Incidental Mutation 'IGL03302:Cyp4a14'
ID416245
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4a14
Ensembl Gene ENSMUSG00000028715
Gene Namecytochrome P450, family 4, subfamily a, polypeptide 14
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.078) question?
Stock #IGL03302
Quality Score
Status
Chromosome4
Chromosomal Location115486200-115496142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115491378 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 330 (I330V)
Ref Sequence ENSEMBL: ENSMUSP00000030487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030487]
Predicted Effect probably benign
Transcript: ENSMUST00000030487
AA Change: I330V

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: I330V

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:p450 51 503 5.4e-129 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124412
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male mice homozygous for disruption of this gene display high blood pressure. Blood pressure is elevated in females as well to levels comparable to normotensive males. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b T A 11: 109,967,750 Y542F possibly damaging Het
Ankrd34b A T 13: 92,439,643 N461I possibly damaging Het
Ccl24 T C 5: 135,570,878 K93E probably benign Het
Ccr9 T A 9: 123,779,536 D94E probably damaging Het
Cd79a G A 7: 24,899,334 V103M probably damaging Het
Ces1e A G 8: 93,223,893 probably null Het
Cul9 T C 17: 46,526,640 E993G probably damaging Het
Cyp7a1 T C 4: 6,273,801 D35G probably benign Het
Dmpk C A 7: 19,086,486 probably benign Het
Gcnt1 G T 19: 17,329,183 R393S probably benign Het
Lctl C T 9: 64,134,848 probably benign Het
Mttp A T 3: 138,104,707 I664N possibly damaging Het
Myh1 C T 11: 67,211,502 A873V probably benign Het
Nedd9 A G 13: 41,338,854 V54A probably damaging Het
Olfr1306 A T 2: 111,912,822 V36E possibly damaging Het
Olfr401 T G 11: 74,121,633 C115G possibly damaging Het
Olfr449 G T 6: 42,838,003 E41* probably null Het
Pak6 A T 2: 118,693,303 E313V probably benign Het
Pla2g4a A G 1: 149,864,947 S402P probably benign Het
Polq T C 16: 37,071,772 M2012T probably damaging Het
Ppp1r12b A T 1: 134,838,050 probably benign Het
Rbp3 A G 14: 33,954,659 H188R probably damaging Het
Rps6ka2 C A 17: 7,299,388 Q682K possibly damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Spag4 A G 2: 156,068,420 Q322R probably damaging Het
Spef2 T C 15: 9,676,380 T702A probably benign Het
Taf3 G T 2: 9,952,131 F408L probably damaging Het
Tead2 T G 7: 45,232,899 Y121D possibly damaging Het
Thegl T G 5: 77,054,576 S281R probably benign Het
Tmco5 A T 2: 116,892,279 T294S probably damaging Het
Trim37 A G 11: 87,147,001 E187G possibly damaging Het
Ubb T A 11: 62,552,417 L91Q probably damaging Het
Ugt2a3 G A 5: 87,336,580 P195L probably damaging Het
Zan T C 5: 137,468,390 S402G possibly damaging Het
Zc3h7a T A 16: 11,141,710 H793L probably damaging Het
Zfhx4 C T 3: 5,403,713 T2977I possibly damaging Het
Other mutations in Cyp4a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Cyp4a14 APN 4 115489952 splice site probably benign
IGL01539:Cyp4a14 APN 4 115487177 missense possibly damaging 0.71
IGL01802:Cyp4a14 APN 4 115494937 nonsense probably null
IGL02309:Cyp4a14 APN 4 115491632 missense probably damaging 0.99
IGL02330:Cyp4a14 APN 4 115495027 splice site probably benign
R1037:Cyp4a14 UTSW 4 115489996 missense probably damaging 1.00
R1236:Cyp4a14 UTSW 4 115492170 missense probably benign 0.01
R2132:Cyp4a14 UTSW 4 115491391 missense probably damaging 1.00
R2133:Cyp4a14 UTSW 4 115491391 missense probably damaging 1.00
R2870:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2870:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2871:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2871:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2872:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2872:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R2873:Cyp4a14 UTSW 4 115487301 missense probably damaging 1.00
R4015:Cyp4a14 UTSW 4 115491134 missense probably damaging 1.00
R4925:Cyp4a14 UTSW 4 115495936 missense possibly damaging 0.68
R5104:Cyp4a14 UTSW 4 115495929 missense probably damaging 1.00
R5135:Cyp4a14 UTSW 4 115489960 critical splice donor site probably null
R5150:Cyp4a14 UTSW 4 115493609 missense probably damaging 1.00
R5930:Cyp4a14 UTSW 4 115491410 missense probably damaging 1.00
R5997:Cyp4a14 UTSW 4 115496100 nonsense probably null
R6269:Cyp4a14 UTSW 4 115491131 missense possibly damaging 0.87
R6354:Cyp4a14 UTSW 4 115487244 missense probably damaging 1.00
R6377:Cyp4a14 UTSW 4 115496083 missense probably benign 0.01
R6534:Cyp4a14 UTSW 4 115489959 splice site probably null
R6563:Cyp4a14 UTSW 4 115492086 missense probably benign 0.23
R6751:Cyp4a14 UTSW 4 115491194 missense probably damaging 0.99
R7039:Cyp4a14 UTSW 4 115491081 missense probably benign 0.23
R7125:Cyp4a14 UTSW 4 115491161 missense probably damaging 1.00
R7379:Cyp4a14 UTSW 4 115493710 splice site probably null
R7544:Cyp4a14 UTSW 4 115491086 missense probably damaging 0.98
R7591:Cyp4a14 UTSW 4 115489960 critical splice donor site probably null
R7740:Cyp4a14 UTSW 4 115493609 missense probably damaging 1.00
R7741:Cyp4a14 UTSW 4 115489959 splice site probably null
R7753:Cyp4a14 UTSW 4 115493664 missense probably damaging 1.00
R7789:Cyp4a14 UTSW 4 115494910 missense probably benign 0.00
R8064:Cyp4a14 UTSW 4 115494958 missense probably benign
R8311:Cyp4a14 UTSW 4 115491078 missense probably damaging 1.00
R8458:Cyp4a14 UTSW 4 115495932 missense probably damaging 1.00
Z1176:Cyp4a14 UTSW 4 115490017 missense probably benign 0.01
Z1177:Cyp4a14 UTSW 4 115491453 missense possibly damaging 0.88
Posted On2016-08-02