Incidental Mutation 'IGL01924:Cyp3a57'
ID180190
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp3a57
Ensembl Gene ENSMUSG00000070419
Gene Namecytochrome P450, family 3, subfamily a, polypeptide 57
SynonymsEG622127
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL01924
Quality Score
Status
Chromosome5
Chromosomal Location145345279-145390926 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 145372629 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000078251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000174696]
Predicted Effect probably benign
Transcript: ENSMUST00000079268
AA Change: D259G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419
AA Change: D259G

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000174696
SMART Domains Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 147 1.8e-21 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb C T 5: 114,223,986 probably benign Het
Adamts13 A G 2: 26,996,583 E938G possibly damaging Het
Aox2 C T 1: 58,287,743 T167I possibly damaging Het
Apba3 G T 10: 81,273,073 A557S probably benign Het
Atad2b T C 12: 5,034,093 L1382P probably damaging Het
Atrn C T 2: 130,935,565 T178I probably damaging Het
B4galnt1 A G 10: 127,166,761 S88G probably benign Het
Baz2b T C 2: 59,935,271 K887E probably damaging Het
Ccdc162 A C 10: 41,569,887 F430V probably damaging Het
Cdc42bpb T A 12: 111,317,453 probably benign Het
Chit1 A G 1: 134,149,410 D317G probably benign Het
Chrnb1 A T 11: 69,795,019 probably benign Het
Cobl G T 11: 12,254,596 T620K probably benign Het
Creld1 T C 6: 113,483,960 F20L probably benign Het
Csmd2 A T 4: 128,559,947 D3475V unknown Het
Dbnl A G 11: 5,797,142 Y224C probably damaging Het
Det1 A T 7: 78,843,823 C144* probably null Het
Fbxo47 G T 11: 97,856,160 A360D probably damaging Het
Frrs1 G A 3: 116,885,239 G237R probably damaging Het
Gatsl2 T C 5: 134,135,602 F134S probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gm21738 G A 14: 19,416,979 S144L probably benign Het
Gm4788 G A 1: 139,739,206 L444F probably damaging Het
Gm5862 A C 5: 26,022,771 W41G probably benign Het
Gria2 T C 3: 80,710,331 T372A probably benign Het
Hmcn2 A T 2: 31,398,917 Q2246L probably benign Het
Ide T C 19: 37,272,164 M930V unknown Het
Kdm5a T C 6: 120,394,255 probably null Het
Khnyn A G 14: 55,894,969 T625A probably benign Het
Lrrtm1 T C 6: 77,244,186 F209L possibly damaging Het
Med13 C A 11: 86,308,696 probably benign Het
Myom2 A G 8: 15,069,685 E147G probably benign Het
Myrip T A 9: 120,388,264 V88D probably damaging Het
Nbeal2 T C 9: 110,631,414 H1784R probably benign Het
Nlrp4e T A 7: 23,320,830 C247* probably null Het
Nup54 G A 5: 92,424,435 P252L probably benign Het
Olfr610 A G 7: 103,506,796 I50T possibly damaging Het
Otoa C A 7: 121,105,968 N244K probably damaging Het
Pbrm1 G A 14: 31,082,604 R960H probably damaging Het
Ptcd3 A T 6: 71,898,427 N190K probably damaging Het
Rhobtb1 T A 10: 69,270,304 L233H probably damaging Het
Sec24c T A 14: 20,689,689 F545I probably damaging Het
Slc6a15 T C 10: 103,404,825 probably null Het
Slitrk1 G A 14: 108,911,239 A680V probably benign Het
Smpd1 C T 7: 105,555,448 S178L probably benign Het
Spindoc A G 19: 7,382,677 L42P probably damaging Het
Tenm4 A G 7: 96,895,212 E2145G probably damaging Het
Tmem144 G T 3: 79,839,194 A18E probably damaging Het
Tmem213 A T 6: 38,109,438 S10C possibly damaging Het
Trav6-3 A T 14: 53,430,343 I102L probably benign Het
Trip11 T G 12: 101,886,884 N483T possibly damaging Het
Unc13b C T 4: 43,239,385 R1056* probably null Het
Wdr27 T G 17: 14,917,226 K433N probably damaging Het
Wls C A 3: 159,901,443 S189* probably null Het
Yeats2 A G 16: 20,206,167 N706D probably damaging Het
Zbp1 A G 2: 173,212,254 V158A probably benign Het
Zfp595 G T 13: 67,317,783 H139N possibly damaging Het
Other mutations in Cyp3a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyp3a57 APN 5 145371024 missense probably damaging 1.00
IGL00656:Cyp3a57 APN 5 145372549 missense possibly damaging 0.55
IGL01368:Cyp3a57 APN 5 145369068 missense probably damaging 0.99
IGL01602:Cyp3a57 APN 5 145387044 missense probably damaging 1.00
IGL01605:Cyp3a57 APN 5 145387044 missense probably damaging 1.00
IGL02191:Cyp3a57 APN 5 145365685 missense probably damaging 1.00
IGL02213:Cyp3a57 APN 5 145381280 missense probably damaging 1.00
IGL02217:Cyp3a57 APN 5 145369143 splice site probably null
R0141:Cyp3a57 UTSW 5 145362102 missense probably benign 0.05
R0720:Cyp3a57 UTSW 5 145390403 splice site probably benign
R0765:Cyp3a57 UTSW 5 145390410 splice site probably benign
R0976:Cyp3a57 UTSW 5 145390468 missense probably benign 0.01
R1494:Cyp3a57 UTSW 5 145381267 missense probably damaging 0.97
R1624:Cyp3a57 UTSW 5 145390415 critical splice acceptor site probably null
R1732:Cyp3a57 UTSW 5 145365645 missense probably damaging 1.00
R1791:Cyp3a57 UTSW 5 145371010 missense probably benign 0.06
R1839:Cyp3a57 UTSW 5 145381301 missense probably damaging 1.00
R1858:Cyp3a57 UTSW 5 145381249 missense probably damaging 1.00
R2095:Cyp3a57 UTSW 5 145369134 nonsense probably null
R2305:Cyp3a57 UTSW 5 145381280 missense probably damaging 1.00
R3954:Cyp3a57 UTSW 5 145349325 critical splice acceptor site probably null
R4289:Cyp3a57 UTSW 5 145349397 missense probably damaging 1.00
R4463:Cyp3a57 UTSW 5 145381274 missense probably damaging 1.00
R4579:Cyp3a57 UTSW 5 145374264 missense probably benign 0.00
R4598:Cyp3a57 UTSW 5 145390417 missense probably benign 0.01
R4678:Cyp3a57 UTSW 5 145370728 splice site probably null
R4853:Cyp3a57 UTSW 5 145365679 missense probably damaging 1.00
R4954:Cyp3a57 UTSW 5 145370955 critical splice acceptor site probably null
R4977:Cyp3a57 UTSW 5 145349426 splice site probably null
R5162:Cyp3a57 UTSW 5 145369083 missense probably damaging 1.00
R5226:Cyp3a57 UTSW 5 145365697 missense probably benign 0.04
R5470:Cyp3a57 UTSW 5 145372619 missense probably benign 0.12
R5568:Cyp3a57 UTSW 5 145370646 missense probably benign 0.01
R5652:Cyp3a57 UTSW 5 145349325 critical splice acceptor site probably null
R5872:Cyp3a57 UTSW 5 145371057 nonsense probably null
R6855:Cyp3a57 UTSW 5 145372566 missense probably damaging 0.97
R6861:Cyp3a57 UTSW 5 145370963 missense possibly damaging 0.85
R6893:Cyp3a57 UTSW 5 145386974 nonsense probably null
R7081:Cyp3a57 UTSW 5 145381373 missense probably damaging 1.00
R7305:Cyp3a57 UTSW 5 145370985 missense probably benign 0.03
Z1177:Cyp3a57 UTSW 5 145365633 missense probably damaging 1.00
Posted On2014-05-07