Incidental Mutation 'IGL01148:Stac2'
ID |
52414 |
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 # |
IGL01148
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
97927449-97944288 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 97934387 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 106
(K106*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000017544
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017544]
|
AlphaFold |
Q8R1B0 |
Predicted Effect |
probably null
Transcript: ENSMUST00000017544
AA Change: K106*
|
SMART Domains |
Protein: ENSMUSP00000017544 Gene: ENSMUSG00000017400 AA Change: K106*
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 |
probably benign
Transcript: ENSMUST00000131519
|
SMART Domains |
Protein: ENSMUSP00000118164 Gene: ENSMUSG00000017400
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acap1 |
A |
T |
11: 69,781,729 (GRCm39) |
C64* |
probably null |
Het |
Ccng2 |
G |
A |
5: 93,418,746 (GRCm39) |
D124N |
probably damaging |
Het |
Cttnbp2 |
G |
A |
6: 18,382,817 (GRCm39) |
P1317L |
probably damaging |
Het |
Dsg1a |
T |
A |
18: 20,453,982 (GRCm39) |
V29E |
probably damaging |
Het |
Exoc6b |
T |
C |
6: 84,885,208 (GRCm39) |
K244E |
probably benign |
Het |
Fastkd5 |
A |
G |
2: 130,456,605 (GRCm39) |
F662L |
probably benign |
Het |
Fbxl18 |
T |
C |
5: 142,871,580 (GRCm39) |
M488V |
probably damaging |
Het |
Gas2l3 |
C |
T |
10: 89,249,366 (GRCm39) |
G584D |
probably benign |
Het |
Gm28042 |
T |
C |
2: 119,869,519 (GRCm39) |
F405L |
possibly damaging |
Het |
Gtf3c2 |
T |
C |
5: 31,317,168 (GRCm39) |
K635E |
probably damaging |
Het |
H2-Q2 |
A |
G |
17: 35,561,654 (GRCm39) |
Y48C |
probably damaging |
Het |
Hddc2 |
T |
C |
10: 31,192,330 (GRCm39) |
I78T |
probably damaging |
Het |
Hspg2 |
T |
A |
4: 137,273,969 (GRCm39) |
M2708K |
probably benign |
Het |
Ift88 |
T |
C |
14: 57,677,189 (GRCm39) |
S119P |
probably benign |
Het |
Mta2 |
T |
C |
19: 8,925,668 (GRCm39) |
C388R |
probably damaging |
Het |
Mymx |
G |
T |
17: 45,912,594 (GRCm39) |
|
probably benign |
Het |
Naga |
A |
G |
15: 82,214,861 (GRCm39) |
Y366H |
possibly damaging |
Het |
Nlrp9a |
A |
G |
7: 26,257,006 (GRCm39) |
E208G |
probably damaging |
Het |
Nr4a2 |
C |
T |
2: 57,001,983 (GRCm39) |
V94M |
probably benign |
Het |
Or4c124 |
G |
T |
2: 89,156,368 (GRCm39) |
T52K |
probably benign |
Het |
Osbpl8 |
G |
T |
10: 111,112,424 (GRCm39) |
|
probably benign |
Het |
Pitpnb |
T |
A |
5: 111,486,222 (GRCm39) |
V42D |
probably damaging |
Het |
Pitrm1 |
A |
G |
13: 6,623,141 (GRCm39) |
R801G |
probably benign |
Het |
Pthlh |
G |
A |
6: 147,154,073 (GRCm39) |
T174M |
probably benign |
Het |
Sco2 |
T |
C |
15: 89,255,924 (GRCm39) |
I243M |
probably benign |
Het |
Sema5a |
G |
A |
15: 32,681,641 (GRCm39) |
V907M |
probably benign |
Het |
Semp2l1 |
A |
G |
1: 32,584,735 (GRCm39) |
S392P |
possibly damaging |
Het |
Spata31e2 |
T |
C |
1: 26,724,253 (GRCm39) |
E309G |
probably benign |
Het |
Tas2r105 |
T |
A |
6: 131,663,815 (GRCm39) |
R204S |
probably damaging |
Het |
Tgm5 |
A |
G |
2: 120,877,156 (GRCm39) |
|
probably null |
Het |
Trpm1 |
A |
G |
7: 63,893,312 (GRCm39) |
I939V |
probably damaging |
Het |
Ttll11 |
T |
A |
2: 35,674,205 (GRCm39) |
N574I |
probably damaging |
Het |
Zfand3 |
A |
T |
17: 30,354,374 (GRCm39) |
T64S |
probably benign |
Het |
Zfyve26 |
G |
A |
12: 79,307,644 (GRCm39) |
H312Y |
probably benign |
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 |
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 |
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 |
2013-06-21 |