Incidental Mutation 'R6927:Cyp3a13'
ID 541150
Institutional Source Beutler Lab
Gene Symbol Cyp3a13
Ensembl Gene ENSMUSG00000029727
Gene Name cytochrome P450, family 3, subfamily a, polypeptide 13
Synonyms steroid inducible, IIIAm2
MMRRC Submission 045044-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6927 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 137891194-137919881 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 137893546 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 439 (P439S)
Ref Sequence ENSEMBL: ENSMUSP00000031741 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031741]
AlphaFold Q64464
Predicted Effect probably damaging
Transcript: ENSMUST00000031741
AA Change: P439S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000031741
Gene: ENSMUSG00000029727
AA Change: P439S

DomainStartEndE-ValueType
low complexity region 14 24 N/A INTRINSIC
Pfam:p450 38 493 1.3e-130 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.0%
  • 20x: 96.1%
Validation Efficiency 98% (57/58)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the cytochrome P450 superfamily of enzymes, which participate in drug metabolism and the synthesis of cholesterol, steroids and other lipids. This enzyme hydroxylates testosterone and dehydroepiandrosterone 3-sulphate, which is involved in the formation of estriol during pregnancy. This gene is part of a cluster of related genes on chromosome 7q21.1. Naturally-occurring readthrough transcription occurs between this gene and the downstream CYP3A51P pseudogene and is represented by GeneID:100861540. [provided by RefSeq, Jan 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show no apparent alterations in hematology, plasma clinical chemistry or pathology. [provided by MGI curators]
Allele List at MGI

