Incidental Mutation 'IGL02374:Stap1'
| ID |
291027 |
| 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 # |
IGL02374
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86219446-86251859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 86244410 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 264
(G264R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143251
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031171]
[ENSMUST00000198435]
|
| AlphaFold |
Q9JM90 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031171
AA Change: G226R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031171
Gene: ENSMUSG00000029254
AA Change: G226R
| 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 damaging
Transcript: ENSMUST00000198435
AA Change: G264R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000143251
Gene: ENSMUSG00000029254
AA Change: G264R
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arl5b |
T |
C |
2: 15,073,003 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cnksr3 |
A |
G |
10: 7,070,335 (GRCm39) |
S300P |
probably damaging |
Het |
| Col27a1 |
T |
C |
4: 63,211,486 (GRCm39) |
S1013P |
possibly damaging |
Het |
| Cyp39a1 |
A |
G |
17: 44,060,872 (GRCm39) |
|
probably benign |
Het |
| Deptor |
G |
T |
15: 55,044,357 (GRCm39) |
L174F |
probably damaging |
Het |
| Fah |
T |
C |
7: 84,254,909 (GRCm39) |
E8G |
probably benign |
Het |
| Fastk |
C |
A |
5: 24,649,247 (GRCm39) |
A47S |
possibly damaging |
Het |
| Foxl2 |
C |
T |
9: 98,837,885 (GRCm39) |
L58F |
probably damaging |
Het |
| Gm57858 |
T |
C |
3: 36,074,108 (GRCm39) |
Q347R |
possibly damaging |
Het |
| Igf2bp2 |
G |
T |
16: 21,900,618 (GRCm39) |
H106Q |
probably benign |
Het |
| Igkv12-47 |
T |
C |
6: 69,727,959 (GRCm39) |
T71A |
probably benign |
Het |
| Ino80d |
T |
C |
1: 63,125,220 (GRCm39) |
I81V |
possibly damaging |
Het |
| Ints9 |
G |
A |
14: 65,276,782 (GRCm39) |
E650K |
probably benign |
Het |
| Klc2 |
T |
C |
19: 5,160,438 (GRCm39) |
N408S |
possibly damaging |
Het |
| Klhl32 |
A |
T |
4: 24,743,856 (GRCm39) |
|
probably null |
Het |
| Ksr1 |
C |
T |
11: 78,919,317 (GRCm39) |
G504D |
probably benign |
Het |
| Lonp2 |
C |
A |
8: 87,435,673 (GRCm39) |
D636E |
probably damaging |
Het |
| Lpin3 |
G |
A |
2: 160,737,758 (GRCm39) |
|
probably benign |
Het |
| Mcmdc2 |
C |
T |
1: 9,982,207 (GRCm39) |
A56V |
possibly damaging |
Het |
| Or10al7 |
A |
T |
17: 38,366,412 (GRCm39) |
V24D |
probably damaging |
Het |
| Or4p8 |
A |
T |
2: 88,727,803 (GRCm39) |
I46N |
probably damaging |
Het |
| Pex1 |
T |
C |
5: 3,685,481 (GRCm39) |
I1163T |
probably benign |
Het |
| Ppp1r3a |
C |
T |
6: 14,718,599 (GRCm39) |
V772I |
probably damaging |
Het |
| Ptbp2 |
A |
T |
3: 119,514,342 (GRCm39) |
|
probably benign |
Het |
| Rell1 |
A |
T |
5: 64,095,151 (GRCm39) |
I105K |
possibly damaging |
Het |
| Sis |
A |
T |
3: 72,832,789 (GRCm39) |
S1003T |
probably benign |
Het |
| Slc26a3 |
T |
A |
12: 31,520,832 (GRCm39) |
|
probably benign |
Het |
| Tmem176b |
T |
C |
6: 48,811,560 (GRCm39) |
N30D |
possibly damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,832,056 (GRCm39) |
Y367N |
probably benign |
Het |
| Ttc41 |
A |
G |
10: 86,611,815 (GRCm39) |
D1061G |
probably damaging |
Het |
| Ufl1 |
A |
C |
4: 25,259,237 (GRCm39) |
D460E |
probably benign |
Het |
| Vmn2r104 |
T |
C |
17: 20,263,048 (GRCm39) |
I138V |
probably benign |
Het |
| Wdfy2 |
T |
C |
14: 63,171,833 (GRCm39) |
S194P |
probably benign |
Het |
| Zfp408 |
A |
C |
2: 91,476,156 (GRCm39) |
C333G |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,674,731 (GRCm39) |
V565A |
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 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation