Incidental Mutation 'IGL01614:Stac2'
| ID |
92314 |
| 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: 0.151)
|
| Stock # |
IGL01614
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97927449-97944288 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97943774 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 12
(D12G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000017544
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017544]
|
| AlphaFold |
Q8R1B0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017544
AA Change: D12G
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
AA Change: D12G
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf5 |
T |
A |
17: 43,735,362 (GRCm39) |
S143T |
possibly damaging |
Het |
| Arhgap32 |
G |
T |
9: 32,171,801 (GRCm39) |
S1527I |
probably damaging |
Het |
| Atp8a2 |
A |
G |
14: 60,282,437 (GRCm39) |
V128A |
probably damaging |
Het |
| Bpi |
T |
C |
2: 158,113,866 (GRCm39) |
F255L |
probably damaging |
Het |
| Clptm1 |
A |
T |
7: 19,371,625 (GRCm39) |
D269E |
probably benign |
Het |
| Cyria |
T |
C |
12: 12,411,574 (GRCm39) |
|
probably null |
Het |
| E2f7 |
T |
C |
10: 110,595,839 (GRCm39) |
V63A |
probably damaging |
Het |
| Eif4e1b |
T |
A |
13: 54,934,729 (GRCm39) |
I184N |
probably damaging |
Het |
| Gal3st1 |
T |
A |
11: 3,948,996 (GRCm39) |
L401Q |
probably damaging |
Het |
| Gm7808 |
G |
A |
9: 19,839,442 (GRCm39) |
|
probably benign |
Het |
| Hdac5 |
G |
A |
11: 102,090,854 (GRCm39) |
T741I |
probably benign |
Het |
| Ipo5 |
A |
G |
14: 121,172,507 (GRCm39) |
T522A |
probably benign |
Het |
| Lama5 |
A |
C |
2: 179,822,657 (GRCm39) |
F2832V |
probably damaging |
Het |
| Ltk |
A |
C |
2: 119,583,968 (GRCm39) |
L230R |
probably damaging |
Het |
| Mettl14 |
A |
T |
3: 123,167,609 (GRCm39) |
|
probably benign |
Het |
| Myom1 |
T |
C |
17: 71,433,173 (GRCm39) |
F1507L |
possibly damaging |
Het |
| Nsd3 |
T |
A |
8: 26,156,095 (GRCm39) |
I554K |
possibly damaging |
Het |
| Or1j12 |
T |
G |
2: 36,342,636 (GRCm39) |
I13S |
probably benign |
Het |
| Or1o1 |
G |
A |
17: 37,716,529 (GRCm39) |
C30Y |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,576 (GRCm39) |
V221I |
probably benign |
Het |
| Or8u9 |
A |
T |
2: 86,001,741 (GRCm39) |
I140N |
possibly damaging |
Het |
| Prr14 |
T |
A |
7: 127,074,305 (GRCm39) |
L279H |
probably damaging |
Het |
| Rbm25 |
G |
T |
12: 83,706,341 (GRCm39) |
D229Y |
probably damaging |
Het |
| Sdk2 |
T |
C |
11: 113,684,684 (GRCm39) |
K1926E |
probably damaging |
Het |
| Slc25a23 |
C |
T |
17: 57,352,579 (GRCm39) |
R435Q |
probably null |
Het |
| Srebf2 |
A |
G |
15: 82,063,054 (GRCm39) |
N457S |
probably benign |
Het |
| Tal1 |
A |
C |
4: 114,920,325 (GRCm39) |
|
probably null |
Het |
| Usp25 |
G |
A |
16: 76,874,005 (GRCm39) |
R527Q |
probably 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 |
|
|
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 |
|
IGL03386:Stac2
|
APN |
11 |
97,931,966 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
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 |
2013-12-09 |
Incidental Mutation