All alleles(6) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(3)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,635,317 (GRCm39) W229R probably damaging Het
Adck2 T C 6: 39,560,998 (GRCm39) probably null Het
Ahi1 A T 10: 20,930,968 (GRCm39) N936I probably damaging Het
Ass1 T C 2: 31,404,813 (GRCm39) S365P probably damaging Het
Atp9b T C 18: 80,935,072 (GRCm39) K208E possibly damaging Het
Bag6 G A 17: 35,364,898 (GRCm39) probably null Het
Bptf A T 11: 106,945,421 (GRCm39) V2491E probably damaging Het
Cd300ld2 T A 11: 114,904,619 (GRCm39) R83W probably damaging Het
Chrnd T C 1: 87,126,434 (GRCm39) F396L probably damaging Het
Dnhd1 C A 7: 105,364,770 (GRCm39) H4279N probably damaging Het
Fam118a T C 15: 84,929,038 (GRCm39) probably null Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fasn T A 11: 120,699,115 (GRCm39) D2386V probably benign Het
Fat1 G A 8: 45,477,532 (GRCm39) V2170I probably benign Het
Fdps T C 3: 89,000,958 (GRCm39) R374G probably benign Het
Fhl5 T C 4: 25,213,681 (GRCm39) D85G probably benign Het
Flvcr1 T C 1: 190,757,861 (GRCm39) M144V possibly damaging Het
Gask1b T C 3: 79,848,769 (GRCm39) I505T probably damaging Het
Gpr31b A G 17: 13,270,765 (GRCm39) S135P probably damaging Het
Hey2 A T 10: 30,710,413 (GRCm39) D113E probably benign Het
Hoxc5 T A 15: 102,923,807 (GRCm39) I201N probably damaging Het
Ighv1-50 A T 12: 115,083,794 (GRCm39) W3R probably damaging Het
Impa1 A G 3: 10,380,348 (GRCm39) I208T probably benign Het
Iqcj T C 3: 67,954,624 (GRCm39) L43P possibly damaging Het
Itga10 T C 3: 96,564,030 (GRCm39) F895L probably damaging Het
Kdm4b T C 17: 56,706,435 (GRCm39) C850R probably damaging Het
Krt25 A T 11: 99,208,205 (GRCm39) I341N probably damaging Het
L3mbtl3 T A 10: 26,168,567 (GRCm39) R621* probably null Het
Lipm T C 19: 34,078,563 (GRCm39) probably benign Het
Macrod2 A T 2: 142,098,441 (GRCm39) D286V probably damaging Het
Mad2l2 T A 4: 148,225,411 (GRCm39) V27E possibly damaging Het
Map4k4 T A 1: 40,050,842 (GRCm39) H768Q probably benign Het
Mgat4d A G 8: 84,081,496 (GRCm39) N83S probably benign Het
Nucb1 C T 7: 45,148,282 (GRCm39) R141H possibly damaging Het
Or2t46 A G 11: 58,472,491 (GRCm39) K274E possibly damaging Het
Pcdhga2 A C 18: 37,803,719 (GRCm39) D521A probably damaging Het
Pcnx1 T C 12: 81,964,586 (GRCm39) V251A probably benign Het
Pdf A T 8: 107,774,833 (GRCm39) M133K probably damaging Het
Piezo2 A G 18: 63,166,057 (GRCm39) F2058S probably damaging Het
Plekhb2 T A 1: 34,915,982 (GRCm39) probably null Het
Ppp2r3d G C 9: 101,052,547 (GRCm39) H221D probably damaging Het
Prl2c5 A T 13: 13,357,503 (GRCm39) probably null Het
Puf60 T A 15: 75,947,663 (GRCm39) M49L probably benign Het
Rdh16f1 T C 10: 127,624,561 (GRCm39) V133A probably benign Het
Robo2 T A 16: 73,778,946 (GRCm39) D389V probably damaging Het
Slc22a23 G T 13: 34,528,362 (GRCm39) A140D probably benign Het
Slc25a42 A G 8: 70,641,573 (GRCm39) L136P probably damaging Het
Slc36a3 T A 11: 55,020,519 (GRCm39) M284L probably damaging Het
Tas2r115 T A 6: 132,714,895 (GRCm39) I19F probably damaging Het
Tmc2 A G 2: 130,103,300 (GRCm39) H812R probably benign Het
Vmn2r26 A G 6: 124,016,057 (GRCm39) S174G possibly damaging Het
Vstm4 T A 14: 32,585,959 (GRCm39) probably null Het
Vwc2 C A 11: 11,104,250 (GRCm39) P261T probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp335 A G 2: 164,735,640 (GRCm39) C1105R probably damaging Het
Zfp488 A G 14: 33,692,755 (GRCm39) L136P probably benign Het
Zzef1 G A 11: 72,803,983 (GRCm39) R2575H probably damaging Het
Other mutations in Cyp3a13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00501:Cyp3a13 APN 5 137,910,195 (GRCm39) missense probably benign 0.08
IGL01879:Cyp3a13 APN 5 137,917,265 (GRCm39) missense probably benign
IGL01886:Cyp3a13 APN 5 137,897,082 (GRCm39) missense probably damaging 1.00
IGL02048:Cyp3a13 APN 5 137,917,257 (GRCm39) splice site probably benign
IGL02102:Cyp3a13 APN 5 137,909,865 (GRCm39) missense probably benign 0.00
IGL02285:Cyp3a13 APN 5 137,908,229 (GRCm39) missense probably benign 0.38
IGL03213:Cyp3a13 APN 5 137,892,529 (GRCm39) utr 3 prime probably benign
IGL03238:Cyp3a13 APN 5 137,897,151 (GRCm39) missense probably damaging 0.99
G4846:Cyp3a13 UTSW 5 137,897,085 (GRCm39) missense possibly damaging 0.55
IGL02988:Cyp3a13 UTSW 5 137,897,272 (GRCm39) nonsense probably null
PIT4486001:Cyp3a13 UTSW 5 137,908,228 (GRCm39) missense probably benign 0.17
R0319:Cyp3a13 UTSW 5 137,897,124 (GRCm39) missense probably damaging 1.00
R1024:Cyp3a13 UTSW 5 137,892,626 (GRCm39) missense possibly damaging 0.56
R1189:Cyp3a13 UTSW 5 137,909,892 (GRCm39) splice site probably null
R1464:Cyp3a13 UTSW 5 137,903,827 (GRCm39) missense possibly damaging 0.83
R1464:Cyp3a13 UTSW 5 137,903,827 (GRCm39) missense possibly damaging 0.83
R1501:Cyp3a13 UTSW 5 137,909,892 (GRCm39) splice site probably null
R1838:Cyp3a13 UTSW 5 137,909,894 (GRCm39) splice site probably null
R1956:Cyp3a13 UTSW 5 137,908,204 (GRCm39) missense probably benign 0.02
R1981:Cyp3a13 UTSW 5 137,910,118 (GRCm39) missense probably damaging 0.97
R2048:Cyp3a13 UTSW 5 137,908,237 (GRCm39) missense probably damaging 0.98
R2140:Cyp3a13 UTSW 5 137,919,716 (GRCm39) missense possibly damaging 0.93
R4844:Cyp3a13 UTSW 5 137,915,813 (GRCm39) missense probably benign
R5001:Cyp3a13 UTSW 5 137,897,178 (GRCm39) missense probably benign 0.00
R5062:Cyp3a13 UTSW 5 137,897,161 (GRCm39) missense possibly damaging 0.52
R5420:Cyp3a13 UTSW 5 137,897,243 (GRCm39) missense probably damaging 1.00
R5855:Cyp3a13 UTSW 5 137,917,318 (GRCm39) missense probably damaging 0.98
R6089:Cyp3a13 UTSW 5 137,908,215 (GRCm39) missense probably benign 0.07
R6978:Cyp3a13 UTSW 5 137,903,801 (GRCm39) missense probably benign 0.01
R7283:Cyp3a13 UTSW 5 137,903,818 (GRCm39) missense probably benign 0.01
R7571:Cyp3a13 UTSW 5 137,897,125 (GRCm39) missense possibly damaging 0.93
R7781:Cyp3a13 UTSW 5 137,897,136 (GRCm39) missense possibly damaging 0.94
R8281:Cyp3a13 UTSW 5 137,892,559 (GRCm39) missense probably benign 0.01
R8987:Cyp3a13 UTSW 5 137,909,849 (GRCm39) missense probably benign
R9154:Cyp3a13 UTSW 5 137,919,758 (GRCm39) missense probably benign 0.00
R9765:Cyp3a13 UTSW 5 137,909,883 (GRCm39) missense probably damaging 0.98
RF007:Cyp3a13 UTSW 5 137,892,525 (GRCm39) makesense probably null
RF020:Cyp3a13 UTSW 5 137,892,525 (GRCm39) makesense probably null
X0024:Cyp3a13 UTSW 5 137,898,653 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTTTTCCTGCAAACCAATACC -3'
(R):5'- AATGGCTGAGCGACAAGTTG -3'

Sequencing Primer
(F):5'- TACCCCAGTTTAAAAAGCAAAACTC -3'
(R):5'- TTTCACAACCAGTCCAGGAGTAGTAG -3'
Posted On 2018-11-28