Incidental Mutation 'R8927:Stag1'
| ID |
679611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
068771-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8927 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100587298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 7
(P7Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000124487]
[ENSMUST00000129269]
[ENSMUST00000133388]
[ENSMUST00000138405]
[ENSMUST00000146312]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041418
AA Change: P7Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
276 |
1.5e-50 |
PFAM |
|
SCOP:d1qbkb_
|
279 |
850 |
4e-5 |
SMART |
|
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123302
AA Change: P7Q
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
276 |
2.9e-51 |
PFAM |
|
low complexity region
|
303 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000124487
AA Change: P7Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000123595
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129269
AA Change: P7Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
160 |
274 |
3.8e-41 |
PFAM |
|
SCOP:d1qbkb_
|
279 |
850 |
3e-5 |
SMART |
|
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000133388
AA Change: P7Q
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119637
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138405
AA Change: P7Q
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116322
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
276 |
1.5e-51 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000146312
AA Change: P7Q
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116597
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
99 |
196 |
4.2e-46 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155108
AA Change: P7Q
PolyPhen 2
Score 0.854 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286
AA Change: P7Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017B05Rik |
G |
A |
9: 57,165,805 (GRCm39) |
R190* |
probably null |
Het |
| Aldh7a1 |
A |
T |
18: 56,660,060 (GRCm39) |
S529T |
probably benign |
Het |
| Carmil2 |
T |
G |
8: 106,415,130 (GRCm39) |
Y214* |
probably null |
Het |
| Ccdc136 |
A |
G |
6: 29,406,109 (GRCm39) |
I152V |
probably damaging |
Het |
| Ccdc88c |
T |
C |
12: 100,932,676 (GRCm39) |
D285G |
possibly damaging |
Het |
| Clec4a3 |
T |
A |
6: 122,946,328 (GRCm39) |
F191I |
probably damaging |
Het |
| Dennd6b |
AGCTGGGGTCCCGC |
AGC |
15: 89,069,780 (GRCm39) |
|
probably null |
Het |
| Dlg5 |
A |
T |
14: 24,206,547 (GRCm39) |
S1222T |
|
Het |
| Dnaaf9 |
T |
A |
2: 130,579,300 (GRCm39) |
R777* |
probably null |
Het |
| Dnah14 |
T |
G |
1: 181,508,321 (GRCm39) |
L1833W |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,725,535 (GRCm39) |
W549R |
probably damaging |
Het |
| Ezh2 |
A |
T |
6: 47,510,713 (GRCm39) |
V632E |
possibly damaging |
Het |
| Fam83a |
G |
A |
15: 57,873,313 (GRCm39) |
V381M |
probably benign |
Het |
| Fmo2 |
T |
C |
1: 162,704,398 (GRCm39) |
T503A |
probably benign |
Het |
| Foxo1 |
T |
C |
3: 52,252,703 (GRCm39) |
F289L |
probably damaging |
Het |
| Gckr |
A |
G |
5: 31,456,903 (GRCm39) |
E96G |
probably damaging |
Het |
| Gm18596 |
G |
A |
10: 77,578,162 (GRCm39) |
A104V |
unknown |
Het |
| Gm21680 |
A |
T |
5: 26,176,347 (GRCm39) |
N83K |
probably damaging |
Het |
| Gnb5 |
T |
C |
9: 75,252,236 (GRCm39) |
V393A |
possibly damaging |
Het |
| Grin2b |
T |
G |
6: 135,749,339 (GRCm39) |
Q621P |
probably damaging |
Het |
| Gtsf2 |
T |
C |
15: 103,352,783 (GRCm39) |
I79V |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,105,055 (GRCm39) |
I1040V |
probably benign |
Het |
| Kif2b |
C |
T |
11: 91,468,023 (GRCm39) |
E87K |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,604,206 (GRCm39) |
G225S |
probably damaging |
Het |
| L3mbtl3 |
A |
T |
10: 26,220,084 (GRCm39) |
C94S |
unknown |
Het |
| Man2c1 |
T |
G |
9: 57,048,456 (GRCm39) |
Y872* |
probably null |
Het |
| Mical3 |
T |
A |
6: 120,984,325 (GRCm39) |
M832L |
probably benign |
Het |
| Mrc2 |
A |
G |
11: 105,216,334 (GRCm39) |
D41G |
probably benign |
Het |
| Nedd1 |
T |
A |
10: 92,558,258 (GRCm39) |
|
probably benign |
Het |
| Nicn1 |
C |
T |
9: 108,171,708 (GRCm39) |
R163C |
possibly damaging |
Het |
| Notch3 |
C |
T |
17: 32,372,792 (GRCm39) |
R593Q |
probably benign |
Het |
| Nxpe3 |
T |
G |
16: 55,669,997 (GRCm39) |
E369D |
possibly damaging |
Het |
| Obscn |
T |
A |
11: 58,977,695 (GRCm39) |
T1802S |
possibly damaging |
Het |
| Or1e33 |
A |
T |
11: 73,738,406 (GRCm39) |
F182I |
probably benign |
Het |
| Or2a7 |
T |
C |
6: 43,151,669 (GRCm39) |
F250L |
probably benign |
Het |
| Or4k51 |
A |
T |
2: 111,585,107 (GRCm39) |
H171L |
probably benign |
Het |
| Or9s14 |
A |
G |
1: 92,536,438 (GRCm39) |
N293S |
probably damaging |
Het |
| Oscar |
A |
C |
7: 3,614,747 (GRCm39) |
V75G |
probably benign |
Het |
| Pcdhb17 |
G |
A |
18: 37,620,372 (GRCm39) |
A721T |
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,614,659 (GRCm39) |
Y264C |
probably benign |
Het |
| Pear1 |
G |
T |
3: 87,661,890 (GRCm39) |
A495D |
probably damaging |
Het |
| Plekhf1 |
C |
A |
7: 37,920,998 (GRCm39) |
R190L |
probably damaging |
Het |
| Plppr5 |
T |
C |
3: 117,369,532 (GRCm39) |
V63A |
probably benign |
Het |
| Pyroxd1 |
T |
A |
6: 142,300,437 (GRCm39) |
F189Y |
probably damaging |
Het |
| Rab13 |
C |
T |
3: 90,128,120 (GRCm39) |
|
probably benign |
Het |
| Rptor |
C |
T |
11: 119,782,036 (GRCm39) |
T1121I |
probably benign |
Het |
| Scgb2b7 |
T |
C |
7: 31,404,602 (GRCm39) |
S33G |
probably benign |
Het |
| Slc25a36 |
A |
G |
9: 96,982,126 (GRCm39) |
|
probably null |
Het |
| Smtn |
T |
A |
11: 3,479,477 (GRCm39) |
H530L |
possibly damaging |
Het |
| Srrt |
C |
T |
5: 137,297,070 (GRCm39) |
C411Y |
probably benign |
Het |
| Tarm1 |
G |
A |
7: 3,537,719 (GRCm39) |
T248I |
possibly damaging |
Het |
| Tektl1 |
T |
C |
10: 78,588,258 (GRCm39) |
Y184C |
probably damaging |
Het |
| Trim6 |
C |
T |
7: 103,881,655 (GRCm39) |
A328V |
probably benign |
Het |
| Vmn1r189 |
T |
C |
13: 22,286,811 (GRCm39) |
I9V |
probably benign |
Het |
| Vmn2r93 |
A |
G |
17: 18,546,500 (GRCm39) |
T791A |
probably damaging |
Het |
| Vsig10l |
A |
G |
7: 43,116,020 (GRCm39) |
T454A |
probably benign |
Het |
|
| Other mutations in Stag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Stag1
|
APN |
9 |
100,658,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01010:Stag1
|
APN |
9 |
100,827,986 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01012:Stag1
|
APN |
9 |
100,737,912 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01025:Stag1
|
APN |
9 |
100,833,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01307:Stag1
|
APN |
9 |
100,833,841 (GRCm39) |
intron |
probably benign |
|
|
IGL02149:Stag1
|
APN |
9 |
100,769,442 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02608:Stag1
|
APN |
9 |
100,639,822 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL03008:Stag1
|
APN |
9 |
100,658,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Stag1
|
APN |
9 |
100,727,129 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
eto_o
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Stag1
|
UTSW |
9 |
100,824,769 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
|
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
|
R0349:Stag1
|
UTSW |
9 |
100,658,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0479:Stag1
|
UTSW |
9 |
100,810,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0531:Stag1
|
UTSW |
9 |
100,836,300 (GRCm39) |
makesense |
probably null |
|
|
R0962:Stag1
|
UTSW |
9 |
100,678,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Stag1
|
UTSW |
9 |
100,812,069 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0976:Stag1
|
UTSW |
9 |
100,658,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1170:Stag1
|
UTSW |
9 |
100,770,506 (GRCm39) |
intron |
probably benign |
|
|
R1499:Stag1
|
UTSW |
9 |
100,769,426 (GRCm39) |
intron |
probably benign |
|
|
R1499:Stag1
|
UTSW |
9 |
100,737,885 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1644:Stag1
|
UTSW |
9 |
100,762,953 (GRCm39) |
intron |
probably benign |
|
|
R1747:Stag1
|
UTSW |
9 |
100,770,353 (GRCm39) |
missense |
probably benign |
|
|
R1799:Stag1
|
UTSW |
9 |
100,835,515 (GRCm39) |
splice site |
probably null |
|
|
R1807:Stag1
|
UTSW |
9 |
100,790,719 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1978:Stag1
|
UTSW |
9 |
100,770,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2029:Stag1
|
UTSW |
9 |
100,668,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Stag1
|
UTSW |
9 |
100,771,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Stag1
|
UTSW |
9 |
100,594,553 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2327:Stag1
|
UTSW |
9 |
100,668,666 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2426:Stag1
|
UTSW |
9 |
100,727,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2448:Stag1
|
UTSW |
9 |
100,770,462 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2504:Stag1
|
UTSW |
9 |
100,748,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3713:Stag1
|
UTSW |
9 |
100,771,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3835:Stag1
|
UTSW |
9 |
100,620,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3862:Stag1
|
UTSW |
9 |
100,826,838 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4398:Stag1
|
UTSW |
9 |
100,838,659 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4568:Stag1
|
UTSW |
9 |
100,730,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Stag1
|
UTSW |
9 |
100,730,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Stag1
|
UTSW |
9 |
100,620,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4924:Stag1
|
UTSW |
9 |
100,678,808 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5018:Stag1
|
UTSW |
9 |
100,833,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5435:Stag1
|
UTSW |
9 |
100,835,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5460:Stag1
|
UTSW |
9 |
100,838,506 (GRCm39) |
splice site |
probably null |
|
|
R5805:Stag1
|
UTSW |
9 |
100,678,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Stag1
|
UTSW |
9 |
100,833,750 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6313:Stag1
|
UTSW |
9 |
100,639,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Stag1
|
UTSW |
9 |
100,769,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6807:Stag1
|
UTSW |
9 |
100,826,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7099:Stag1
|
UTSW |
9 |
100,826,879 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7167:Stag1
|
UTSW |
9 |
100,827,942 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7395:Stag1
|
UTSW |
9 |
100,678,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7504:Stag1
|
UTSW |
9 |
100,770,381 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7663:Stag1
|
UTSW |
9 |
100,620,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7769:Stag1
|
UTSW |
9 |
100,826,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8245:Stag1
|
UTSW |
9 |
100,811,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8343:Stag1
|
UTSW |
9 |
100,639,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8473:Stag1
|
UTSW |
9 |
100,762,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Stag1
|
UTSW |
9 |
100,772,975 (GRCm39) |
intron |
probably benign |
|
|
R8925:Stag1
|
UTSW |
9 |
100,587,298 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8951:Stag1
|
UTSW |
9 |
100,762,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Stag1
|
UTSW |
9 |
100,829,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9233:Stag1
|
UTSW |
9 |
100,812,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Stag1
|
UTSW |
9 |
100,770,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9419:Stag1
|
UTSW |
9 |
100,811,967 (GRCm39) |
missense |
probably benign |
|
|
R9442:Stag1
|
UTSW |
9 |
100,836,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Stag1
|
UTSW |
9 |
100,810,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9740:Stag1
|
UTSW |
9 |
100,587,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTAAAGGACTTCTTGGTTGATCCC -3'
(R):5'- CCTGACTTTAGCATCAGAAAACATGC -3'
Sequencing Primer
(F):5'- GTTGATCCCAACTTTGATCAGTTATG -3'
(R):5'- GCTGACATTTCAATAGCAAAGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation