Incidental Mutation 'IGL02413:Steap3'
| ID |
292349 |
| 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 # |
IGL02413
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 120169502 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 265
(Y265C)
|
| 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 damaging
Transcript: ENSMUST00000112639
AA Change: Y227C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108258
Gene: ENSMUSG00000026389
AA Change: Y227C
| 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 damaging
Transcript: ENSMUST00000112640
AA Change: Y227C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108259
Gene: ENSMUSG00000026389
AA Change: Y227C
| 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 damaging
Transcript: ENSMUST00000112641
AA Change: Y227C
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108260
Gene: ENSMUSG00000026389
AA Change: Y227C
| 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 damaging
Transcript: ENSMUST00000112643
AA Change: Y265C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000108262
Gene: ENSMUSG00000026389
AA Change: Y265C
| 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 |
possibly damaging
Transcript: ENSMUST00000140490
AA Change: Y227C
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121046
Gene: ENSMUSG00000026389
AA Change: Y227C
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
C |
A |
16: 20,241,187 (GRCm39) |
|
probably benign |
Het |
| Afap1l1 |
A |
G |
18: 61,866,860 (GRCm39) |
L733P |
probably benign |
Het |
| Aqr |
G |
A |
2: 113,949,261 (GRCm39) |
A979V |
possibly damaging |
Het |
| Axin1 |
A |
G |
17: 26,407,153 (GRCm39) |
E582G |
probably benign |
Het |
| Catsper1 |
T |
C |
19: 5,386,264 (GRCm39) |
S166P |
possibly damaging |
Het |
| Cd248 |
G |
T |
19: 5,120,201 (GRCm39) |
G683V |
probably damaging |
Het |
| Celsr1 |
G |
T |
15: 85,915,427 (GRCm39) |
Q849K |
possibly damaging |
Het |
| Ctnnal1 |
C |
A |
4: 56,835,306 (GRCm39) |
V324F |
probably benign |
Het |
| Ctrc |
C |
A |
4: 141,571,028 (GRCm39) |
V71L |
possibly damaging |
Het |
| Exoc3l |
C |
A |
8: 106,019,070 (GRCm39) |
D465Y |
probably damaging |
Het |
| Flna |
T |
C |
X: 73,284,888 (GRCm39) |
E417G |
probably benign |
Het |
| Grm6 |
T |
A |
11: 50,750,766 (GRCm39) |
V643D |
probably damaging |
Het |
| Inpp4b |
A |
G |
8: 82,759,800 (GRCm39) |
Y615C |
probably benign |
Het |
| Itga3 |
T |
C |
11: 94,959,597 (GRCm39) |
Y92C |
probably damaging |
Het |
| Jak3 |
T |
C |
8: 72,138,763 (GRCm39) |
|
probably null |
Het |
| Kcnh6 |
T |
A |
11: 105,918,460 (GRCm39) |
I823N |
possibly damaging |
Het |
| Klhl38 |
A |
T |
15: 58,186,417 (GRCm39) |
V104D |
probably damaging |
Het |
| Lpo |
C |
T |
11: 87,697,732 (GRCm39) |
V692M |
possibly damaging |
Het |
| Mnd1 |
T |
C |
3: 84,023,786 (GRCm39) |
H100R |
probably benign |
Het |
| Mterf4 |
A |
G |
1: 93,230,526 (GRCm39) |
F207L |
probably damaging |
Het |
| Oog3 |
C |
A |
4: 143,884,721 (GRCm39) |
W405L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,384 (GRCm39) |
L100P |
probably damaging |
Het |
| Ptpn3 |
A |
G |
4: 57,205,020 (GRCm39) |
Y714H |
probably damaging |
Het |
| Spata31f3 |
T |
C |
4: 42,868,549 (GRCm39) |
D358G |
probably damaging |
Het |
| Tcl1 |
C |
A |
12: 105,185,082 (GRCm39) |
E43* |
probably null |
Het |
| Terb1 |
A |
G |
8: 105,221,500 (GRCm39) |
|
probably null |
Het |
| Tmprss11a |
T |
A |
5: 86,570,507 (GRCm39) |
I151F |
possibly damaging |
Het |
| Trappc10 |
T |
C |
10: 78,046,610 (GRCm39) |
R430G |
probably damaging |
Het |
| Usp17le |
T |
C |
7: 104,418,933 (GRCm39) |
N70D |
probably benign |
Het |
| Vmn1r45 |
T |
C |
6: 89,910,503 (GRCm39) |
S36G |
possibly damaging |
Het |
| Vsig8 |
A |
C |
1: 172,387,943 (GRCm39) |
Y11S |
probably damaging |
Het |
| Vwa5b2 |
T |
A |
16: 20,416,851 (GRCm39) |
L516Q |
probably damaging |
Het |
|
| Other mutations in Steap3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
|
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 |
2015-04-16 |
Incidental Mutation