Incidental Mutation 'R3818:Cyp4a12b'
ID 274774
Institutional Source Beutler Lab
Gene Symbol Cyp4a12b
Ensembl Gene ENSMUSG00000078597
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 12B
Synonyms
MMRRC Submission 040772-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R3818 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 115268821-115296231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115289667 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Valine at position 178 (D178V)
Ref Sequence ENSEMBL: ENSMUSP00000092487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094887]
AlphaFold A2A974
Predicted Effect probably damaging
Transcript: ENSMUST00000094887
AA Change: D178V

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: D178V

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1.9e-132 PFAM
Meta Mutation Damage Score 0.5086 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.7%
  • 20x: 96.4%
Validation Efficiency 100% (34/34)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310011J03Rik T C 10: 80,155,351 (GRCm39) D54G probably damaging Het
Adra2b G T 2: 127,205,755 (GRCm39) E86* probably null Het
Cachd1 A T 4: 100,848,062 (GRCm39) D1059V probably damaging Het
Cd177 A G 7: 24,453,817 (GRCm39) V358A probably benign Het
Col25a1 A G 3: 130,343,720 (GRCm39) K396R possibly damaging Het
Csmd1 C T 8: 16,052,522 (GRCm39) A2201T probably damaging Het
Cyp4a30b G T 4: 115,316,206 (GRCm39) A311S probably damaging Het
Dse T C 10: 34,029,429 (GRCm39) I554V probably benign Het
Gabrg3 G A 7: 57,031,412 (GRCm39) Q43* probably null Het
Gjb2 A G 14: 57,337,530 (GRCm39) V226A probably benign Het
Gpr21 C A 2: 37,408,324 (GRCm39) T290N probably damaging Het
Gsdme A C 6: 50,196,391 (GRCm39) S340A probably benign Het
Hivep2 T C 10: 14,019,685 (GRCm39) V2152A possibly damaging Het
Mamdc4 C T 2: 25,455,785 (GRCm39) S840N probably benign Het
Or5p59 A G 7: 107,702,705 (GRCm39) Y63C possibly damaging Het
Or8i2 G A 2: 86,852,054 (GRCm39) T278I probably benign Het
Pah A G 10: 87,357,866 (GRCm39) probably benign Het
Pikfyve T A 1: 65,284,917 (GRCm39) S794T probably damaging Het
Plekhn1 T C 4: 156,309,990 (GRCm39) H108R probably damaging Het
Pomgnt1 T A 4: 116,011,139 (GRCm39) probably null Het
Prkd1 A T 12: 50,466,667 (GRCm39) probably benign Het
Pwp1 C T 10: 85,723,993 (GRCm39) P498L possibly damaging Het
Rasa4 A G 5: 136,131,147 (GRCm39) T414A possibly damaging Het
Rbm26 A T 14: 105,378,706 (GRCm39) L594I probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Skint5 A G 4: 113,486,319 (GRCm39) probably benign Het
Sorcs3 A G 19: 48,592,343 (GRCm39) N336S probably benign Het
Sspo A T 6: 48,458,037 (GRCm39) E3269V possibly damaging Het
Tlr4 A G 4: 66,759,553 (GRCm39) E782G probably benign Het
Tnfrsf11a C T 1: 105,737,085 (GRCm39) T64I probably damaging Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Ttl T C 2: 128,934,914 (GRCm39) V358A probably damaging Het
Wdhd1 A G 14: 47,481,258 (GRCm39) probably null Het
Wdr37 A G 13: 8,903,632 (GRCm39) probably benign Het
Zfp939 T C 7: 39,122,792 (GRCm39) noncoding transcript Het
Other mutations in Cyp4a12b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00850:Cyp4a12b APN 4 115,295,246 (GRCm39) splice site probably null
IGL01571:Cyp4a12b APN 4 115,295,354 (GRCm39) missense probably benign 0.00
IGL02230:Cyp4a12b APN 4 115,291,193 (GRCm39) missense probably damaging 1.00
IGL02720:Cyp4a12b APN 4 115,292,368 (GRCm39) splice site probably benign
IGL03118:Cyp4a12b APN 4 115,290,173 (GRCm39) missense possibly damaging 0.54
IGL03389:Cyp4a12b APN 4 115,291,005 (GRCm39) missense possibly damaging 0.90
R0360:Cyp4a12b UTSW 4 115,290,117 (GRCm39) missense probably benign 0.01
R0364:Cyp4a12b UTSW 4 115,290,117 (GRCm39) missense probably benign 0.01
R0844:Cyp4a12b UTSW 4 115,289,721 (GRCm39) missense possibly damaging 0.67
R1226:Cyp4a12b UTSW 4 115,290,164 (GRCm39) missense possibly damaging 0.80
R1232:Cyp4a12b UTSW 4 115,289,760 (GRCm39) missense possibly damaging 0.81
R1372:Cyp4a12b UTSW 4 115,290,146 (GRCm39) missense probably benign 0.08
R1559:Cyp4a12b UTSW 4 115,291,181 (GRCm39) missense probably damaging 0.98
R1782:Cyp4a12b UTSW 4 115,291,178 (GRCm39) missense probably damaging 1.00
R1817:Cyp4a12b UTSW 4 115,271,259 (GRCm39) splice site probably benign
R1941:Cyp4a12b UTSW 4 115,295,256 (GRCm39) missense probably damaging 1.00
R1978:Cyp4a12b UTSW 4 115,295,342 (GRCm39) missense probably benign 0.01
R2063:Cyp4a12b UTSW 4 115,290,700 (GRCm39) missense possibly damaging 0.87
R2109:Cyp4a12b UTSW 4 115,290,110 (GRCm39) missense probably damaging 0.97
R2911:Cyp4a12b UTSW 4 115,290,723 (GRCm39) nonsense probably null
R3791:Cyp4a12b UTSW 4 115,292,167 (GRCm39) missense probably benign 0.01
R3815:Cyp4a12b UTSW 4 115,289,667 (GRCm39) missense probably damaging 0.98
R3816:Cyp4a12b UTSW 4 115,289,667 (GRCm39) missense probably damaging 0.98
R3817:Cyp4a12b UTSW 4 115,289,667 (GRCm39) missense probably damaging 0.98
R4586:Cyp4a12b UTSW 4 115,289,703 (GRCm39) missense probably damaging 1.00
R5004:Cyp4a12b UTSW 4 115,295,310 (GRCm39) missense probably benign 0.39
R5105:Cyp4a12b UTSW 4 115,290,958 (GRCm39) missense probably damaging 1.00
R5354:Cyp4a12b UTSW 4 115,290,661 (GRCm39) splice site probably null
R5655:Cyp4a12b UTSW 4 115,290,994 (GRCm39) missense probably damaging 1.00
R5814:Cyp4a12b UTSW 4 115,289,694 (GRCm39) missense probably damaging 0.97
R5952:Cyp4a12b UTSW 4 115,271,714 (GRCm39) nonsense probably null
R6004:Cyp4a12b UTSW 4 115,290,664 (GRCm39) missense probably benign 0.35
R6059:Cyp4a12b UTSW 4 115,295,301 (GRCm39) missense possibly damaging 0.94
R6261:Cyp4a12b UTSW 4 115,271,740 (GRCm39) nonsense probably null
R7484:Cyp4a12b UTSW 4 115,289,760 (GRCm39) missense possibly damaging 0.81
R7734:Cyp4a12b UTSW 4 115,268,937 (GRCm39) missense possibly damaging 0.89
R8545:Cyp4a12b UTSW 4 115,290,227 (GRCm39) missense probably benign 0.23
R9031:Cyp4a12b UTSW 4 115,290,865 (GRCm39) missense probably benign 0.00
R9497:Cyp4a12b UTSW 4 115,271,768 (GRCm39) missense probably benign 0.36
RF045:Cyp4a12b UTSW 4 115,289,690 (GRCm39) missense probably benign 0.23
Predicted Primers PCR Primer
(F):5'- ACTAAGTTGACAATGAAAATCAGCC -3'
(R):5'- TCTGCAGTATATCTGAGACAGAATAG -3'

Sequencing Primer
(F):5'- CTTCACAACATCTGATACAGGGAGTC -3'
(R):5'- TCTGAGACAGAATAGAGAATCTTGTG -3'
Posted On 2015-04-02