Incidental Mutation 'IGL02492:Steap1'
| ID |
295684 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02492
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
5786322-5799317 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5790561 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 129
(V129A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000015796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000015796]
|
| AlphaFold |
Q9CWR7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000015796
AA Change: V129A
PolyPhen 2
Score 0.872 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000015796
Gene: ENSMUSG00000015652
AA Change: V129A
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atm |
A |
G |
9: 53,367,159 (GRCm39) |
L2482P |
probably damaging |
Het |
| Bcl11b |
T |
C |
12: 107,881,945 (GRCm39) |
Y718C |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,102,262 (GRCm39) |
E1320G |
probably benign |
Het |
| Ccrl2 |
A |
G |
9: 110,884,871 (GRCm39) |
I209T |
probably benign |
Het |
| Cd200r2 |
A |
G |
16: 44,729,903 (GRCm39) |
K149R |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Col18a1 |
A |
G |
10: 76,907,855 (GRCm39) |
|
probably benign |
Het |
| Cops5 |
T |
A |
1: 10,097,377 (GRCm39) |
T291S |
probably benign |
Het |
| Csmd1 |
C |
A |
8: 16,052,597 (GRCm39) |
V2176F |
probably benign |
Het |
| Ctse |
C |
A |
1: 131,595,972 (GRCm39) |
S221R |
probably damaging |
Het |
| Cxcl3 |
A |
G |
5: 90,934,199 (GRCm39) |
|
probably null |
Het |
| Cyp51 |
C |
T |
5: 4,154,304 (GRCm39) |
V2I |
probably benign |
Het |
| Dennd5a |
A |
G |
7: 109,532,844 (GRCm39) |
F285L |
probably benign |
Het |
| Dst |
T |
G |
1: 34,191,274 (GRCm39) |
|
probably benign |
Het |
| Frzb |
A |
T |
2: 80,254,935 (GRCm39) |
|
probably benign |
Het |
| Gm5070 |
A |
T |
3: 95,318,354 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9637 |
A |
G |
14: 19,402,182 (GRCm38) |
|
noncoding transcript |
Het |
| Grip1 |
A |
G |
10: 119,765,945 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
C |
T |
2: 79,086,001 (GRCm39) |
|
probably benign |
Het |
| Ltbp2 |
A |
T |
12: 84,856,439 (GRCm39) |
I675N |
probably damaging |
Het |
| Or4n4b |
T |
G |
14: 50,536,060 (GRCm39) |
K235N |
probably damaging |
Het |
| Pcdhb20 |
G |
T |
18: 37,639,453 (GRCm39) |
V660L |
probably benign |
Het |
| Prex2 |
T |
G |
1: 11,194,069 (GRCm39) |
L484R |
possibly damaging |
Het |
| Prkg1 |
A |
T |
19: 30,701,602 (GRCm39) |
V305D |
probably damaging |
Het |
| Rab44 |
A |
G |
17: 29,365,023 (GRCm39) |
|
probably benign |
Het |
| Smpd4 |
C |
T |
16: 17,457,215 (GRCm39) |
A391V |
probably damaging |
Het |
| Smyd4 |
T |
C |
11: 75,294,252 (GRCm39) |
L711P |
probably benign |
Het |
| Spag16 |
T |
G |
1: 69,926,688 (GRCm39) |
M261R |
probably benign |
Het |
| Tbcd |
A |
T |
11: 121,387,960 (GRCm39) |
I364L |
probably benign |
Het |
| Trmt13 |
C |
T |
3: 116,376,192 (GRCm39) |
D400N |
possibly damaging |
Het |
| Vps13a |
A |
G |
19: 16,625,001 (GRCm39) |
S2753P |
probably damaging |
Het |
| Xirp2 |
T |
G |
2: 67,346,511 (GRCm39) |
S2917R |
probably damaging |
Het |
| Zfp983 |
G |
A |
17: 21,876,528 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Steap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
E0370:Steap1
|
UTSW |
5 |
5,790,673 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation