Incidental Mutation 'IGL00948:Cyp4a12a'
ID27287
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Cyp4a12a
Ensembl Gene ENSMUSG00000066071
Gene Namecytochrome P450, family 4, subfamily a, polypeptide 12a
SynonymsCyp4a12
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.086) question?
Stock #IGL00948
Quality Score
Status
Chromosome4
Chromosomal Location115299046-115332815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 115301962 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 143 (M143K)
Ref Sequence ENSEMBL: ENSMUSP00000081370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084343]
Predicted Effect probably damaging
Transcript: ENSMUST00000084343
AA Change: M143K

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000081370
Gene: ENSMUSG00000066071
AA Change: M143K

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1e-131 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ccl2 A T 11: 82,035,732 Q24L possibly damaging Het
Cd33 G A 7: 43,529,558 probably benign Het
Cmya5 T C 13: 93,091,036 I2515V probably benign Het
Cntnap5b A G 1: 100,141,357 T101A probably benign Het
Ephb4 C A 5: 137,366,659 S663R probably damaging Het
Gm4847 T C 1: 166,630,338 D482G probably benign Het
Gskip C A 12: 105,698,844 N47K probably damaging Het
Kmt2c T C 5: 25,377,161 Y473C probably benign Het
Lrrc7 T A 3: 158,161,557 N849I probably damaging Het
Magel2 T A 7: 62,379,322 V658E unknown Het
Nmral1 C T 16: 4,716,406 G57E probably damaging Het
Olfr801 A T 10: 129,669,887 L211I probably damaging Het
Olfr921 C T 9: 38,775,812 Q186* probably null Het
Padi3 C A 4: 140,788,943 R542L possibly damaging Het
Plrg1 T C 3: 83,068,119 V260A probably damaging Het
Prex2 A G 1: 11,170,614 H982R probably damaging Het
Rbm26 T A 14: 105,150,343 T448S probably damaging Het
Ryr1 C T 7: 29,020,195 M4262I possibly damaging Het
Slc41a3 A T 6: 90,645,714 D441V probably damaging Het
Slc7a2 A G 8: 40,912,524 E448G probably benign Het
Smtnl2 C A 11: 72,411,241 probably null Het
Tox3 G A 8: 90,270,434 P66L probably damaging Het
Vmn1r19 T C 6: 57,405,262 F267L probably benign Het
Vmn2r12 A G 5: 109,097,675 S64P possibly damaging Het
Zfp764 T C 7: 127,405,204 S252G possibly damaging Het
Other mutations in Cyp4a12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Cyp4a12a APN 4 115301956 missense possibly damaging 0.87
IGL03143:Cyp4a12a APN 4 115302003 missense probably benign 0.00
R0099:Cyp4a12a UTSW 4 115326672 missense probably damaging 1.00
R0371:Cyp4a12a UTSW 4 115326683 missense probably damaging 0.97
R1893:Cyp4a12a UTSW 4 115326667 missense probably benign 0.03
R2018:Cyp4a12a UTSW 4 115327505 missense probably damaging 1.00
R3423:Cyp4a12a UTSW 4 115327274 missense probably benign 0.37
R4445:Cyp4a12a UTSW 4 115326783 critical splice donor site probably null
R4586:Cyp4a12a UTSW 4 115327312 missense probably benign 0.01
R4765:Cyp4a12a UTSW 4 115326191 missense possibly damaging 0.95
R4823:Cyp4a12a UTSW 4 115327413 critical splice acceptor site probably null
R5131:Cyp4a12a UTSW 4 115327820 missense possibly damaging 0.60
R5841:Cyp4a12a UTSW 4 115326702 missense probably benign 0.03
R6017:Cyp4a12a UTSW 4 115326279 nonsense probably null
R6039:Cyp4a12a UTSW 4 115327223 missense probably damaging 1.00
R6039:Cyp4a12a UTSW 4 115327223 missense probably damaging 1.00
R6170:Cyp4a12a UTSW 4 115327446 missense possibly damaging 0.60
R6883:Cyp4a12a UTSW 4 115302024 missense probably damaging 1.00
R7308:Cyp4a12a UTSW 4 115327758 missense possibly damaging 0.60
R7327:Cyp4a12a UTSW 4 115327559 missense probably damaging 1.00
R7452:Cyp4a12a UTSW 4 115327598 missense probably damaging 1.00
R7595:Cyp4a12a UTSW 4 115331892 missense probably damaging 1.00
R7638:Cyp4a12a UTSW 4 115327473 missense possibly damaging 0.93
R8040:Cyp4a12a UTSW 4 115326215 missense probably benign 0.12
R8303:Cyp4a12a UTSW 4 115328933 missense probably damaging 1.00
X0024:Cyp4a12a UTSW 4 115327812 missense probably benign 0.39
Z1176:Cyp4a12a UTSW 4 115329003 critical splice donor site probably null
Posted On2013-04-17