Incidental Mutation 'R0076:Steap3'
ID17338
Institutional Source Beutler Lab
Gene Symbol Steap3
Ensembl Gene ENSMUSG00000026389
Gene NameSTEAP family member 3
SynonymspHyde, 1010001D01Rik
MMRRC Submission 038363-MU
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R0076 (G1)
Quality Score
Status Validated
Chromosome1
Chromosomal Location120190757-120272705 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 120227730 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 500 (R500C)
Ref Sequence ENSEMBL: ENSMUSP00000108262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112639] [ENSMUST00000112640] [ENSMUST00000112641] [ENSMUST00000112643] [ENSMUST00000140490]
Predicted Effect probably damaging
Transcript: ENSMUST00000112639
AA Change: R462C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: R462C

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 5.7e-19 PFAM
Pfam:Ferric_reduct 259 407 1.2e-19 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112640
AA Change: R462C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: R462C

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 5.7e-19 PFAM
Pfam:Ferric_reduct 259 407 1.2e-19 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112641
AA Change: R462C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: R462C

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 5.7e-19 PFAM
Pfam:Ferric_reduct 259 407 1.2e-19 PFAM
transmembrane domain 432 454 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000112643
AA Change: R500C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: R500C

DomainStartEndE-ValueType
Pfam:F420_oxidored 68 155 7.3e-19 PFAM
Pfam:Ferric_reduct 297 445 7.9e-15 PFAM
transmembrane domain 470 492 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000140490
SMART Domains Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 1.6e-18 PFAM
Pfam:Ferric_reduct 259 406 3.6e-20 PFAM
Meta Mutation Damage Score 0.0288 question?
Coding Region Coverage
  • 1x: 89.9%
  • 3x: 87.5%
  • 10x: 81.6%
  • 20x: 72.8%
Validation Efficiency 92% (83/90)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a multipass membrane protein that functions as an iron transporter. The encoded protein can reduce both iron (Fe3+) and copper (Cu2+) cations. This protein may mediate downstream responses to p53, including promoting apoptosis. Deficiency in this gene can cause anemia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous inactivation of this gene results in microcytic anemia, increased erythrocyte cell number, abnormal reticulocyte morphology, anisopoikilocytosis, decreased mean corpuscular hemoglobin, decreased mean corpuscular volume, and thrombocytosis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 T G 7: 120,373,685 probably benign Het
Acpp A G 9: 104,324,218 probably benign Het
Ada T A 2: 163,727,603 probably benign Het
Ankrd17 T A 5: 90,244,406 K1693* probably null Het
Arhgef38 T A 3: 133,160,746 H210L possibly damaging Het
Car10 G A 11: 93,490,597 E129K possibly damaging Het
Cask A G X: 13,678,274 probably benign Het
Cd19 T C 7: 126,410,862 D406G probably damaging Het
Cd93 T C 2: 148,442,136 D430G probably benign Het
Cds1 T C 5: 101,817,840 probably benign Het
Cerkl A T 2: 79,343,289 S259T possibly damaging Het
Cog8 T C 8: 107,054,133 I164M possibly damaging Het
Col4a1 G A 8: 11,218,713 P1009L probably damaging Het
Col9a1 G A 1: 24,237,497 probably null Het
Dcc G A 18: 71,321,046 Q1241* probably null Het
Dock3 A C 9: 106,911,486 probably benign Het
Dus1l A T 11: 120,792,808 probably benign Het
Dvl2 G A 11: 70,008,100 E438K probably damaging Het
Eif3g A G 9: 20,897,753 F85S probably damaging Het
Fam234b A G 6: 135,227,226 M456V probably benign Het
Fbxo47 G A 11: 97,857,655 probably benign Het
Fyb2 A G 4: 104,945,464 T188A possibly damaging Het
Gm11437 T C 11: 84,148,636 T288A possibly damaging Het
Gm5546 T A 3: 104,353,132 noncoding transcript Het
