Incidental Mutation 'R6883:Cyp4a12a'
ID 536887
Institutional Source Beutler Lab
Gene Symbol Cyp4a12a
Ensembl Gene ENSMUSG00000066071
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 12a
Synonyms Cyp4a12
MMRRC Submission 044978-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.083) question?
Stock # R6883 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 115156243-115190012 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 115159221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 164 (V164F)
Ref Sequence ENSEMBL: ENSMUSP00000081370 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084343]
AlphaFold Q91WL5
Predicted Effect probably damaging
Transcript: ENSMUST00000084343
AA Change: V164F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000081370
Gene: ENSMUSG00000066071
AA Change: V164F

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1e-131 PFAM
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.2%
Validation Efficiency 92% (45/49)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaa1b A G 9: 118,985,728 (GRCm39) S66P possibly damaging Het
Adh7 A T 3: 137,929,825 (GRCm39) E167V probably damaging Het
Ano6 T C 15: 95,859,992 (GRCm39) S705P probably damaging Het
Arpc1b T C 5: 145,063,739 (GRCm39) V329A probably benign Het
Btla C T 16: 45,063,092 (GRCm39) H152Y probably benign Het
Cadps T C 14: 12,465,883 (GRCm38) E1009G probably damaging Het
Cttnbp2nl A G 3: 104,918,507 (GRCm39) probably null Het
Duox1 G T 2: 122,155,065 (GRCm39) probably null Het
Fcgbpl1 A T 7: 27,852,260 (GRCm39) H1261L possibly damaging Het
Fmo6 A G 1: 162,757,461 (GRCm39) I104T probably damaging Het
Fnbp4 T C 2: 90,576,172 (GRCm39) probably null Het
Garem1 T C 18: 21,262,769 (GRCm39) T682A probably benign Het
Gm49358 A G 10: 86,651,762 (GRCm39) E188G probably benign Het
Gm5773 T C 3: 93,681,162 (GRCm39) I278T probably benign Het
Ifi27l2a A G 12: 103,409,756 (GRCm39) probably benign Het
Inpp5d A C 1: 87,627,412 (GRCm39) K308T probably damaging Het
Irf6 A T 1: 192,849,774 (GRCm39) Y232F probably damaging Het
Kcnmb4 T C 10: 116,309,248 (GRCm39) Q60R probably benign Het
Klri2 T C 6: 129,709,985 (GRCm39) D205G probably benign Het
Mcm9 A T 10: 53,492,110 (GRCm39) W352R probably damaging Het
Nat8 A G 6: 85,807,650 (GRCm39) V161A possibly damaging Het
Nlrp9c A T 7: 26,077,556 (GRCm39) M742K probably benign Het
Or10ag58 C A 2: 87,265,623 (GRCm39) T264K probably damaging Het
Or13j1 T C 4: 43,705,723 (GRCm39) T282A possibly damaging Het
Or5an10 C A 19: 12,275,934 (GRCm39) Q187H probably damaging Het
Pcdha11 A T 18: 37,144,242 (GRCm39) D111V probably damaging Het
Pcdhb6 A T 18: 37,468,198 (GRCm39) D373V probably damaging Het
Pcolce2 A T 9: 95,560,396 (GRCm39) probably null Het
Pik3cb T C 9: 98,983,453 (GRCm39) M52V probably benign Het
Pipox T C 11: 77,774,729 (GRCm39) E118G probably benign Het
Pou4f2 T C 8: 79,162,307 (GRCm39) S99G probably benign Het
Ptpn12 T A 5: 21,260,711 (GRCm39) Q12L probably benign Het
Sim2 G T 16: 93,926,395 (GRCm39) A540S probably benign Het
Smg1 A T 7: 117,767,403 (GRCm39) probably benign Het
Sntb1 A G 15: 55,769,719 (GRCm39) V90A probably benign Het
Spns2 T C 11: 72,347,196 (GRCm39) probably null Het
Syne1 G T 10: 5,181,704 (GRCm39) C4210* probably null Het
Tek T C 4: 94,725,426 (GRCm39) I564T possibly damaging Het
