Incidental Mutation 'IGL02941:Cyp4f16'
ID 364489
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 # IGL02941
Quality Score
Status
Chromosome 17
Chromosomal Location 32536558-32551798 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 32537087 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 30 (I30T)
Ref Sequence ENSEMBL: ENSMUSP00000128349 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000003416] [ENSMUST00000165515] [ENSMUST00000169252] [ENSMUST00000169591]
AlphaFold Q99N17
Predicted Effect probably benign
Transcript: ENSMUST00000003416
AA Change: I30T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000003416
Gene: ENSMUSG00000048440
AA Change: I30T

DomainStartEndE-ValueType
Pfam:p450 52 515 4.7e-133 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000164628
Predicted Effect probably benign
Transcript: ENSMUST00000165515
AA Change: I30T

PolyPhen 2 Score 0.375 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000126845
Gene: ENSMUSG00000048440
AA Change: I30T

DomainStartEndE-ValueType
transmembrane domain 15 37 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000169252
AA Change: I30T

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000128349
Gene: ENSMUSG00000048440
AA Change: I30T

DomainStartEndE-ValueType
signal peptide 1 36 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169591
AA Change: I30T

PolyPhen 2 Score 0.250 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000131058
Gene: ENSMUSG00000048440
AA Change: I30T

DomainStartEndE-ValueType
Pfam:p450 52 515 4.7e-133 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000170956
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933405O20Rik G A 7: 50,599,536 R106Q probably damaging Het
Amhr2 T C 15: 102,447,289 V223A probably damaging Het
Aqr T A 2: 114,113,354 H1101L probably damaging Het
Arnt T A 3: 95,460,370 probably benign Het
Cacnb2 G A 2: 14,958,829 V85I probably benign Het
Cast A T 13: 74,700,687 D727E probably damaging Het
Ccdc134 C T 15: 82,140,950 R217W probably damaging Het
Col5a3 A G 9: 20,804,666 S360P unknown Het
Dopey2 T C 16: 93,755,473 F267L probably benign Het
Fbxo3 A G 2: 104,050,294 T250A probably damaging Het
Gm4953 C T 1: 159,168,393 noncoding transcript Het
Gm9242 T C 16: 97,491,079 probably benign Het
Gsr G A 8: 33,689,425 V354I probably damaging Het
Hecw1 T A 13: 14,377,726 D96V probably damaging Het
Hist2h2be A G 3: 96,221,416 Y84C possibly damaging Het
Il18r1 A G 1: 40,498,551 Y492C probably damaging Het
Itgb5 T G 16: 33,944,095 probably benign Het
Lars2 T G 9: 123,459,585 L832R probably damaging Het
Ms4a6c A G 19: 11,471,102 probably benign Het
Nrxn1 T C 17: 90,208,383 S1227G probably damaging Het
Olfr15 T C 16: 3,839,816 V281A possibly damaging Het
Olfr339 T C 2: 36,422,120 C241R probably damaging Het
Olfr584 A G 7: 103,086,321 T263A probably benign Het
Pcdh17 A G 14: 84,448,307 Y738C probably damaging Het
Pcsk5 C A 19: 17,447,501 C1646F probably damaging Het
Pirb A G 7: 3,717,378 V332A probably damaging Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Polrmt A T 10: 79,737,258 probably benign Het
Saxo1 G T 4: 86,445,584 R221S probably damaging Het
Specc1l A G 10: 75,241,188 I93V probably benign Het
St8sia2 T A 7: 73,976,649 probably benign Het
Tep1 A T 14: 50,866,037 N265K probably damaging Het
Thbd A T 2: 148,407,034 Y305N probably damaging Het
Tmem120a T C 5: 135,735,751 T325A probably damaging Het
Tmem2 G A 19: 21,823,843 D775N possibly damaging Het
Vill G A 9: 119,066,887 probably benign Het
Wdr35 A G 12: 9,027,507 D1060G probably damaging Het
Xrn2 T A 2: 147,026,524 F166I probably damaging Het
Zc3h7a T G 16: 11,158,594 probably null Het
Zdhhc13 G A 7: 48,817,138 probably benign Het
Zfp808 T A 13: 62,173,130 N724K possibly damaging Het
Other mutations in Cyp4f16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03400:Cyp4f16 APN 17 32550353 missense probably benign 0.00
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 2015-12-18