Incidental Mutation 'R4574:Steap3'
ID 342312
Institutional Source Beutler Lab
Gene Symbol Steap3
Ensembl Gene ENSMUSG00000026389
Gene Name STEAP family member 3
Synonyms 1010001D01Rik, pHyde
MMRRC Submission 041797-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4574 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120154137-120198810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 120169186 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 370 (D370E)
Ref Sequence ENSEMBL: ENSMUSP00000108262 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000112639] [ENSMUST00000112640] [ENSMUST00000112641] [ENSMUST00000112643] [ENSMUST00000140490]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000112639
AA Change: D332E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: D332E

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 benign
Transcript: ENSMUST00000112640
AA Change: D332E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: D332E

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 benign
Transcript: ENSMUST00000112641
AA Change: D332E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: D332E

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 benign
Transcript: ENSMUST00000112643
AA Change: D370E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: D370E

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
AA Change: D332E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389
AA Change: D332E

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 1.6e-18 PFAM
Pfam:Ferric_reduct 259 406 3.6e-20 PFAM
Meta Mutation Damage Score 0.1102 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 97% (63/65)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam1b A C 5: 121,638,856 (GRCm39) S730A probably benign Het
Adamts9 G A 6: 92,856,940 (GRCm39) R319* probably null Het
Anapc1 G T 2: 128,469,115 (GRCm39) S1575R probably damaging Het
Appbp2 A T 11: 85,100,764 (GRCm39) probably null Het
Bcas2 C T 3: 103,081,666 (GRCm39) P90S probably benign Het
Carmil3 GGACGA GGA 14: 55,736,933 (GRCm39) probably benign Het
Cd101 T C 3: 100,920,469 (GRCm39) N477D probably benign Het
Cdk12 A G 11: 98,111,814 (GRCm39) probably benign Het
Clcn4 T C 7: 7,290,804 (GRCm39) E634G probably benign Het
Cltb C T 13: 54,746,574 (GRCm39) R64H probably damaging Het
Cpt1b G T 15: 89,308,247 (GRCm39) probably null Het
Ctf2 T G 7: 127,318,556 (GRCm39) T148P possibly damaging Het
Ddx23 G A 15: 98,545,505 (GRCm39) T601I probably damaging Het
Dlx6 G T 6: 6,865,305 (GRCm39) probably benign Het
Dmrtb1 A T 4: 107,534,265 (GRCm39) N183K possibly damaging Het
Dnah11 A G 12: 117,975,990 (GRCm39) probably null Het
Dnah5 C T 15: 28,367,909 (GRCm39) P2765S probably benign Het
Dnah6 T A 6: 73,063,164 (GRCm39) N2698I probably damaging Het
Fpr-rs6 T A 17: 20,403,359 (GRCm39) M1L probably damaging Het
Gm4841 T C 18: 60,402,998 (GRCm39) N365S probably benign Het
Gsdmc2 C T 15: 63,699,872 (GRCm39) probably null Het
Irx5 G A 8: 93,084,890 (GRCm39) V27I probably damaging Het
Kmt2e T A 5: 23,697,405 (GRCm39) V101D possibly damaging Het
Maip1 A C 1: 57,452,404 (GRCm39) K219Q possibly damaging Het
Mpp7 G T 18: 7,353,228 (GRCm39) R493S probably benign Het
Ms4a14 T C 19: 11,281,335 (GRCm39) T408A probably benign Het
Mthfr A G 4: 148,127,998 (GRCm39) N117S possibly damaging Het
Mtres1 T A 10: 43,409,006 (GRCm39) S46C probably damaging Het
Myo5c A G 9: 75,176,893 (GRCm39) I613V probably benign Het
Neurl1b A G 17: 26,650,860 (GRCm39) Q44R probably benign Het
Nup54 T A 5: 92,573,641 (GRCm39) N187I probably benign Het
Ofcc1 G A 13: 40,168,864 (GRCm39) T841I probably damaging Het
Or5ak22 C A 2: 85,230,370 (GRCm39) C169F probably damaging Het
Pate2 C A 9: 35,596,969 (GRCm39) probably benign Het
Pccb T C 9: 100,867,252 (GRCm39) S445G probably damaging Het
Pex3 G A 10: 13,411,315 (GRCm39) Q188* probably null Het
Pikfyve T A 1: 65,231,351 (GRCm39) W74R probably damaging Het
Plcl2 T C 17: 50,914,874 (GRCm39) S628P probably damaging Het
Pnldc1 T C 17: 13,111,669 (GRCm39) H346R probably benign Het
Pom121l2 T A 13: 22,168,572 (GRCm39) C948S probably benign Het
Pspc1 A T 14: 56,999,404 (GRCm39) M284K possibly damaging Het
Ralgapa2 A G 2: 146,277,919 (GRCm39) L414S probably damaging Het
Rgs13 T A 1: 144,016,583 (GRCm39) K53N probably damaging Het
Rorc T C 3: 94,296,291 (GRCm39) S163P probably benign Het
Rpl3l A C 17: 24,952,984 (GRCm39) T315P possibly damaging Het
