Incidental Mutation 'R1978:Cyp4a12b'
ID 221970
Institutional Source Beutler Lab
Gene Symbol Cyp4a12b
Ensembl Gene ENSMUSG00000078597
Gene Name cytochrome P450, family 4, subfamily a, polypeptide 12B
Synonyms
MMRRC Submission 039991-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1978 (G1)
Quality Score 207
Status Not validated
Chromosome 4
Chromosomal Location 115268821-115296231 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 115295342 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 483 (T483S)
Ref Sequence ENSEMBL: ENSMUSP00000092487 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094887]
AlphaFold A2A974
Predicted Effect probably benign
Transcript: ENSMUST00000094887
AA Change: T483S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000092487
Gene: ENSMUSG00000078597
AA Change: T483S

DomainStartEndE-ValueType
low complexity region 18 39 N/A INTRINSIC
Pfam:p450 51 503 1.9e-132 PFAM
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,880 (GRCm39) C205* probably null Het
4921539E11Rik T A 4: 103,127,961 (GRCm39) T55S possibly damaging Het
Akap12 A G 10: 4,263,855 (GRCm39) D88G probably benign Het
Ankrd53 C A 6: 83,740,185 (GRCm39) F84L probably damaging Het
Apol7b A C 15: 77,307,539 (GRCm39) F319V probably damaging Het
Bsn A G 9: 107,991,748 (GRCm39) S1335P probably benign Het
Cep192 T C 18: 67,936,228 (GRCm39) probably null Het
Cfap57 A G 4: 118,450,329 (GRCm39) S598P probably benign Het
Commd8 T C 5: 72,322,842 (GRCm39) H25R probably damaging Het
Crisp4 T C 1: 18,198,889 (GRCm39) I143V probably benign Het
Dbx2 C T 15: 95,530,234 (GRCm39) M244I probably damaging Het
Dnah6 T G 6: 73,098,953 (GRCm39) H1982P possibly damaging Het
Fam220a C A 5: 143,548,882 (GRCm39) P98Q probably damaging Het
Ggnbp1 A G 17: 27,248,517 (GRCm39) K29E possibly damaging Het
Gm14569 A C X: 35,695,781 (GRCm39) M976R probably benign Het
Hck G T 2: 152,971,776 (GRCm39) W112C probably damaging Het
Heatr5a A T 12: 51,986,441 (GRCm39) S591T possibly damaging Het
Hhat A G 1: 192,399,415 (GRCm39) S242P probably benign Het
Hnrnpll A G 17: 80,351,947 (GRCm39) S333P probably benign Het
Hoxc6 T C 15: 102,918,439 (GRCm39) probably null Het
Inpp5j G A 11: 3,452,150 (GRCm39) P367S probably damaging Het
Lamc2 A G 1: 153,009,343 (GRCm39) probably null Het
Loxhd1 T A 18: 77,409,338 (GRCm39) I194N possibly damaging Het
Miga1 CCAGGGCAG CCAG 3: 152,040,941 (GRCm39) probably null Het
Mkln1 C T 6: 31,467,465 (GRCm39) Q60* probably null Het
Muc21 T A 17: 35,933,857 (GRCm39) probably benign Het
Mybph C A 1: 134,124,734 (GRCm39) H185N probably benign Het
Myo1g T C 11: 6,470,829 (GRCm39) D9G possibly damaging Het
Myo6 A T 9: 80,136,207 (GRCm39) D110V probably damaging Het
Ncoa7 A G 10: 30,567,295 (GRCm39) V412A probably benign Het
Neb T C 2: 52,177,357 (GRCm39) K1328R probably damaging Het
