Incidental Mutation 'IGL03400:Cyp4f16'
ID 421384
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f16
Ensembl Gene ENSMUSG00000048440
Gene Name cytochrome P450, family 4, subfamily f, polypeptide 16
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock # IGL03400
Quality Score
Status
Chromosome 17
Chromosomal Location 32536558-32551798 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32550353 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 406 (I406V)
Ref Sequence ENSEMBL: ENSMUSP00000131058 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003416] [ENSMUST00000165515] [ENSMUST00000169252] [ENSMUST00000169591]
AlphaFold Q99N17
Predicted Effect probably benign
Transcript: ENSMUST00000003416
AA Change: I406V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: I406V

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 benign
Transcript: ENSMUST00000169591
AA Change: I406V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: I406V

DomainStartEndE-ValueType
Pfam:p450 52 515 4.7e-133 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Bmp3 T C 5: 98,872,098 S127P probably damaging Het
Ccdc84 A G 9: 44,413,189 V185A probably benign Het
Cemip A G 7: 83,958,516 S761P probably damaging Het
Ces3b A G 8: 105,092,936 T495A probably damaging Het
Cops3 A T 11: 59,818,088 D413E probably benign Het
Efcab6 A T 15: 83,867,045 probably benign Het
Emsy A G 7: 98,602,726 V703A possibly damaging Het
Fancb T C X: 164,995,591 S587P possibly damaging Het
Farp1 A G 14: 121,207,321 Y80C probably damaging Het
Fgf10 T C 13: 118,781,615 probably null Het
Fgf13 A G X: 59,125,888 probably benign Het
Filip1 T C 9: 79,820,473 K288R probably benign Het
L3mbtl3 T C 10: 26,315,526 N458S unknown Het
Nek11 C T 9: 105,204,866 A513T probably benign Het
Olfr1018 T C 2: 85,823,750 Y260H probably damaging Het
Olfr1320 T A X: 49,683,904 L134Q probably damaging Het
Olfr512 A C 7: 108,713,526 I46L probably benign Het
Palld G T 8: 61,513,455 A630E probably damaging Het
Pdk1 T C 2: 71,895,747 M333T probably benign Het
Rab9 T C X: 166,457,748 N189S probably benign Het
Shtn1 C T 19: 59,032,258 probably benign Het
Sntg1 T C 1: 8,463,414 I339V probably damaging Het
Spns3 A G 11: 72,499,675 V418A possibly damaging Het
St14 T A 9: 31,096,971 probably benign Het
Tedc2 T C 17: 24,219,803 D180G probably benign Het
Trim33 T C 3: 103,329,143 I523T probably damaging Het
Ttn T A 2: 76,720,864 M23068L probably benign Het
Ttn T C 2: 76,748,922 M15549V probably damaging Het
Tubgcp6 A G 15: 89,108,099 probably benign Het
Ube3c A G 5: 29,601,347 Y329C probably benign Het
Zmym4 G T 4: 126,923,127 D259E probably benign Het
Other mutations in Cyp4f16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02941:Cyp4f16 APN 17 32537087 missense possibly damaging 0.75
R0437:Cyp4f16 UTSW 17 32537098 missense possibly damaging 0.46
R0454:Cyp4f16 UTSW 17 32537087 missense probably damaging 0.97
R0482:Cyp4f16 UTSW 17 32550551 missense probably damaging 1.00
R1422:Cyp4f16 UTSW 17 32542999 missense probably damaging 0.99
R1435:Cyp4f16 UTSW 17 32550734 nonsense probably null
R1440:Cyp4f16 UTSW 17 32550734 nonsense probably null
R1616:Cyp4f16 UTSW 17 32542968 nonsense probably null
R1840:Cyp4f16 UTSW 17 32543006 critical splice donor site probably null
R1854:Cyp4f16 UTSW 17 32537099 missense probably damaging 0.99
R1912:Cyp4f16 UTSW 17 32545044 missense probably damaging 0.99
R2200:Cyp4f16 UTSW 17 32537104 missense probably damaging 0.98
R3803:Cyp4f16 UTSW 17 32544884 missense possibly damaging 0.96
R4811:Cyp4f16 UTSW 17 32545106 missense probably benign
R4812:Cyp4f16 UTSW 17 32546678 missense probably null 1.00
R4837:Cyp4f16 UTSW 17 32542764 missense possibly damaging 0.59
R4867:Cyp4f16 UTSW 17 32550750 missense possibly damaging 0.94
R4909:Cyp4f16 UTSW 17 32550321 missense possibly damaging 0.46
R5857:Cyp4f16 UTSW 17 32537024 missense probably damaging 1.00
R5986:Cyp4f16 UTSW 17 32544142 missense probably benign 0.45
R6013:Cyp4f16 UTSW 17 32546678 missense probably null 1.00
R6408:Cyp4f16 UTSW 17 32551199 missense probably damaging 1.00
R6651:Cyp4f16 UTSW 17 32544144 missense probably benign 0.00
R7463:Cyp4f16 UTSW 17 32550787 missense possibly damaging 0.89
R7923:Cyp4f16 UTSW 17 32546747 missense possibly damaging 0.67
RF005:Cyp4f16 UTSW 17 32545195 splice site probably null
X0017:Cyp4f16 UTSW 17 32544936 missense probably damaging 1.00
Posted On 2016-08-02