Incidental Mutation 'IGL00596:Steap4'
ID 6503
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Steap4
Ensembl Gene ENSMUSG00000012428
Gene Name STEAP family member 4
Synonyms Tnfaip9, Tiarp
Accession Numbers
Essential gene? Probably non essential (E-score: 0.115) question?
Stock # IGL00596
Quality Score
Chromosome 5
Chromosomal Location 8010472-8032213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 8026979 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 314 (R314H)
Ref Sequence ENSEMBL: ENSMUSP00000111081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115421]
AlphaFold Q923B6
Predicted Effect probably damaging
Transcript: ENSMUST00000115421
AA Change: R314H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: R314H

Pfam:F420_oxidored 21 107 2.3e-16 PFAM
transmembrane domain 203 225 N/A INTRINSIC
Pfam:Ferric_reduct 247 395 2.6e-14 PFAM
transmembrane domain 416 438 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the STEAP (six transmembrane epithelial antigen of prostate) family, and resides in the golgi apparatus. It functions as a metalloreductase that has the ability to reduce both Fe(3+) to Fe(2+) and Cu(2+) to Cu(1+), using NAD(+) as acceptor. Studies in mice and human suggest that this gene maybe involved in adipocyte development and metabolism, and may contribute to the normal biology of the prostate cell, as well as prostate cancer progression. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit adipose accumulation, oxidative stress, increased liver weight, lower metabolic rate, hypoactivity, insulin resistance, glucose intolerance, mild hyperglycemia and dyslipidemia. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2ml1 G T 6: 128,547,030 (GRCm39) N366K probably damaging Het
Adgrl3 G A 5: 81,794,314 (GRCm39) R445Q probably benign Het
Cc2d1b T C 4: 108,484,503 (GRCm39) I446T probably damaging Het
Cdhr2 A T 13: 54,868,810 (GRCm39) N591Y probably damaging Het
Cntnap5b A G 1: 100,306,886 (GRCm39) R868G possibly damaging Het
Dkk2 A T 3: 131,879,564 (GRCm39) D81V probably damaging Het
Dsg1c T A 18: 20,414,899 (GRCm39) probably benign Het
Dym T A 18: 75,252,320 (GRCm39) V362D probably benign Het
Epm2a A T 10: 11,324,384 (GRCm39) probably null Het
Grid2 G T 6: 64,510,688 (GRCm39) A773S possibly damaging Het
Iars2 A G 1: 185,048,151 (GRCm39) V527A probably benign Het
Kcnj16 T C 11: 110,915,349 (GRCm39) Y4H probably damaging Het
Krt6a T A 15: 101,602,665 (GRCm39) I7F possibly damaging Het
Myo6 T G 9: 80,189,025 (GRCm39) F757V possibly damaging Het
Nbeal1 T C 1: 60,220,900 (GRCm39) L13P probably damaging Het
Nr2c2 A T 6: 92,126,700 (GRCm39) K63M probably damaging Het
Pcdh15 G A 10: 74,466,576 (GRCm39) G1511D probably benign Het
Pomgnt2 A T 9: 121,812,191 (GRCm39) W197R probably benign Het
Rint1 G A 5: 24,016,863 (GRCm39) V543M probably damaging Het
Rnd2 G A 11: 101,362,017 (GRCm39) R190H possibly damaging Het
Sh3rf3 A G 10: 58,885,178 (GRCm39) S354G probably benign Het
Slc10a2 T C 8: 5,141,680 (GRCm39) I235V probably benign Het
Ticrr A C 7: 79,327,041 (GRCm39) N583T probably damaging Het
Tmem25 T A 9: 44,706,816 (GRCm39) probably benign Het
Vps8 C T 16: 21,267,162 (GRCm39) probably benign Het
Xirp2 A G 2: 67,345,226 (GRCm39) K2489R probably benign Het
Xlr4b T A X: 72,263,577 (GRCm39) probably benign Het
Other mutations in Steap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00827:Steap4 APN 5 8,026,712 (GRCm39) missense probably damaging 1.00
IGL01481:Steap4 APN 5 8,026,858 (GRCm39) missense probably damaging 0.98
IGL02378:Steap4 APN 5 8,026,741 (GRCm39) missense probably benign 0.00
IGL03058:Steap4 APN 5 8,025,664 (GRCm39) missense probably benign 0.00
PIT4362001:Steap4 UTSW 5 8,030,337 (GRCm39) missense probably benign 0.03
R0329:Steap4 UTSW 5 8,025,829 (GRCm39) missense possibly damaging 0.92
R0546:Steap4 UTSW 5 8,025,870 (GRCm39) missense probably damaging 0.99
R0637:Steap4 UTSW 5 8,028,398 (GRCm39) splice site probably benign
R0638:Steap4 UTSW 5 8,027,030 (GRCm39) splice site probably benign
R0651:Steap4 UTSW 5 8,030,348 (GRCm39) nonsense probably null
R0881:Steap4 UTSW 5 8,030,388 (GRCm39) missense probably benign
R1167:Steap4 UTSW 5 8,026,520 (GRCm39) missense probably benign 0.34
R1543:Steap4 UTSW 5 8,025,902 (GRCm39) splice site probably benign
R1889:Steap4 UTSW 5 8,025,892 (GRCm39) missense probably damaging 1.00
R3803:Steap4 UTSW 5 8,026,979 (GRCm39) missense probably damaging 1.00
R3811:Steap4 UTSW 5 8,027,017 (GRCm39) missense probably benign 0.18
R3885:Steap4 UTSW 5 8,030,494 (GRCm39) missense probably damaging 1.00
R3887:Steap4 UTSW 5 8,030,494 (GRCm39) missense probably damaging 1.00
R4051:Steap4 UTSW 5 8,030,404 (GRCm39) missense probably damaging 1.00
R4208:Steap4 UTSW 5 8,030,404 (GRCm39) missense probably damaging 1.00
R5016:Steap4 UTSW 5 8,026,699 (GRCm39) nonsense probably null
R5302:Steap4 UTSW 5 8,025,547 (GRCm39) nonsense probably null
R5951:Steap4 UTSW 5 8,025,769 (GRCm39) missense probably benign 0.00
R6136:Steap4 UTSW 5 8,028,562 (GRCm39) missense probably damaging 0.99
R6527:Steap4 UTSW 5 8,028,502 (GRCm39) missense probably damaging 0.99
R6631:Steap4 UTSW 5 8,026,995 (GRCm39) nonsense probably null
R6964:Steap4 UTSW 5 8,025,568 (GRCm39) missense probably damaging 1.00
R7055:Steap4 UTSW 5 8,026,858 (GRCm39) missense probably damaging 1.00
R7408:Steap4 UTSW 5 8,028,453 (GRCm39) missense probably benign 0.07
R7692:Steap4 UTSW 5 8,026,976 (GRCm39) missense probably benign 0.32
R8205:Steap4 UTSW 5 8,026,795 (GRCm39) missense possibly damaging 0.65
R8861:Steap4 UTSW 5 8,025,672 (GRCm39) missense probably benign 0.00
R9287:Steap4 UTSW 5 8,026,683 (GRCm39) missense probably benign 0.05
R9423:Steap4 UTSW 5 8,026,720 (GRCm39) missense probably damaging 0.99
R9504:Steap4 UTSW 5 8,030,538 (GRCm39) missense probably benign 0.00
R9531:Steap4 UTSW 5 8,028,424 (GRCm39) missense probably benign 0.20
R9566:Steap4 UTSW 5 8,025,646 (GRCm39) missense possibly damaging 0.51
Posted On 2012-04-20