Incidental Mutation 'IGL00661:Stap1'
| ID |
14259 |
| 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: 0.122)
|
| Stock # |
IGL00661
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86219446-86251859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86229132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 100
(H100R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031171]
[ENSMUST00000198435]
|
| AlphaFold |
Q9JM90 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031171
|
| SMART Domains |
Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
| 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: ENSMUST00000082925
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123393
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132546
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000151556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000198435
AA Change: H100R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: H100R
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AAdacl4fm3 |
A |
G |
4: 144,430,263 (GRCm39) |
V242A |
possibly damaging |
Het |
| Antxr2 |
T |
C |
5: 98,152,155 (GRCm39) |
D152G |
probably benign |
Het |
| Blmh |
A |
T |
11: 76,856,758 (GRCm39) |
K118* |
probably null |
Het |
| Bnip3 |
G |
A |
7: 138,499,801 (GRCm39) |
P62L |
probably damaging |
Het |
| Catsperb |
A |
T |
12: 101,554,357 (GRCm39) |
T684S |
probably damaging |
Het |
| Chd3 |
C |
A |
11: 69,248,209 (GRCm39) |
K894N |
possibly damaging |
Het |
| Chkb |
T |
A |
15: 89,311,794 (GRCm39) |
R133S |
probably benign |
Het |
| Dennd5a |
T |
C |
7: 109,507,579 (GRCm39) |
N803S |
probably benign |
Het |
| Dync2li1 |
A |
T |
17: 84,956,668 (GRCm39) |
D276V |
possibly damaging |
Het |
| Erap1 |
T |
C |
13: 74,822,908 (GRCm39) |
|
probably benign |
Het |
| Hgsnat |
C |
T |
8: 26,462,965 (GRCm39) |
V70M |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,509,673 (GRCm39) |
|
probably null |
Het |
| Lhcgr |
G |
A |
17: 89,057,546 (GRCm39) |
A315V |
probably benign |
Het |
| Lrrn4 |
C |
T |
2: 132,712,588 (GRCm39) |
V412I |
probably benign |
Het |
| Macrod2 |
G |
A |
2: 140,261,824 (GRCm39) |
|
probably null |
Het |
| Mmaa |
G |
A |
8: 80,008,199 (GRCm39) |
R13C |
probably damaging |
Het |
| Plpp4 |
T |
A |
7: 128,918,023 (GRCm39) |
I66N |
probably damaging |
Het |
| Prl4a1 |
T |
C |
13: 28,205,359 (GRCm39) |
V108A |
probably benign |
Het |
| Prss1 |
G |
T |
6: 41,439,553 (GRCm39) |
K95N |
possibly damaging |
Het |
| Rasa2 |
C |
T |
9: 96,459,606 (GRCm39) |
|
probably benign |
Het |
| Relb |
A |
G |
7: 19,350,336 (GRCm39) |
V208A |
possibly damaging |
Het |
| Sema3d |
T |
C |
5: 12,555,806 (GRCm39) |
S178P |
probably damaging |
Het |
| Slc18a1 |
A |
T |
8: 69,526,383 (GRCm39) |
W102R |
probably benign |
Het |
| Slc39a8 |
A |
C |
3: 135,563,873 (GRCm39) |
K239N |
probably benign |
Het |
| Suz12 |
T |
A |
11: 79,889,918 (GRCm39) |
V143E |
probably damaging |
Het |
| Tmf1 |
A |
G |
6: 97,153,455 (GRCm39) |
V206A |
probably benign |
Het |
| Trim16 |
T |
A |
11: 62,728,058 (GRCm39) |
|
probably benign |
Het |
| Ube2b |
C |
T |
11: 51,891,119 (GRCm39) |
|
probably null |
Het |
| Vmn1r223 |
T |
C |
13: 23,434,254 (GRCm39) |
S283P |
probably damaging |
Het |
| Wrn |
T |
A |
8: 33,809,173 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Stap1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01861:Stap1
|
APN |
5 |
86,244,383 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
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 |
2012-12-06 |
Incidental Mutation