Incidental Mutation 'IGL01861:Stap1'
| ID |
178320 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stap1
|
| Ensembl Gene |
ENSMUSG00000029254 |
| Gene Name |
signal transducing adaptor family member 1 |
| Synonyms |
STAP-1, Brdg1 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.164)
|
| Stock # |
IGL01861
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86219446-86251859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86244383 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 217
(I217V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031171
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031171]
[ENSMUST00000198435]
|
| AlphaFold |
Q9JM90 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000031171
AA Change: I217V
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
AA Change: I217V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
PH
|
26 |
123 |
5.01e-5 |
SMART |
|
low complexity region
|
159 |
166 |
N/A |
INTRINSIC |
|
SH2
|
177 |
264 |
3.71e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138076
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198435
AA Change: I255V
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: I255V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
11 |
N/A |
INTRINSIC |
|
PH
|
26 |
123 |
5.01e-5 |
SMART |
|
low complexity region
|
159 |
166 |
N/A |
INTRINSIC |
|
SH2
|
177 |
264 |
3.71e-4 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a proline-rich region, a pleckstrin homology (PH) domain, and a region in the carboxy terminal half with similarity to the Src Homology 2 (SH2) domain. This protein is a substrate of tyrosine-protein kinase Tec, and its interaction with tyrosine-protein kinase Tec is phosphorylation-dependent. This protein is thought to participate in a positive feedback loop by upregulating the activity of tyrosine-protein kinase Tec. Variants of this gene have been associated with autosomal-dominant hypercholesterolemia (ADH), which is characterized by elevated low-density lipoprotein cholesterol levels and in increased risk of coronary vascular disease. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arrdc5 |
T |
C |
17: 56,607,144 (GRCm39) |
T34A |
possibly damaging |
Het |
| Atm |
C |
A |
9: 53,405,912 (GRCm39) |
R1252L |
probably null |
Het |
| Cd34 |
T |
C |
1: 194,640,888 (GRCm39) |
|
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,226,256 (GRCm39) |
V2944A |
probably damaging |
Het |
| Cntnap3 |
C |
T |
13: 64,946,922 (GRCm39) |
G169D |
probably damaging |
Het |
| Dnah7a |
T |
A |
1: 53,679,508 (GRCm39) |
T326S |
probably benign |
Het |
| Dnah7a |
C |
T |
1: 53,623,608 (GRCm39) |
|
probably benign |
Het |
| Fam133b |
A |
G |
5: 3,614,242 (GRCm39) |
|
probably benign |
Het |
| Fhod1 |
A |
G |
8: 106,057,808 (GRCm39) |
S906P |
probably damaging |
Het |
| Gli3 |
A |
G |
13: 15,899,910 (GRCm39) |
Y1099C |
probably damaging |
Het |
| Gpr63 |
C |
T |
4: 25,008,545 (GRCm39) |
T423M |
probably damaging |
Het |
| Hpx |
A |
T |
7: 105,241,393 (GRCm39) |
Y339* |
probably null |
Het |
| Lingo2 |
A |
T |
4: 35,709,526 (GRCm39) |
D151E |
probably benign |
Het |
| Mill2 |
A |
T |
7: 18,590,565 (GRCm39) |
Q215L |
probably damaging |
Het |
| Naf1 |
T |
C |
8: 67,317,185 (GRCm39) |
|
probably benign |
Het |
| Ndufv1 |
A |
G |
19: 4,058,803 (GRCm39) |
V235A |
probably benign |
Het |
| Or8b41 |
T |
C |
9: 38,055,046 (GRCm39) |
I205T |
probably damaging |
Het |
| Pafah1b1 |
A |
T |
11: 74,581,403 (GRCm39) |
N22K |
possibly damaging |
Het |
| Prune1 |
G |
T |
3: 95,172,868 (GRCm39) |
R66S |
probably damaging |
Het |
| Ptcd1 |
A |
T |
5: 145,095,587 (GRCm39) |
I291N |
possibly damaging |
Het |
| Ptprk |
A |
G |
10: 28,259,441 (GRCm39) |
I294V |
possibly damaging |
Het |
| Rfx6 |
G |
A |
10: 51,597,675 (GRCm39) |
V471M |
probably damaging |
Het |
| Rnase6 |
C |
A |
14: 51,367,748 (GRCm39) |
Q47K |
probably benign |
Het |
| Skint5 |
T |
C |
4: 113,417,021 (GRCm39) |
|
probably benign |
Het |
| Srcap |
T |
A |
7: 127,124,457 (GRCm39) |
|
probably benign |
Het |
| Taf1d |
T |
C |
9: 15,220,035 (GRCm39) |
|
probably null |
Het |
| Tecta |
T |
C |
9: 42,284,658 (GRCm39) |
H809R |
probably benign |
Het |
| Tex15 |
A |
G |
8: 34,060,717 (GRCm39) |
N49S |
probably damaging |
Het |
| Tubb4b-ps1 |
A |
G |
5: 7,229,374 (GRCm39) |
|
probably benign |
Het |
| Uhrf2 |
A |
G |
19: 30,063,804 (GRCm39) |
Y589C |
probably damaging |
Het |
| Zfp616 |
A |
T |
11: 73,973,742 (GRCm39) |
T4S |
possibly damaging |
Het |
| Zfp687 |
A |
T |
3: 94,919,171 (GRCm39) |
F200L |
probably damaging |
Het |
|
| Other mutations in Stap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00661:Stap1
|
APN |
5 |
86,229,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02117:Stap1
|
APN |
5 |
86,234,552 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL02210:Stap1
|
APN |
5 |
86,225,920 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02374:Stap1
|
APN |
5 |
86,244,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02861:Stap1
|
APN |
5 |
86,219,824 (GRCm39) |
splice site |
probably benign |
|
|
IGL03368:Stap1
|
APN |
5 |
86,238,827 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0520:Stap1
|
UTSW |
5 |
86,238,823 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0701:Stap1
|
UTSW |
5 |
86,242,667 (GRCm39) |
splice site |
probably null |
|
|
R4674:Stap1
|
UTSW |
5 |
86,229,044 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5371:Stap1
|
UTSW |
5 |
86,244,375 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5373:Stap1
|
UTSW |
5 |
86,238,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5374:Stap1
|
UTSW |
5 |
86,238,787 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5866:Stap1
|
UTSW |
5 |
86,225,906 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6905:Stap1
|
UTSW |
5 |
86,238,781 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7573:Stap1
|
UTSW |
5 |
86,238,854 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8470:Stap1
|
UTSW |
5 |
86,242,602 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
| Posted On |
2014-05-07 |
Incidental Mutation