Olfm5 T A 7: 103,813,948 (GRCm39) Q22L unknown Het
Or10ak7 A T 4: 118,791,381 (GRCm39) Y221* probably null Het
Or4d11 T C 19: 12,013,705 (GRCm39) T134A probably benign Het
Or5j1 C T 2: 86,879,179 (GRCm39) V134M possibly damaging Het
Or6b3 C A 1: 92,439,499 (GRCm39) G84C probably damaging Het
Or6p1 T A 1: 174,258,657 (GRCm39) I221N probably damaging Het
Or7a39 A G 10: 78,715,114 (GRCm39) Y36C probably damaging Het
P3h1 A T 4: 119,105,173 (GRCm39) Q717L probably null Het
Pclo T C 5: 14,763,809 (GRCm39) I4094T unknown Het
Pfdn6 G A 17: 34,158,051 (GRCm39) R73W probably benign Het
Phyhipl A C 10: 70,395,591 (GRCm39) M205R possibly damaging Het
Pitpnm1 C T 19: 4,157,973 (GRCm39) probably null Het
Plcg1 A G 2: 160,594,498 (GRCm39) probably null Het
Pnldc1 A G 17: 13,125,392 (GRCm39) S81P possibly damaging Het
Pno1 T C 11: 17,154,519 (GRCm39) I221V possibly damaging Het
Porcn A G X: 8,070,540 (GRCm39) V75A probably damaging Het
Prkcg T A 7: 3,353,862 (GRCm39) C69S probably damaging Het
Rbbp6 G T 7: 122,598,711 (GRCm39) probably benign Het
Resf1 T A 6: 149,227,930 (GRCm39) N325K probably benign Het
Rif1 GCCACCA GCCA 2: 52,000,336 (GRCm39) probably benign Het
Scly A G 1: 91,247,891 (GRCm39) D413G probably damaging Het
Scn11a G A 9: 119,609,861 (GRCm39) R996* probably null Het
Skic3 T C 13: 76,282,934 (GRCm39) V752A probably benign Het
Slc6a13 A T 6: 121,309,332 (GRCm39) D281V probably damaging Het
Slfn5 T C 11: 82,847,442 (GRCm39) V109A probably benign Het
Smyd1 A T 6: 71,289,703 (GRCm39) probably null Het
Snx29 T A 16: 11,185,588 (GRCm39) M57K probably benign Het
Stag1 T G 9: 100,770,139 (GRCm39) I603S probably benign Het
Svep1 C A 4: 58,097,292 (GRCm39) C1417F possibly damaging Het
Tbc1d23 T C 16: 57,009,714 (GRCm39) I392V probably benign Het
Tchh T C 3: 93,354,106 (GRCm39) L1182P unknown Het
Tle3 T A 9: 61,301,915 (GRCm39) V108E probably damaging Het
Tmem144 T C 3: 79,732,707 (GRCm39) probably null Het
Tpr T G 1: 150,295,658 (GRCm39) L894V possibly damaging Het
Trappc9 A T 15: 72,871,874 (GRCm39) V472E probably damaging Het
Trim38 T C 13: 23,975,081 (GRCm39) V340A probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Vmn1r12 T A 6: 57,136,494 (GRCm39) I197N possibly damaging Het
Vmn1r26 T C 6: 57,986,111 (GRCm39) Y26C possibly damaging Het
Vwa3a A G 7: 120,358,177 (GRCm39) I83V probably null Het
Xirp1 C T 9: 119,847,657 (GRCm39) E409K probably benign Het
Zc3h14 T G 12: 98,730,181 (GRCm39) I46R probably damaging Het
Zfp976 A G 7: 42,263,265 (GRCm39) C191R probably 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
R1941:Cyp4a12b UTSW 4 115,295,256 (GRCm39) missense probably damaging 1.00
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'- GCCCTAGATGTCCAGCTCTATG -3'
(R):5'- TGCAGTCTGGTTAGGGACAG -3'

Sequencing Primer
(F):5'- GCTAGAGCACAGAGGACAATGC -3'
(R):5'- TCTGGTTAGGGACAGGTAGAG -3'
Posted On 2014-08-25