Gmfb C A 14: 46,817,455 A11S probably benign Het
Gpat4 G A 8: 23,190,705 probably benign Het
Ifitm6 T A 7: 141,016,007 R124S possibly damaging Het
Il17rd T A 14: 27,094,854 L172Q probably damaging Het
Il4 A T 11: 53,613,914 L13Q probably damaging Het
Kif2b A G 11: 91,575,909 M516T probably damaging Het
Kmt2a A G 9: 44,830,059 probably benign Het
Maats1 G A 16: 38,302,684 Q661* probably null Het
Mark1-ps1 T A 17: 53,947,877 noncoding transcript Het
Mndal G T 1: 173,874,447 C96* probably null Het
Mroh1 T C 15: 76,451,140 S1365P probably benign Het
Mrpl12 A G 11: 120,485,442 probably benign Het
Mthfsd C A 8: 121,098,739 V270F probably benign Het
Nbas T A 12: 13,324,336 V555D probably damaging Het
Pcdhb16 T C 18: 37,478,359 V124A probably damaging Het
Pla2g10 T A 16: 13,715,518 Y131F possibly damaging Het
Plec T C 15: 76,191,414 probably benign Het
Polr2b T A 5: 77,326,561 V415E possibly damaging Het
Pou6f1 G A 15: 100,587,836 Q106* probably null Het
Ptprd T C 4: 75,947,039 probably benign Het
Rad54b G A 4: 11,609,480 probably benign Het
Rspo1 G A 4: 124,991,397 R22Q probably benign Het
Scn7a A G 2: 66,714,037 V370A probably benign Het
Sec1 A G 7: 45,678,891 V244A probably damaging Het
Serac1 A G 17: 6,064,937 probably benign Het
Slco2b1 A T 7: 99,685,501 Y254* probably null Het
Stk10 A G 11: 32,603,722 T580A probably benign Het
Tpo C T 12: 30,104,023 G228R probably damaging Het
Tpx2 T C 2: 152,893,683 F744L probably damaging Het
Ube3b G T 5: 114,408,217 probably null Het
Vmn2r84 A G 10: 130,394,193 S17P probably damaging Het
Vps13d A T 4: 145,164,694 probably benign Het
Zfp532 T A 18: 65,685,627 S851R probably benign Het
Zfp623 G A 15: 75,947,209 E5K probably benign Het
Other mutations in Steap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Steap3 APN 1 120241574 missense probably benign 0.02
IGL02307:Steap3 APN 1 120241660 nonsense probably null
IGL02413:Steap3 APN 1 120241772 missense probably damaging 0.99
IGL03237:Steap3 APN 1 120243790 missense probably damaging 1.00
R0157:Steap3 UTSW 1 120227649 makesense probably null
R0468:Steap3 UTSW 1 120234300 missense probably damaging 1.00
R0507:Steap3 UTSW 1 120241583 missense possibly damaging 0.78
R0727:Steap3 UTSW 1 120227817 missense possibly damaging 0.91
R0742:Steap3 UTSW 1 120241583 missense possibly damaging 0.78
R1439:Steap3 UTSW 1 120227820 missense probably damaging 1.00
R1728:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1728:Steap3 UTSW 1 120234378 missense probably benign
R1729:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1729:Steap3 UTSW 1 120234378 missense probably benign
R1730:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1730:Steap3 UTSW 1 120234378 missense probably benign
R1739:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1739:Steap3 UTSW 1 120234378 missense probably benign
R1762:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1762:Steap3 UTSW 1 120234378 missense probably benign
R1783:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1783:Steap3 UTSW 1 120234378 missense probably benign
R1785:Steap3 UTSW 1 120227750 missense probably benign 0.00
R1785:Steap3 UTSW 1 120234378 missense probably benign
R1902:Steap3 UTSW 1 120241734 missense probably benign
R3827:Steap3 UTSW 1 120227730 missense probably damaging 1.00
R4574:Steap3 UTSW 1 120241456 missense probably benign 0.00
R4805:Steap3 UTSW 1 120243886 missense probably benign 0.04
R5176:Steap3 UTSW 1 120243767 critical splice donor site probably null
R5285:Steap3 UTSW 1 120241880 missense probably damaging 0.98
R5481:Steap3 UTSW 1 120241724 missense probably benign
R5906:Steap3 UTSW 1 120244001 missense probably damaging 1.00
R6038:Steap3 UTSW 1 120241641 missense probably damaging 1.00
R6038:Steap3 UTSW 1 120241641 missense probably damaging 1.00
R6922:Steap3 UTSW 1 120243894 missense probably damaging 1.00
Posted On2013-01-20