Incidental Mutation 'R6408:Cyp4f16'
ID 514560
Institutional Source Beutler Lab
Gene Symbol Cyp4f16
Ensembl Gene ENSMUSG00000048440
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 16
Synonyms 2310021J05Rik
MMRRC Submission 044553-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6408 (G1)
Quality Score 225.009
Status Validated
Chromosome 17
Chromosomal Location 32755532-32770772 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32770173 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 514 (L514Q)
Ref Sequence ENSEMBL: ENSMUSP00000131058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003416] [ENSMUST00000165515] [ENSMUST00000169252] [ENSMUST00000169591]
AlphaFold Q99N17
Predicted Effect probably damaging
Transcript: ENSMUST00000003416
AA Change: L514Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: L514Q

DomainStartEndE-ValueType
Pfam:p450 52 515 4.7e-133 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000165515
SMART Domains Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168285
Predicted Effect noncoding transcript
Transcript: ENSMUST00000168346
Predicted Effect probably benign
Transcript: ENSMUST00000169252
SMART Domains Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000169591
AA Change: L514Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: L514Q

DomainStartEndE-ValueType
Pfam:p450 52 515 4.7e-133 PFAM
Meta Mutation Damage Score 0.7492 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.2%
Validation Efficiency 94% (45/48)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik T C 5: 107,691,858 (GRCm39) S50P probably damaging Het
4930407I10Rik T C 15: 81,949,307 (GRCm39) V1068A possibly damaging Het
Acss1 A G 2: 150,470,412 (GRCm39) probably null Het
Amer2 T C 14: 60,617,674 (GRCm39) I497T probably damaging Het
Azi2 A T 9: 117,890,550 (GRCm39) R51* probably null Het
Brdt A G 5: 107,533,358 (GRCm39) D946G probably damaging Het
Bzw2 C T 12: 36,157,524 (GRCm39) V314I possibly damaging Het
Capn13 A T 17: 73,672,954 (GRCm39) Y116* probably null Het
Clca4b A G 3: 144,625,036 (GRCm39) I485T probably benign Het
Crybg3 T A 16: 59,316,053 (GRCm39) T1130S possibly damaging Het
Cubn C T 2: 13,299,014 (GRCm39) V3220M probably damaging Het
D7Ertd443e G T 7: 133,951,440 (GRCm39) Q31K probably benign Het
Dcaf15 T C 8: 84,831,355 (GRCm39) E8G probably benign Het
Ddx24 A C 12: 103,391,819 (GRCm39) probably benign Het
Diaph3 T C 14: 87,066,430 (GRCm39) M988V possibly damaging Het
Dlx4 A G 11: 95,036,078 (GRCm39) V77A probably benign Het
Dnah3 T C 7: 119,522,191 (GRCm39) probably null Het
Drc1 A G 5: 30,513,632 (GRCm39) E396G probably benign Het
Gab1 C A 8: 81,515,226 (GRCm39) R364L possibly damaging Het
Gbp2b T C 3: 142,323,899 (GRCm39) L568S probably benign Het
Gjb5 A T 4: 127,249,940 (GRCm39) F68Y probably benign Het
Hs6st3 C A 14: 119,376,046 (GRCm39) P74T probably benign Het
Kif26b T C 1: 178,745,133 (GRCm39) L1743P probably damaging Het
Lnx1 A T 5: 74,846,307 (GRCm39) C48S probably damaging Het
Lrfn2 A G 17: 49,377,654 (GRCm39) H245R probably damaging Het
Lrrc27 A G 7: 138,798,184 (GRCm39) E93G probably benign Het
Mettl6 T C 14: 31,201,683 (GRCm39) E253G probably damaging Het
Nmu A T 5: 76,491,818 (GRCm39) F106Y probably damaging Het
Pcsk7 T C 9: 45,820,994 (GRCm39) I142T probably benign Het
Polr3a A T 14: 24,536,939 (GRCm39) probably null Het
