Incidental Mutation 'IGL01539:Cyp4a14'
ID90106
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: 0.075) question?
Stock #IGL01539
Quality Score
Status
Chromosome4
Chromosomal Location115486200-115496142 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115487177 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 497 (N497S)
Ref Sequence ENSEMBL: ENSMUSP00000030487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030487]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030487
AA Change: N497S

PolyPhen 2 Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000030487
Gene: ENSMUSG00000028715
AA Change: N497S

DomainStartEndE-ValueType
transmembrane domain 15 32 N/A INTRINSIC
Pfam:p450 51 503 5.4e-129 PFAM
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: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Clca4b T A 3: 144,926,157 M196L probably benign Het
Eif3b T C 5: 140,430,253 probably benign Het
Gm5724 A G 6: 141,727,607 S402P possibly damaging Het
Grin2c T C 11: 115,250,106 Q1062R probably benign Het
Ina A G 19: 47,015,464 E237G probably damaging Het
Lmx1b T C 2: 33,639,498 D83G possibly damaging Het
Macf1 A G 4: 123,395,908 probably benign Het
Muc6 T A 7: 141,650,041 M406L probably benign Het
Myo15b T C 11: 115,863,473 I933T probably benign Het
Olfr1226 A G 2: 89,193,492 F181L possibly damaging Het
Olfr773 T C 10: 129,186,935 N162S probably benign Het
Pde1b A T 15: 103,525,345 probably benign Het
Rab29 G A 1: 131,870,707 R75Q probably damaging Het
Scn10a A T 9: 119,638,698 I792N probably damaging Het
Serpinb6a A T 13: 33,930,134 V70D probably damaging Het
Spg20 A G 3: 55,117,302 D106G possibly damaging Het
Sucla2 A G 14: 73,591,121 E359G probably damaging Het
Sycp2 T C 2: 178,374,695 Y658C probably damaging Het
Tenm2 T A 11: 36,106,827 T811S possibly damaging Het
Trim66 C A 7: 109,455,066 M1312I probably benign Het
Tspan18 A G 2: 93,210,853 S135P probably damaging Het
Ube2j1 T C 4: 33,043,993 probably benign Het
Ubr1 A C 2: 120,926,013 V711G possibly damaging Het
Veph1 T C 3: 66,158,075 T524A probably benign Het
Vmn1r222 A T 13: 23,232,889 F51L probably benign Het
Vwf G T 6: 125,590,262 V338L possibly damaging Het
Zfp770 G T 2: 114,197,093 A165E probably damaging Het
Other mutations in Cyp4a14
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Cyp4a14 APN 4 115489952 splice site probably benign
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
IGL03302:Cyp4a14 APN 4 115491378 missense probably benign 0.00
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
Posted On2013-12-03