Incidental Mutation 'R7099:Stag1'
| ID |
550711 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
045191-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7099 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 100826879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 949
(V949I)
|
| 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: V949I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: V949I
| 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: V949I
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: V949I
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286
AA Change: V118I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: V559I
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (65/65) |
| 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 |
|---|
| 4930453N24Rik |
C |
T |
16: 64,591,151 (GRCm39) |
A26T |
probably benign |
Het |
| Acly |
T |
C |
11: 100,383,117 (GRCm39) |
|
probably null |
Het |
| Adam29 |
A |
C |
8: 56,324,439 (GRCm39) |
L672V |
probably benign |
Het |
| Adgrf1 |
T |
C |
17: 43,621,493 (GRCm39) |
S577P |
probably benign |
Het |
| Ankar |
T |
C |
1: 72,682,452 (GRCm39) |
K1371R |
probably damaging |
Het |
| Arid5b |
T |
C |
10: 67,934,009 (GRCm39) |
D631G |
probably damaging |
Het |
| Brpf3 |
T |
C |
17: 29,025,611 (GRCm39) |
V228A |
probably benign |
Het |
| C3 |
T |
C |
17: 57,513,276 (GRCm39) |
D1457G |
probably benign |
Het |
| Calr4 |
A |
T |
4: 109,099,426 (GRCm39) |
N143I |
probably benign |
Het |
| Catsperd |
T |
G |
17: 56,935,811 (GRCm39) |
|
probably null |
Het |
| Cobl |
T |
A |
11: 12,246,540 (GRCm39) |
H154L |
|
Het |
| Cryzl2 |
G |
A |
1: 157,316,154 (GRCm39) |
|
probably benign |
Het |
| Dennd1c |
A |
G |
17: 57,374,915 (GRCm39) |
|
probably null |
Het |
| Dnah8 |
A |
T |
17: 30,923,698 (GRCm39) |
D1222V |
possibly damaging |
Het |
| Errfi1 |
T |
C |
4: 150,951,225 (GRCm39) |
S218P |
probably benign |
Het |
| Fbxw27 |
G |
T |
9: 109,599,223 (GRCm39) |
T398N |
probably damaging |
Het |
| Fhod3 |
A |
G |
18: 25,223,219 (GRCm39) |
D855G |
probably benign |
Het |
| Flii |
A |
G |
11: 60,611,481 (GRCm39) |
V410A |
probably benign |
Het |
| Fsip2 |
C |
A |
2: 82,817,968 (GRCm39) |
P4567Q |
probably benign |
Het |
| Fxyd1 |
T |
G |
7: 30,752,458 (GRCm39) |
Q66H |
probably damaging |
Het |
| Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
| Gramd2b |
C |
T |
18: 56,625,017 (GRCm39) |
T370I |
probably benign |
Het |
| Kdr |
A |
G |
5: 76,104,993 (GRCm39) |
V1079A |
probably damaging |
Het |
| Lmx1a |
G |
A |
1: 167,658,115 (GRCm39) |
G166D |
probably damaging |
Het |
| Lrrfip2 |
A |
G |
9: 111,002,176 (GRCm39) |
R92G |
probably benign |
Het |
| Map1a |
T |
A |
2: 121,130,998 (GRCm39) |
S605T |
probably benign |
Het |
| Megf8 |
A |
T |
7: 25,045,945 (GRCm39) |
D1496V |
probably damaging |
Het |
| Mgam |
T |
C |
6: 40,638,650 (GRCm39) |
V461A |
probably benign |
Het |
| Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
| Nav3 |
T |
C |
10: 109,539,195 (GRCm39) |
T2069A |
probably benign |
Het |
| Nbeal2 |
