Incidental Mutation 'IGL01012:Stag1'
| ID |
53761 |
| 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 # |
IGL01012
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100737912 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 423
(A423E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000138405]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
AA Change: A423E
PolyPhen 2
Score 0.280 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: A423E
| 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 |
noncoding transcript
Transcript: ENSMUST00000122824
|
| 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: A423E
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: A423E
| 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 benign
Transcript: ENSMUST00000138405
|
| SMART Domains |
Protein: ENSMUSP00000116322
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 |
1.5e-51 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146934
|
| SMART Domains |
Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
| 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 |
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
A |
T |
18: 61,972,772 (GRCm39) |
M249K |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,260,426 (GRCm39) |
F879S |
possibly damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,918,693 (GRCm39) |
E30G |
probably damaging |
Het |
| Aqp9 |
A |
G |
9: 71,037,831 (GRCm39) |
|
probably benign |
Het |
| Arhgap17 |
A |
T |
7: 122,885,791 (GRCm39) |
|
probably benign |
Het |
| Arhgef10 |
T |
C |
8: 15,029,977 (GRCm39) |
S921P |
probably damaging |
Het |
| Atp6v0e2 |
T |
C |
6: 48,514,749 (GRCm39) |
I22T |
probably damaging |
Het |
| AY074887 |
C |
T |
9: 54,857,963 (GRCm39) |
|
probably benign |
Het |
| Bcl2l15 |
T |
A |
3: 103,740,730 (GRCm39) |
D65E |
probably damaging |
Het |
| C2cd6 |
A |
T |
1: 59,036,507 (GRCm39) |
|
probably benign |
Het |
| Ccdc138 |
G |
A |
10: 58,376,737 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,904,838 (GRCm39) |
T159A |
possibly damaging |
Het |
| Ccser1 |
A |
G |
6: 61,615,474 (GRCm39) |
T659A |
probably benign |
Het |
| Cd300ld2 |
T |
A |
11: 114,903,123 (GRCm39) |
I241F |
probably benign |
Het |
| Cep192 |
T |
A |
18: 67,945,477 (GRCm39) |
N192K |
possibly damaging |
Het |
| Csmd1 |
T |
C |
8: 15,967,341 (GRCm39) |
K3174R |
probably benign |
Het |
| Dpy30 |
A |
T |
17: 74,614,749 (GRCm39) |
L65I |
probably damaging |
Het |
| Eci2 |
A |
T |
13: 35,174,312 (GRCm39) |
L83* |
probably null |
Het |
| F7 |
A |
T |
8: 13,083,409 (GRCm39) |
E183V |
probably damaging |
Het |
| Gabrg1 |
T |
C |
5: 70,935,512 (GRCm39) |
K214R |
probably benign |
Het |
| Galr2 |
A |
T |
11: 116,173,996 (GRCm39) |
T209S |
probably damaging |
Het |
| Gimap9 |
T |
C |
6: 48,654,851 (GRCm39) |
|
probably null |
Het |
| Gip |
C |
A |
11: 95,916,285 (GRCm39) |
F28L |
probably benign |
Het |
| Gpd2 |
A |
G |
2: 57,254,542 (GRCm39) |
N662S |
probably benign |
Het |
| Grik2 |
T |
G |
10: 49,149,052 (GRCm39) |
D511A |
probably damaging |
Het |
| Ift122 |
T |
A |
6: 115,876,452 (GRCm39) |
Y563N |
probably damaging |
Het |
| Ipo8 |
A |
G |
6: 148,690,561 (GRCm39) |
|
probably benign |
Het |
| Islr |
T |
C |
9: 58,064,511 (GRCm39) |
E332G |
probably damaging |
Het |
| Itgb7 |
G |
A |
15: 102,136,020 (GRCm39) |
S5L |
probably benign |
Het |
| Itpr2 |
G |
A |
6: 146,246,659 (GRCm39) |
R1087W |
probably damaging |
Het |
| Katnal2 |
C |
A |
18: 77,105,250 (GRCm39) |
V66F |
probably damaging |
Het |
| Krt81 |
T |
C |
15: 101,358,900 (GRCm39) |
D284G |
probably benign |
Het |
| Krtap4-8 |
T |
A |
11: 99,670,831 (GRCm39) |
|
probably benign |
Het |
| Map1s |
C |
A |
8: 71,366,554 (GRCm39) |
N486K |
probably benign |
Het |
| Med13l |
G |
A |
5: 118,872,093 (GRCm39) |
D842N |
probably damaging |
Het |
| Mef2c |
T |
A |
13: 83,803,714 (GRCm39) |
M306K |
probably damaging |
Het |
| Myb |
C |
T |
10: 21,022,159 (GRCm39) |
V377I |
probably benign |
Het |
| Myocd |
C |
T |
11: 65,075,451 (GRCm39) |
G558R |
possibly damaging |
Het |
| Nars1 |
G |
T |
18: 64,638,039 (GRCm39) |
A305E |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,086,373 (GRCm39) |
N5233K |
probably benign |
Het |
| Nipsnap2 |
T |
C |
5: 129,823,503 (GRCm39) |
I181T |
possibly damaging |
Het |
| Or10d4b |
A |
T |
9: 39,534,661 (GRCm39) |
M81L |
probably benign |
Het |
| Or1s2 |
T |
C |
19: 13,758,937 (GRCm39) |
|
probably benign |
Het |
| P3h2 |
A |
C |
16: 25,805,998 (GRCm39) |
C282G |
probably damaging |
Het |
| Pcgf5 |
T |
A |
19: 36,420,268 (GRCm39) |
C167S |
probably damaging |
Het |
| Pck2 |
T |
C |
14: 55,781,526 (GRCm39) |
|
probably benign |
Het |
| Peli2 |
C |
T |
14: 48,490,187 (GRCm39) |
R169* |
probably null |
Het |
| Pramel16 |
T |
A |
4: 143,676,784 (GRCm39) |
|
probably benign |
Het |
| Psme3ip1 |
G |
A |
8: 95,313,990 (GRCm39) |
R104W |
probably damaging |
Het |
| Ralgapa2 |
T |
A |
2: 146,263,659 (GRCm39) |
Q686L |
possibly damaging |
Het |
| Scap |
C |
A |
9: 110,191,488 (GRCm39) |
P50H |
probably damaging |
Het |
| Sh3rf2 |
T |
A |
18: 42,187,257 (GRCm39) |
D125E |
possibly damaging |
Het |
| Slc25a38 |
T |
C |
9: 119,945,560 (GRCm39) |
|
probably benign |
Het |
| Slc35a5 |
A |
G |
16: 44,964,195 (GRCm39) |
V346A |
probably damaging |
Het |
| Smad4 |
T |
A |
18: 73,808,880 (GRCm39) |
N129I |
probably damaging |
Het |
| Sod2 |
C |
T |
17: 13,232,464 (GRCm39) |
A163V |
possibly damaging |
Het |
| Spred3 |
T |
A |
7: 28,860,948 (GRCm39) |
|
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,800,196 (GRCm39) |
S261T |
probably benign |
Het |
| Stx3 |
T |
C |
19: 11,769,152 (GRCm39) |
K58E |
probably damaging |
Het |
| Timm10b |
C |
A |
7: 105,290,345 (GRCm39) |
Y79* |
probably null |
Het |
| Tmem204 |
T |
C |
17: 25,289,329 (GRCm39) |
D97G |
probably damaging |
Het |
| Tnfrsf25 |
T |
C |
4: 152,202,885 (GRCm39) |
V181A |
probably benign |
Het |
| Trim54 |
T |
G |
5: 31,294,302 (GRCm39) |
S313A |
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,078,714 (GRCm39) |
D1433E |
probably damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,706,555 (GRCm39) |
T462A |
probably benign |
Het |
| Wdr27 |
T |
A |
17: 15,146,509 (GRCm39) |
H162L |
probably damaging |
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 |
|
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 |
|
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 |
2013-06-28 |
Incidental Mutation