Incidental Mutation 'R7452:Steap3'
ID 577771
Institutional Source Beutler Lab
Gene Symbol Steap3
Ensembl Gene ENSMUSG00000026389
Gene Name STEAP family member 3
Synonyms 1010001D01Rik, pHyde
MMRRC Submission 045526-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7452 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 120154137-120198810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 120155585 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 458 (E458G)
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: E420G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: E420G

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: E420G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: E420G

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: E420G

PolyPhen 2 Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: E420G

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 possibly damaging
Transcript: ENSMUST00000112643
AA Change: E458G

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: E458G

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 0.0635 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 98.8%
Validation Efficiency 100% (75/75)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A2m C A 6: 121,618,291 (GRCm39) Q195K probably damaging Het
Abcg4 C T 9: 44,190,897 (GRCm39) G249R probably damaging Het
Actn1 T C 12: 80,230,376 (GRCm39) T293A probably benign Het
Adamts5 T A 16: 85,674,869 (GRCm39) T432S probably benign Het
Adh5 A G 3: 138,160,506 (GRCm39) T347A probably benign Het
Agbl5 A G 5: 31,050,735 (GRCm39) D432G probably damaging Het
Ank3 A G 10: 69,734,881 (GRCm39) T797A possibly damaging Het
Aoc1 T G 6: 48,885,724 (GRCm39) V743G probably benign Het
Arap2 A T 5: 62,833,892 (GRCm39) S858R probably benign Het
Arid1a A C 4: 133,480,438 (GRCm39) V162G possibly damaging Het
Armc9 A G 1: 86,140,814 (GRCm39) D588G possibly damaging Het
Art3 A G 5: 92,540,539 (GRCm39) Y94C probably damaging Het
Btaf1 T A 19: 36,946,527 (GRCm39) D444E probably damaging Het
Cav2 A G 6: 17,282,075 (GRCm39) H111R probably damaging Het
Ccdc148 A G 2: 58,717,596 (GRCm39) L469P probably damaging Het
Celsr2 T A 3: 108,320,406 (GRCm39) E802V possibly damaging Het
Cfap57 T C 4: 118,452,981 (GRCm39) D574G probably damaging Het
Chd7 A C 4: 8,854,731 (GRCm39) D2024A probably benign Het
Corin T A 5: 72,592,590 (GRCm39) D269V possibly damaging Het
Cyp4a12a A T 4: 115,184,795 (GRCm39) I359F probably damaging Het
Defb6 T C 8: 19,275,540 (GRCm39) L7P probably damaging Het
Dnah7c A T 1: 46,686,196 (GRCm39) M1817L possibly damaging Het
Dock3 A G 9: 106,866,664 (GRCm39) F682S probably damaging Het
Enpep T A 3: 129,065,052 (GRCm39) Y879F possibly damaging Het
Enpp2 T C 15: 54,730,132 (GRCm39) N462S probably damaging Het
Ephb3 T C 16: 21,036,107 (GRCm39) probably null Het
F7 C T 8: 13,085,215 (GRCm39) H414Y probably benign Het
Fbn1 T C 2: 125,347,375 (GRCm39) H50R possibly damaging Het
Fig4 T C 10: 41,116,633 (GRCm39) D586G possibly damaging Het
Fryl A G 5: 73,181,331 (GRCm39) L2825P probably damaging Het
Gal3st2 T A 1: 93,800,240 (GRCm39) H30Q possibly damaging Het
Garre1 A G 7: 33,945,096 (GRCm39) S595P probably benign Het
Gm12886 G A 4: 121,274,671 (GRCm39) Q70* probably null Het
Gm8104 A C 14: 42,967,501 (GRCm39) T190P probably benign Het
Hps3 A T 3: 20,065,592 (GRCm39) N749K probably damaging Het
Hr A G 14: 70,808,926 (GRCm39) T1101A probably damaging Het
Htatip2 T A 7: 49,423,074 (GRCm39) S210T probably benign Het
Ift80 T C 3: 68,901,615 (GRCm39) probably null Het
Iqgap1 A G 7: 80,410,577 (GRCm39) V212A possibly damaging Het
Itih5 A G 2: 10,243,607 (GRCm39) E448G probably damaging Het
Kdm5b T C 1: 134,552,686 (GRCm39) C1221R probably damaging Het
Lrrc72 T C 12: 36,262,692 (GRCm39) Y52C probably benign Het
Map1b C T 13: 99,644,648 (GRCm39) R85Q probably damaging Het
Mdn1 T C 4: 32,739,030 (GRCm39) I3617T possibly damaging Het
Mtpap T A 18: 4,379,705 (GRCm39) H98Q possibly damaging Het
Nemf A T 12: 69,384,733 (GRCm39) probably null Het
Neto1 A T 18: 86,517,056 (GRCm39) I458L probably benign Het
Nfam1 T A 15: 82,899,163 (GRCm39) M128L probably benign Het
Or2y13 C A 11: 49,415,208 (GRCm39) H219Q probably benign Het
Or4g16 A G 2: 111,137,266 (GRCm39) T239A probably damaging Het
Or5p75-ps1 C T 7: 108,107,800 (GRCm39) T179I unknown Het
Or8b50 A T 9: 38,518,384 (GRCm39) I208F probably benign Het
P2ry14 C T 3: 59,023,466 (GRCm39) G7D probably benign Het
Pde11a A G 2: 75,966,758 (GRCm39) Y564H probably damaging Het
Pex5l C T 3: 33,058,467 (GRCm39) V262I probably benign Het
Poli A G 18: 70,642,049 (GRCm39) V717A possibly damaging Het
Prdm14 A T 1: 13,195,783 (GRCm39) W93R probably damaging Het
Rbm46 T C 3: 82,771,428 (GRCm39) M396V probably benign Het
Rcor2 T C 19: 7,248,587 (GRCm39) V212A probably benign Het
Rcor3 C A 1: 191,822,173 (GRCm39) G8V probably damaging Het
Rhox4d G A X: 36,700,645 (GRCm39) G191E unknown Het
Rictor C T 15: 6,801,635 (GRCm39) S441L probably benign Het
Skp2 T A 15: 9,113,920 (GRCm39) Q366L probably damaging Het
Slc13a3 A T 2: 165,269,034 (GRCm39) S312T probably benign Het
Sstr1 T C 12: 58,260,142 (GRCm39) L255P probably damaging Het
Sv2b T A 7: 74,797,461 (GRCm39) D311V probably damaging Het
Tmem132b A G 5: 125,715,332 (GRCm39) D347G probably benign Het
Tmem161a A G 8: 70,630,138 (GRCm39) D108G probably damaging Het
Traf5 T A 1: 191,731,792 (GRCm39) I47F Het
Trp53bp2 C T 1: 182,274,133 (GRCm39) Q95* probably null Het
Ttn G T 2: 76,707,487 (GRCm39) probably null Het
Usf3 T C 16: 44,040,397 (GRCm39) S1626P probably benign Het
Usp3 T C 9: 66,474,180 (GRCm39) R33G probably benign Het
Zbtb20 G T 16: 43,431,039 (GRCm39) A517S probably 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
R4574:Steap3 UTSW 1 120,169,186 (GRCm39) missense probably benign 0.00
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
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'- GCAGCATGAACTTGACAGCC -3'
(R):5'- GGCCCAGATAGTTTAGGAAGC -3'

Sequencing Primer
(F):5'- ATGAACTTGACAGCCCCATCTTTC -3'
(R):5'- AGCCTTATGTGCATGAAGCC -3'
Posted On 2019-10-07