A |
T |
9: 110,474,506 (GRCm39) |
|
probably null |
Het |
| Ndst1 |
A |
G |
18: 60,828,572 (GRCm39) |
F661L |
possibly damaging |
Het |
| Neu3 |
G |
A |
7: 99,463,027 (GRCm39) |
T232M |
possibly damaging |
Het |
| Nf1 |
T |
C |
11: 79,461,156 (GRCm39) |
S741P |
probably benign |
Het |
| Nr5a1 |
G |
T |
2: 38,584,148 (GRCm39) |
L424M |
probably damaging |
Het |
| Nuf2 |
G |
A |
1: 169,333,641 (GRCm39) |
T345M |
probably benign |
Het |
| Or4d10c |
A |
G |
19: 12,065,530 (GRCm39) |
F209L |
possibly damaging |
Het |
| Or4k51 |
A |
T |
2: 111,585,421 (GRCm39) |
T276S |
probably benign |
Het |
| Or6d12 |
T |
A |
6: 116,493,721 (GRCm39) |
*328R |
probably null |
Het |
| Or8g33 |
G |
A |
9: 39,337,599 (GRCm39) |
T256I |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,407,203 (GRCm39) |
E502G |
possibly damaging |
Het |
| Otulin |
A |
G |
15: 27,608,832 (GRCm39) |
L237S |
probably damaging |
Het |
| Pias1 |
A |
G |
9: 62,788,427 (GRCm39) |
M79T |
|
Het |
| Prom2 |
T |
C |
2: 127,381,698 (GRCm39) |
E206G |
probably benign |
Het |
| Scarb1 |
A |
T |
5: 125,381,414 (GRCm39) |
N43K |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,441,832 (GRCm39) |
V365A |
possibly damaging |
Het |
| Sdk2 |
T |
C |
11: 113,725,731 (GRCm39) |
T1173A |
probably damaging |
Het |
| Sidt1 |
A |
G |
16: 44,063,860 (GRCm39) |
S803P |
probably damaging |
Het |
| Slc45a1 |
A |
T |
4: 150,714,030 (GRCm39) |
D738E |
probably benign |
Het |
| Slc4a7 |
T |
A |
14: 14,733,750 (GRCm38) |
H53Q |
probably damaging |
Het |
| Spata22 |
T |
C |
11: 73,231,225 (GRCm39) |
F160L |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,073,744 (GRCm39) |
S1200G |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,981,520 (GRCm39) |
E729G |
probably damaging |
Het |
| Tcaf2 |
C |
T |
6: 42,607,275 (GRCm39) |
M226I |
probably benign |
Het |
| Tep1 |
T |
C |
14: 51,081,944 (GRCm39) |
|
probably null |
Het |
| Tigd2 |
C |
A |
6: 59,187,166 (GRCm39) |
T11K |
probably damaging |
Het |
| Trappc9 |
A |
G |
15: 72,565,468 (GRCm39) |
V941A |
probably benign |
Het |
| Ugt2b37 |
A |
G |
5: 87,388,848 (GRCm39) |
M455T |
probably benign |
Het |
| Usp42 |
A |
T |
5: 143,712,400 (GRCm39) |
S95T |
probably damaging |
Het |
| Usp44 |
T |
C |
10: 93,686,049 (GRCm39) |
I488T |
possibly damaging |
Het |
| Vmn1r73 |
T |
C |
7: 11,490,320 (GRCm39) |
I46T |
probably damaging |
Het |
| Vmn2r34 |
A |
T |
7: 7,675,540 (GRCm39) |
I616N |
probably damaging |
Het |
| Zfp352 |
A |
G |
4: 90,113,117 (GRCm39) |
K419R |
probably benign |
Het |
| Zfp595 |
T |
A |
13: 67,465,711 (GRCm39) |
H187L |
probably damaging |
Het |
| Zfp804b |
A |
T |
5: 6,822,161 (GRCm39) |
S301T |
probably benign |
Het |
| Zzef1 |
T |
C |
11: 72,763,475 (GRCm39) |
V1374A |
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 |
|
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'- GACATGGTATCTCAGTCCCTCTG -3'
(R):5'- CAGGTGGTTTAAGAAAGCCTTTTC -3'
Sequencing Primer
(F):5'- GGTATCTCAGTCCCTCTGTACTTTG -3'
(R):5'- TCCAGCAAACCAGTTCT -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation