Incidental Mutation 'R9233:Stag1'
| ID |
700365 |
| 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 # |
R9233 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100812024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 834
(M834K)
|
| 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: M834K
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: M834K
| 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: M834K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: M834K
| 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: M444K
| 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 |
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,082,496 (GRCm39) |
T1159K |
probably benign |
Het |
| Acap1 |
A |
G |
11: 69,775,484 (GRCm39) |
V479A |
probably benign |
Het |
| Actl11 |
A |
G |
9: 107,807,900 (GRCm39) |
E741G |
possibly damaging |
Het |
| Anp32b |
A |
T |
4: 46,463,909 (GRCm39) |
I103F |
probably damaging |
Het |
| Ap4m1 |
C |
T |
5: 138,176,653 (GRCm39) |
R418* |
probably null |
Het |
| Asic3 |
G |
A |
5: 24,618,837 (GRCm39) |
R43H |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,994,289 (GRCm39) |
V662A |
probably benign |
Het |
| Cacna1a |
C |
T |
8: 85,271,283 (GRCm39) |
R479C |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,780,845 (GRCm39) |
C214S |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,502,754 (GRCm39) |
Y100F |
|
Het |
| Dock9 |
T |
A |
14: 121,820,781 (GRCm39) |
T1538S |
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,466,913 (GRCm39) |
M156V |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,124,635 (GRCm39) |
Q546R |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,014,668 (GRCm39) |
V185A |
probably benign |
Het |
| Etv4 |
A |
C |
11: 101,662,532 (GRCm39) |
V314G |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 62,989,622 (GRCm39) |
V228E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,519 (GRCm39) |
Y444C |
possibly damaging |
Het |
| Fhip2a |
T |
A |
19: 57,369,098 (GRCm39) |
F360L |
probably damaging |
Het |
| Gcc1 |
A |
G |
6: 28,418,710 (GRCm39) |
L541P |
probably damaging |
Het |
| Gemin4 |
A |
G |
11: 76,103,942 (GRCm39) |
I273T |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,056,387 (GRCm39) |
K1193E |
possibly damaging |
Het |
| Gmps |
C |
T |
3: 63,924,133 (GRCm39) |
P687L |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,836,014 (GRCm39) |
L462P |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspa12b |
T |
C |
2: 130,976,036 (GRCm39) |
Y13H |
probably damaging |
Het |
| Kcnh8 |
A |
C |
17: 53,285,168 (GRCm39) |
E1046A |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,053,538 (GRCm39) |
T375S |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,004,193 (GRCm39) |
|
probably null |
Het |
| Klhl5 |
G |
T |
5: 65,300,673 (GRCm39) |
V219L |
possibly damaging |
Het |
| Kpna1 |
A |
T |
16: 35,853,793 (GRCm39) |
E474D |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,840,502 (GRCm39) |
Y632* |
probably null |
Het |
| Lias |
A |
G |
5: 65,551,331 (GRCm39) |
N88S |
probably benign |
Het |
| Mei1 |
C |
T |
15: 81,973,752 (GRCm39) |
R80C |
|
Het |
| Mical2 |
T |
G |
7: 111,981,399 (GRCm39) |
S458A |
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,447 (GRCm39) |
S25P |
probably benign |
Het |
| Mttp |
T |
A |
3: 137,822,280 (GRCm39) |
D169V |
probably damaging |
Het |
| Npdc1 |
A |
G |
2: 25,296,329 (GRCm39) |
E72G |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,587 (GRCm39) |
T503A |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pigu |
C |
T |
2: 155,178,610 (GRCm39) |
V83I |
possibly damaging |
Het |
| Ppcs |
G |
A |
4: 119,279,397 (GRCm39) |
R52* |
probably null |
Het |
| Rbm33 |
A |
G |
5: 28,544,239 (GRCm39) |
E165G |
probably benign |
Het |
| Rnf5 |
A |
T |
17: 34,822,326 (GRCm39) |
V41E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,265,590 (GRCm39) |
T501A |
probably benign |
Het |
| Rps17 |
T |
G |
7: 80,993,497 (GRCm39) |
M105L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,610,772 (GRCm39) |
M4018K |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,720 (GRCm39) |
M721V |
probably benign |
Het |
| Scgb1b30 |
A |
G |
7: 33,799,184 (GRCm39) |
T39A |
probably damaging |
Het |
| Selenoo |
T |
C |
15: 88,984,044 (GRCm39) |
V620A |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,894,422 (GRCm39) |
I739R |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,359,291 (GRCm39) |
T972A |
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,002,644 (GRCm39) |
R221H |
unknown |
Het |
| Taf1a |
T |
C |
1: 183,181,878 (GRCm39) |
I177T |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,175,018 (GRCm39) |
D158N |
probably benign |
Het |
| Tcirg1 |
G |
T |
19: 3,952,543 (GRCm39) |
T275K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tor1b |
A |
C |
2: 30,844,015 (GRCm39) |
I151L |
probably benign |
Het |
| Trappc12 |
T |
A |
12: 28,772,414 (GRCm39) |
Q471L |
possibly damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Ugt2a2 |
G |
A |
5: 87,613,272 (GRCm39) |
P288S |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,381 (GRCm39) |
L87P |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,399 (GRCm39) |
R118G |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,879,344 (GRCm39) |
T1493I |
|
Het |
| Xrra1 |
T |
G |
7: 99,516,574 (GRCm39) |
M6R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,288 (GRCm39) |
E1169G |
probably benign |
Het |
| Zfp738 |
G |
T |
13: 67,819,017 (GRCm39) |
R325S |
possibly damaging |
Het |
| Zmym4 |
A |
G |
4: 126,776,310 (GRCm39) |
M1209T |
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 |
100,769,426 (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 |
|
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'- AGTAGGTAATCCTATATTCGTGTCC -3'
(R):5'- TTAGCACAGGGTATTGGCATG -3'
Sequencing Primer
(F):5'- GGTAATCCTATATTCGTGTCCTCTTC -3'
(R):5'- CAGGGTATTGGCATGCACTACTAC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation