Incidental Mutation 'R9694:Stag1'
| ID |
735958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100810151 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 785
(T785A)
|
| 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: T785A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: T785A
| 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 |
probably benign
Transcript: ENSMUST00000129269
AA Change: T785A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: T785A
| 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: ENSMUST00000143955
|
| SMART Domains |
Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: T395A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
| 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 |
- 1x: 99.8%
- 3x: 99.7%
- 10x: 99.3%
- 20x: 98.7%
|
| 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: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,899,573 (GRCm39) |
Y948N |
probably damaging |
Het |
| Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
| Adamts4 |
T |
C |
1: 171,081,530 (GRCm39) |
S395P |
probably benign |
Het |
| Adcy1 |
T |
C |
11: 7,094,774 (GRCm39) |
Y567H |
probably damaging |
Het |
| Agap3 |
A |
G |
5: 24,682,139 (GRCm39) |
N212D |
probably benign |
Het |
| Atp2a2 |
A |
G |
5: 122,597,708 (GRCm39) |
F775S |
probably damaging |
Het |
| Baz1b |
A |
T |
5: 135,273,094 (GRCm39) |
Q1406L |
probably benign |
Het |
| C030006K11Rik |
A |
T |
15: 76,607,928 (GRCm39) |
V30D |
possibly damaging |
Het |
| Cep170b |
T |
A |
12: 112,701,993 (GRCm39) |
V262E |
probably damaging |
Het |
| Cgnl1 |
C |
T |
9: 71,632,803 (GRCm39) |
G183R |
probably benign |
Het |
| Chd8 |
A |
G |
14: 52,441,341 (GRCm39) |
I2257T |
possibly damaging |
Het |
| Chrna7 |
A |
G |
7: 62,754,809 (GRCm39) |
I266T |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,923,685 (GRCm39) |
Y319* |
probably null |
Het |
| Dcdc2a |
A |
T |
13: 25,286,340 (GRCm39) |
I125F |
probably benign |
Het |
| Dcdc2c |
A |
T |
12: 28,585,553 (GRCm39) |
I80N |
|
Het |
| Dmtn |
T |
C |
14: 70,852,732 (GRCm39) |
|
probably null |
Het |
| Dock2 |
T |
C |
11: 34,218,054 (GRCm39) |
N1172S |
probably benign |
Het |
| Dock9 |
A |
G |
14: 121,818,791 (GRCm39) |
S1564P |
probably damaging |
Het |
| Ecel1 |
T |
C |
1: 87,080,853 (GRCm39) |
I350V |
possibly damaging |
Het |
| Eif4enif1 |
C |
T |
11: 3,170,384 (GRCm39) |
L146F |
probably damaging |
Het |
| Ergic1 |
T |
G |
17: 26,843,585 (GRCm39) |
D59E |
probably benign |
Het |
| F2rl2 |
A |
T |
13: 95,838,050 (GRCm39) |
D365V |
possibly damaging |
Het |
| Fbxl16 |
C |
T |
17: 26,036,813 (GRCm39) |
Q265* |
probably null |
Het |
| Fbxw26 |
T |
C |
9: 109,575,135 (GRCm39) |
|
probably benign |
Het |
| Fras1 |
A |
T |
5: 96,929,545 (GRCm39) |
Y3983F |
probably benign |
Het |
| G6pd2 |
T |
A |
5: 61,966,460 (GRCm39) |
D78E |
probably benign |
Het |
| Gas2l2 |
A |
C |
11: 83,314,170 (GRCm39) |
S381A |
possibly damaging |
Het |
| Gm57858 |
A |
G |
3: 36,073,092 (GRCm39) |
S397P |
possibly damaging |
Het |
| Grk2 |
G |
A |
19: 4,338,511 (GRCm39) |
R474C |
probably damaging |
Het |
| Gxylt2 |
T |
A |
6: 100,710,174 (GRCm39) |
V105E |
probably benign |
Het |
| Hexd |
T |
C |
11: 121,107,813 (GRCm39) |
V181A |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,691 (GRCm39) |
T274A |
probably benign |
Het |
| Ik |
T |
A |
18: 36,877,840 (GRCm39) |
D5E |
probably benign |
Het |
| Ilkap |
A |
G |
1: 91,303,973 (GRCm39) |
C163R |
|
Het |
| Itpr3 |
C |
T |
17: 27,334,927 (GRCm39) |
T2147I |
probably damaging |
Het |
| Kif1a |
A |
T |
1: 92,950,173 (GRCm39) |
V1418E |
probably benign |
Het |
| Kif26b |
