Incidental Mutation 'IGL03101:Stap2'
| ID |
418738 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stap2
|
| Ensembl Gene |
ENSMUSG00000038781 |
| Gene Name |
signal transducing adaptor family member 2 |
| Synonyms |
STAP-2 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03101
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
56304077-56312584 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 56309029 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 113
(I113F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038130
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000043785]
[ENSMUST00000133998]
|
| AlphaFold |
Q8R0L1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000043785
AA Change: I113F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781
AA Change: I113F
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
20 |
120 |
1.22e-3 |
SMART |
|
SH2
|
150 |
239 |
2.58e-3 |
SMART |
|
low complexity region
|
278 |
297 |
N/A |
INTRINSIC |
|
low complexity region
|
302 |
312 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
365 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000133998
|
| SMART Domains |
Protein: ENSMUSP00000122480
Gene: ENSMUSG00000003199
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
88 |
101 |
N/A |
INTRINSIC |
|
| 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 encodes the substrate of breast tumor kinase, an Src-type non-receptor tyrosine kinase. The encoded protein possesses domains and several tyrosine phosphorylation sites characteristic of adaptor proteins that mediate the interactions linking proteins involved in signal transduction pathways. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile and display no apparent abnormalities in most organs at the gross and histological level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AA474408 |
A |
T |
7: 109,660,177 (GRCm39) |
|
probably benign |
Het |
| Abcc1 |
T |
A |
16: 14,207,732 (GRCm39) |
V23D |
probably damaging |
Het |
| Adam8 |
G |
T |
7: 139,568,456 (GRCm39) |
N260K |
possibly damaging |
Het |
| Ap3b1 |
A |
T |
13: 94,591,906 (GRCm39) |
I457L |
probably benign |
Het |
| Apaf1 |
T |
C |
10: 90,867,421 (GRCm39) |
N808S |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,327,082 (GRCm39) |
T532A |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,967,592 (GRCm39) |
T162N |
possibly damaging |
Het |
| Clec12b |
A |
G |
6: 129,356,480 (GRCm39) |
|
probably null |
Het |
| Creb3 |
T |
C |
4: 43,563,081 (GRCm39) |
V60A |
probably benign |
Het |
| Cyp11b1 |
A |
G |
15: 74,707,703 (GRCm39) |
F469L |
probably benign |
Het |
| Defb28 |
A |
T |
2: 152,362,047 (GRCm39) |
E69V |
possibly damaging |
Het |
| Etnppl |
T |
C |
3: 130,415,967 (GRCm39) |
L118S |
probably damaging |
Het |
| Fsip1 |
T |
C |
2: 118,072,144 (GRCm39) |
Y213C |
probably damaging |
Het |
| Glb1l2 |
A |
G |
9: 26,676,421 (GRCm39) |
W480R |
probably damaging |
Het |
| Herc1 |
A |
T |
9: 66,395,279 (GRCm39) |
M4205L |
probably benign |
Het |
| Kif5a |
A |
T |
10: 127,071,478 (GRCm39) |
|
probably benign |
Het |
| Lmbrd2 |
C |
T |
15: 9,186,695 (GRCm39) |
R557C |
probably damaging |
Het |
| Map4k3 |
A |
G |
17: 80,963,284 (GRCm39) |
|
probably null |
Het |
| Npc1 |
A |
G |
18: 12,331,596 (GRCm39) |
I858T |
probably benign |
Het |
| Or7e173 |
T |
C |
9: 19,938,725 (GRCm39) |
T170A |
probably benign |
Het |
| Pecam1 |
A |
G |
11: 106,588,177 (GRCm39) |
V92A |
probably damaging |
Het |
| Rbm43 |
A |
T |
2: 51,816,757 (GRCm39) |
I70N |
probably benign |
Het |
| Rps6kb1 |
T |
C |
11: 86,393,708 (GRCm39) |
Y474C |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,954,205 (GRCm39) |
G459R |
possibly damaging |
Het |
| Snca |
T |
A |
6: 60,804,595 (GRCm39) |
|
probably benign |
Het |
| Spata31f1e |
T |
C |
4: 42,793,424 (GRCm39) |
D236G |
possibly damaging |
Het |
| Tas2r140 |
T |
C |
6: 40,468,764 (GRCm39) |
M198T |
probably benign |
Het |
| Trim9 |
T |
C |
12: 70,393,428 (GRCm39) |
E172G |
probably damaging |
Het |
| Ttll7 |
T |
C |
3: 146,602,445 (GRCm39) |
V81A |
possibly damaging |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,782 (GRCm39) |
Y53C |
probably damaging |
Het |
| Vmn2r22 |
C |
A |
6: 123,614,295 (GRCm39) |
A432S |
probably benign |
Het |
| Zfp943 |
T |
C |
17: 22,211,156 (GRCm39) |
S81P |
probably damaging |
Het |
|
| Other mutations in Stap2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01578:Stap2
|
APN |
17 |
56,304,623 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02087:Stap2
|
APN |
17 |
56,312,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02876:Stap2
|
APN |
17 |
56,306,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0033:Stap2
|
UTSW |
17 |
56,306,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0345:Stap2
|
UTSW |
17 |
56,307,097 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3405:Stap2
|
UTSW |
17 |
56,304,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3406:Stap2
|
UTSW |
17 |
56,304,511 (GRCm39) |
missense |
probably benign |
0.30 |
|
R3929:Stap2
|
UTSW |
17 |
56,310,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4210:Stap2
|
UTSW |
17 |
56,304,827 (GRCm39) |
nonsense |
probably null |
|
|
R4543:Stap2
|
UTSW |
17 |
56,304,604 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4934:Stap2
|
UTSW |
17 |
56,304,901 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5748:Stap2
|
UTSW |
17 |
56,307,475 (GRCm39) |
splice site |
probably null |
|
|
R6228:Stap2
|
UTSW |
17 |
56,306,976 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6617:Stap2
|
UTSW |
17 |
56,306,746 (GRCm39) |
missense |
probably benign |
|
|
R7092:Stap2
|
UTSW |
17 |
56,309,954 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7665:Stap2
|
UTSW |
17 |
56,304,909 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7879:Stap2
|
UTSW |
17 |
56,309,023 (GRCm39) |
missense |
probably benign |
0.45 |
|
R8008:Stap2
|
UTSW |
17 |
56,304,790 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8765:Stap2
|
UTSW |
17 |
56,310,145 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8930:Stap2
|
UTSW |
17 |
56,304,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8932:Stap2
|
UTSW |
17 |
56,304,895 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9444:Stap2
|
UTSW |
17 |
56,307,907 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R9764:Stap2
|
UTSW |
17 |
56,309,914 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Stap2
|
UTSW |
17 |
56,306,748 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation