Incidental Mutation 'IGL03386:Stac2'
| ID |
420871 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stac2
|
| Ensembl Gene |
ENSMUSG00000017400 |
| Gene Name |
SH3 and cysteine rich domain 2 |
| Synonyms |
24b2/STAC2, 24b2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.110)
|
| Stock # |
IGL03386
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97927449-97944288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 97931966 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 103
(Q103L)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017544]
|
| AlphaFold |
Q8R1B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017544
AA Change: Q278L
PolyPhen 2
Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: Q278L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
63 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
89 |
101 |
N/A |
INTRINSIC |
|
C1
|
111 |
161 |
1.73e-5 |
SMART |
|
low complexity region
|
219 |
236 |
N/A |
INTRINSIC |
|
low complexity region
|
261 |
276 |
N/A |
INTRINSIC |
|
SH3
|
292 |
347 |
1.92e-18 |
SMART |
|
Blast:SH3
|
352 |
407 |
1e-19 |
BLAST |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131519
AA Change: Q103L
PolyPhen 2
Score 0.518 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118164
Gene: ENSMUSG00000017400
AA Change: Q103L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:STAC2_u1
|
6 |
115 |
1.8e-32 |
PFAM |
|
low complexity region
|
146 |
157 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arid2 |
T |
C |
15: 96,259,455 (GRCm39) |
F236L |
probably damaging |
Het |
| AU018091 |
T |
C |
7: 3,211,107 (GRCm39) |
Y274C |
probably damaging |
Het |
| BC024139 |
A |
G |
15: 76,005,945 (GRCm39) |
F419L |
probably benign |
Het |
| Cd300ld |
T |
G |
11: 114,874,998 (GRCm39) |
D212A |
probably benign |
Het |
| Ces1g |
T |
C |
8: 94,052,440 (GRCm39) |
H283R |
probably benign |
Het |
| Chac2 |
T |
A |
11: 30,927,720 (GRCm39) |
K66N |
probably benign |
Het |
| Emc1 |
T |
C |
4: 139,091,092 (GRCm39) |
|
probably null |
Het |
| Eml6 |
G |
A |
11: 29,699,934 (GRCm39) |
A1734V |
probably benign |
Het |
| Erich3 |
G |
A |
3: 154,444,876 (GRCm39) |
E548K |
possibly damaging |
Het |
| Gm3604 |
T |
A |
13: 62,517,981 (GRCm39) |
E105D |
possibly damaging |
Het |
| Gpr158 |
A |
G |
2: 21,831,057 (GRCm39) |
K719R |
probably damaging |
Het |
| Heatr6 |
T |
C |
11: 83,650,203 (GRCm39) |
S220P |
probably damaging |
Het |
| Kcnip4 |
T |
C |
5: 48,639,889 (GRCm39) |
Y74C |
probably damaging |
Het |
| Kmt2b |
T |
C |
7: 30,273,396 (GRCm39) |
H2380R |
possibly damaging |
Het |
| Lars2 |
A |
T |
9: 123,282,455 (GRCm39) |
K680* |
probably null |
Het |
| Macc1 |
T |
A |
12: 119,409,598 (GRCm39) |
M122K |
probably benign |
Het |
| Pbrm1 |
A |
G |
14: 30,772,049 (GRCm39) |
D381G |
probably damaging |
Het |
| Phf11d |
A |
G |
14: 59,599,309 (GRCm39) |
|
probably benign |
Het |
| Qrsl1 |
A |
G |
10: 43,752,546 (GRCm39) |
Y426H |
possibly damaging |
Het |
| Riok1 |
T |
A |
13: 38,241,213 (GRCm39) |
L456* |
probably null |
Het |
| Rps6kc1 |
A |
G |
1: 190,531,767 (GRCm39) |
L745P |
probably damaging |
Het |
| Sh3tc2 |
A |
T |
18: 62,106,382 (GRCm39) |
H137L |
probably benign |
Het |
| Shoc1 |
T |
C |
4: 59,069,315 (GRCm39) |
K704E |
possibly damaging |
Het |
| Shroom3 |
T |
A |
5: 93,096,342 (GRCm39) |
|
probably benign |
Het |
| Thnsl1 |
G |
A |
2: 21,216,359 (GRCm39) |
A38T |
probably benign |
Het |
| Traf3ip2 |
A |
G |
10: 39,521,704 (GRCm39) |
I421V |
probably benign |
Het |
| Vmn2r14 |
T |
C |
5: 109,368,350 (GRCm39) |
D214G |
possibly damaging |
Het |
|
| Other mutations in Stac2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00332:Stac2
|
APN |
11 |
97,932,005 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01148:Stac2
|
APN |
11 |
97,934,387 (GRCm39) |
nonsense |
probably null |
|
|
IGL01320:Stac2
|
APN |
11 |
97,930,921 (GRCm39) |
splice site |
probably null |
|
|
IGL01614:Stac2
|
APN |
11 |
97,943,774 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL01637:Stac2
|
APN |
11 |
97,932,180 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02797:Stac2
|
APN |
11 |
97,934,345 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03025:Stac2
|
APN |
11 |
97,934,548 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0699:Stac2
|
UTSW |
11 |
97,933,611 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1664:Stac2
|
UTSW |
11 |
97,933,420 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1799:Stac2
|
UTSW |
11 |
97,930,444 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1868:Stac2
|
UTSW |
11 |
97,943,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4731:Stac2
|
UTSW |
11 |
97,930,521 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Stac2
|
UTSW |
11 |
97,932,198 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R4943:Stac2
|
UTSW |
11 |
97,932,398 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4955:Stac2
|
UTSW |
11 |
97,934,374 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R5171:Stac2
|
UTSW |
11 |
97,934,324 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7345:Stac2
|
UTSW |
11 |
97,933,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7527:Stac2
|
UTSW |
11 |
97,930,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7963:Stac2
|
UTSW |
11 |
97,932,403 (GRCm39) |
missense |
probably benign |
|
|
R7982:Stac2
|
UTSW |
11 |
97,933,379 (GRCm39) |
missense |
probably benign |
|
|
R8878:Stac2
|
UTSW |
11 |
97,932,373 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9790:Stac2
|
UTSW |
11 |
97,934,449 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9791:Stac2
|
UTSW |
11 |
97,934,449 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1176:Stac2
|
UTSW |
11 |
97,934,393 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation