Incidental Mutation 'IGL03008:Stag1'
| ID |
407669 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL03008
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100658844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 144
(N144Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119637
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000133388]
[ENSMUST00000138405]
[ENSMUST00000146312]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000041418
AA Change: N144Y
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: N144Y
| 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: N144Y
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286
AA Change: N144Y
| 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 |
probably benign
Transcript: ENSMUST00000129269
AA Change: N144Y
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: N144Y
| 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 |
probably damaging
Transcript: ENSMUST00000133388
AA Change: N144Y
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000119637
Gene: ENSMUSG00000037286
AA Change: N144Y
| 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: N144Y
PolyPhen 2
Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000116322
Gene: ENSMUSG00000037286
AA Change: N144Y
| 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 |
probably benign
Transcript: ENSMUST00000146312
|
| SMART Domains |
Protein: ENSMUSP00000116597
Gene: ENSMUSG00000037286
| 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 |
probably benign
Transcript: ENSMUST00000155108
|
| SMART Domains |
Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286
| 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 |
|
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aga |
T |
C |
8: 53,964,861 (GRCm39) |
S8P |
probably benign |
Het |
| Ankrd34c |
C |
T |
9: 89,612,337 (GRCm39) |
M1I |
probably null |
Het |
| Ankrd44 |
T |
C |
1: 54,805,968 (GRCm39) |
H146R |
probably damaging |
Het |
| Bst1 |
A |
G |
5: 43,983,604 (GRCm39) |
|
probably null |
Het |
| Btbd8 |
T |
G |
5: 107,639,464 (GRCm39) |
|
probably null |
Het |
| Cdh12 |
A |
T |
15: 21,480,416 (GRCm39) |
I211F |
probably damaging |
Het |
| Cenpj |
G |
T |
14: 56,764,406 (GRCm39) |
D1335E |
probably benign |
Het |
| Clpx |
G |
A |
9: 65,230,057 (GRCm39) |
V502I |
possibly damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,500,222 (GRCm39) |
S505P |
probably benign |
Het |
| Cog2 |
T |
C |
8: 125,262,131 (GRCm39) |
|
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,233,601 (GRCm39) |
Q819R |
probably benign |
Het |
| Cspg4 |
A |
G |
9: 56,805,759 (GRCm39) |
E2190G |
possibly damaging |
Het |
| Ctsa |
G |
A |
2: 164,679,368 (GRCm39) |
R359Q |
probably damaging |
Het |
| Cul9 |
A |
G |
17: 46,813,623 (GRCm39) |
|
probably benign |
Het |
| Dab1 |
G |
T |
4: 104,584,777 (GRCm39) |
V306F |
probably damaging |
Het |
| Dysf |
A |
G |
6: 84,050,876 (GRCm39) |
I438V |
probably benign |
Het |
| Eif4g3 |
G |
T |
4: 137,847,699 (GRCm39) |
G380W |
probably damaging |
Het |
| Exd1 |
T |
A |
2: 119,350,862 (GRCm39) |
K466N |
probably benign |
Het |
| Eya3 |
A |
C |
4: 132,434,294 (GRCm39) |
D325A |
probably damaging |
Het |
| Fmn1 |
A |
G |
2: 113,195,445 (GRCm39) |
T382A |
unknown |
Het |
| Fry |
T |
A |
5: 150,269,021 (GRCm39) |
D106E |
possibly damaging |
Het |
| Gm21957 |
T |
A |
7: 124,818,733 (GRCm39) |
|
noncoding transcript |
Het |
| Gm44511 |
A |
G |
6: 128,761,059 (GRCm39) |
|
probably benign |
Het |
| Itga4 |
A |
G |
2: 79,155,982 (GRCm39) |
I983V |
probably benign |
Het |
| Lrpprc |
A |
T |
17: 85,058,675 (GRCm39) |
D5E |
probably benign |
Het |
| Lrrc37 |
T |
C |
11: 103,511,293 (GRCm39) |
E225G |
unknown |
Het |
| Ltbp4 |
G |
T |
7: 27,023,789 (GRCm39) |
N747K |
probably damaging |
Het |
| Minar1 |
A |
G |
9: 89,478,731 (GRCm39) |
Y772H |
probably damaging |
Het |
| Mlh3 |
T |
C |
12: 85,287,625 (GRCm39) |
Q1308R |
probably benign |
Het |
| Mtfr2 |
T |
A |
10: 20,229,185 (GRCm39) |
C63S |
possibly damaging |
Het |
| Myh11 |
T |
A |
16: 14,022,617 (GRCm39) |
M1661L |
probably benign |
Het |
| Myo1c |
T |
C |
11: 75,549,240 (GRCm39) |
M137T |
probably benign |
Het |
| Myocd |
A |
C |
11: 65,078,392 (GRCm39) |
L340V |
probably damaging |
Het |
| Napsa |
A |
T |
7: 44,235,220 (GRCm39) |
Q335L |
possibly damaging |
Het |
| Nlrp4b |
C |
A |
7: 10,448,516 (GRCm39) |
Q240K |
probably benign |
Het |
| Npepps |
A |
C |
11: 97,128,984 (GRCm39) |
F400C |
probably damaging |
Het |
| Nxpe4 |
A |
T |
9: 48,304,738 (GRCm39) |
E275V |
probably benign |
Het |
| Ofd1 |
T |
C |
X: 165,192,530 (GRCm39) |
D501G |
probably benign |
Het |
| Or13a19 |
T |
C |
7: 139,903,445 (GRCm39) |
Y278H |
probably damaging |
Het |
| Or4f6 |
A |
G |
2: 111,838,868 (GRCm39) |
I221T |
possibly damaging |
Het |
| Or5p79 |
T |
G |
7: 108,221,490 (GRCm39) |
L157R |
probably damaging |
Het |
| Or8k41 |
A |
T |
2: 86,313,678 (GRCm39) |
M136K |
probably damaging |
Het |
| P2ry1 |
A |
T |
3: 60,910,947 (GRCm39) |
T29S |
probably benign |
Het |
| Papss1 |
T |
C |
3: 131,290,860 (GRCm39) |
V201A |
possibly damaging |
Het |
| Paxip1 |
A |
G |
5: 27,957,764 (GRCm39) |
V864A |
probably benign |
Het |
| Pcdhgc5 |
T |
A |
18: 37,954,887 (GRCm39) |
H720Q |
probably benign |
Het |
| Pdxdc1 |
T |
C |
16: 13,694,023 (GRCm39) |
N133S |
possibly damaging |
Het |
| Prkar1a |
T |
C |
11: 109,544,690 (GRCm39) |
I27T |
probably damaging |
Het |
| Rnf10 |
G |
T |
5: 115,389,355 (GRCm39) |
H271N |
possibly damaging |
Het |
| Scn9a |
A |
G |
2: 66,392,855 (GRCm39) |
S246P |
probably damaging |
Het |
| Sertad2 |
G |
T |
11: 20,597,798 (GRCm39) |
|
probably benign |
Het |
| Slc22a27 |
A |
G |
19: 7,887,067 (GRCm39) |
I274T |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,782,058 (GRCm39) |
V103E |
probably damaging |
Het |
| Slc5a9 |
A |
T |
4: 111,748,138 (GRCm39) |
F225I |
probably benign |
Het |
| Slc6a3 |
G |
A |
13: 73,706,404 (GRCm39) |
|
probably null |
Het |
| Smcr8 |
A |
G |
11: 60,669,287 (GRCm39) |
E145G |
probably damaging |
Het |
| Spen |
A |
T |
4: 141,203,448 (GRCm39) |
D1726E |
possibly damaging |
Het |
| Sphkap |
A |
T |
1: 83,254,552 (GRCm39) |
S779T |
probably damaging |
Het |
| Strada |
T |
C |
11: 106,061,783 (GRCm39) |
H156R |
probably damaging |
Het |
| Stxbp2 |
A |
T |
8: 3,691,971 (GRCm39) |
I538F |
probably benign |
Het |
| Tas2r138 |
A |
C |
6: 40,590,116 (GRCm39) |
D43E |
probably damaging |
Het |
| Tdpoz3 |
A |
T |
3: 93,733,642 (GRCm39) |
K106* |
probably null |
Het |
| Trbv13-1 |
A |
G |
6: 41,093,229 (GRCm39) |
D54G |
probably damaging |
Het |
| Ttc39b |
A |
G |
4: 83,165,932 (GRCm39) |
V218A |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,611,203 (GRCm39) |
T15697I |
probably damaging |
Het |
| Ugt2b38 |
G |
A |
5: 87,560,282 (GRCm39) |
T344I |
probably benign |
Het |
| Vmn2r94 |
T |
C |
17: 18,477,908 (GRCm39) |
M168V |
probably benign |
Het |
| Wdr11 |
T |
C |
7: 129,208,715 (GRCm39) |
|
probably benign |
Het |
| Wipf2 |
T |
C |
11: 98,783,554 (GRCm39) |
|
probably benign |
Het |
| Zranb2 |
T |
A |
3: 157,252,302 (GRCm39) |
|
probably null |
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 |
|
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 |
|
R8927: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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation