Incidental Mutation 'IGL01898:Steap3'
| ID |
179459 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Steap3
|
| Ensembl Gene |
ENSMUSG00000026389 |
| Gene Name |
STEAP family member 3 |
| Synonyms |
1010001D01Rik, pHyde |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01898
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120169304 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 293
(D293G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121046
(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: D293G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: D293G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D293G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: D293G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D293G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: D293G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D331G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: D331G
| Domain | Start | End | E-Value | Type |
|---|
|
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: D293G
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389
AA Change: D293G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:F420_oxidored
|
30 |
117 |
1.6e-18 |
PFAM |
|
Pfam:Ferric_reduct
|
259 |
406 |
3.6e-20 |
PFAM |
|
| 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 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: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl10 |
A |
T |
2: 154,394,633 (GRCm39) |
D195V |
probably damaging |
Het |
| Aqp11 |
A |
G |
7: 97,375,870 (GRCm39) |
W260R |
probably benign |
Het |
| Atp8a2 |
T |
C |
14: 60,260,962 (GRCm39) |
T390A |
probably damaging |
Het |
| Atp8b4 |
T |
C |
2: 126,231,281 (GRCm39) |
N431S |
probably benign |
Het |
| Ccdc110 |
T |
G |
8: 46,395,161 (GRCm39) |
S351A |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,582,939 (GRCm39) |
F1006L |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,825,725 (GRCm39) |
F292L |
possibly damaging |
Het |
| F830104G03Rik |
G |
A |
3: 56,797,637 (GRCm39) |
Q97* |
probably null |
Het |
| Fam171a2 |
T |
C |
11: 102,330,582 (GRCm39) |
T267A |
possibly damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Igkv5-43 |
T |
A |
6: 69,752,876 (GRCm39) |
K69* |
probably null |
Het |
| Mios |
T |
C |
6: 8,222,668 (GRCm39) |
I534T |
probably benign |
Het |
| Nus1 |
A |
G |
10: 52,306,163 (GRCm39) |
D185G |
probably benign |
Het |
| Proc |
A |
G |
18: 32,266,198 (GRCm39) |
|
probably null |
Het |
| Psma3 |
T |
A |
12: 71,031,448 (GRCm39) |
H36Q |
probably benign |
Het |
| Sh3rf3 |
G |
T |
10: 58,885,352 (GRCm39) |
A412S |
probably damaging |
Het |
| Smgc |
A |
T |
15: 91,728,727 (GRCm39) |
|
probably null |
Het |
| Sp140l2 |
A |
G |
1: 85,231,907 (GRCm39) |
|
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,041,428 (GRCm39) |
S1297R |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,589,912 (GRCm39) |
M342K |
possibly damaging |
Het |
| Trip11 |
T |
C |
12: 101,851,935 (GRCm39) |
M425V |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Steap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation