Incidental Mutation 'R0962:Stag1'
| ID |
81286 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 100678880 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 267
(L267Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116322
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000138405]
[ENSMUST00000146312]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041418
AA Change: L267Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: L267Q
| 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 damaging
Transcript: ENSMUST00000123302
AA Change: L267Q
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286
AA Change: L267Q
| 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 damaging
Transcript: ENSMUST00000129269
AA Change: L267Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: L267Q
| 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 damaging
Transcript: ENSMUST00000138405
AA Change: L267Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116322
Gene: ENSMUSG00000037286
AA Change: L267Q
| 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: ENSMUST00000146312
|
| SMART Domains |
Protein: ENSMUSP00000116597
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
|
99 |
196 |
4.2e-46 |
PFAM |
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,538,497 (GRCm39) |
T754A |
possibly damaging |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,010 (GRCm39) |
I319T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kdm7a |
A |
G |
6: 39,124,128 (GRCm39) |
V720A |
probably benign |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,815,998 (GRCm39) |
M172V |
probably benign |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Tex9 |
T |
C |
9: 72,391,374 (GRCm39) |
T92A |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACCGAGCCATCCCTAGAGGATAG -3'
(R):5'- CATGTCACCCTTACTCAATGGTGCTTA -3'
Sequencing Primer
(F):5'- GCTCCTTGGATGAGACTTTTAAATG -3'
(R):5'- tcccaggctaagctcaaac -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation