Incidental Mutation 'IGL00505:Stac'
ID |
6131 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stac
|
Ensembl Gene |
ENSMUSG00000032502 |
Gene Name |
src homology three (SH3) and cysteine rich domain |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.151)
|
Stock # |
IGL00505
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
111390505-111519416 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 111464107 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 53
(R53Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035083
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035083]
[ENSMUST00000161995]
|
AlphaFold |
P97306 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035083
AA Change: R53Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000035083 Gene: ENSMUSG00000032502 AA Change: R53Q
Domain | Start | End | E-Value | Type |
low complexity region
|
78 |
93 |
N/A |
INTRINSIC |
C1
|
109 |
160 |
5.91e-13 |
SMART |
low complexity region
|
213 |
232 |
N/A |
INTRINSIC |
SH3
|
289 |
344 |
3.45e-20 |
SMART |
Pfam:SH3_2
|
349 |
401 |
6.3e-7 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000161995
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162345
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca15 |
T |
A |
7: 119,968,459 (GRCm39) |
|
probably null |
Het |
Akap6 |
A |
G |
12: 52,933,885 (GRCm39) |
H459R |
possibly damaging |
Het |
Anxa5 |
A |
G |
3: 36,511,646 (GRCm39) |
S144P |
possibly damaging |
Het |
Cacna1h |
T |
G |
17: 25,600,482 (GRCm39) |
T1620P |
probably damaging |
Het |
Cdc27 |
T |
G |
11: 104,412,258 (GRCm39) |
T444P |
probably benign |
Het |
Cfap46 |
C |
T |
7: 139,240,605 (GRCm39) |
S56N |
probably damaging |
Het |
Cntnap5b |
A |
G |
1: 100,306,886 (GRCm39) |
R868G |
possibly damaging |
Het |
Cyp2j5 |
A |
T |
4: 96,519,012 (GRCm39) |
N421K |
probably damaging |
Het |
Dhcr7 |
T |
C |
7: 143,400,805 (GRCm39) |
Y323H |
probably damaging |
Het |
Dnai4 |
G |
T |
4: 102,960,439 (GRCm39) |
S70R |
possibly damaging |
Het |
Gabrq |
T |
C |
X: 71,881,971 (GRCm39) |
S601P |
probably damaging |
Het |
Gm3404 |
T |
A |
5: 146,465,095 (GRCm39) |
D278E |
probably damaging |
Het |
Gpr61 |
A |
G |
3: 108,058,514 (GRCm39) |
M49T |
probably damaging |
Het |
Map3k20 |
T |
C |
2: 72,219,827 (GRCm39) |
F253S |
probably damaging |
Het |
Ndst3 |
G |
A |
3: 123,421,599 (GRCm39) |
|
probably benign |
Het |
Rcor3 |
C |
T |
1: 191,812,271 (GRCm39) |
|
probably benign |
Het |
Slc15a2 |
C |
A |
16: 36,574,137 (GRCm39) |
C572F |
probably benign |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Spaca1 |
A |
G |
4: 34,029,077 (GRCm39) |
I132T |
probably damaging |
Het |
Spag6 |
C |
A |
2: 18,738,995 (GRCm39) |
N308K |
probably benign |
Het |
Tekt3 |
A |
G |
11: 62,961,064 (GRCm39) |
S78G |
probably benign |
Het |
Vdac3 |
C |
T |
8: 23,070,393 (GRCm39) |
G172S |
possibly damaging |
Het |
Wdr87-ps |
A |
C |
7: 29,233,608 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Stac |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01870:Stac
|
APN |
9 |
111,401,400 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02999:Stac
|
APN |
9 |
111,433,198 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03004:Stac
|
APN |
9 |
111,431,608 (GRCm39) |
missense |
probably benign |
0.00 |
R0240:Stac
|
UTSW |
9 |
111,464,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R0240:Stac
|
UTSW |
9 |
111,464,089 (GRCm39) |
missense |
probably damaging |
0.99 |
R1777:Stac
|
UTSW |
9 |
111,433,150 (GRCm39) |
missense |
possibly damaging |
0.94 |
R2210:Stac
|
UTSW |
9 |
111,431,638 (GRCm39) |
missense |
probably damaging |
0.99 |
R2237:Stac
|
UTSW |
9 |
111,519,190 (GRCm39) |
start gained |
probably benign |
|
R2238:Stac
|
UTSW |
9 |
111,519,190 (GRCm39) |
start gained |
probably benign |
|
R2239:Stac
|
UTSW |
9 |
111,519,190 (GRCm39) |
start gained |
probably benign |
|
R4125:Stac
|
UTSW |
9 |
111,433,126 (GRCm39) |
critical splice donor site |
probably null |
|
R4126:Stac
|
UTSW |
9 |
111,433,126 (GRCm39) |
critical splice donor site |
probably null |
|
R4128:Stac
|
UTSW |
9 |
111,433,126 (GRCm39) |
critical splice donor site |
probably null |
|
R7069:Stac
|
UTSW |
9 |
111,401,394 (GRCm39) |
missense |
possibly damaging |
0.89 |
R8248:Stac
|
UTSW |
9 |
111,422,813 (GRCm39) |
missense |
probably benign |
0.01 |
R9030:Stac
|
UTSW |
9 |
111,519,320 (GRCm39) |
unclassified |
probably benign |
|
R9562:Stac
|
UTSW |
9 |
111,401,411 (GRCm39) |
missense |
probably benign |
0.00 |
X0057:Stac
|
UTSW |
9 |
111,401,401 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Posted On |
2012-04-20 |