Incidental Mutation 'IGL01481:Steap4'
ID 88610
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 # IGL01481
Quality Score
Status
Chromosome 5
Chromosomal Location 8010472-8032213 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 8026858 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 274 (T274S)
Ref Sequence ENSEMBL: ENSMUSP00000111081 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115421]
AlphaFold Q923B6
Predicted Effect probably damaging
Transcript: ENSMUST00000115421
AA Change: T274S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000111081
Gene: ENSMUSG00000012428
AA Change: T274S

DomainStartEndE-ValueType
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik A T 6: 91,910,079 (GRCm39) S523C probably damaging Het
Apaf1 A T 10: 90,867,450 (GRCm39) D798E possibly damaging Het
Arhgef7 G T 8: 11,865,256 (GRCm39) V410L probably benign Het
Capn7 T C 14: 31,077,296 (GRCm39) L338P probably damaging Het
Cldn17 A G 16: 88,303,471 (GRCm39) V86A probably benign Het
Clec4a2 A G 6: 123,119,459 (GRCm39) N237S probably benign Het
Cmtr1 T G 17: 29,917,631 (GRCm39) I654S probably benign Het
Cryzl2 G A 1: 157,298,309 (GRCm39) probably null Het
Ctif A G 18: 75,744,855 (GRCm39) probably benign Het
Dcaf7 T A 11: 105,945,572 (GRCm39) I307N probably damaging Het
Drosha A T 15: 12,842,525 (GRCm39) T399S probably benign Het
Eef2k A T 7: 120,494,441 (GRCm39) Y35F probably benign Het
Emc1 T C 4: 139,089,410 (GRCm39) S193P probably benign Het
Fpr2 T C 17: 18,113,025 (GRCm39) I7T probably benign Het
Fras1 C A 5: 96,805,100 (GRCm39) N1247K probably damaging Het
Gipr T C 7: 18,893,431 (GRCm39) probably benign Het
Heatr5a C T 12: 52,002,208 (GRCm39) G243S probably damaging Het
Hivep2 G A 10: 14,024,981 (GRCm39) R2265Q probably benign Het
Iars1 T C 13: 49,882,174 (GRCm39) S1073P probably benign Het
Inpp4b T C 8: 82,724,009 (GRCm39) S514P probably damaging Het
Inpp5b T A 4: 124,694,492 (GRCm39) probably null Het
Itga2 C T 13: 114,996,168 (GRCm39) V708I possibly damaging Het
Itih5 A C 2: 10,195,100 (GRCm39) Q164P probably damaging Het
Map3k19 T A 1: 127,750,215 (GRCm39) E1045D probably damaging Het
Mbd5 T C 2: 49,168,951 (GRCm39) V1374A possibly damaging Het
Mrps34 T C 17: 25,116,310 (GRCm39) probably benign Het
Nadsyn1 T C 7: 143,366,321 (GRCm39) D191G probably damaging Het
Nlrc3 T G 16: 3,781,769 (GRCm39) N563H probably damaging Het
Nlrp4c T C 7: 6,103,783 (GRCm39) C906R possibly damaging Het
Or10g6 T C 9: 39,934,574 (GRCm39) M295T possibly damaging Het
Or1j15 T A 2: 36,458,754 (GRCm39) L48H probably damaging Het
Or4a79 A G 2: 89,551,870 (GRCm39) L195P probably damaging Het
Or52u1 C A 7: 104,237,067 (GRCm39) P36T probably damaging Het
Pdgfd C A 9: 6,337,271 (GRCm39) T195K probably null Het
Ptprz1 C A 6: 22,999,979 (GRCm39) Q690K probably benign Het
Scfd1 T A 12: 51,430,903 (GRCm39) M23K probably damaging Het
Scn10a G A 9: 119,438,260 (GRCm39) R1869C probably damaging Het
Scp2 T C 4: 107,931,639 (GRCm39) probably null Het
Sec61a1 A G 6: 88,483,829 (GRCm39) V354A probably benign Het
Sgpp1 T C 12: 75,769,431 (GRCm39) I246V probably benign Het
Slco2a1 G T 9: 102,947,450 (GRCm39) D250Y probably damaging Het
Slit2 A G 5: 48,460,273 (GRCm39) N1435D probably benign Het
Sspo A G 6: 48,425,449 (GRCm39) I23M probably benign Het
Tbc1d22b T C 17: 29,787,572 (GRCm39) L107P possibly damaging Het
Tiparp G T 3: 65,460,030 (GRCm39) G442* probably null Het
Tmem45a2 T A 16: 56,867,375 (GRCm39) I109F probably benign Het
Top2a A T 11: 98,901,856 (GRCm39) L458Q probably damaging Het
Tox T A 4: 6,842,396 (GRCm39) T45S probably damaging Het
Vmn2r4 A T 3: 64,313,816 (GRCm39) N388K probably damaging Het
Wdr7 G A 18: 63,872,250 (GRCm39) D395N probably damaging Het
Other mutations in Steap4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00596:Steap4 APN 5 8,026,979 (GRCm39) missense probably damaging 1.00
IGL00827:Steap4 APN 5 8,026,712 (GRCm39) missense probably damaging 1.00
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 2013-11-18