T |
C |
1: 178,743,815 (GRCm39) |
C1304R |
probably benign |
Het |
| Lmna |
CAGCACGGTGCGTGAGC |
CAGC |
3: 88,389,857 (GRCm39) |
|
probably null |
Het |
| Lvrn |
A |
T |
18: 47,033,609 (GRCm39) |
D940V |
probably damaging |
Het |
| Mill1 |
G |
A |
7: 17,997,027 (GRCm39) |
R206H |
probably benign |
Het |
| Mrgpra1 |
A |
T |
7: 46,985,268 (GRCm39) |
L137Q |
probably damaging |
Het |
| Npc2 |
C |
A |
12: 84,807,638 (GRCm39) |
L73F |
probably benign |
Het |
| Or11g26 |
A |
G |
14: 50,752,669 (GRCm39) |
T3A |
probably benign |
Het |
| Or52i2 |
A |
T |
7: 102,320,011 (GRCm39) |
I295F |
possibly damaging |
Het |
| Or5al1 |
T |
C |
2: 85,990,681 (GRCm39) |
E11G |
probably benign |
Het |
| Or5b97 |
A |
T |
19: 12,879,021 (GRCm39) |
V41E |
probably damaging |
Het |
| Or5j3 |
T |
C |
2: 86,128,718 (GRCm39) |
I186T |
probably benign |
Het |
| Osbpl1a |
T |
C |
18: 12,952,565 (GRCm39) |
H533R |
probably benign |
Het |
| Pax7 |
G |
A |
4: 139,556,819 (GRCm39) |
T147M |
probably benign |
Het |
| Pdik1l |
A |
T |
4: 134,006,711 (GRCm39) |
S143T |
unknown |
Het |
| Prkg1 |
T |
G |
19: 30,764,371 (GRCm39) |
T255P |
possibly damaging |
Het |
| Prmt2 |
A |
T |
10: 76,061,213 (GRCm39) |
I91N |
probably damaging |
Het |
| Ptprm |
A |
G |
17: 67,116,484 (GRCm39) |
Y932H |
probably damaging |
Het |
| Ptprz1 |
A |
T |
6: 22,959,694 (GRCm39) |
I64F |
probably damaging |
Het |
| Qrich2 |
T |
C |
11: 116,337,946 (GRCm39) |
K154R |
probably damaging |
Het |
| Rab8b |
T |
C |
9: 66,826,824 (GRCm39) |
D31G |
probably benign |
Het |
| Radil |
A |
G |
5: 142,473,378 (GRCm39) |
S768P |
probably damaging |
Het |
| Rbm5 |
A |
T |
9: 107,622,152 (GRCm39) |
D607E |
probably benign |
Het |
| Reep6 |
T |
A |
10: 80,169,393 (GRCm39) |
V131E |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,832,099 (GRCm39) |
I23F |
probably damaging |
Het |
| Rubcn |
A |
T |
16: 32,663,481 (GRCm39) |
V385D |
probably benign |
Het |
| Sall2 |
C |
T |
14: 52,552,124 (GRCm39) |
G357D |
possibly damaging |
Het |
| Slc12a6 |
T |
A |
2: 112,174,881 (GRCm39) |
L547H |
probably damaging |
Het |
| Slc16a6 |
T |
C |
11: 109,354,322 (GRCm39) |
T100A |
probably benign |
Het |
| Sptbn2 |
T |
C |
19: 4,800,535 (GRCm39) |
L2250P |
probably damaging |
Het |
| Stab1 |
C |
T |
14: 30,876,901 (GRCm39) |
A808T |
probably benign |
Het |
| Stambpl1 |
T |
G |
19: 34,211,535 (GRCm39) |
S199A |
probably benign |
Het |
| Styxl2 |
A |
T |
1: 165,928,654 (GRCm39) |
S319R |
probably damaging |
Het |
| Supt20 |
C |
T |
3: 54,623,015 (GRCm39) |
S496L |
probably benign |
Het |
| Tanc1 |
T |
C |
2: 59,626,196 (GRCm39) |
F518L |
probably damaging |
Het |
| Tdpoz3 |
T |
A |
3: 93,734,156 (GRCm39) |
V277D |
probably benign |
Het |
| Unc45a |
A |
C |
7: 79,975,403 (GRCm39) |
Y934D |
probably damaging |
Het |
| Vmn1r192 |
G |
A |
13: 22,372,119 (GRCm39) |
P34S |
probably benign |
Het |
| Wipf3 |
T |
C |
6: 54,466,004 (GRCm39) |
S421P |
possibly damaging |
Het |
| Zfp296 |
A |
G |
7: 19,314,227 (GRCm39) |
K361E |
possibly damaging |
Het |
| Zfp882 |
T |
A |
8: 72,667,915 (GRCm39) |
N247K |
probably benign |
Het |
| Zfpm2 |
A |
G |
15: 40,965,710 (GRCm39) |
T732A |
possibly 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 |
|
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 |
|
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 |
|
R9740:Stag1
|
UTSW |
9 |
100,587,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAAATAACTGTACTAATTGGTTCCC -3'
(R):5'- TGAGAAGTCAATGCAAGTTATAGTC -3'
Sequencing Primer
(F):5'- TCCCAATAATGAGTTTAATTCTCTGG -3'
(R):5'- GGTGGCTCACAACCATCTGTAATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation