Incidental Mutation 'IGL01320:Stac2'
| ID |
74026 |
| 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 # |
IGL01320
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
97927449-97944288 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 97930921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017544]
|
| AlphaFold |
Q8R1B0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000017544
|
| SMART Domains |
Protein: ENSMUSP00000017544
Gene: ENSMUSG00000017400
| 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 null
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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
T |
C |
6: 128,552,551 (GRCm39) |
E229G |
probably benign |
Het |
| Abca16 |
T |
A |
7: 120,038,422 (GRCm39) |
L368Q |
probably damaging |
Het |
| Ankrd17 |
A |
T |
5: 90,407,988 (GRCm39) |
S1410T |
probably damaging |
Het |
| Asb8 |
A |
G |
15: 98,039,159 (GRCm39) |
|
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,902,614 (GRCm39) |
I421T |
probably damaging |
Het |
| Chrdl2 |
A |
G |
7: 99,666,248 (GRCm39) |
Y56C |
probably damaging |
Het |
| Crnn |
T |
C |
3: 93,055,519 (GRCm39) |
S102P |
probably damaging |
Het |
| Cyb5a |
T |
C |
18: 84,897,648 (GRCm39) |
I115T |
probably damaging |
Het |
| Daw1 |
T |
C |
1: 83,175,901 (GRCm39) |
I213T |
possibly damaging |
Het |
| Dcp1b |
T |
A |
6: 119,192,036 (GRCm39) |
S317R |
probably benign |
Het |
| Dnah7a |
T |
C |
1: 53,473,205 (GRCm39) |
M3474V |
probably benign |
Het |
| E2f7 |
G |
A |
10: 110,589,954 (GRCm39) |
V36I |
probably benign |
Het |
| Esrp1 |
A |
G |
4: 11,384,374 (GRCm39) |
I103T |
possibly damaging |
Het |
| Hap1 |
G |
A |
11: 100,240,206 (GRCm39) |
T530I |
probably damaging |
Het |
| Hps3 |
T |
C |
3: 20,084,633 (GRCm39) |
N185S |
probably benign |
Het |
| Klra1 |
T |
A |
6: 130,341,224 (GRCm39) |
I250F |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,062,040 (GRCm39) |
T332A |
probably benign |
Het |
| Ltbp4 |
A |
G |
7: 27,027,784 (GRCm39) |
|
probably benign |
Het |
| Ncor2 |
A |
G |
5: 125,186,991 (GRCm39) |
V11A |
probably benign |
Het |
| Nipsnap2 |
C |
T |
5: 129,821,828 (GRCm39) |
T108M |
probably damaging |
Het |
| Or10ab4 |
A |
G |
7: 107,654,188 (GRCm39) |
|
probably benign |
Het |
| Or5w22 |
T |
A |
2: 87,362,629 (GRCm39) |
M84K |
probably benign |
Het |
| Ppid |
A |
G |
3: 79,502,584 (GRCm39) |
E46G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,866,375 (GRCm39) |
L626P |
probably damaging |
Het |
| Slc6a15 |
A |
T |
10: 103,240,606 (GRCm39) |
I410F |
probably benign |
Het |
| Sorcs1 |
A |
G |
19: 50,276,517 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| St8sia5 |
A |
T |
18: 77,342,318 (GRCm39) |
T307S |
probably damaging |
Het |
| Tiam2 |
T |
C |
17: 3,556,020 (GRCm39) |
L77P |
probably damaging |
Het |
| Tmem87b |
G |
T |
2: 128,673,136 (GRCm39) |
G190V |
probably damaging |
Het |
| Trav7-6 |
T |
C |
14: 53,954,565 (GRCm39) |
S32P |
possibly damaging |
Het |
| Unc45b |
A |
G |
11: 82,803,219 (GRCm39) |
|
probably null |
Het |
| Wnt1 |
C |
A |
15: 98,690,404 (GRCm39) |
D244E |
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation