Incidental Mutation 'R4954:Cyp3a57'
ID 381477
Institutional Source Beutler Lab
Gene Symbol Cyp3a57
Ensembl Gene ENSMUSG00000070419
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 57
Synonyms EG622127
MMRRC Submission 042551-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4954 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145282089-145327736 bp(+) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) A to T at 145307765 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000078251 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079268] [ENSMUST00000079268] [ENSMUST00000174696] [ENSMUST00000174696]
AlphaFold D3YYZ0
Predicted Effect probably null
Transcript: ENSMUST00000079268
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 493 6.5e-131 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000079268
SMART Domains Protein: ENSMUSP00000078251
Gene: ENSMUSG00000070419

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
Predicted Effect probably benign
Transcript: ENSMUST00000174696
SMART Domains Protein: ENSMUSP00000133600
Gene: ENSMUSG00000070419

DomainStartEndE-ValueType
Pfam:p450 38 147 1.8e-21 PFAM
Meta Mutation Damage Score 0.9483 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.7%
Validation Efficiency 100% (66/66)
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 G A 12: 118,875,169 (GRCm39) H668Y probably benign Het
Alk C T 17: 72,209,687 (GRCm39) W919* probably null Het
Aoc3 G A 11: 101,222,925 (GRCm39) G387D probably damaging Het
Arhgap26 T A 18: 39,376,694 (GRCm39) C441S probably benign Het
Arhgap28 C A 17: 68,176,008 (GRCm39) E100* probably null Het
Ate1 C T 7: 130,110,748 (GRCm39) G186D probably benign Het
Birc6 T A 17: 74,919,026 (GRCm39) L1948H probably damaging Het
Bmp2k C T 5: 97,234,623 (GRCm39) probably benign Het
Ccin A T 4: 43,985,077 (GRCm39) I495F probably benign Het
Cir1 T A 2: 73,140,848 (GRCm39) E40D probably benign Het
Dennd1b A G 1: 138,981,124 (GRCm39) T113A probably damaging Het
Dnah2 G A 11: 69,430,322 (GRCm39) P79S possibly damaging Het
Dync1h1 C A 12: 110,624,560 (GRCm39) T3700N probably damaging Het
Dync2i1 T C 12: 116,219,645 (GRCm39) D99G probably damaging Het
Enpep A T 3: 129,077,829 (GRCm39) I596N probably damaging Het
Eps15 G A 4: 109,227,875 (GRCm39) probably null Het
Ext1 T C 15: 53,207,888 (GRCm39) D291G probably damaging Het
Gm12883 T C 4: 121,252,198 (GRCm39) noncoding transcript Het
Gm9921 A G 12: 45,484,383 (GRCm39) noncoding transcript Het
H2-T22 C A 17: 36,352,851 (GRCm39) W85C probably damaging Het
Heatr1 G A 13: 12,422,397 (GRCm39) probably null Het
Hspa4l T A 3: 40,739,832 (GRCm39) probably null Het
Kcnc3 CTT CT 7: 44,240,720 (GRCm39) probably null Het
Kpna1 T C 16: 35,853,696 (GRCm39) V442A probably damaging Het
Mogat2 T C 7: 98,887,724 (GRCm39) T17A possibly damaging Het
Musk C T 4: 58,344,222 (GRCm39) T285I probably damaging Het
Myorg G A 4: 41,498,241 (GRCm39) A463V possibly damaging Het
Nbea T G 3: 55,943,379 (GRCm39) Q632P probably damaging Het
Ncoa3 T C 2: 165,907,706 (GRCm39) V1105A probably benign Het
Neb T C 2: 52,067,530 (GRCm39) probably null Het
Nlrp4e A T 7: 23,061,318 (GRCm39) K970* probably null Het
Oog2 A T 4: 143,917,302 (GRCm39) probably benign Het
Or13g1 T C 7: 85,955,809 (GRCm39) I171V probably benign Het
Or2a57 A G 6: 43,213,318 (GRCm39) M259V probably benign Het
Or52a24 A G 7: 103,381,414 (GRCm39) I94V probably damaging Het
Otos T C 1: 92,572,167 (GRCm39) Y53C probably damaging Het
Oxct2a A T 4: 123,216,252 (GRCm39) C376* probably null Het
Pate12 A T 9: 36,344,156 (GRCm39) K46N probably benign Het
Phf14 C A 6: 11,987,619 (GRCm39) Q633K probably benign Het
Pkdrej T A 15: 85,700,602 (GRCm39) N1778I probably damaging Het
Psmc3 C T 2: 90,885,974 (GRCm39) probably benign Het
Rbm33 A T 5: 28,544,274 (GRCm39) I177F probably damaging Het
Rps6ka2 A G 17: 7,539,003 (GRCm39) D307G probably benign Het
Rps6ka2 G A 17: 7,566,685 (GRCm39) V648I probably benign Het
Scn11a C T 9: 119,587,725 (GRCm39) V1340M possibly damaging Het
Sema7a T C 9: 57,863,663 (GRCm39) W279R probably damaging Het
Slc2a10 A T 2: 165,356,675 (GRCm39) I112F probably damaging Het
Stk4 C A 2: 163,993,601 (GRCm39) S77R possibly damaging Het
Stk4 T A 2: 163,993,602 (GRCm39) W78R probably damaging Het
Syf2 T A 4: 134,662,283 (GRCm39) L99* probably null Het
Tas2r104 A T 6: 131,661,968 (GRCm39) I247K probably damaging Het
Usp15 G T 10: 122,967,303 (GRCm39) R368S probably damaging Het
Usp5 C G 6: 124,799,593 (GRCm39) K318N possibly damaging Het
Vmn2r2 T A 3: 64,047,905 (GRCm39) L20F probably benign Het
Zcchc4 A T 5: 52,976,559 (GRCm39) H451L probably damaging Het
Other mutations in Cyp3a57
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00334:Cyp3a57 APN 5 145,307,834 (GRCm39) missense probably damaging 1.00
IGL00656:Cyp3a57 APN 5 145,309,359 (GRCm39) missense possibly damaging 0.55
IGL01368:Cyp3a57 APN 5 145,305,878 (GRCm39) missense probably damaging 0.99
IGL01602:Cyp3a57 APN 5 145,323,854 (GRCm39) missense probably damaging 1.00
IGL01605:Cyp3a57 APN 5 145,323,854 (GRCm39) missense probably damaging 1.00
IGL01924:Cyp3a57 APN 5 145,309,439 (GRCm39) missense probably benign
IGL02191:Cyp3a57 APN 5 145,302,495 (GRCm39) missense probably damaging 1.00
IGL02213:Cyp3a57 APN 5 145,318,090 (GRCm39) missense probably damaging 1.00
IGL02217:Cyp3a57 APN 5 145,305,953 (GRCm39) splice site probably null
R0141:Cyp3a57 UTSW 5 145,298,912 (GRCm39) missense probably benign 0.05
R0720:Cyp3a57 UTSW 5 145,327,213 (GRCm39) splice site probably benign
R0765:Cyp3a57 UTSW 5 145,327,220 (GRCm39) splice site probably benign
R0976:Cyp3a57 UTSW 5 145,327,278 (GRCm39) missense probably benign 0.01
R1494:Cyp3a57 UTSW 5 145,318,077 (GRCm39) missense probably damaging 0.97
R1624:Cyp3a57 UTSW 5 145,327,225 (GRCm39) critical splice acceptor site probably null
R1732:Cyp3a57 UTSW 5 145,302,455 (GRCm39) missense probably damaging 1.00
R1791:Cyp3a57 UTSW 5 145,307,820 (GRCm39) missense probably benign 0.06
R1839:Cyp3a57 UTSW 5 145,318,111 (GRCm39) missense probably damaging 1.00
R1858:Cyp3a57 UTSW 5 145,318,059 (GRCm39) missense probably damaging 1.00
R2095:Cyp3a57 UTSW 5 145,305,944 (GRCm39) nonsense probably null
R2305:Cyp3a57 UTSW 5 145,318,090 (GRCm39) missense probably damaging 1.00
R3954:Cyp3a57 UTSW 5 145,286,135 (GRCm39) critical splice acceptor site probably null
R4289:Cyp3a57 UTSW 5 145,286,207 (GRCm39) missense probably damaging 1.00
R4463:Cyp3a57 UTSW 5 145,318,084 (GRCm39) missense probably damaging 1.00
R4579:Cyp3a57 UTSW 5 145,311,074 (GRCm39) missense probably benign 0.00
R4598:Cyp3a57 UTSW 5 145,327,227 (GRCm39) missense probably benign 0.01
R4678:Cyp3a57 UTSW 5 145,307,538 (GRCm39) splice site probably null
R4853:Cyp3a57 UTSW 5 145,302,489 (GRCm39) missense probably damaging 1.00
R4977:Cyp3a57 UTSW 5 145,286,236 (GRCm39) splice site probably null
R5162:Cyp3a57 UTSW 5 145,305,893 (GRCm39) missense probably damaging 1.00
R5226:Cyp3a57 UTSW 5 145,302,507 (GRCm39) missense probably benign 0.04
R5470:Cyp3a57 UTSW 5 145,309,429 (GRCm39) missense probably benign 0.12
R5568:Cyp3a57 UTSW 5 145,307,456 (GRCm39) missense probably benign 0.01
R5652:Cyp3a57 UTSW 5 145,286,135 (GRCm39) critical splice acceptor site probably null
R5872:Cyp3a57 UTSW 5 145,307,867 (GRCm39) nonsense probably null
R6855:Cyp3a57 UTSW 5 145,309,376 (GRCm39) missense probably damaging 0.97
R6861:Cyp3a57 UTSW 5 145,307,773 (GRCm39) missense possibly damaging 0.85
R6893:Cyp3a57 UTSW 5 145,323,784 (GRCm39) nonsense probably null
R7081:Cyp3a57 UTSW 5 145,318,183 (GRCm39) missense probably damaging 1.00
R7305:Cyp3a57 UTSW 5 145,307,795 (GRCm39) missense probably benign 0.03
R8987:Cyp3a57 UTSW 5 145,311,040 (GRCm39) critical splice acceptor site probably null
R8987:Cyp3a57 UTSW 5 145,311,039 (GRCm39) critical splice acceptor site probably null
R9317:Cyp3a57 UTSW 5 145,309,421 (GRCm39) missense possibly damaging 0.78
R9368:Cyp3a57 UTSW 5 145,318,159 (GRCm39) missense probably benign 0.01
R9505:Cyp3a57 UTSW 5 145,286,139 (GRCm39) missense probably benign 0.40
Z1177:Cyp3a57 UTSW 5 145,302,443 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACCCTAGGAATACGACATCTGC -3'
(R):5'- ATAGGGAGCTGGGCATTTCC -3'

Sequencing Primer
(F):5'- CTAGGAATACGACATCTGCATACTG -3'
(R):5'- CATTTCCTTATGGTGAGGAGGAAAG -3'
Posted On 2016-04-27