Incidental Mutation 'R1499:Stag1'
| ID |
168704 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
039550-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1499 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
A to T
at 100769426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118952
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
|
| SMART Domains |
Protein: ENSMUSP00000040724
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-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
|
| SMART Domains |
Protein: ENSMUSP00000116205
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
|
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 |
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.4%
|
| Validation Efficiency |
99% (83/84) |
| 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: 80 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
A |
11: 110,030,458 (GRCm39) |
Y763F |
probably benign |
Het |
| Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
| Actl11 |
A |
G |
9: 107,808,682 (GRCm39) |
T1002A |
probably damaging |
Het |
| Ampd1 |
T |
A |
3: 102,998,980 (GRCm39) |
N378K |
probably damaging |
Het |
| Arhgap42 |
A |
G |
9: 9,033,587 (GRCm39) |
|
probably benign |
Het |
| Arhgap6 |
C |
A |
X: 167,579,499 (GRCm39) |
P95T |
possibly damaging |
Het |
| Atg14 |
T |
C |
14: 47,798,102 (GRCm39) |
N87S |
probably benign |
Het |
| Atp9b |
C |
T |
18: 80,805,353 (GRCm39) |
C735Y |
probably damaging |
Het |
| Atp9b |
T |
A |
18: 80,822,122 (GRCm39) |
T110S |
probably benign |
Het |
| Birc6 |
T |
G |
17: 74,919,314 (GRCm39) |
L221R |
probably damaging |
Het |
| Ces1c |
A |
G |
8: 93,854,233 (GRCm39) |
F101L |
probably benign |
Het |
| Cfap91 |
A |
G |
16: 38,141,762 (GRCm39) |
V390A |
probably damaging |
Het |
| Chsy1 |
T |
C |
7: 65,821,750 (GRCm39) |
Y662H |
probably damaging |
Het |
| Cldn12 |
A |
T |
5: 5,557,900 (GRCm39) |
F176I |
probably benign |
Het |
| Col5a2 |
A |
G |
1: 45,450,626 (GRCm39) |
S374P |
probably benign |
Het |
| Col6a2 |
A |
T |
10: 76,439,544 (GRCm39) |
V740E |
probably damaging |
Het |
| Cpne3 |
A |
T |
4: 19,526,336 (GRCm39) |
I401K |
probably damaging |
Het |
| Cspp1 |
T |
A |
1: 10,159,191 (GRCm39) |
|
probably null |
Het |
| Ddn |
G |
A |
15: 98,704,647 (GRCm39) |
T215I |
possibly damaging |
Het |
| Dync1i1 |
T |
C |
6: 5,769,799 (GRCm39) |
|
probably benign |
Het |
| Dync2li1 |
T |
C |
17: 84,954,667 (GRCm39) |
|
probably benign |
Het |
| Eif2a |
T |
A |
3: 58,445,005 (GRCm39) |
L50* |
probably null |
Het |
| Elavl3 |
G |
A |
9: 21,929,875 (GRCm39) |
A343V |
probably damaging |
Het |
| Fastkd1 |
T |
C |
2: 69,538,982 (GRCm39) |
|
probably null |
Het |
| Fgf8 |
C |
A |
19: 45,730,786 (GRCm39) |
V80F |
possibly damaging |
Het |
| Fras1 |
A |
T |
5: 96,891,046 (GRCm39) |
E2858D |
probably benign |
Het |
| Fshr |
A |
T |
17: 89,293,529 (GRCm39) |
L383Q |
probably damaging |
Het |
| Glb1 |
A |
G |
9: 114,246,171 (GRCm39) |
K74R |
probably benign |
Het |
| Gmeb2 |
T |
G |
2: 180,897,019 (GRCm39) |
M290L |
probably benign |
Het |
| Gnptg |
A |
G |
17: 25,454,828 (GRCm39) |
|
probably null |
Het |
| Grik2 |
A |
C |
10: 49,008,871 (GRCm39) |
S739A |
probably damaging |
Het |
| Grk2 |
T |
A |
19: 4,337,222 (GRCm39) |
Q659L |
probably benign |
Het |
| Hdhd5 |
A |
G |
6: 120,491,473 (GRCm39) |
V210A |
probably damaging |
Het |
| Hyal1 |
C |
T |
9: 107,455,091 (GRCm39) |
L134F |
probably damaging |
Het |
| Itgb2 |
A |
T |
10: 77,381,987 (GRCm39) |
K18N |
possibly damaging |
Het |
| Jam3 |
A |
T |
9: 27,017,701 (GRCm39) |
I29K |
possibly damaging |
Het |
| Kcnh3 |
C |
A |
15: 99,137,796 (GRCm39) |
D830E |
probably benign |
Het |
