Incidental Mutation 'IGL01867:Cyp4f17'
ID178559
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4f17
Ensembl Gene ENSMUSG00000091586
Gene Namecytochrome P450, family 4, subfamily f, polypeptide 17
SynonymsEG208285
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01867
Quality Score
Status
Chromosome17
Chromosomal Location32506462-32528894 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32528083 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 429 (H429R)
Ref Sequence ENSEMBL: ENSMUSP00000129514 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000165999]
Predicted Effect probably benign
Transcript: ENSMUST00000165999
AA Change: H429R

PolyPhen 2 Score 0.299 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000129514
Gene: ENSMUSG00000091586
AA Change: H429R

DomainStartEndE-ValueType
signal peptide 1 16 N/A INTRINSIC
Pfam:p450 52 515 3.5e-135 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 T C 17: 46,324,438 E213G probably benign Het
Akap6 T C 12: 52,888,008 L761P probably damaging Het
Bbs7 A C 3: 36,573,547 L697R probably benign Het
Cd74 G A 18: 60,808,280 R99H probably benign Het
Cpne6 A G 14: 55,513,680 N182S probably benign Het
Dact2 A T 17: 14,195,670 M756K probably damaging Het
Ets1 A G 9: 32,734,159 D234G probably damaging Het
Fam196b A G 11: 34,403,065 E369G probably benign Het
Fat3 A C 9: 16,377,901 S109A probably benign Het
Fras1 G T 5: 96,588,131 M528I probably benign Het
Gm10718 A T 9: 3,025,118 Y194F probably benign Het
Gtf3c1 A G 7: 125,662,376 F1189L probably benign Het
Ift81 A T 5: 122,602,676 probably benign Het
Lag3 A G 6: 124,910,906 S22P probably benign Het
Mos G T 4: 3,870,845 Q324K probably benign Het
Mtx2 T A 2: 74,876,389 V236E probably damaging Het
Naip6 T C 13: 100,300,312 T568A probably benign Het
Olfr175-ps1 A G 16: 58,823,974 F245S probably damaging Het
Olfr780 T C 10: 129,321,716 I31T probably benign Het
Olfr781 T A 10: 129,333,363 L161M probably damaging Het
Olfr794 G A 10: 129,570,827 M57I possibly damaging Het
Olfr920 A C 9: 38,755,898 D70A probably damaging Het
Pcid2 A G 8: 13,078,243 V386A probably benign Het
Pde8b T C 13: 95,100,938 D116G probably damaging Het
Plxnc1 A G 10: 94,798,146 V1365A possibly damaging Het
Prex2 G T 1: 11,098,503 C241F probably benign Het
Prr23a2 A G 9: 98,857,060 E157G probably benign Het
Ptpn4 A T 1: 119,675,599 H836Q probably benign Het
Ptprd C T 4: 76,243,647 R117H probably damaging Het
Rab11fip4 T C 11: 79,683,390 S102P probably benign Het
Slc44a1 G T 4: 53,536,405 V194F probably damaging Het
Synm T A 7: 67,733,474 H1480L probably benign Het
Tmem63a A G 1: 180,956,005 Y175C possibly damaging Het
Trmt61a C T 12: 111,678,716 R29C probably benign Het
Ubap1 C T 4: 41,379,236 T150I probably benign Het
Uimc1 T C 13: 55,075,401 M353V probably benign Het
Usp34 T C 11: 23,384,411 M1135T possibly damaging Het
Vmn1r25 A C 6: 57,979,211 L31R probably damaging Het
Wtap T C 17: 12,969,455 E186G probably benign Het
Wwc2 T G 8: 47,883,580 N216H probably benign Het
Zhx1 A T 15: 58,054,445 M135K probably damaging Het
Other mutations in Cyp4f17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00580:Cyp4f17 APN 17 32524875 nonsense probably null
IGL01767:Cyp4f17 APN 17 32506982 missense probably benign
IGL02009:Cyp4f17 APN 17 32524880 missense probably damaging 1.00
IGL02423:Cyp4f17 APN 17 32506949 missense possibly damaging 0.93
IGL02503:Cyp4f17 APN 17 32524966 critical splice donor site probably null
IGL02571:Cyp4f17 APN 17 32524904 missense probably benign 0.42
IGL03328:Cyp4f17 APN 17 32520626 missense probably damaging 1.00
IGL03047:Cyp4f17 UTSW 17 32524049 missense possibly damaging 0.88
PIT4810001:Cyp4f17 UTSW 17 32524600 missense possibly damaging 0.56
R0486:Cyp4f17 UTSW 17 32524823 splice site probably benign
R0606:Cyp4f17 UTSW 17 32527843 missense probably damaging 0.98
R0655:Cyp4f17 UTSW 17 32524897 missense possibly damaging 0.95
R1781:Cyp4f17 UTSW 17 32524019 missense possibly damaging 0.94
R1795:Cyp4f17 UTSW 17 32517969 missense probably benign 0.00
R1833:Cyp4f17 UTSW 17 32524210 missense probably benign 0.01
R2268:Cyp4f17 UTSW 17 32517954 missense probably benign 0.44
R3030:Cyp4f17 UTSW 17 32506976 missense possibly damaging 0.93
R3861:Cyp4f17 UTSW 17 32528104 missense probably damaging 0.97
R5236:Cyp4f17 UTSW 17 32520632 critical splice donor site probably null
R5450:Cyp4f17 UTSW 17 32528886 missense probably benign
R5866:Cyp4f17 UTSW 17 32506913 missense probably benign 0.03
R5886:Cyp4f17 UTSW 17 32524039 missense possibly damaging 0.78
R5965:Cyp4f17 UTSW 17 32524637 missense probably damaging 0.99
R6692:Cyp4f17 UTSW 17 32506976 missense possibly damaging 0.93
R7056:Cyp4f17 UTSW 17 32527872 missense possibly damaging 0.94
R7968:Cyp4f17 UTSW 17 32524142 missense possibly damaging 0.87
Posted On2014-05-07