Incidental Mutation 'IGL02680:Steap2'
ID 303329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Steap2
Ensembl Gene ENSMUSG00000015653
Gene Name six transmembrane epithelial antigen of prostate 2
Synonyms 4921538B17Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL02680
Quality Score
Status
Chromosome 5
Chromosomal Location 5714829-5744578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5723474 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 469 (F469I)
Ref Sequence ENSEMBL: ENSMUSP00000132501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000015797] [ENSMUST00000115424] [ENSMUST00000115425] [ENSMUST00000115426] [ENSMUST00000115427] [ENSMUST00000148333] [ENSMUST00000164219]
AlphaFold Q8BWB6
Predicted Effect probably benign
Transcript: ENSMUST00000015797
AA Change: F469I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000015797
Gene: ENSMUSG00000015653
AA Change: F469I

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 8.9e-19 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 405 2.8e-16 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115424
AA Change: F469I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000111084
Gene: ENSMUSG00000015653
AA Change: F469I

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115425
AA Change: F469I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000111085
Gene: ENSMUSG00000015653
AA Change: F469I

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115426
AA Change: F469I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000111086
Gene: ENSMUSG00000015653
AA Change: F469I

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000115427
SMART Domains Protein: ENSMUSP00000111087
Gene: ENSMUSG00000015653

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 2.3e-17 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 401 1.8e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000148333
SMART Domains Protein: ENSMUSP00000116910
Gene: ENSMUSG00000015653

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 8.3e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 2.7e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164219
AA Change: F469I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000132501
Gene: ENSMUSG00000015653
AA Change: F469I

