Incidental Mutation 'R4805:Steap3'
ID 370596
Institutional Source Beutler Lab
Gene Symbol Steap3
Ensembl Gene ENSMUSG00000026389
Gene Name STEAP family member 3
Synonyms 1010001D01Rik, pHyde
MMRRC Submission 041999-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4805 (G1)
Quality Score 225
Status Validated
Chromosome 1
Chromosomal Location 120154137-120198810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 120171616 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 163 (H163L)
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: H125L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: H125L

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: H125L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: H125L

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: H125L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: H125L

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: H163L

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: H163L

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: H125L

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389
AA Change: H125L

DomainStartEndE-ValueType
Pfam:F420_oxidored 30 117 1.6e-18 PFAM
Pfam:Ferric_reduct 259 406 3.6e-20 PFAM
Meta Mutation Damage Score 0.1890 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.4%
  • 20x: 92.7%
Validation Efficiency 99% (69/70)
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik T A 15: 81,950,628 (GRCm39) Y1508* probably null Het
4931414P19Rik T C 14: 54,832,911 (GRCm39) E88G probably benign Het
Acaa1b A G 9: 118,986,014 (GRCm39) S17P probably benign Het
Arhgef7 G A 8: 11,881,552 (GRCm39) E565K probably damaging Het
Arl6ip1 AAAATAAATAAATAAATAAATAAATA AAAATAAATAAATAAATAAATAAATAAATA 7: 117,721,122 (GRCm39) probably benign Het
Bpnt1 T A 1: 185,077,504 (GRCm39) probably null Het
Ccnt1 C T 15: 98,442,189 (GRCm39) V360I probably benign Het
Chd4 T C 6: 125,105,908 (GRCm39) S1829P possibly damaging Het
Dennd1b A T 1: 138,981,122 (GRCm39) N112I probably damaging Het
Fat2 A T 11: 55,174,805 (GRCm39) D1969E probably benign Het
Flywch1 A C 17: 23,979,591 (GRCm39) D394E probably benign Het
Gal3st4 T A 5: 138,263,733 (GRCm39) probably null Het
Gm14403 T C 2: 177,200,492 (GRCm39) L146P probably damaging Het
Gm5283 G T 3: 17,285,123 (GRCm39) noncoding transcript Het
Gpr161 T A 1: 165,134,029 (GRCm39) L97Q probably damaging Het
Gstm2 A T 3: 107,892,411 (GRCm39) M105K possibly damaging Het
Hecw2 A G 1: 53,880,018 (GRCm39) Y1264H probably damaging Het
Ifi206 T A 1: 173,308,952 (GRCm39) Q348L possibly damaging Het
Ighv1-83 A T 12: 115,927,489 (GRCm39) M87K possibly damaging Het
Ighv2-7 A T 12: 113,771,154 (GRCm39) S44T probably damaging Het
Ipo7 T A 7: 109,650,691 (GRCm39) N884K probably benign Het
Itga2b T C 11: 102,358,692 (GRCm39) N75S probably benign Het
Krt20 A G 11: 99,319,811 (GRCm39) V431A unknown Het
Krt24 A T 11: 99,174,452 (GRCm39) I205N possibly damaging Het
Lmo2 T C 2: 103,811,407 (GRCm39) Y147H probably damaging Het
Lrrc31 A T 3: 30,745,446 (GRCm39) L67* probably null Het
Lrrc37a A G 11: 103,395,135 (GRCm39) F97L probably benign Het
Mapkap1 G A 2: 34,487,434 (GRCm39) probably null Het
Mgat4d T G 8: 84,084,787 (GRCm39) probably null Het
Mrgprb3 C T 7: 48,293,054 (GRCm39) V166I probably benign Het
Myh11 T A 16: 14,052,329 (GRCm39) Q379L possibly damaging Het
Myh7 T C 14: 55,222,590 (GRCm39) S782G probably benign Het
Nobox T C 6: 43,282,053 (GRCm39) D340G probably damaging Het
Ntn4 C T 10: 93,480,362 (GRCm39) R29C probably damaging Het
Or2t29 G A 11: 58,433,396 (GRCm39) T315I probably benign Het
Or5b101 T A 19: 13,005,661 (GRCm39) I11F probably benign Het
Pikfyve T A 1: 65,307,959 (GRCm39) I1845N probably damaging Het
Pramel15 A G 4: 144,103,590 (GRCm39) Y179H probably benign Het
Rad21l T G 2: 151,509,927 (GRCm39) H58P probably damaging Het
Scnn1g T C 7: 121,345,825 (GRCm39) L316S probably damaging Het
Serpina5 G A 12: 104,068,460 (GRCm39) V174I probably damaging Het
Shank1 T C 7: 43,993,135 (GRCm39) S788P unknown Het
Shisal1 T A 15: 84,301,397 (GRCm39) H82L probably damaging Het
Snap47 A G 11: 59,319,343 (GRCm39) V265A possibly damaging Het
Sycp2 T C 2: 178,035,754 (GRCm39) probably benign Het
Tet2 A G 3: 133,173,076 (GRCm39) F1729L probably benign Het
Thsd7b T C 1: 130,116,276 (GRCm39) V1343A probably benign Het
Thumpd2 G A 17: 81,334,130 (GRCm39) T486I probably damaging Het
Ttc41 G T 10: 86,565,662 (GRCm39) M405I possibly damaging Het
Ttn T C 2: 76,577,873 (GRCm39) D24340G probably damaging Het
Vmn1r10 T G 6: 57,090,602 (GRCm39) F65V possibly damaging Het
Vmn2r118 G T 17: 55,899,581 (GRCm39) D774E probably damaging Het
Vmn2r13 C T 5: 109,304,331 (GRCm39) C700Y probably damaging Het
Wsb1 A C 11: 79,131,217 (GRCm39) M393R possibly damaging Het
Zmat3 A G 3: 32,397,504 (GRCm39) Y214H probably benign Het
Zswim3 C T 2: 164,662,099 (GRCm39) T193I 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
R4574:Steap3 UTSW 1 120,169,186 (GRCm39) missense probably benign 0.00
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'- CTCCCTGCTGTGTAAGATGAG -3'
(R):5'- TGGACAGTGATGGCAGTCTG -3'

Sequencing Primer
(F):5'- ATGAGATTTTTATAGTGGCATGCAG -3'
(R):5'- AAAGTGGGCATCCTGGGC -3'
Posted On 2016-02-04