Incidental Mutation 'E0370:Steap1'
| ID |
206404 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Steap1
|
| Ensembl Gene |
ENSMUSG00000015652 |
| Gene Name |
six transmembrane epithelial antigen of the prostate 1 |
| Synonyms |
2410007B19Rik, Prss24 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.178)
|
| Stock # |
E0370 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
5786322-5799317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5790673 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 92
(R92G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015796]
|
| AlphaFold |
Q9CWR7 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000015796
AA Change: R92G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000015796
Gene: ENSMUSG00000015652
AA Change: R92G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferric_reduct
|
118 |
264 |
2e-17 |
PFAM |
|
transmembrane domain
|
289 |
311 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169542
|
| SMART Domains |
Protein: ENSMUSP00000126005
Gene: ENSMUSG00000015652
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Ferric_reduct
|
10 |
77 |
2.7e-10 |
PFAM |
|
| Meta Mutation Damage Score |
0.7961 |
| Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.8%
- 10x: 95.0%
- 20x: 91.1%
|
| Validation Efficiency |
100% (33/33) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is predominantly expressed in prostate tissue, and is found to be upregulated in multiple cancer cell lines. The gene product is predicted to be a six-transmembrane protein, and was shown to be a cell surface antigen significantly expressed at cell-cell junctions. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930544D05Rik |
TGCAGCGACTGGACGGCGGCA |
TGCA |
11: 70,507,252 (GRCm39) |
|
probably null |
Het |
| Aire |
T |
A |
10: 77,877,897 (GRCm39) |
N180I |
probably damaging |
Het |
| Asic3 |
G |
T |
5: 24,618,985 (GRCm39) |
L92F |
probably damaging |
Het |
| Birc6 |
G |
A |
17: 74,984,352 (GRCm39) |
D4455N |
probably damaging |
Het |
| Cd36 |
A |
T |
5: 17,990,747 (GRCm39) |
C464* |
probably null |
Het |
| Cdx1 |
A |
C |
18: 61,153,501 (GRCm39) |
I179S |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,406,441 (GRCm39) |
|
probably null |
Het |
| Dst |
A |
T |
1: 34,288,552 (GRCm39) |
|
probably benign |
Het |
| Epb41l3 |
A |
G |
17: 69,581,799 (GRCm39) |
N580S |
possibly damaging |
Het |
| Hnrnpm |
A |
T |
17: 33,877,896 (GRCm39) |
|
probably benign |
Het |
| Katnip |
A |
G |
7: 125,449,474 (GRCm39) |
D846G |
probably benign |
Het |
| Map2 |
A |
T |
1: 66,455,883 (GRCm39) |
|
probably benign |
Het |
| Mapk11 |
T |
C |
15: 89,030,716 (GRCm39) |
D88G |
probably damaging |
Het |
| Mbd4 |
C |
T |
6: 115,826,116 (GRCm39) |
E271K |
possibly damaging |
Het |
| Mpp4 |
T |
G |
1: 59,178,917 (GRCm39) |
|
probably benign |
Het |
| Mtarc1 |
T |
C |
1: 184,527,425 (GRCm39) |
|
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,282,598 (GRCm39) |
Y609H |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,857 (GRCm39) |
D307E |
probably damaging |
Het |
| Pex1 |
T |
A |
5: 3,681,614 (GRCm39) |
|
probably null |
Het |
| Prdm11 |
T |
C |
2: 92,810,924 (GRCm39) |
Y225C |
probably damaging |
Het |
| Psmc3 |
T |
A |
2: 90,885,463 (GRCm39) |
|
probably null |
Het |
| Slc26a8 |
A |
T |
17: 28,861,361 (GRCm39) |
D774E |
possibly damaging |
Het |
| Slc9a2 |
A |
T |
1: 40,802,701 (GRCm39) |
|
probably null |
Het |
| Smc1b |
A |
G |
15: 85,011,782 (GRCm39) |
Y168H |
probably damaging |
Het |
| Tbx22 |
T |
C |
X: 106,728,759 (GRCm39) |
I430T |
probably benign |
Het |
| Tfap4 |
T |
A |
16: 4,377,334 (GRCm39) |
H16L |
possibly damaging |
Het |
| Tnxb |
A |
G |
17: 34,897,917 (GRCm39) |
D855G |
probably damaging |
Het |
| Trip13 |
A |
G |
13: 74,068,558 (GRCm39) |
|
probably benign |
Het |
| Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
| Vmn2r121 |
A |
G |
X: 123,037,617 (GRCm39) |
V801A |
probably benign |
Het |
| Wiz |
C |
T |
17: 32,574,092 (GRCm39) |
R935Q |
probably damaging |
Het |
|
| Other mutations in Steap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02492:Steap1
|
APN |
5 |
5,790,561 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
PIT4468001:Steap1
|
UTSW |
5 |
5,786,642 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0087:Steap1
|
UTSW |
5 |
5,786,664 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0281:Steap1
|
UTSW |
5 |
5,786,431 (GRCm39) |
missense |
probably benign |
|
|
R0525:Steap1
|
UTSW |
5 |
5,792,903 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0834:Steap1
|
UTSW |
5 |
5,790,357 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1665:Steap1
|
UTSW |
5 |
5,786,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1941:Steap1
|
UTSW |
5 |
5,790,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4808:Steap1
|
UTSW |
5 |
5,788,829 (GRCm39) |
intron |
probably benign |
|
|
R4860:Steap1
|
UTSW |
5 |
5,786,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4860:Steap1
|
UTSW |
5 |
5,786,589 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5004:Steap1
|
UTSW |
5 |
5,792,829 (GRCm39) |
nonsense |
probably null |
|
|
R5138:Steap1
|
UTSW |
5 |
5,786,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5330:Steap1
|
UTSW |
5 |
5,790,422 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5583:Steap1
|
UTSW |
5 |
5,790,579 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6273:Steap1
|
UTSW |
5 |
5,790,827 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8342:Steap1
|
UTSW |
5 |
5,790,816 (GRCm39) |
missense |
probably benign |
|
|
R8478:Steap1
|
UTSW |
5 |
5,786,432 (GRCm39) |
missense |
probably benign |
0.30 |
|
R8850:Steap1
|
UTSW |
5 |
5,790,838 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8949:Steap1
|
UTSW |
5 |
5,789,940 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9036:Steap1
|
UTSW |
5 |
5,790,708 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9344:Steap1
|
UTSW |
5 |
5,786,459 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9402:Steap1
|
UTSW |
5 |
5,790,664 (GRCm39) |
missense |
|
|
|
R9473:Steap1
|
UTSW |
5 |
5,790,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9495:Steap1
|
UTSW |
5 |
5,786,458 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9548:Steap1
|
UTSW |
5 |
5,790,700 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9777:Steap1
|
UTSW |
5 |
5,786,517 (GRCm39) |
missense |
probably benign |
0.13 |
|
Z1177:Steap1
|
UTSW |
5 |
5,790,580 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
Z1177:Steap1
|
UTSW |
5 |
5,789,882 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTACTTGGTTCCATTGCGAAG -3'
(R):5'- AAATCCCATGCTTTGTCCAGTG -3'
Sequencing Primer
(F):5'- GAAGCTGTACAACTGCCGC -3'
(R):5'- CTTTCGTAGACTAAGGACTCGG -3'
|
| Posted On |
2014-06-23 |
Incidental Mutation