DomainStartEndE-ValueType
Pfam:F420_oxidored 31 118 4e-18 PFAM
transmembrane domain 209 231 N/A INTRINSIC
Pfam:Ferric_reduct 258 406 1.5e-22 PFAM
transmembrane domain 431 453 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149412
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150238
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the STEAP family and encodes a multi-pass membrane protein that localizes to the Golgi complex, the plasma membrane, and the vesicular tubular structures in the cytosol. A highly similar protein in mouse has both ferrireductase and cupric reductase activity, and stimulates the cellular uptake of both iron and copper in vitro. Increased transcriptional expression of the human gene is associated with prostate cancer progression. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921524L21Rik T A 18: 6,635,949 (GRCm39) probably benign Het
Aldh1a3 C A 7: 66,055,895 (GRCm39) V299F probably damaging Het
Ankar A G 1: 72,709,275 (GRCm39) Y747H probably damaging Het
Armc9 T C 1: 86,180,000 (GRCm39) I107T probably damaging Het
Atmin A T 8: 117,684,236 (GRCm39) D632V probably damaging Het
Atp5pd C A 11: 115,306,840 (GRCm39) probably null Het
Cadps2 T C 6: 23,838,895 (GRCm39) E81G probably damaging Het
Cep162 A G 9: 87,128,797 (GRCm39) V67A possibly damaging Het
Cfap100 C T 6: 90,389,217 (GRCm39) V335I probably benign Het
Dmtf1 A T 5: 9,180,381 (GRCm39) D181E probably benign Het
Efcab14 T A 4: 115,597,615 (GRCm39) I70N probably damaging Het
Frzb T C 2: 80,254,970 (GRCm39) T189A possibly damaging Het
Fstl3 G A 10: 79,614,506 (GRCm39) W69* probably null Het
Gjb3 C T 4: 127,219,815 (GRCm39) C239Y probably damaging Het
Ifna1 A G 4: 88,768,523 (GRCm39) D67G probably benign Het
Inpp5d A G 1: 87,629,205 (GRCm39) T397A possibly damaging Het
Myh11 G T 16: 14,027,384 (GRCm39) H1283Q probably benign Het
Naip6 A G 13: 100,420,256 (GRCm39) V1338A probably benign Het
Obscn A G 11: 58,890,846 (GRCm39) S7229P unknown Het
Or1l4b A T 2: 37,036,427 (GRCm39) I68F probably damaging Het
Pfkp G A 13: 6,650,708 (GRCm39) probably benign Het
Pop1 T A 15: 34,502,619 (GRCm39) I102K probably damaging Het
Ppp1r21 A G 17: 88,891,290 (GRCm39) M732V probably benign Het
Rsc1a1 A G 4: 141,412,408 (GRCm39) V168A probably benign Het
Scd2 G A 19: 44,289,685 (GRCm39) V227I probably benign Het
Scn10a T A 9: 119,495,125 (GRCm39) Y372F probably damaging Het
Slc35c2 G T 2: 165,124,055 (GRCm39) T94K probably damaging Het
Slc41a2 A G 10: 83,119,728 (GRCm39) Y345H probably benign Het
Slc5a11 T C 7: 122,864,854 (GRCm39) S387P probably damaging Het
Smg7 T A 1: 152,721,145 (GRCm39) N727I probably benign Het
Tex2 T A 11: 106,459,058 (GRCm39) probably benign Het
Tmem79 A G 3: 88,240,270 (GRCm39) L226P probably damaging Het
Tnfrsf14 G T 4: 155,008,927 (GRCm39) C165* probably null Het
Trim21 A G 7: 102,208,870 (GRCm39) V283A probably benign Het
Vmn2r16 A T 5: 109,487,948 (GRCm39) M274L probably benign Het
Other mutations in Steap2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02052:Steap2 APN 5 5,723,586 (GRCm39) missense probably damaging 0.99
IGL02272:Steap2 APN 5 5,727,612 (GRCm39) missense probably benign 0.10
R0267:Steap2 UTSW 5 5,723,561 (GRCm39) missense probably benign 0.00
R1670:Steap2 UTSW 5 5,727,393 (GRCm39) missense possibly damaging 0.80
R2175:Steap2 UTSW 5 5,723,501 (GRCm39) missense probably damaging 1.00
R2188:Steap2 UTSW 5 5,723,643 (GRCm39) nonsense probably null
R2374:Steap2 UTSW 5 5,725,845 (GRCm39) missense probably damaging 0.99
R4902:Steap2 UTSW 5 5,725,866 (GRCm39) missense possibly damaging 0.91
R4941:Steap2 UTSW 5 5,727,651 (GRCm39) missense probably damaging 1.00
R5012:Steap2 UTSW 5 5,727,784 (GRCm39) missense possibly damaging 0.48
R5555:Steap2 UTSW 5 5,727,544 (GRCm39) missense possibly damaging 0.89
R5571:Steap2 UTSW 5 5,725,912 (GRCm39) missense probably damaging 1.00
R5666:Steap2 UTSW 5 5,723,681 (GRCm39) missense probably benign 0.00
R5670:Steap2 UTSW 5 5,723,681 (GRCm39) missense probably benign 0.00
R5677:Steap2 UTSW 5 5,727,497 (GRCm39) nonsense probably null
R6101:Steap2 UTSW 5 5,725,891 (GRCm39) missense possibly damaging 0.71
R6105:Steap2 UTSW 5 5,725,891 (GRCm39) missense possibly damaging 0.71
R6190:Steap2 UTSW 5 5,725,881 (GRCm39) missense probably damaging 1.00
R7172:Steap2 UTSW 5 5,732,896 (GRCm39) missense possibly damaging 0.52
R7576:Steap2 UTSW 5 5,727,406 (GRCm39) missense probably benign 0.01
R7706:Steap2 UTSW 5 5,732,967 (GRCm39) missense possibly damaging 0.95
R8747:Steap2 UTSW 5 5,723,539 (GRCm39) missense probably benign 0.36
R9020:Steap2 UTSW 5 5,723,480 (GRCm39) missense probably benign 0.00
R9040:Steap2 UTSW 5 5,732,722 (GRCm39) missense probably benign
R9113:Steap2 UTSW 5 5,727,475 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16