Incidental Mutation 'R4465:Stag2'
| ID |
500634 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag2
|
| Ensembl Gene |
ENSMUSG00000025862 |
| Gene Name |
STAG2 cohesin complex component |
| Synonyms |
B230112I07Rik, SAP2, nuclear protein SA2, 9230105L23Rik, SA-2 |
| MMRRC Submission |
041580-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.959)
|
| Stock # |
R4465 (G1)
|
| Quality Score |
222 |
|
Status
|
Not validated
|
| Chromosome |
X |
| Chromosomal Location |
41238194-41366062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 41322749 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Serine to Glycine
at position 400
(S400G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110725
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000069619]
[ENSMUST00000115072]
[ENSMUST00000115073]
|
| AlphaFold |
O35638 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000069619
AA Change: S400G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000063250
Gene: ENSMUSG00000025862
AA Change: S400G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
68 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
154 |
273 |
3e-50 |
PFAM |
|
SCOP:d1b3ua_
|
275 |
439 |
2e-3 |
SMART |
|
low complexity region
|
501 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115072
AA Change: S400G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000110724
Gene: ENSMUSG00000025862
AA Change: S400G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
68 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
154 |
273 |
3e-50 |
PFAM |
|
SCOP:d1b3ua_
|
275 |
439 |
2e-3 |
SMART |
|
low complexity region
|
501 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1101 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000115073
AA Change: S400G
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000110725
Gene: ENSMUSG00000025862
AA Change: S400G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
68 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
271 |
6.3e-41 |
PFAM |
|
SCOP:d1b3ua_
|
275 |
439 |
2e-3 |
SMART |
|
low complexity region
|
501 |
513 |
N/A |
INTRINSIC |
|
low complexity region
|
1096 |
1101 |
N/A |
INTRINSIC |
|
coiled coil region
|
1169 |
1189 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0839 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of the cohesin complex, which regulates the separation of sister chromatids during cell division. Targeted inactivation of this gene results in chromatid cohesion defects and aneuploidy, suggesting that genetic disruption of cohesin is a cause of aneuploidy in human cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2013]
PHENOTYPE: Knockdown of expression of this gene results in lineage skewing of hematopoietic stem cells and myeloproliferative disorders in aged mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
G |
T |
5: 64,056,182 (GRCm39) |
|
probably benign |
Het |
| Acsbg2 |
A |
G |
17: 57,168,580 (GRCm39) |
Y180H |
probably damaging |
Het |
| Adgrb3 |
G |
T |
1: 25,133,447 (GRCm39) |
T1213K |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,802,388 (GRCm39) |
T510A |
probably benign |
Het |
| Clasp1 |
C |
A |
1: 118,488,808 (GRCm39) |
T857N |
probably damaging |
Het |
| Cldn8 |
A |
C |
16: 88,359,619 (GRCm39) |
M102R |
probably damaging |
Het |
| Col12a1 |
C |
A |
9: 79,580,192 (GRCm39) |
V1562F |
possibly damaging |
Het |
| Cyp4f40 |
T |
A |
17: 32,890,186 (GRCm39) |
D285E |
probably benign |
Het |
| Dis3 |
G |
A |
14: 99,321,550 (GRCm39) |
S599L |
possibly damaging |
Het |
| Dnah11 |
T |
C |
12: 117,951,186 (GRCm39) |
T3041A |
probably benign |
Het |
| Erbin |
T |
C |
13: 103,981,393 (GRCm39) |
N511D |
probably benign |
Het |
| F11 |
T |
A |
8: 45,694,511 (GRCm39) |
I617F |
probably damaging |
Het |
| Gm11541 |
A |
T |
11: 94,595,048 (GRCm39) |
C7S |
unknown |
Het |
| Klk12 |
A |
T |
7: 43,422,807 (GRCm39) |
R245W |
probably damaging |
Het |
| Lao1 |
C |
A |
4: 118,822,504 (GRCm39) |
S141R |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,632,023 (GRCm39) |
K1316E |
probably damaging |
Het |
| Map3k6 |
A |
G |
4: 132,973,644 (GRCm39) |
Y445C |
possibly damaging |
Het |
| Mup6 |
T |
C |
4: 60,004,000 (GRCm39) |
I31T |
probably damaging |
Het |
| Ndnf |
T |
A |
6: 65,681,180 (GRCm39) |
D486E |
probably benign |
Het |
| Or2a54 |
T |
C |
6: 43,092,852 (GRCm39) |
Y59H |
probably damaging |
Het |
| Or8h7 |
A |
T |
2: 86,721,494 (GRCm39) |
N8K |
probably benign |
Het |
| Or8k37 |
A |
T |
2: 86,469,478 (GRCm39) |
N191K |
probably benign |
Het |
| Rab19 |
T |
C |
6: 39,365,060 (GRCm39) |
S107P |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,140,088 (GRCm39) |
L439* |
probably null |
Het |
| Slc5a1 |
A |
G |
5: 33,303,860 (GRCm39) |
E225G |
possibly damaging |
Het |
| Slx4 |
A |
G |
16: 3,806,919 (GRCm39) |
V508A |
possibly damaging |
Het |
| Snx25 |
A |
G |
8: 46,521,266 (GRCm39) |
S373P |
possibly damaging |
Het |
| Tas2r107 |
A |
G |
6: 131,636,972 (GRCm39) |
Y26H |
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Zdhhc22 |
G |
A |
12: 87,034,997 (GRCm39) |
L152F |
probably benign |
Het |
| Zfpm2 |
T |
G |
15: 40,959,557 (GRCm39) |
M80R |
probably benign |
Het |
|
| Other mutations in Stag2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00547:Stag2
|
APN |
X |
41,335,892 (GRCm39) |
missense |
probably benign |
0.17 |
|
IGL02379:Stag2
|
APN |
X |
41,339,474 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02501:Stag2
|
APN |
X |
41,360,202 (GRCm39) |
splice site |
probably benign |
|
|
R0194:Stag2
|
UTSW |
X |
41,295,014 (GRCm39) |
splice site |
probably benign |
|
|
R4057:Stag2
|
UTSW |
X |
41,313,819 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Stag2
|
UTSW |
X |
41,322,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4467:Stag2
|
UTSW |
X |
41,322,749 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5007:Stag2
|
UTSW |
X |
41,355,130 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
Z1177:Stag2
|
UTSW |
X |
41,318,275 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAGTCATCTTTCATCTTGATACAC -3'
(R):5'- GATAGTGCTTGCATCAAACCAAG -3'
Sequencing Primer
(F):5'- CATCTTTCATCTTGATACACTGAACG -3'
(R):5'- GCTTGCATCAAACCAAGTAAATATTC -3'
|
| Posted On |
2017-12-01 |
Incidental Mutation