R7108:Cyp3a59 UTSW 5 146096333 missense probably benign
R7222:Cyp3a59 UTSW 5 146096575 critical splice acceptor site probably null
R7447:Cyp3a59 UTSW 5 146087405 missense probably benign 0.25
R7457:Cyp3a59 UTSW 5 146104750 missense probably damaging 1.00
R7723:Cyp3a59 UTSW 5 146079344 missense probably benign 0.06
Z1088:Cyp3a59 UTSW 5 146098222 missense probably benign 0.33
Posted On2013-06-21