Incidental Mutation 'IGL01025:Stag1'
| ID |
60127 |
| 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 # |
IGL01025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100833710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 1108
(T1108A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
AA Change: T1108A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: T1108A
| 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
|
| SMART Domains |
Protein: ENSMUSP00000117879
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
|
157 |
276 |
2.9e-51 |
PFAM |
|
low complexity region
|
303 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129269
AA Change: T1108A
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: T1108A
| 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 |
unknown
Transcript: ENSMUST00000143955
AA Change: T277A
|
| SMART Domains |
Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286
AA Change: T277A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000146934
AA Change: T718A
|
| SMART Domains |
Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: T718A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149771
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191345
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
A |
4: 155,986,676 (GRCm39) |
V335M |
probably damaging |
Het |
| Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
| Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
| Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
| Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
| Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
| Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
| Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
| Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
| Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
| Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
| Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
| Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
| Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
| Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
| Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
| Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
| Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
| Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,255 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
| Sugp2 |
G |
A |
8: 70,695,185 (GRCm39) |
D53N |
probably damaging |
Het |
| Trim33 |
G |
A |
3: 103,261,234 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,918,075 (GRCm39) |
D57G |
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 |
|
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 |
|
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 |
2013-07-11 |
Incidental Mutation