Incidental Mutation 'R8732:Steap3'
ID |
662778 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Steap3
|
Ensembl Gene |
ENSMUSG00000026389 |
Gene Name |
STEAP family member 3 |
Synonyms |
1010001D01Rik, pHyde |
MMRRC Submission |
068580-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8732 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120171624 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 160
(H160Q)
|
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: H122Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108258 Gene: ENSMUSG00000026389 AA Change: H122Q
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: H122Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389 AA Change: H122Q
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: H122Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389 AA Change: H122Q
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: H160Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389 AA Change: H160Q
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: H122Q
PolyPhen 2
Score 0.067 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000121046 Gene: ENSMUSG00000026389 AA Change: H122Q
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 |
0.6467 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.0%
|
Validation Efficiency |
98% (63/64) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adtrp |
A |
T |
13: 41,981,622 (GRCm39) |
N82K |
probably damaging |
Het |
Ankrd36 |
T |
A |
11: 5,578,906 (GRCm39) |
S57T |
possibly damaging |
Het |
Aoc3 |
A |
G |
11: 101,222,643 (GRCm39) |
N293S |
probably benign |
Het |
Aup1 |
A |
T |
6: 83,033,602 (GRCm39) |
H302L |
probably damaging |
Het |
Bptf |
G |
A |
11: 106,931,206 (GRCm39) |
R277W |
probably damaging |
Het |
Cald1 |
A |
G |
6: 34,734,946 (GRCm39) |
I346V |
unknown |
Het |
Cd44 |
T |
C |
2: 102,664,645 (GRCm39) |
T519A |
possibly damaging |
Het |
Cela1 |
A |
G |
15: 100,580,766 (GRCm39) |
|
probably null |
Het |
Ces2g |
T |
C |
8: 105,689,195 (GRCm39) |
V57A |
possibly damaging |
Het |
Cpt1b |
G |
C |
15: 89,308,628 (GRCm39) |
T100S |
probably benign |
Het |
D6Wsu163e |
A |
T |
6: 126,932,859 (GRCm39) |
I361F |
possibly damaging |
Het |
Dock5 |
A |
T |
14: 68,083,449 (GRCm39) |
D153E |
possibly damaging |
Het |
Dync2h1 |
G |
T |
9: 7,168,326 (GRCm39) |
R430S |
probably damaging |
Het |
Dync2i2 |
T |
A |
2: 29,922,220 (GRCm39) |
T414S |
possibly damaging |
Het |
Efcab3 |
T |
A |
11: 104,695,100 (GRCm39) |
F1730L |
probably benign |
Het |
Eml5 |
C |
T |
12: 98,782,218 (GRCm39) |
G1405R |
probably damaging |
Het |
Ergic2 |
G |
A |
6: 148,102,975 (GRCm39) |
A91V |
probably damaging |
Het |
Fancl |
A |
T |
11: 26,419,754 (GRCm39) |
I336L |
probably benign |
Het |
Fpr3 |
A |
G |
17: 18,191,223 (GRCm39) |
T165A |
possibly damaging |
Het |
Gon4l |
A |
G |
3: 88,807,291 (GRCm39) |
I1662V |
possibly damaging |
Het |
Gpr153 |
C |
T |
4: 152,363,558 (GRCm39) |
|
probably benign |
Het |
Hdac4 |
C |
A |
1: 91,875,239 (GRCm39) |
A911S |
probably damaging |
Het |
Ighd |
T |
C |
12: 113,378,183 (GRCm39) |
N139D |
|
Het |
Klhl22 |
T |
A |
16: 17,589,690 (GRCm39) |
L117Q |
probably damaging |
Het |
Kntc1 |
A |
G |
