Incidental Mutation 'R1439:Steap3'
ID |
160821 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Steap3
|
Ensembl Gene |
ENSMUSG00000026389 |
Gene Name |
STEAP family member 3 |
Synonyms |
1010001D01Rik, pHyde |
MMRRC Submission |
039494-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1439 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 120155550 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Isoleucine
at position 470
(F470I)
|
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: F432I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108258 Gene: ENSMUSG00000026389 AA Change: F432I
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: F432I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389 AA Change: F432I
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: F432I
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389 AA Change: F432I
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: F470I
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389 AA Change: F470I
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
|
SMART Domains |
Protein: ENSMUSP00000121046 Gene: ENSMUSG00000026389
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 |
0.3034 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.4%
- 20x: 86.3%
|
Validation Efficiency |
100% (72/72) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agap1 |
A |
G |
1: 89,770,908 (GRCm39) |
N499S |
probably damaging |
Het |
AI661453 |
C |
A |
17: 47,777,587 (GRCm39) |
|
probably benign |
Het |
Akap1 |
C |
A |
11: 88,735,577 (GRCm39) |
G362* |
probably null |
Het |
Alkbh1 |
A |
G |
12: 87,475,915 (GRCm39) |
V289A |
probably damaging |
Het |
Bnc2 |
C |
T |
4: 84,194,305 (GRCm39) |
E1035K |
probably benign |
Het |
C1s2 |
T |
A |
6: 124,607,126 (GRCm39) |
|
probably benign |
Het |
Cabin1 |
A |
G |
10: 75,492,640 (GRCm39) |
I1885T |
probably damaging |
Het |
Col22a1 |
A |
G |
15: 71,824,226 (GRCm39) |
|
probably benign |
Het |
Cpne4 |
A |
T |
9: 104,866,831 (GRCm39) |
T248S |
probably damaging |
Het |
Cracd |
T |
C |
5: 76,988,757 (GRCm39) |
V36A |
probably damaging |
Het |
Cubn |
T |
C |
2: 13,292,379 (GRCm39) |
N3268S |
probably damaging |
Het |
Ddx10 |
T |
A |
9: 53,151,787 (GRCm39) |
K79N |
probably damaging |
Het |
Dennd1a |
A |
C |
2: 37,933,412 (GRCm39) |
L131R |
probably damaging |
Het |
Dnah9 |
T |
C |
11: 65,764,958 (GRCm39) |
Y3862C |
probably benign |
Het |
Eif3e |
A |
G |
15: 43,141,824 (GRCm39) |
|
probably benign |
Het |
Emsy |
T |
C |
7: 98,250,048 (GRCm39) |
|
probably benign |
Het |
Ep400 |
A |
T |
5: 110,833,344 (GRCm39) |
D1959E |
unknown |
Het |
Fpr-rs7 |
A |
G |
17: 20,333,869 (GRCm39) |
I207T |
probably benign |
Het |
Fubp3 |
C |
A |
2: 31,488,563 (GRCm39) |
L140I |
probably damaging |
Het |
Gas2l2 |
T |
C |
11: 83,318,298 (GRCm39) |
D137G |
probably damaging |
Het |
Git1 |
G |
T |
11: 77,397,244 (GRCm39) |
R699L |
possibly damaging |
Het |
Gnao1 |
T |
A |
8: 94,690,065 (GRCm39) |
F27L |
probably benign |
Het |
Hlx |
G |
T |
1: 184,464,184 (GRCm39) |
A52D |
probably damaging |
Het |
Itga6 |
T |
G |
2: 71,664,378 (GRCm39) |
Y505D |
probably damaging |
Het |
Itgad |
A |
T |
7: 127,782,178 (GRCm39) |
T205S |
probably benign |
Het |
Jakmip3 |
A |
T |
7: 138,631,375 (GRCm39) |
Y574F |
probably benign |
Het |
Laptm5 |
G |
T |
4: 130,653,520 (GRCm39) |
|
probably benign |
Het |
Mlana |
A |
T |
19: 29,684,252 (GRCm39) |
R71S |
probably benign |
Het |
Mroh2a |
G |
C |
1: 88,185,524 (GRCm39) |
E1510D |
probably damaging |
Het |
Mus81 |
G |
C |
19: 5,535,145 (GRCm39) |
R295G |
probably benign |
Het |
Ncapd3 |
T |
A |
9: 26,998,862 (GRCm39) |
|
probably null |
Het |
Nectin1 |
A |
G |
9: 43,703,396 (GRCm39) |
E218G |
possibly damaging |
Het |
Nectin3 |
A |
T |
16: 46,268,757 (GRCm39) |
Y548* |
probably null |
Het |
Nif3l1 |
T |
C |
1: 58,487,102 (GRCm39) |
F96S |
probably damaging |
Het |
Ntrk1 |
A |
G |
3: 87,696,918 (GRCm39) |
|
probably null |
Het |
Obsl1 |
C |
A |
1: 75,463,428 (GRCm39) |
E1755* |
probably null |
Het |
Or4p23 |
T |
C |
2: 88,577,178 (GRCm39) |
E18G |
possibly damaging |
Het |
Osbpl9 |
T |
C |
4: 108,958,353 (GRCm39) |
D74G |
probably damaging |
Het |
Osgin1 |
T |
A |
8: 120,169,852 (GRCm39) |
|
probably null |
Het |
Otogl |
A |
G |
10: 107,615,113 (GRCm39) |
Y1931H |
probably benign |
Het |
Pmepa1 |
A |
G |
2: 173,069,874 (GRCm39) |
I227T |
probably benign |
Het |
Pprc1 |
T |
A |
19: 46,052,175 (GRCm39) |
N564K |
possibly damaging |
Het |
Prkaa1 |
T |
C |
15: 5,194,225 (GRCm39) |
F92S |
probably damaging |
Het |
Ptprd |
A |
G |
4: 75,984,437 (GRCm39) |
F811L |
probably damaging |
Het |
Rad54b |
A |
G |
4: 11,606,152 (GRCm39) |
K520R |
possibly damaging |
Het |
Rbfox1 |
A |
G |
16: 7,148,297 (GRCm39) |
T269A |
possibly damaging |
Het |
Rfwd3 |
T |
C |
8: 112,004,920 (GRCm39) |
Y554C |
probably damaging |
Het |
Rfx2 |
A |
T |
17: 57,094,720 (GRCm39) |
V208E |
probably damaging |
Het |
Rgs22 |
G |
T |
15: 36,025,939 (GRCm39) |
|
probably benign |
Het |
Rrbp1 |
A |
G |
2: 143,797,032 (GRCm39) |
|
probably null |
Het |
Ryr2 |
C |
T |
13: 11,729,389 (GRCm39) |
|
probably benign |
Het |
Sbno1 |
A |
G |
5: 124,522,523 (GRCm39) |
|
probably benign |
Het |
Secisbp2 |
T |
C |
13: 51,833,759 (GRCm39) |
|
probably benign |
Het |
Sgsm2 |
C |
A |
11: 74,759,964 (GRCm39) |
R58L |
probably benign |
Het |
Slc25a36 |
A |
C |
9: 96,975,126 (GRCm39) |
|
probably benign |
Het |
Spink4 |
A |
G |
4: 40,929,121 (GRCm39) |
T49A |
possibly damaging |
Het |
Stk10 |
A |
G |
11: 32,567,919 (GRCm39) |
Q907R |
probably damaging |
Het |
Tdrd5 |
A |
G |
1: 156,105,057 (GRCm39) |
V446A |
probably damaging |
Het |
Tmem117 |
G |
A |
15: 94,992,478 (GRCm39) |
M379I |
probably benign |
Het |
Trappc12 |
A |
G |
12: 28,797,160 (GRCm39) |
L124P |
possibly damaging |
Het |
Trim9 |
G |
A |
12: 70,297,867 (GRCm39) |
H613Y |
probably damaging |
Het |
Trio |
A |
G |
15: 27,898,000 (GRCm39) |
W371R |
probably damaging |
Het |
Ulk4 |
G |
C |
9: 121,095,324 (GRCm39) |
H110D |
possibly damaging |
Het |
Upb1 |
T |
C |
10: 75,275,776 (GRCm39) |
V387A |
probably benign |
Het |
Utrn |
A |
T |
10: 12,619,793 (GRCm39) |
I284N |
possibly damaging |
Het |
Vmn2r111 |
C |
A |
17: 22,790,097 (GRCm39) |
W303L |
probably benign |
Het |
Vmn2r15 |
G |
T |
5: 109,441,953 (GRCm39) |
P160Q |
probably damaging |
Het |
Wdtc1 |
A |
G |
4: 133,029,118 (GRCm39) |
S323P |
probably benign |
Het |
Zfp846 |
T |
A |
9: 20,505,393 (GRCm39) |
C418S |
possibly damaging |
Het |
Zfyve26 |
G |
T |
12: 79,298,937 (GRCm39) |
P441Q |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGTGCAGCATCCAGAAAAGAGACC -3'
(R):5'- GCAGGCCCAGATAGTTTAGGAAGC -3'
Sequencing Primer
(F):5'- AGCCATCTCCACTTCCAGG -3'
(R):5'- gtgagacagaggtagaaagatgag -3'
|
Posted On |
2014-03-14 |