Incidental Mutation 'R7439:Steap3'
ID |
576792 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Steap3
|
Ensembl Gene |
ENSMUSG00000026389 |
Gene Name |
STEAP family member 3 |
Synonyms |
1010001D01Rik, pHyde |
MMRRC Submission |
045515-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7439 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
120154137-120198810 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 120169248 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 350
(F350V)
|
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: F312V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108258 Gene: ENSMUSG00000026389 AA Change: F312V
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: F312V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108259 Gene: ENSMUSG00000026389 AA Change: F312V
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: F312V
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000108260 Gene: ENSMUSG00000026389 AA Change: F312V
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: F350V
PolyPhen 2
Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000108262 Gene: ENSMUSG00000026389 AA Change: F350V
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: F312V
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000121046 Gene: ENSMUSG00000026389 AA Change: F312V
Domain | Start | End | E-Value | Type |
Pfam:F420_oxidored
|
30 |
117 |
1.6e-18 |
PFAM |
Pfam:Ferric_reduct
|
259 |
406 |
3.6e-20 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
|
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: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl4fm5 |
T |
C |
4: 144,504,332 (GRCm39) |
D273G |
probably damaging |
Het |
Acacb |
T |
C |
5: 114,333,703 (GRCm39) |
V542A |
possibly damaging |
Het |
Adprhl1 |
C |
T |
8: 13,273,069 (GRCm39) |
V1230I |
probably benign |
Het |
Agpat1 |
T |
A |
17: 34,829,883 (GRCm39) |
Y77N |
probably damaging |
Het |
Apc |
T |
A |
18: 34,445,126 (GRCm39) |
I674K |
probably damaging |
Het |
Arpc5 |
T |
C |
1: 152,647,187 (GRCm39) |
S97P |
probably damaging |
Het |
Arrdc5 |
A |
G |
17: 56,604,931 (GRCm39) |
F119L |
probably benign |
Het |
Asap1 |
A |
G |
15: 64,002,105 (GRCm39) |
V402A |
probably damaging |
Het |
Aspg |
T |
C |
12: 112,091,255 (GRCm39) |
V479A |
possibly damaging |
Het |
B3galnt2 |
G |
A |
13: 14,169,070 (GRCm39) |
V368M |
probably benign |
Het |
Bcl3 |
T |
C |
7: 19,556,536 (GRCm39) |
T23A |
probably benign |
Het |
Bpifb5 |
A |
G |
2: 154,070,853 (GRCm39) |
K215E |
possibly damaging |
Het |
Coa4 |
T |
A |
7: 100,188,478 (GRCm39) |
C64S |
probably damaging |
Het |
Dcun1d4 |
T |
C |
5: 73,648,879 (GRCm39) |
|
probably null |
Het |
Dnaaf5 |
T |
G |
5: 139,151,868 (GRCm39) |
C506W |
probably damaging |
Het |
Dock3 |
A |
G |
9: 106,900,931 (GRCm39) |
Y345H |
probably damaging |
Het |
Dscaml1 |
A |
G |
9: 45,621,624 (GRCm39) |
N1024S |
possibly damaging |
Het |
Dsp |
T |
C |
13: 38,360,478 (GRCm39) |
|
probably null |
Het |
Dsp |
A |
G |
13: 38,379,425 (GRCm39) |
T2057A |
probably benign |
Het |
Dync1h1 |
T |
G |
12: 110,602,887 (GRCm39) |
L2176R |
probably damaging |
Het |
Eif5b |
A |
C |
1: 38,090,718 (GRCm39) |
D1192A |
probably benign |
Het |
Epn2 |
A |
T |
11: 61,437,674 (GRCm39) |
|
probably benign |
Het |
Exoc1 |
T |
A |
5: 76,693,195 (GRCm39) |
N360K |
probably benign |
Het |
Fam135b |
A |
T |
15: 71,335,529 (GRCm39) |
V555E |
probably damaging |
Het |
Fmn1 |
A |
T |
2: 113,271,956 (GRCm39) |
Q108L |
unknown |
Het |
Gcc2 |
A |
G |
10: 58,092,723 (GRCm39) |
T48A |
probably benign |
Het |
Gm6619 |
T |
G |
6: 131,467,354 (GRCm39) |
I73S |
possibly damaging |
Het |
Gm8267 |
T |
A |
14: 44,960,397 (GRCm39) |
D116V |
probably damaging |
Het |
Hapln3 |
T |
A |
7: 78,767,017 (GRCm39) |
T341S |
probably benign |
Het |
Lamb3 |
C |
A |
1: 193,014,474 (GRCm39) |
D544E |
possibly damaging |
Het |
Lhx5 |
T |
A |
5: 120,578,349 (GRCm39) |
S390T |
probably benign |
Het |
Lrrc63 |
A |
G |
14: 75,363,697 (GRCm39) |
S145P |
possibly damaging |
Het |
Lrriq1 |
T |
C |
10: 103,050,380 (GRCm39) |
M791V |
probably benign |
Het |
Lyg2 |
A |
G |
1: 37,950,218 (GRCm39) |
Y37H |
possibly damaging |
Het |
Lyz3 |
G |
A |
10: 117,074,602 (GRCm39) |
|
probably benign |
Het |
Nrbp1 |
T |
A |
5: 31,402,300 (GRCm39) |
M172K |
probably damaging |
Het |
Or2l13b |
T |
G |
16: 19,349,650 (GRCm39) |
S7R |
probably benign |
Het |
Or4c126 |
A |
G |
2: 89,824,183 (GRCm39) |
I149V |
probably benign |
Het |
Or8u9 |
T |
A |
2: 86,001,354 (GRCm39) |
D269V |
probably damaging |
Het |
Pcyt2 |
A |
T |
11: 120,502,209 (GRCm39) |
Y308N |
possibly damaging |
Het |
Peg10 |
C |
CTCA |
6: 4,756,453 (GRCm39) |
|
probably benign |
Het |
Phf21b |
A |
G |
15: 84,689,104 (GRCm39) |
S141P |
probably damaging |
Het |
Pigh |
G |
A |
12: 79,136,324 (GRCm39) |
P24S |
probably benign |
Het |
Plekhg3 |
A |
G |
12: 76,623,259 (GRCm39) |
D834G |
probably damaging |
Het |
Plekhg5 |
T |
A |
4: 152,198,392 (GRCm39) |
V860D |
probably benign |
Het |
Pon1 |
A |
G |
6: 5,177,399 (GRCm39) |
I170T |
probably damaging |
Het |
Ptpn9 |
T |
A |
9: 56,934,717 (GRCm39) |
Y160* |
probably null |
Het |
Ptprj |
T |
C |
2: 90,280,163 (GRCm39) |
K1045R |
possibly damaging |
Het |
Rilpl2 |
T |
A |
5: 124,601,851 (GRCm39) |
H196L |
probably benign |
Het |
Rnf112 |
C |
T |
11: 61,341,854 (GRCm39) |
V317I |
possibly damaging |
Het |
Rundc3a |
G |
T |
11: 102,290,872 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
T |
C |
5: 113,422,187 (GRCm39) |
Y489C |
probably damaging |
Het |
Sis |
G |
A |
3: 72,816,374 (GRCm39) |
H1531Y |
possibly damaging |
Het |
Slc26a9 |
A |
G |
1: 131,690,556 (GRCm39) |
Y520C |
probably damaging |
Het |
Smc5 |
A |
G |
19: 23,220,064 (GRCm39) |
V467A |
probably damaging |
Het |
Spata20 |
G |
A |
11: 94,374,867 (GRCm39) |
A245V |
probably benign |
Het |
Sucnr1 |
A |
G |
3: 59,994,117 (GRCm39) |
Q215R |
probably benign |
Het |
Supv3l1 |
G |
A |
10: 62,266,394 (GRCm39) |
A594V |
probably damaging |
Het |
Swt1 |
A |
T |
1: 151,286,815 (GRCm39) |
F226I |
probably benign |
Het |
Taar7f |
A |
G |
10: 23,925,885 (GRCm39) |
T160A |
possibly damaging |
Het |
Tada2a |
A |
T |
11: 84,017,812 (GRCm39) |
|
probably null |
Het |
Taok3 |
C |
A |
5: 117,388,974 (GRCm39) |
Q460K |
probably damaging |
Het |
Tasor |
T |
A |
14: 27,193,602 (GRCm39) |
V934E |
probably damaging |
Het |
Twf2 |
A |
G |
9: 106,091,597 (GRCm39) |
E268G |
probably damaging |
Het |
Upf2 |
A |
T |
2: 6,023,743 (GRCm39) |
I698F |
unknown |
Het |
Vmn2r35 |
T |
A |
7: 7,820,013 (GRCm39) |
N86Y |
probably damaging |
Het |
Vmn2r84 |
T |
C |
10: 130,227,982 (GRCm39) |
T85A |
possibly damaging |
Het |
Vps13d |
A |
G |
4: 144,832,426 (GRCm39) |
S2833P |
|
Het |
Xrn1 |
T |
C |
9: 95,933,682 (GRCm39) |
S1584P |
probably benign |
Het |
Zfp354b |
T |
C |
11: 50,813,224 (GRCm39) |
Y567C |
probably damaging |
Het |
Zfp52 |
A |
T |
17: 21,781,132 (GRCm39) |
R327* |
probably null |
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 |
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'- AAGTGTCTGCTCTTCCTTGG -3'
(R):5'- CAGCCATACATTCGGAAAGATGAG -3'
Sequencing Primer
(F):5'- GCCTCGCCTTGTTTAAATATGAG -3'
(R):5'- GAACAAGTTCTACAAGATGCCCTTG -3'
|
Posted On |
2019-10-07 |