Incidental Mutation 'R1580:Cyp3a16'
ID 171343
Institutional Source Beutler Lab
Gene Symbol Cyp3a16
Ensembl Gene ENSMUSG00000038656
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 16
Synonyms
MMRRC Submission 039617-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.189) question?
Stock # R1580 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 145373119-145406533 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 145378884 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Isoleucine at position 379 (K379I)
Ref Sequence ENSEMBL: ENSMUSP00000031633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031633]
AlphaFold Q64481
Predicted Effect possibly damaging
Transcript: ENSMUST00000031633
AA Change: K379I

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000031633
Gene: ENSMUSG00000038656
AA Change: K379I

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:p450 38 494 5.5e-132 PFAM
Meta Mutation Damage Score 0.3279 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.4%
  • 20x: 89.8%
Validation Efficiency 96% (43/45)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,305,124 (GRCm39) V2044I possibly damaging Het
Adgrv1 A G 13: 81,614,279 (GRCm39) probably null Het
Arhgef38 T C 3: 132,839,465 (GRCm39) Q526R probably benign Het
Atp2c2 A G 8: 120,479,726 (GRCm39) N752D probably benign Het
Atp6v0a1 T C 11: 100,920,030 (GRCm39) I221T probably damaging Het
Atp8b5 T C 4: 43,355,673 (GRCm39) V551A possibly damaging Het
B3galnt1 A G 3: 69,483,040 (GRCm39) S74P possibly damaging Het
Bcl2l13 A G 6: 120,842,675 (GRCm39) I123V probably benign Het
Brms1l A T 12: 55,915,007 (GRCm39) K305N probably damaging Het
Ccdc82 C T 9: 13,252,385 (GRCm39) R226C probably damaging Het
Chst9 T G 18: 15,586,122 (GRCm39) K147T probably benign Het
Clec16a A G 16: 10,413,762 (GRCm39) R390G probably damaging Het
Clec5a G T 6: 40,562,153 (GRCm39) H4N probably benign Het
Csmd1 T A 8: 15,975,299 (GRCm39) Q2970L probably damaging Het
Cyp2a4 T C 7: 26,007,076 (GRCm39) I61T possibly damaging Het
Dok2 A G 14: 71,014,397 (GRCm39) D195G probably benign Het
Emilin1 A G 5: 31,074,764 (GRCm39) E335G probably damaging Het
Gm7361 G T 5: 26,462,768 (GRCm39) L3F probably damaging Het
Haus1 T C 18: 77,854,620 (GRCm39) D50G probably damaging Het
Igf1r T C 7: 67,857,617 (GRCm39) V1099A probably benign Het
Kif15 T C 9: 122,789,021 (GRCm39) V71A probably benign Het
Klk10 C T 7: 43,432,286 (GRCm39) A73V probably damaging Het
Lins1 C A 7: 66,364,239 (GRCm39) D711E probably benign Het
Mbtps1 C T 8: 120,265,639 (GRCm39) V303I possibly damaging Het
Mest G A 6: 30,745,822 (GRCm39) probably benign Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Or14c43 A G 7: 86,114,658 (GRCm39) E13G probably benign Het
Or6c210 G T 10: 129,496,184 (GRCm39) V170F probably benign Het
Rfwd3 C T 8: 112,014,874 (GRCm39) R326Q probably damaging Het
Rtf2 A G 2: 172,287,285 (GRCm39) D68G probably damaging Het
Sbspon C A 1: 15,962,692 (GRCm39) C62F probably damaging Het
Spata31f3 T C 4: 42,874,020 (GRCm39) probably null Het
Spg7 T A 8: 123,816,977 (GRCm39) probably benign Het
Trabd2b T C 4: 114,437,531 (GRCm39) V236A possibly damaging Het
Vmn2r10 A T 5: 109,154,117 (GRCm39) N62K possibly damaging Het
Vmn2r45 T G 7: 8,474,746 (GRCm39) S761R possibly damaging Het
Zfp580 C T 7: 5,056,284 (GRCm39) R215C probably damaging Het
Zfpm2 A G 15: 40,966,605 (GRCm39) D898G possibly damaging Het
Other mutations in Cyp3a16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01386:Cyp3a16 APN 5 145,377,244 (GRCm39) missense probably damaging 0.98
IGL01964:Cyp3a16 APN 5 145,392,372 (GRCm39) missense probably benign 0.41
