Incidental Mutation 'R0099:Cyp4a12a'
ID33139
Institutional Source Beutler Lab
Gene Symbol Cyp4a12a
Ensembl Gene ENSMUSG00000066071
Gene Namecytochrome P450, family 4, subfamily a, polypeptide 12a
SynonymsCyp4a12
MMRRC Submission 038385-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.050) question?
Stock #R0099 (G1)
Quality Score213
Status Validated (trace)
Chromosome4
Chromosomal Location115299046-115332815 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 115326672 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 225 (L225P)
Ref Sequence ENSEMBL: ENSMUSP00000081370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084343]
Predicted Effect probably damaging
Transcript: ENSMUST00000084343
AA Change: L225P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081370
Gene: ENSMUSG00000066071
AA Change: L225P

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1e-131 PFAM
Meta Mutation Damage Score 0.402 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.3%
Validation Efficiency 100% (65/65)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A930018M24Rik C T 14: 50,896,722 probably benign Het
Acad10 A C 5: 121,621,290 D1043E probably damaging Het
Adamtsl4 C T 3: 95,684,139 G173R probably benign Het
Astn1 G T 1: 158,502,151 S192I probably damaging Het
Atg2a T A 19: 6,252,789 V1010E probably damaging Het
C130079G13Rik A C 3: 59,936,435 K183N probably benign Het
Col11a2 A G 17: 34,049,674 E311G probably damaging Het
Col4a3 A C 1: 82,717,993 E1638A probably benign Het
Cstf2t A G 19: 31,083,831 R256G probably benign Het
Diexf A G 1: 193,128,470 L75P probably damaging Het
Dnah5 G A 15: 28,239,934 R479H probably damaging Het
Dsg3 A G 18: 20,540,022 I917V probably benign Het
Fam76a G T 4: 132,910,787 probably benign Het
Fras1 T A 5: 96,614,917 probably null Het
Gli1 A G 10: 127,336,006 V293A probably damaging Het
Gm10782 T A 13: 56,363,143 noncoding transcript Het
Greb1l A G 18: 10,509,158 E490G probably damaging Het
Hydin G A 8: 110,589,561 G4362R probably damaging Het
Ica1 A T 6: 8,749,778 probably benign Het
Ikzf4 T A 10: 128,634,197 I485F probably damaging Het
Irf5 A G 6: 29,533,967 T34A probably damaging Het
Krt81 A T 15: 101,463,521 C59* probably null Het
Kynu T A 2: 43,629,053 probably null Het
Ly6g6c T C 17: 35,068,915 V61A probably damaging Het
Manea A C 4: 26,328,104 I312M probably damaging Het
Micall1 G T 15: 79,131,901 probably benign Het
Mthfs A T 9: 89,226,163 probably benign Het
Myh4 A G 11: 67,259,347 T1877A probably benign Het
Myo3a T C 2: 22,245,598 I92T probably benign Het
Nepn A G 10: 52,401,085 S306G probably damaging Het
Nol8 T C 13: 49,672,689 V995A probably benign Het
Olfr1453 A G 19: 13,027,801 F176S probably damaging Het
Olfr1458 T A 19: 13,103,140 T49S probably benign Het
Olfr160 A T 9: 37,711,454 V275E probably damaging Het
Olfr967 A G 9: 39,750,661 I92V possibly damaging Het
Pde1a T A 2: 79,868,313 probably null Het
Phf14 A G 6: 11,987,697 probably benign Het
Plekhh2 C T 17: 84,591,672 Q1026* probably null Het
Polr2b T A 5: 77,320,950 probably benign Het
Ppp1r36 G T 12: 76,436,282 probably null Het
Prdm14 A T 1: 13,118,945 C392S probably damaging Het
Rabgap1l A G 1: 160,682,116 S436P possibly damaging Het
Rfc2 A T 5: 134,595,281 probably null Het
Rfx4 A T 10: 84,894,304 M437L probably benign Het
Rgs17 T A 10: 5,842,583 R74S probably benign Het
Rnf139 C A 15: 58,899,415 L430I probably damaging Het
Sgsm1 C A 5: 113,274,360 probably benign Het
Skint6 T A 4: 112,811,501 T1126S possibly damaging Het
Slc15a2 T C 16: 36,753,036 E602G probably damaging Het
Stpg2 T C 3: 139,243,193 probably benign Het
Sycp2l T C 13: 41,129,525 probably benign Het
Tlr11 A T 14: 50,360,818 N87I probably benign Het
Tril A G 6: 53,818,363 F625L probably damaging Het
Ube3c T A 5: 29,607,064 V434E probably damaging Het
Usp34 G A 11: 23,363,111 G533R probably damaging Het
Zfp93 G T 7: 24,275,475 R295L probably benign Het
Other mutations in Cyp4a12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Cyp4a12a APN 4 115301956 missense possibly damaging 0.87
IGL00948:Cyp4a12a APN 4 115301962 missense probably damaging 0.98
IGL03143:Cyp4a12a APN 4 115302003 missense probably benign 0.00
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
R6885:Cyp4a12a UTSW 4 115302024 missense probably damaging 1.00
X0024:Cyp4a12a UTSW 4 115327812 missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- TGGAAGCCTGAATGGGAAGCCATC -3'
(R):5'- AGAGGACCAAAGGACTTGGCTCTG -3'

Sequencing Primer
(F):5'- TGGGAAGCCATCTTCTAAAGAC -3'
(R):5'- TGGCTCTGCCTCAGAATTATG -3'
Posted On2013-05-09