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)
|
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
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: H125L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389 AA Change: H125L
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: H125L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389 AA Change: H125L
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: H163L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389 AA Change: H163L
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: H125L
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000121046 Gene: ENSMUSG00000026389 AA Change: H125L
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 |
0.1890 |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
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 |
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 |