IGL02007:Cyp3a16 APN 5 145,378,758 (GRCm39) splice site probably benign
IGL02139:Cyp3a16 APN 5 145,392,290 (GRCm39) missense probably benign 0.10
IGL02177:Cyp3a16 APN 5 145,386,964 (GRCm39) missense probably benign 0.43
IGL02407:Cyp3a16 APN 5 145,388,652 (GRCm39) missense probably damaging 0.99
IGL02473:Cyp3a16 APN 5 145,377,304 (GRCm39) missense possibly damaging 0.54
polywog UTSW 5 145,404,280 (GRCm39) nonsense probably null
R0363:Cyp3a16 UTSW 5 145,392,689 (GRCm39) splice site probably benign
R0556:Cyp3a16 UTSW 5 145,392,790 (GRCm39) missense probably benign 0.37
R0557:Cyp3a16 UTSW 5 145,406,398 (GRCm39) missense unknown
R0636:Cyp3a16 UTSW 5 145,399,895 (GRCm39) missense probably benign 0.03
R0749:Cyp3a16 UTSW 5 145,392,987 (GRCm39) critical splice acceptor site probably null
R0788:Cyp3a16 UTSW 5 145,401,886 (GRCm39) missense probably benign 0.00
R1552:Cyp3a16 UTSW 5 145,373,346 (GRCm39) missense probably benign 0.01
R1575:Cyp3a16 UTSW 5 145,373,267 (GRCm39) missense probably benign 0.01
R1580:Cyp3a16 UTSW 5 145,378,885 (GRCm39) missense probably damaging 1.00
R1642:Cyp3a16 UTSW 5 145,406,399 (GRCm39) missense unknown
R1763:Cyp3a16 UTSW 5 145,401,841 (GRCm39) critical splice donor site probably null
R2029:Cyp3a16 UTSW 5 145,388,667 (GRCm39) missense probably damaging 0.96
R2144:Cyp3a16 UTSW 5 145,392,894 (GRCm39) missense probably damaging 1.00
R2409:Cyp3a16 UTSW 5 145,377,177 (GRCm39) missense probably benign 0.01
R2473:Cyp3a16 UTSW 5 145,392,404 (GRCm39) missense possibly damaging 0.79
R2860:Cyp3a16 UTSW 5 145,392,309 (GRCm39) nonsense probably null
R2861:Cyp3a16 UTSW 5 145,392,309 (GRCm39) nonsense probably null
R3747:Cyp3a16 UTSW 5 145,378,881 (GRCm39) missense probably damaging 1.00
R4654:Cyp3a16 UTSW 5 145,373,267 (GRCm39) missense probably benign 0.01
R4781:Cyp3a16 UTSW 5 145,392,922 (GRCm39) missense possibly damaging 0.85
R4873:Cyp3a16 UTSW 5 145,389,659 (GRCm39) missense probably benign 0.01
R4875:Cyp3a16 UTSW 5 145,389,659 (GRCm39) missense probably benign 0.01
R4925:Cyp3a16 UTSW 5 145,389,644 (GRCm39) missense probably benign 0.00
R5365:Cyp3a16 UTSW 5 145,389,597 (GRCm39) missense probably damaging 1.00
R5496:Cyp3a16 UTSW 5 145,404,341 (GRCm39) missense probably damaging 1.00
R5640:Cyp3a16 UTSW 5 145,389,633 (GRCm39) missense possibly damaging 0.94
R5761:Cyp3a16 UTSW 5 145,378,843 (GRCm39) missense possibly damaging 0.79
R6401:Cyp3a16 UTSW 5 145,377,174 (GRCm39) missense probably damaging 1.00
R6526:Cyp3a16 UTSW 5 145,392,705 (GRCm39) missense probably benign 0.01
R6528:Cyp3a16 UTSW 5 145,377,241 (GRCm39) missense probably damaging 1.00
R7000:Cyp3a16 UTSW 5 145,399,980 (GRCm39) critical splice acceptor site probably null
R7268:Cyp3a16 UTSW 5 145,404,280 (GRCm39) nonsense probably null
R7630:Cyp3a16 UTSW 5 145,373,120 (GRCm39) splice site probably null
R7938:Cyp3a16 UTSW 5 145,389,666 (GRCm39) missense probably benign 0.00
R8827:Cyp3a16 UTSW 5 145,387,008 (GRCm39) missense probably benign 0.38
R9040:Cyp3a16 UTSW 5 145,392,922 (GRCm39) missense possibly damaging 0.85
R9137:Cyp3a16 UTSW 5 145,406,413 (GRCm39) missense unknown
R9139:Cyp3a16 UTSW 5 145,406,434 (GRCm39) missense unknown
R9140:Cyp3a16 UTSW 5 145,406,434 (GRCm39) missense unknown
R9284:Cyp3a16 UTSW 5 145,377,304 (GRCm39) missense probably damaging 1.00
R9657:Cyp3a16 UTSW 5 145,386,979 (GRCm39) missense probably null 1.00
R9680:Cyp3a16 UTSW 5 145,389,690 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GCCATTCTCCTCACACAATGCAAATGT -3'
(R):5'- GGATGCTGAGAACTCAACACTAGACAC -3'

Sequencing Primer
(F):5'- TGAGAGACATCATAGTATCCACAG -3'
(R):5'- ACCGTGATGGCGATGGAATA -3'
Posted On 2014-04-13