| Kcnmb4 |
T |
C |
10: 116,309,203 (GRCm39) |
D75G |
possibly damaging |
Het |
| Kdm4b |
A |
G |
17: 56,707,025 (GRCm39) |
Y981C |
probably damaging |
Het |
| Klk1b26 |
C |
A |
7: 43,665,810 (GRCm39) |
D207E |
probably benign |
Het |
| Kmt2a |
G |
T |
9: 44,759,563 (GRCm39) |
T762N |
probably benign |
Het |
| Kmt2d |
A |
G |
15: 98,742,819 (GRCm39) |
|
probably benign |
Het |
| Lama4 |
T |
C |
10: 38,964,876 (GRCm39) |
S1414P |
possibly damaging |
Het |
| Lce1f |
C |
G |
3: 92,626,276 (GRCm39) |
C127S |
unknown |
Het |
| Map7d1 |
A |
G |
4: 126,128,558 (GRCm39) |
|
probably null |
Het |
| Ninl |
T |
C |
2: 150,822,096 (GRCm39) |
D2G |
possibly damaging |
Het |
| Or2w1b |
T |
A |
13: 21,300,303 (GRCm39) |
M147K |
probably benign |
Het |
| Or5k3 |
A |
G |
16: 58,969,287 (GRCm39) |
T25A |
probably benign |
Het |
| Or5m11b |
C |
T |
2: 85,806,372 (GRCm39) |
P262S |
possibly damaging |
Het |
| Or6n1 |
T |
A |
1: 173,916,813 (GRCm39) |
L69* |
probably null |
Het |
| Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
| Pax8 |
A |
G |
2: 24,319,608 (GRCm39) |
Y381H |
possibly damaging |
Het |
| Pde7a |
T |
C |
3: 19,314,408 (GRCm39) |
I63V |
possibly damaging |
Het |
| Pgm3 |
A |
T |
9: 86,452,340 (GRCm39) |
F40Y |
probably benign |
Het |
| Phrf1 |
G |
T |
7: 140,836,564 (GRCm39) |
D78Y |
probably damaging |
Het |
| Plekhg1 |
C |
T |
10: 3,890,538 (GRCm39) |
|
probably benign |
Het |
| Prss59 |
A |
T |
6: 40,898,652 (GRCm39) |
S199T |
probably benign |
Het |
| Pum1 |
T |
C |
4: 130,446,567 (GRCm39) |
S209P |
probably damaging |
Het |
| Qtrt2 |
A |
T |
16: 43,689,337 (GRCm39) |
F220L |
probably benign |
Het |
| Rgs9 |
A |
G |
11: 109,159,747 (GRCm39) |
|
probably null |
Het |
| Rin3 |
A |
G |
12: 102,335,018 (GRCm39) |
T230A |
unknown |
Het |
| Ros1 |
A |
T |
10: 51,974,773 (GRCm39) |
V1604E |
possibly damaging |
Het |
| Rpp14 |
A |
G |
14: 8,090,528 (GRCm38) |
M151V |
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,153 (GRCm39) |
F4400I |
possibly damaging |
Het |
| Scamp1 |
C |
T |
13: 94,361,437 (GRCm39) |
V148I |
probably benign |
Het |
| Slc13a5 |
A |
G |
11: 72,141,557 (GRCm39) |
C428R |
probably damaging |
Het |
| Slc43a2 |
T |
G |
11: 75,453,733 (GRCm39) |
|
probably null |
Het |
| Smarcc2 |
T |
A |
10: 128,299,741 (GRCm39) |
N135K |
probably damaging |
Het |
| Snx15 |
G |
C |
19: 6,172,094 (GRCm39) |
S116R |
probably damaging |
Het |
| Tmem106a |
T |
A |
11: 101,481,263 (GRCm39) |
L257Q |
possibly damaging |
Het |
| Tnc |
C |
T |
4: 63,882,991 (GRCm39) |
D1968N |
probably benign |
Het |
| Trim42 |
A |
G |
9: 97,248,138 (GRCm39) |
L186P |
possibly damaging |
Het |
| Tshb |
T |
A |
3: 102,685,624 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
A |
2: 76,584,484 (GRCm39) |
D13881V |
probably damaging |
Het |
| Uqcrc2 |
T |
C |
7: 120,239,506 (GRCm39) |
V56A |
probably benign |
Het |
| Uty |
G |
A |
Y: 1,197,228 (GRCm39) |
T113I |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,864,787 (GRCm39) |
E3032G |
probably benign |
Het |
| Wfdc9 |
T |
G |
2: 164,493,729 (GRCm39) |
|
probably benign |
Het |
| Zc3h7a |
G |
A |
16: 10,980,520 (GRCm39) |
T31I |
probably damaging |
Het |
| Zfp462 |
T |
C |
4: 55,060,046 (GRCm39) |
S1191P |
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 |
|
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 |
100,737,885 (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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTATTCTagcaagttctaagacaaccagg -3'
(R):5'- GCATGAAAGCAAACTCAAGGACATATTATCAC -3'
Sequencing Primer
(F):5'- accagggctattcagagaaac -3'
(R):5'- CATTGGCAGATGACATACCAAG -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation