Incidental Mutation 'R1941:Cyp4a12b'
ID 213994
Institutional Source Beutler Lab
Gene Symbol Cyp4a12b
Ensembl Gene ENSMUSG00000078597
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 12B
Synonyms
MMRRC Submission 039959-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1941 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 115268821-115296231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115295256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 454 (N454S)
Ref Sequence ENSEMBL: ENSMUSP00000092487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094887]
AlphaFold A2A974
Predicted Effect probably damaging
Transcript: ENSMUST00000094887
AA Change: N454S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: N454S

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1.9e-132 PFAM
Coding Region Coverage
  • 1x: 97.3%
  • 3x: 96.6%
  • 10x: 94.8%
  • 20x: 91.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Art2b A C 7: 101,229,524 (GRCm39) F125C probably damaging Het
Camta1 T C 4: 151,159,612 (GRCm39) Y1616C probably damaging Het
Cep162 T G 9: 87,082,048 (GRCm39) I1286L probably benign Het
Chd9 T A 8: 91,703,697 (GRCm39) probably null Het
Col11a2 T A 17: 34,263,925 (GRCm39) S247T probably benign Het
Col6a4 T G 9: 105,952,209 (GRCm39) D563A probably benign Het
Crebbp C T 16: 3,997,555 (GRCm39) M176I probably benign Het
Dhx8 T C 11: 101,643,024 (GRCm39) probably null Het
Dock7 G A 4: 98,872,952 (GRCm39) L1165F probably benign Het
Fam117a A T 11: 95,271,624 (GRCm39) N399Y probably damaging Het
Fmn1 A G 2: 113,195,488 (GRCm39) K396R unknown Het
Foxk1 T A 5: 142,442,429 (GRCm39) V693E possibly damaging Het
Gml A G 15: 74,689,020 (GRCm39) L10P probably damaging Het
Gpx8 A G 13: 113,182,809 (GRCm39) L34P probably damaging Het
Kank2 A G 9: 21,684,162 (GRCm39) L689P possibly damaging Het
Mt4 G A 8: 94,864,874 (GRCm39) C16Y possibly damaging Het
Naa15 C A 3: 51,363,355 (GRCm39) Y346* probably null Het
Ntrk3 C T 7: 77,897,010 (GRCm39) V676I probably damaging Het
Oasl2 G A 5: 115,049,423 (GRCm39) probably benign Het
Or1e1c T A 11: 73,266,447 (GRCm39) F294I probably damaging Het
Or6c215 T A 10: 129,638,281 (GRCm39) M38L probably benign Het
Or6c8 T G 10: 128,915,823 (GRCm39) N3T probably damaging Het
Or7e169 G A 9: 19,757,246 (GRCm39) S223F probably damaging Het
Or7g20 A C 9: 18,947,162 (GRCm39) T248P possibly damaging Het
Otud7a C T 7: 63,379,574 (GRCm39) R273* probably null Het
Pcare T G 17: 72,059,063 (GRCm39) T205P probably damaging Het
Pde11a C T 2: 76,121,594 (GRCm39) R329Q probably benign Het
Pga5 G T 19: 10,646,820 (GRCm39) probably null Het
Ppp1r1a A G 15: 103,441,528 (GRCm39) probably null Het
Pus10 A G 11: 23,661,198 (GRCm39) Q262R possibly damaging Het
Rbm17 T C 2: 11,593,885 (GRCm39) K241R possibly damaging Het
Rp1l1 T G 14: 64,259,701 (GRCm39) D114E probably damaging Het
Safb T A 17: 56,905,992 (GRCm39) probably benign Het
Sgpl1 T C 10: 60,939,086 (GRCm39) Y371C probably damaging Het
Siglec1 C A 2: 130,920,051 (GRCm39) A827S possibly damaging Het
Smg5 T A 3: 88,252,687 (GRCm39) S158T possibly damaging Het
Sp2 C T 11: 96,846,762 (GRCm39) C527Y probably damaging Het
Spaca6 A G 17: 18,058,664 (GRCm39) I71V probably benign Het
Spaca6 A G 17: 18,058,692 (GRCm39) E80G probably damaging Het
Steap1 C A 5: 5,790,541 (GRCm39) A136S probably damaging Het
Supv3l1 G C 10: 62,285,391 (GRCm39) P25R probably benign Het
Tex21 T C 12: 76,268,458 (GRCm39) K108R possibly damaging Het
Tnc A G 4: 63,933,201 (GRCm39) Y688H probably damaging Het
Tnr G A 1: 159,677,704 (GRCm39) E30K possibly damaging Het
Tnrc18 G T 5: 142,800,905 (GRCm39) P18T probably damaging Het
Ttk T G 9: 83,735,179 (GRCm39) S422A probably benign Het
Ubap1 A G 4: 41,378,968 (GRCm39) K61E probably damaging Het
Ubr2 C T 17: 47,284,952 (GRCm39) R522H probably damaging Het
Vwf A T 6: 125,616,242 (GRCm39) E1185D possibly damaging Het
Wwp2 A G 8: 108,244,547 (GRCm39) T194A probably benign Het
Zfp36 A G 7: 28,077,071 (GRCm39) V279A probably damaging Het
Zfp870 C A 17: 33,101,778 (GRCm39) R517L possibly damaging 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
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
R3818: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'- TTAAGGCCCAAGGTAGAGGT -3'
(R):5'- TGGAAGCCCAGCAGAAGGT -3'

Sequencing Primer
(F):5'- CCCAAGGTAGAGGTATACATGTGTG -3'
(R):5'- AGCAGGCCATTTGAGCTGTC -3'
Posted On 2014-07-14