Incidental Mutation 'R6038:Steap3'
ID |
486657 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Steap3
|
Ensembl Gene |
ENSMUSG00000026389 |
Gene Name |
STEAP family member 3 |
Synonyms |
1010001D01Rik, pHyde |
MMRRC Submission |
044208-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6038 (G1)
|
Quality Score |
176.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 120169371 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 271
(Y271H)
|
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 damaging
Transcript: ENSMUST00000112639
AA Change: Y271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108258 Gene: ENSMUSG00000026389 AA Change: Y271H
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: Y271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389 AA Change: Y271H
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: Y271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389 AA Change: Y271H
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: Y309H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389 AA Change: Y309H
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 damaging
Transcript: ENSMUST00000140490
AA Change: Y271H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121046 Gene: ENSMUSG00000026389 AA Change: Y271H
Domain | Start | End | E-Value | Type |
Pfam:F420_oxidored
|
30 |
117 |
1.6e-18 |
PFAM |
Pfam:Ferric_reduct
|
259 |
406 |
3.6e-20 |
PFAM |
|
Meta Mutation Damage Score |
0.8215 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
Validation Efficiency |
100% (65/65) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
A |
G |
17: 46,615,286 (GRCm39) |
C1327R |
probably damaging |
Het |
Adcy7 |
A |
G |
8: 89,049,608 (GRCm39) |
T704A |
probably benign |
Het |
Adgra3 |
A |
T |
5: 50,156,487 (GRCm39) |
Y414* |
probably null |
Het |
Adgrf1 |
T |
C |
17: 43,606,100 (GRCm39) |
S75P |
probably benign |
Het |
Akirin1 |
A |
G |
4: 123,643,956 (GRCm39) |
M1T |
probably null |
Het |
Antxr1 |
C |
A |
6: 87,263,982 (GRCm39) |
|
probably null |
Het |
Arid1b |
A |
T |
17: 5,386,957 (GRCm39) |
Y1470F |
probably benign |
Het |
Baiap3 |
T |
C |
17: 25,465,308 (GRCm39) |
D649G |
probably damaging |
Het |
Cabin1 |
A |
G |
10: 75,575,200 (GRCm39) |
V615A |
probably benign |
Het |
Cntnap1 |
G |
A |
11: 101,075,462 (GRCm39) |
R880Q |
probably benign |
Het |
Col28a1 |
T |
C |
6: 8,013,140 (GRCm39) |
T971A |
probably benign |
Het |
Coro7 |
A |
T |
16: 4,497,414 (GRCm39) |
|
probably null |
Het |
Cspg4b |
G |
A |
13: 113,455,153 (GRCm39) |
V400M |
possibly damaging |
Het |
Defb19 |
T |
G |
2: 152,418,187 (GRCm39) |
|
probably null |
Het |
Dnah17 |
T |
C |
11: 117,946,715 (GRCm39) |
D3045G |
probably benign |
Het |
Dock4 |
A |
T |
12: 40,783,350 (GRCm39) |
|
probably null |
Het |
Egln3 |
A |
G |
12: 54,228,476 (GRCm39) |
V210A |
probably damaging |
Het |
Epb41l4a |
T |
C |
18: 33,987,388 (GRCm39) |
S330G |
probably benign |
Het |
Epha7 |
G |
A |
4: 28,821,521 (GRCm39) |
E229K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Garin4 |
C |
T |
1: 190,894,919 (GRCm39) |
E575K |
probably damaging |
Het |
Garin5a |
C |
T |
7: 44,149,719 (GRCm39) |
R147W |
probably damaging |
Het |
Garin5b |
T |
C |
7: 4,756,594 (GRCm39) |
|
probably null |
Het |
Gm29587 |
G |
A |
12: 74,269,309 (GRCm39) |
|
probably null |
Het |
Gxylt2 |
T |
A |
6: 100,781,555 (GRCm39) |
L410Q |
probably damaging |
Het |
H2-M10.3 |
C |
A |
17: 36,679,287 (GRCm39) |
C6F |
probably benign |
Het |
Hecw1 |
G |
T |
13: 14,520,647 (GRCm39) |
Q197K |
probably benign |
Het |
Hk3 |
T |
C |
13: 55,154,373 (GRCm39) |
M778V |
probably benign |
Het |
Hydin |
A |
G |
8: 111,325,663 (GRCm39) |
T4691A |
probably benign |
Het |
Larp1 |
A |
G |
11: 57,932,431 (GRCm39) |
E204G |
possibly damaging |
Het |
Lrp12 |
A |
C |
15: 39,735,776 (GRCm39) |
W738G |
probably damaging |
Het |
Mdga2 |
A |
T |
12: 66,676,827 (GRCm39) |
D488E |
probably damaging |
Het |
Mrc1 |
G |
C |
2: 14,261,882 (GRCm39) |
W290C |
probably damaging |
Het |
Mtrex |
A |
T |
13: 113,027,824 (GRCm39) |
S679T |
probably benign |
Het |
Nhp2 |
T |
C |
11: 51,510,912 (GRCm39) |
V55A |
probably benign |
Het |
Nrm |
T |
C |
17: 36,172,397 (GRCm39) |
S41P |
possibly damaging |
Het |
Or10ag54 |
T |
A |
2: 87,099,611 (GRCm39) |
I141N |
possibly damaging |
Het |
Or11g25 |
T |
C |
14: 50,723,677 (GRCm39) |
L254P |
probably damaging |
Het |
Or7e165 |
A |
G |
9: 19,694,858 (GRCm39) |
Y143C |
probably benign |
Het |
Osbpl7 |
C |
T |
11: 96,941,542 (GRCm39) |
P22S |
probably benign |
Het |
Pebp1 |
A |
T |
5: 117,422,170 (GRCm39) |
L124Q |
probably benign |
Het |
Pfkp |
G |
T |
13: 6,648,005 (GRCm39) |
H524N |
probably benign |
Het |
Pnmt |
G |
A |
11: 98,278,594 (GRCm39) |
D187N |
probably damaging |
Het |
Ppl |
A |
T |
16: 4,920,445 (GRCm39) |
I355K |
possibly damaging |
Het |
Prom1 |
A |
T |
5: 44,159,135 (GRCm39) |
Y836N |
probably damaging |
Het |
Rubcnl |
T |
C |
14: 75,269,410 (GRCm39) |
S23P |
probably benign |
Het |
Sap130 |
T |
A |
18: 31,813,539 (GRCm39) |
I532N |
probably damaging |
Het |
Serpina1e |
A |
T |
12: 103,913,095 (GRCm39) |
|
probably null |
Het |
Slc12a3 |
T |
G |
8: 95,057,100 (GRCm39) |
S124R |
probably benign |
Het |
Slc24a5 |
A |
G |
2: 124,927,651 (GRCm39) |
T317A |
probably benign |
Het |
Smarcad1 |
T |
C |
6: 65,050,232 (GRCm39) |
S284P |
possibly damaging |
Het |
Spag9 |
C |
G |
11: 94,002,918 (GRCm39) |
R724G |
probably damaging |
Het |
Speg |
T |
C |
1: 75,395,103 (GRCm39) |
|
probably null |
Het |
Syne2 |
C |
T |
12: 75,925,158 (GRCm39) |
Q44* |
probably null |
Het |
Tas2r114 |
A |
T |
6: 131,666,444 (GRCm39) |
C195S |
possibly damaging |
Het |
Tcl1b4 |
T |
C |
12: 105,168,766 (GRCm39) |
M10T |
possibly damaging |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Vmn2r60 |
C |
A |
7: 41,844,386 (GRCm39) |
A583D |
probably benign |
Het |
Wdhd1 |
T |
C |
14: 47,501,037 (GRCm39) |
Q455R |
possibly damaging |
Het |
Wdr17 |
A |
G |
8: 55,085,346 (GRCm39) |
|
probably null |
Het |
Xbp1 |
T |
C |
11: 5,474,798 (GRCm39) |
L233P |
probably benign |
Het |
Zbtb17 |
A |
G |
4: 141,191,752 (GRCm39) |
E288G |
probably benign |
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 |
|
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 |
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'- GCTTCACAGCCAGATTGACC -3'
(R):5'- AGGTAGAAGCCATACCCCTG -3'
Sequencing Primer
(F):5'- CAGATTGACCAGGTCGTAGC -3'
(R):5'- ATCCTGGAAGGTGCCCAC -3'
|
Posted On |
2017-08-16 |