Rsph3b A G 17: 7,172,438 (GRCm39) V487A probably benign Het
Rusc2 A G 4: 43,416,080 (GRCm39) E462G probably damaging Het
Sez6l T C 5: 112,576,344 (GRCm39) T838A probably damaging Het
Slc22a14 A G 9: 119,008,561 (GRCm39) Y236H probably damaging Het
Sspo G A 6: 48,442,457 (GRCm39) R1984H probably damaging Het
Sumf1 A G 6: 108,085,393 (GRCm39) probably benign Het
Telo2 T C 17: 25,320,647 (GRCm39) E754G probably damaging Het
Tjp1 A G 7: 64,972,353 (GRCm39) F604L probably damaging Het
Trpm7 A T 2: 126,639,131 (GRCm39) D1734E probably benign Het
Tsfm A C 10: 126,864,242 (GRCm39) Y158D probably damaging Het
Ubtf T C 11: 102,197,591 (GRCm39) probably benign Het
Upk3a G T 15: 84,904,752 (GRCm39) V167F possibly damaging Het
Vmn2r19 C T 6: 123,292,939 (GRCm39) S327L probably benign Het
Vps13c T A 9: 67,858,965 (GRCm39) I2805N probably damaging Het
Zfp592 A G 7: 80,673,534 (GRCm39) D166G possibly damaging Het
Other mutations in Steap3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01898:Steap3 APN 1 120,169,304 (GRCm39) missense probably benign 0.02
IGL02307:Steap3 APN 1 120,169,390 (GRCm39) nonsense probably null
IGL02413:Steap3 APN 1 120,169,502 (GRCm39) missense probably damaging 0.99
IGL03237:Steap3 APN 1 120,171,520 (GRCm39) missense probably damaging 1.00
R0076:Steap3 UTSW 1 120,155,460 (GRCm39) missense probably damaging 1.00
R0157:Steap3 UTSW 1 120,155,379 (GRCm39) makesense probably null
R0468:Steap3 UTSW 1 120,162,030 (GRCm39) missense probably damaging 1.00
R0507:Steap3 UTSW 1 120,169,313 (GRCm39) missense possibly damaging 0.78
R0727:Steap3 UTSW 1 120,155,547 (GRCm39) missense possibly damaging 0.91
R0742:Steap3 UTSW 1 120,169,313 (GRCm39) missense possibly damaging 0.78
R1439:Steap3 UTSW 1 120,155,550 (GRCm39) missense probably damaging 1.00
R1728:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1728:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1729:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1729:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1730:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1730:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1739:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1739:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1762:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1762:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1783:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1783:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1785:Steap3 UTSW 1 120,155,480 (GRCm39) missense probably benign 0.00
R1785:Steap3 UTSW 1 120,162,108 (GRCm39) missense probably benign
R1902:Steap3 UTSW 1 120,169,464 (GRCm39) missense probably benign
R3827:Steap3 UTSW 1 120,155,460 (GRCm39) missense probably damaging 1.00
R4805:Steap3 UTSW 1 120,171,616 (GRCm39) missense probably benign 0.04
R5176:Steap3 UTSW 1 120,171,497 (GRCm39) critical splice donor site probably null
R5285:Steap3 UTSW 1 120,169,610 (GRCm39) missense probably damaging 0.98
R5481:Steap3 UTSW 1 120,169,454 (GRCm39) missense probably benign
R5906:Steap3 UTSW 1 120,171,731 (GRCm39) missense probably damaging 1.00
R6038:Steap3 UTSW 1 120,169,371 (GRCm39) missense probably damaging 1.00
R6038:Steap3 UTSW 1 120,169,371 (GRCm39) missense probably damaging 1.00
R6922:Steap3 UTSW 1 120,171,624 (GRCm39) missense probably damaging 1.00
R7258:Steap3 UTSW 1 120,171,716 (GRCm39) missense possibly damaging 0.73
R7278:Steap3 UTSW 1 120,162,087 (GRCm39) missense probably damaging 0.97
R7315:Steap3 UTSW 1 120,155,642 (GRCm39) missense probably benign 0.01
R7439:Steap3 UTSW 1 120,169,248 (GRCm39) missense probably benign 0.31
R7440:Steap3 UTSW 1 120,169,248 (GRCm39) missense probably benign 0.31
R7441:Steap3 UTSW 1 120,169,248 (GRCm39) missense probably benign 0.31
R7444:Steap3 UTSW 1 120,169,248 (GRCm39) missense probably benign 0.31
R7452:Steap3 UTSW 1 120,155,585 (GRCm39) missense possibly damaging 0.47
R8331:Steap3 UTSW 1 120,169,218 (GRCm39) missense possibly damaging 0.78
R8732:Steap3 UTSW 1 120,171,624 (GRCm39) missense probably damaging 1.00
R9135:Steap3 UTSW 1 120,162,048 (GRCm39) missense probably benign 0.06
R9332:Steap3 UTSW 1 120,155,564 (GRCm39) missense probably benign 0.12
Z1176:Steap3 UTSW 1 120,169,353 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TATGTACCCACACTTATAGGCAGC -3'
(R):5'- TGCTGTCCCTAGTGTACCTG -3'

Sequencing Primer
(F):5'- CTTATAGGCAGCAACACACAC -3'
(R):5'- TCCCTAGTGTACCTGCCCGG -3'
Posted On 2015-09-24