Incidental Mutation 'R8728:Cyp3a59'
ID 662568
Institutional Source Beutler Lab
Gene Symbol Cyp3a59
Ensembl Gene ENSMUSG00000061292
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 59
Synonyms
MMRRC Submission 068576-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8728 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 146016067-146050097 bp(+) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 146035122 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000049494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035571] [ENSMUST00000199212]
AlphaFold D3Z2W7
Predicted Effect probably null
Transcript: ENSMUST00000035571
SMART Domains Protein: ENSMUSP00000049494
Gene: ENSMUSG00000061292

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (67/67)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam2 A G 14: 66,295,086 (GRCm39) L253P probably damaging Het
Adamts20 C T 15: 94,229,281 (GRCm39) G946D probably benign Het
Afdn A G 17: 14,119,207 (GRCm39) R1648G probably damaging Het
Ak9 G A 10: 41,282,959 (GRCm39) A1242T Het
Anxa9 T C 3: 95,209,979 (GRCm39) K127E probably damaging Het
Atp6v0a2 T C 5: 124,796,152 (GRCm39) S739P probably benign Het
Bloc1s6 A T 2: 122,588,026 (GRCm39) M122L possibly damaging Het
Bltp3b A T 10: 89,618,582 (GRCm39) M274L probably benign Het
Bms1 A G 6: 118,369,331 (GRCm39) I990T possibly damaging Het
Ccdc9b T C 2: 118,587,793 (GRCm39) T514A probably benign Het
Cdk14 G A 5: 5,470,117 (GRCm39) silent Het
Celsr3 T C 9: 108,723,940 (GRCm39) L2899S probably benign Het
Ces1b A T 8: 93,798,576 (GRCm39) D203E probably benign Het
Cnnm1 A G 19: 43,473,365 (GRCm39) N753S probably benign Het
Col19a1 C T 1: 24,365,113 (GRCm39) G501R probably damaging Het
Cym A G 3: 107,125,991 (GRCm39) F91L possibly damaging Het
Cyp2c67 T G 19: 39,614,605 (GRCm39) R307S probably damaging Het
Cyp4a31 G A 4: 115,422,225 (GRCm39) E70K probably benign Het
Dagla G A 19: 10,225,771 (GRCm39) R798C probably damaging Het
Dcaf1 C T 9: 106,724,005 (GRCm39) R478C possibly damaging Het
Dcbld1 T C 10: 52,109,929 (GRCm39) L28P probably benign Het
Ddr2 T C 1: 169,829,552 (GRCm39) D234G possibly damaging Het
Fam83a T A 15: 57,873,062 (GRCm39) M297K possibly damaging Het
Galnt18 T A 7: 111,119,243 (GRCm39) D426V probably damaging Het
Gm29735 ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA 7: 141,710,266 (GRCm39) probably benign Het
Gm43302 T C 5: 105,438,793 (GRCm39) I32V probably benign Het
Gm9944 T C 4: 144,179,601 (GRCm39) Y96C unknown Het
Hdac1-ps A G 17: 78,800,332 (GRCm39) K441R probably benign Het
Impdh2 C T 9: 108,437,562 (GRCm39) probably benign Het
Iws1 G A 18: 32,216,334 (GRCm39) R358Q probably damaging Het
Kctd18 G T 1: 58,002,289 (GRCm39) D179E probably damaging Het
Krt13 T G 11: 100,012,318 (GRCm39) S2R probably null Het
Krt78 A T 15: 101,856,225 (GRCm39) S529T probably benign Het
Krtap4-7 C G 11: 99,534,788 (GRCm39) C25S unknown Het
Lama1 T C 17: 68,125,663 (GRCm39) I2940T Het
Lmnb2 A G 10: 80,740,913 (GRCm39) probably null Het
Lrrc27 A T 7: 138,822,555 (GRCm39) E482V probably damaging Het
Lrrc72 G A 12: 36,258,656 (GRCm39) T67M probably benign Het
Malrd1 T A 2: 15,701,753 (GRCm39) C789* probably null Het
Mei1 T G 15: 81,966,182 (GRCm39) V268G Het
Mical3 C A 6: 120,950,514 (GRCm39) A966S probably damaging Het
Mmp10 C T 9: 7,502,480 (GRCm39) P29L probably benign Het
Mroh2b T C 15: 4,935,122 (GRCm39) F186L probably damaging Het
Muc4 A T 16: 32,754,952 (GRCm38) T1609S unknown Het
Myrfl A T 10: 116,634,545 (GRCm39) C616* probably null Het
Ncor1 C T 11: 62,221,685 (GRCm39) A946T probably benign Het
Or10al6 C A 17: 38,082,642 (GRCm39) L33M probably damaging Het
Or2t48 T C 11: 58,420,027 (GRCm39) T262A probably benign Het
Pbp2 T C 6: 135,287,104 (GRCm39) Y81C probably benign Het
Plekhh1 C A 12: 79,115,862 (GRCm39) Q802K possibly damaging Het
Pnldc1 A T 17: 13,116,165 (GRCm39) F279Y probably damaging Het
Psmb5 A T 14: 54,855,261 (GRCm39) L63Q probably damaging Het
Rasa3 C T 8: 13,636,873 (GRCm39) probably null Het
Rbm4b G A 19: 4,812,219 (GRCm39) M209I probably benign Het
Rnf38 A G 4: 44,131,615 (GRCm39) S421P probably benign Het
Sema5a T C 15: 32,562,703 (GRCm39) V238A probably damaging Het
Sesn1 G T 10: 41,779,771 (GRCm39) G402W probably damaging Het
Six4 A G 12: 73,159,180 (GRCm39) V260A probably benign Het
Srrm2 G A 17: 24,038,831 (GRCm39) R1825Q unknown Het
Stat1 G A 1: 52,178,353 (GRCm39) W262* probably null Het
Tcf20 A T 15: 82,739,158 (GRCm39) D764E probably damaging Het
Tgm2 T C 2: 157,962,065 (GRCm39) N585D probably benign Het
Tmf1 A T 6: 97,133,821 (GRCm39) L1039H probably damaging Het
Trak2 A G 1: 58,974,934 (GRCm39) V86A probably benign Het
Ttc39b A G 4: 83,171,247 (GRCm39) I202T probably damaging Het
Vmn1r30 A G 6: 58,412,460 (GRCm39) F124S probably benign Het
Vwa7 T A 17: 35,236,133 (GRCm39) F29Y probably damaging Het
Wdr64 A T 1: 175,559,079 (GRCm39) M281L probably benign Het
Zfand2a C T 5: 139,467,753 (GRCm39) V40M possibly damaging Het
Zfp865 G C 7: 5,034,819 (GRCm39) A935P probably damaging Het
Other mutations in Cyp3a59
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01120:Cyp3a59 APN 5 146,039,671 (GRCm39) missense probably damaging 0.99
IGL01129:Cyp3a59 APN 5 146,035,089 (GRCm39) missense probably benign 0.06
IGL01628:Cyp3a59 APN 5 146,036,629 (GRCm39) missense possibly damaging 0.94
IGL01982:Cyp3a59 APN 5 146,041,545 (GRCm39) missense probably benign 0.00
IGL02094:Cyp3a59 APN 5 146,041,631 (GRCm39) missense probably benign 0.05
IGL02140:Cyp3a59 APN 5 146,039,690 (GRCm39) missense probably damaging 1.00
IGL02350:Cyp3a59 APN 5 146,016,152 (GRCm39) missense probably damaging 1.00
IGL02357:Cyp3a59 APN 5 146,016,152 (GRCm39) missense probably damaging 1.00
IGL02445:Cyp3a59 APN 5 146,033,463 (GRCm39) missense probably benign 0.00
IGL02681:Cyp3a59 APN 5 146,027,556 (GRCm39) splice site probably benign
IGL02870:Cyp3a59 APN 5 146,034,994 (GRCm39) missense probably benign
IGL03023:Cyp3a59 APN 5 146,022,660 (GRCm39) missense probably benign 0.02
PIT4802001:Cyp3a59 UTSW 5 146,039,611 (GRCm39) missense probably benign 0.00
R0220:Cyp3a59 UTSW 5 146,035,080 (GRCm39) missense probably benign 0.02
R0532:Cyp3a59 UTSW 5 146,033,463 (GRCm39) nonsense probably null
R1084:Cyp3a59 UTSW 5 146,033,484 (GRCm39) missense probably benign
R1263:Cyp3a59 UTSW 5 146,041,521 (GRCm39) missense probably damaging 1.00
R1573:Cyp3a59 UTSW 5 146,039,684 (GRCm39) missense probably damaging 1.00
R1747:Cyp3a59 UTSW 5 146,041,568 (GRCm39) missense probably benign
R1759:Cyp3a59 UTSW 5 146,035,060 (GRCm39) missense probably benign 0.10
R1812:Cyp3a59 UTSW 5 146,039,621 (GRCm39) missense probably damaging 1.00
R1937:Cyp3a59 UTSW 5 146,031,187 (GRCm39) missense possibly damaging 0.80
R2026:Cyp3a59 UTSW 5 146,033,098 (GRCm39) missense probably damaging 1.00
R2060:Cyp3a59 UTSW 5 146,041,524 (GRCm39) missense probably damaging 1.00
R2355:Cyp3a59 UTSW 5 146,036,622 (GRCm39) missense probably benign 0.09
R3721:Cyp3a59 UTSW 5 146,033,407 (GRCm39) missense probably damaging 0.96
R4013:Cyp3a59 UTSW 5 146,016,193 (GRCm39) missense probably benign 0.01
R4421:Cyp3a59 UTSW 5 146,041,713 (GRCm39) splice site probably null
R4432:Cyp3a59 UTSW 5 146,041,596 (GRCm39) missense probably benign 0.04
R4633:Cyp3a59 UTSW 5 146,031,248 (GRCm39) missense probably damaging 1.00
R4843:Cyp3a59 UTSW 5 146,033,071 (GRCm39) missense possibly damaging 0.61
R4886:Cyp3a59 UTSW 5 146,024,197 (GRCm39) missense probably damaging 1.00
R5236:Cyp3a59 UTSW 5 146,039,635 (GRCm39) missense probably benign 0.20
R5386:Cyp3a59 UTSW 5 146,022,578 (GRCm39) missense probably benign 0.01
R5627:Cyp3a59 UTSW 5 146,049,664 (GRCm39) missense probably benign 0.00
R5792:Cyp3a59 UTSW 5 146,036,661 (GRCm39) missense possibly damaging 0.92
R5935:Cyp3a59 UTSW 5 146,027,455 (GRCm39) nonsense probably null
R6531:Cyp3a59 UTSW 5 146,035,027 (GRCm39) missense probably benign 0.00
R6790:Cyp3a59 UTSW 5 146,033,143 (GRCm39) missense probably benign
R7108:Cyp3a59 UTSW 5 146,033,143 (GRCm39) missense probably benign
R7222:Cyp3a59 UTSW 5 146,033,385 (GRCm39) critical splice acceptor site probably null
R7447:Cyp3a59 UTSW 5 146,024,215 (GRCm39) missense probably benign 0.25
R7457:Cyp3a59 UTSW 5 146,041,560 (GRCm39) missense probably damaging 1.00
R7723:Cyp3a59 UTSW 5 146,016,154 (GRCm39) missense probably benign 0.06
R8171:Cyp3a59 UTSW 5 146,022,584 (GRCm39) missense probably damaging 1.00
R8417:Cyp3a59 UTSW 5 146,027,495 (GRCm39) missense possibly damaging 0.49
R8474:Cyp3a59 UTSW 5 146,041,487 (GRCm39) missense probably benign 0.01
R8716:Cyp3a59 UTSW 5 146,033,411 (GRCm39) missense probably damaging 0.99
R8839:Cyp3a59 UTSW 5 146,045,896 (GRCm39) missense probably benign
R8969:Cyp3a59 UTSW 5 146,049,630 (GRCm39) missense probably benign 0.15
R9478:Cyp3a59 UTSW 5 146,034,997 (GRCm39) missense probably damaging 0.98
R9697:Cyp3a59 UTSW 5 146,031,190 (GRCm39) missense probably damaging 0.99
R9705:Cyp3a59 UTSW 5 146,033,120 (GRCm39) missense probably benign 0.00
Z1088:Cyp3a59 UTSW 5 146,035,032 (GRCm39) missense probably benign 0.33
Predicted Primers PCR Primer
(F):5'- AATCCACTGTCACTCATTTTCTGCA -3'
(R):5'- AAGATCAAACCCTGAGTATCTTGAT -3'

Sequencing Primer
(F):5'- ACTGTCACTCATTTTCTGCATTTAC -3'
(R):5'- TGATCAGACCCTGAGTGTCATGAC -3'
Posted On 2021-03-08