5: 123,928,180 (GRCm39) |
S1226G |
probably benign |
Het |
Lama5 |
A |
T |
2: 179,828,481 (GRCm39) |
C2126S |
probably damaging |
Het |
Ldlr |
A |
G |
9: 21,650,985 (GRCm39) |
I468V |
probably benign |
Het |
Lmtk3 |
G |
A |
7: 45,447,712 (GRCm39) |
A1253T |
unknown |
Het |
Lta |
T |
A |
17: 35,423,045 (GRCm39) |
N93Y |
probably damaging |
Het |
Macf1 |
A |
T |
4: 123,403,563 (GRCm39) |
|
probably null |
Het |
Mink1 |
A |
G |
11: 70,500,902 (GRCm39) |
|
probably null |
Het |
Myl10 |
G |
C |
5: 136,726,825 (GRCm39) |
V70L |
probably benign |
Het |
Ntpcr |
A |
G |
8: 126,472,074 (GRCm39) |
M132V |
probably benign |
Het |
Or14a257 |
A |
G |
7: 86,138,061 (GRCm39) |
S233P |
probably damaging |
Het |
Or52n1 |
A |
G |
7: 104,383,115 (GRCm39) |
M152T |
probably benign |
Het |
Or7g32 |
T |
C |
9: 19,408,098 (GRCm39) |
I18T |
probably benign |
Het |
Padi2 |
A |
G |
4: 140,660,590 (GRCm39) |
I357V |
probably benign |
Het |
Pax7 |
G |
T |
4: 139,506,920 (GRCm39) |
H372Q |
probably benign |
Het |
Paxip1 |
A |
G |
5: 27,949,541 (GRCm39) |
Y966H |
probably damaging |
Het |
Pde4b |
A |
C |
4: 102,412,822 (GRCm39) |
D199A |
probably null |
Het |
Pkd1l2 |
T |
C |
8: 117,792,311 (GRCm39) |
N494D |
probably benign |
Het |
Prdm2 |
G |
T |
4: 142,862,580 (GRCm39) |
Q237K |
probably benign |
Het |
Prune2 |
T |
C |
19: 17,097,769 (GRCm39) |
L1091P |
probably damaging |
Het |
Rab9 |
C |
T |
X: 165,240,754 (GRCm39) |
D186N |
probably benign |
Het |
Rassf5 |
A |
G |
1: 131,106,264 (GRCm39) |
*414Q |
probably null |
Het |
Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
Rrp9 |
C |
A |
9: 106,360,388 (GRCm39) |
T238K |
probably benign |
Het |
Slc44a2 |
A |
G |
9: 21,259,882 (GRCm39) |
D630G |
probably benign |
Het |
Slc7a9 |
A |
G |
7: 35,156,443 (GRCm39) |
D295G |
probably benign |
Het |
Slco3a1 |
A |
T |
7: 73,934,054 (GRCm39) |
M706K |
possibly damaging |
Het |
Spag9 |
T |
C |
11: 93,962,514 (GRCm39) |
|
probably null |
Het |
Stam2 |
A |
T |
2: 52,590,180 (GRCm39) |
Y394N |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,510,442 (GRCm39) |
L341P |
probably damaging |
Het |
Stxbp5l |
A |
T |
16: 37,061,809 (GRCm39) |
C334S |
probably benign |
Het |
Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
Tmem74 |
A |
T |
15: 43,731,456 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,537,480 (GRCm39) |
K34816R |
possibly damaging |
Het |
Ttn |
T |
A |
2: 76,627,735 (GRCm39) |
N14736I |
probably damaging |
Het |
Vmn1r183 |
A |
G |
7: 23,754,890 (GRCm39) |
Q231R |
possibly damaging |
Het |
Vmn1r235 |
A |
G |
17: 21,482,439 (GRCm39) |
T255A |
probably damaging |
Het |
Wasl |
A |
T |
6: 24,619,209 (GRCm39) |
I437K |
unknown |
Het |
Ywhae |
A |
G |
11: 75,642,769 (GRCm39) |
N43D |
probably damaging |
Het |
Zfp583 |
A |
T |
7: 6,320,210 (GRCm39) |
Y267* |
probably null |
Het |
Zfp608 |
C |
T |
18: 55,121,072 (GRCm39) |
G172R |
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 |
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 |
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'- AACTCCCTGCTGTGTAAGATGAG -3'
(R):5'- TGGACAGTGATGGCAGTCTG -3'
Sequencing Primer
(F):5'- ATGAGATTTTTATAGTGGCATGCAG -3'
(R):5'- AAAGTGGGCATCCTGGGC -3'
|
Posted On |
2021-03-08 |