Incidental Mutation 'R5176:Steap3'
ID |
399242 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Steap3
|
Ensembl Gene |
ENSMUSG00000026389 |
Gene Name |
STEAP family member 3 |
Synonyms |
1010001D01Rik, pHyde |
MMRRC Submission |
042756-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5176 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (1 bp from exon) |
DNA Base Change (assembly) |
C to T
at 120171497 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
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 null
Transcript: ENSMUST00000112639
|
SMART Domains |
Protein: ENSMUSP00000108258 Gene: ENSMUSG00000026389
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 null
Transcript: ENSMUST00000112640
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389
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 null
Transcript: ENSMUST00000112641
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389
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 null
Transcript: ENSMUST00000112643
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389
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 null
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 |
0.9495 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
Apobr |
A |
G |
7: 126,184,188 (GRCm39) |
D2G |
probably damaging |
Het |
Arhgef12 |
A |
T |
9: 42,931,982 (GRCm39) |
H168Q |
probably damaging |
Het |
Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
Rusc1 |
A |
G |
3: 88,996,389 (GRCm39) |
S109P |
probably damaging |
Het |
Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
Trappc11 |
C |
A |
8: 47,963,998 (GRCm39) |
V601L |
possibly damaging |
Het |
Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
Xpo1 |
A |
G |
11: 23,245,977 (GRCm39) |
D1029G |
probably damaging |
Het |
Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
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 |
|
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 |
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'- GGAAACTCAGTTCCCGTCTC -3'
(R):5'- TTCCGGGAGCACTATTCCTCAC -3'
Sequencing Primer
(F):5'- GTTCCCGTCTCAAAAAGAACATGG -3'
(R):5'- GAGCACTATTCCTCACTGTGCAG -3'
|
Posted On |
2016-07-06 |