Psmb9 G T 17: 34,404,707 (GRCm39) A19E probably damaging Het
Pus7l A G 15: 94,429,456 (GRCm39) M454T probably benign Het
Raet1e A G 10: 22,056,645 (GRCm39) T74A probably benign Het
Ralb A C 1: 119,405,839 (GRCm39) Y43* probably null Het
Ralgapa1 C A 12: 55,730,695 (GRCm39) E1947* probably null Het
Rnf26rt A G 6: 76,473,441 (GRCm39) C392R probably damaging Het
Robo1 T C 16: 72,768,934 (GRCm39) Y500H probably benign Het
Shroom1 A C 11: 53,354,214 (GRCm39) T45P probably benign Het
Slit2 A G 5: 48,142,328 (GRCm39) probably benign Het
Spmip2 A G 3: 79,356,706 (GRCm39) R170G probably benign Het
Srgap3 T C 6: 112,699,967 (GRCm39) S1004G probably damaging Het
Taok2 A G 7: 126,470,164 (GRCm39) V888A probably benign Het
Tbc1d8 T A 1: 39,441,980 (GRCm39) D204V probably damaging Het
Thoc2l A G 5: 104,666,643 (GRCm39) I388M probably benign Het
Trav7d-4 C A 14: 53,007,624 (GRCm39) A39D probably damaging Het
Ush2a G T 1: 187,999,229 (GRCm39) E180* probably null Het
Vmn1r37 A G 6: 66,708,563 (GRCm39) D63G probably benign Het
Zfp282 G A 6: 47,857,319 (GRCm39) R184Q probably damaging Het
Other mutations in Cyp4f16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02941:Cyp4f16 APN 17 32,756,061 (GRCm39) missense possibly damaging 0.75
IGL03400:Cyp4f16 APN 17 32,769,327 (GRCm39) missense probably benign 0.00
R0437:Cyp4f16 UTSW 17 32,756,072 (GRCm39) missense possibly damaging 0.46
R0454:Cyp4f16 UTSW 17 32,756,061 (GRCm39) missense probably damaging 0.97
R0482:Cyp4f16 UTSW 17 32,769,525 (GRCm39) missense probably damaging 1.00
R1422:Cyp4f16 UTSW 17 32,761,973 (GRCm39) missense probably damaging 0.99
R1435:Cyp4f16 UTSW 17 32,769,708 (GRCm39) nonsense probably null
R1440:Cyp4f16 UTSW 17 32,769,708 (GRCm39) nonsense probably null
R1616:Cyp4f16 UTSW 17 32,761,942 (GRCm39) nonsense probably null
R1840:Cyp4f16 UTSW 17 32,761,980 (GRCm39) critical splice donor site probably null
R1854:Cyp4f16 UTSW 17 32,756,073 (GRCm39) missense probably damaging 0.99
R1912:Cyp4f16 UTSW 17 32,764,018 (GRCm39) missense probably damaging 0.99
R2200:Cyp4f16 UTSW 17 32,756,078 (GRCm39) missense probably damaging 0.98
R3803:Cyp4f16 UTSW 17 32,763,858 (GRCm39) missense possibly damaging 0.96
R4811:Cyp4f16 UTSW 17 32,764,080 (GRCm39) missense probably benign
R4812:Cyp4f16 UTSW 17 32,765,652 (GRCm39) missense probably null 1.00
R4837:Cyp4f16 UTSW 17 32,761,738 (GRCm39) missense possibly damaging 0.59
R4867:Cyp4f16 UTSW 17 32,769,724 (GRCm39) missense possibly damaging 0.94
R4909:Cyp4f16 UTSW 17 32,769,295 (GRCm39) missense possibly damaging 0.46
R5857:Cyp4f16 UTSW 17 32,755,998 (GRCm39) missense probably damaging 1.00
R5986:Cyp4f16 UTSW 17 32,763,116 (GRCm39) missense probably benign 0.45
R6013:Cyp4f16 UTSW 17 32,765,652 (GRCm39) missense probably null 1.00
R6651:Cyp4f16 UTSW 17 32,763,118 (GRCm39) missense probably benign 0.00
R7463:Cyp4f16 UTSW 17 32,769,761 (GRCm39) missense possibly damaging 0.89
R7923:Cyp4f16 UTSW 17 32,765,721 (GRCm39) missense possibly damaging 0.67
R9622:Cyp4f16 UTSW 17 32,769,246 (GRCm39) missense probably damaging 1.00
RF005:Cyp4f16 UTSW 17 32,764,169 (GRCm39) splice site probably null
X0017:Cyp4f16 UTSW 17 32,763,910 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTAGGCACTGCACAGAG -3'
(R):5'- ACTCTTCATCAGTCTGCAGGC -3'

Sequencing Primer
(F):5'- TGCACAGAGTCCCCATCCTG -3'
(R):5'- CAGAAAGGCCCTTGGACTCAG -3'
Posted On 2018-05-04