Tmem94 T G 11: 115,687,287 (GRCm39) C1135W probably damaging Het
Tnxb T A 17: 34,937,493 (GRCm39) D3827E probably damaging Het
Ttl A G 2: 128,923,992 (GRCm39) D235G possibly damaging Het
Tuba4a A G 1: 75,194,066 (GRCm39) S5P probably damaging Het
Uaca T A 9: 60,777,173 (GRCm39) V518D probably damaging Het
Unc80 A T 1: 66,685,563 (GRCm39) Q2229L probably benign Het
Unkl C T 17: 25,449,307 (GRCm39) A78V probably damaging Het
Uroc1 C T 6: 90,315,574 (GRCm39) Q152* probably null Het
Vmn2r51 G T 7: 9,834,025 (GRCm39) Q338K possibly damaging Het
Vps50 C T 6: 3,498,513 (GRCm39) probably benign Het
Other mutations in Cyp4a12a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00931:Cyp4a12a APN 4 115,159,153 (GRCm39) missense possibly damaging 0.87
IGL00948:Cyp4a12a APN 4 115,159,159 (GRCm39) missense probably damaging 0.98
IGL03143:Cyp4a12a APN 4 115,159,200 (GRCm39) missense probably benign 0.00
R0099:Cyp4a12a UTSW 4 115,183,869 (GRCm39) missense probably damaging 1.00
R0371:Cyp4a12a UTSW 4 115,183,880 (GRCm39) missense probably damaging 0.97
R1893:Cyp4a12a UTSW 4 115,183,864 (GRCm39) missense probably benign 0.03
R2018:Cyp4a12a UTSW 4 115,184,702 (GRCm39) missense probably damaging 1.00
R3423:Cyp4a12a UTSW 4 115,184,471 (GRCm39) missense probably benign 0.37
R4445:Cyp4a12a UTSW 4 115,183,980 (GRCm39) critical splice donor site probably null
R4586:Cyp4a12a UTSW 4 115,184,509 (GRCm39) missense probably benign 0.01
R4765:Cyp4a12a UTSW 4 115,183,388 (GRCm39) missense possibly damaging 0.95
R4823:Cyp4a12a UTSW 4 115,184,610 (GRCm39) critical splice acceptor site probably null
R5131:Cyp4a12a UTSW 4 115,185,017 (GRCm39) missense possibly damaging 0.60
R5841:Cyp4a12a UTSW 4 115,183,899 (GRCm39) missense probably benign 0.03
R6017:Cyp4a12a UTSW 4 115,183,476 (GRCm39) nonsense probably null
R6039:Cyp4a12a UTSW 4 115,184,420 (GRCm39) missense probably damaging 1.00
R6039:Cyp4a12a UTSW 4 115,184,420 (GRCm39) missense probably damaging 1.00
R6170:Cyp4a12a UTSW 4 115,184,643 (GRCm39) missense possibly damaging 0.60
R7308:Cyp4a12a UTSW 4 115,184,955 (GRCm39) missense possibly damaging 0.60
R7327:Cyp4a12a UTSW 4 115,184,756 (GRCm39) missense probably damaging 1.00
R7452:Cyp4a12a UTSW 4 115,184,795 (GRCm39) missense probably damaging 1.00
R7595:Cyp4a12a UTSW 4 115,189,089 (GRCm39) missense probably damaging 1.00
R7638:Cyp4a12a UTSW 4 115,184,670 (GRCm39) missense possibly damaging 0.93
R8040:Cyp4a12a UTSW 4 115,183,412 (GRCm39) missense probably benign 0.12
R8303:Cyp4a12a UTSW 4 115,186,130 (GRCm39) missense probably damaging 1.00
R8491:Cyp4a12a UTSW 4 115,158,650 (GRCm39) splice site probably null
R8954:Cyp4a12a UTSW 4 115,185,935 (GRCm39) nonsense probably null
R9031:Cyp4a12a UTSW 4 115,189,199 (GRCm39) makesense probably null
R9356:Cyp4a12a UTSW 4 115,185,915 (GRCm39) missense probably benign
R9674:Cyp4a12a UTSW 4 115,186,156 (GRCm39) missense probably benign 0.00
X0024:Cyp4a12a UTSW 4 115,185,009 (GRCm39) missense probably benign 0.39
Z1176:Cyp4a12a UTSW 4 115,186,200 (GRCm39) critical splice donor site probably null
Predicted Primers PCR Primer
(F):5'- TCATCATATGTACCAGGCCAAC -3'
(R):5'- TGGCATTGACTTTTGTGGAACC -3'

Sequencing Primer
(F):5'- CCTCCAGATCTTCAATGTTTGAC -3'
(R):5'- GCATTGACTTTTGTGGAACCTATTTC -3'
Posted On 2018-10-18