Incidental Mutation 'R6313:Stag1'
ID |
510527 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag1
|
Ensembl Gene |
ENSMUSG00000037286 |
Gene Name |
STAG1 cohesin complex component |
Synonyms |
SA-1, Scc3 |
MMRRC Submission |
044470-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6313 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100639786 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 114
(D114G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000119637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000133388]
[ENSMUST00000138405]
[ENSMUST00000146312]
[ENSMUST00000155108]
|
AlphaFold |
Q9D3E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041418
AA Change: D114G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: D114G
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: D114G
PolyPhen 2
Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000117879 Gene: ENSMUSG00000037286 AA Change: D114G
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: D114G
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: D114G
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: ENSMUST00000133388
AA Change: D114G
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000119637 Gene: ENSMUSG00000037286 AA Change: D114G
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000138405
AA Change: D114G
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000116322 Gene: ENSMUSG00000037286 AA Change: D114G
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 |
probably damaging
Transcript: ENSMUST00000155108
AA Change: D114G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000118952 Gene: ENSMUSG00000037286 AA Change: D114G
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 |
0.6017 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
Validation Efficiency |
100% (70/70) |
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 |
Abca16 |
T |
C |
7: 120,126,344 (GRCm39) |
F1167L |
probably damaging |
Het |
Abraxas2 |
G |
A |
7: 132,476,694 (GRCm39) |
A145T |
probably damaging |
Het |
Acaca |
C |
T |
11: 84,183,755 (GRCm39) |
T32I |
probably benign |
Het |
Adam6a |
A |
T |
12: 113,508,670 (GRCm39) |
N348Y |
possibly damaging |
Het |
Ankdd1a |
C |
T |
9: 65,415,343 (GRCm39) |
A227T |
possibly damaging |
Het |
Arhgef38 |
T |
C |
3: 132,940,469 (GRCm39) |
D39G |
possibly damaging |
Het |
Arid5b |
T |
C |
10: 67,933,412 (GRCm39) |
D587G |
possibly damaging |
Het |
Brwd1 |
A |
G |
16: 95,809,141 (GRCm39) |
V1963A |
probably benign |
Het |
Ccdc136 |
T |
A |
6: 29,410,204 (GRCm39) |
L34Q |
probably damaging |
Het |
Cdh2 |
T |
C |
18: 16,907,579 (GRCm39) |
Q53R |
probably benign |
Het |
Celsr2 |
G |
A |
3: 108,308,530 (GRCm39) |
S1799L |
probably damaging |
Het |
Cenpe |
A |
G |
3: 134,935,936 (GRCm39) |
E457G |
probably benign |
Het |
Cmtm1 |
A |
T |
8: 105,031,795 (GRCm39) |
M283K |
possibly damaging |
Het |
Dcdc5 |
T |
C |
2: 106,198,516 (GRCm39) |
|
noncoding transcript |
Het |
Decr1 |
T |
A |
4: 15,924,261 (GRCm39) |
M220L |
probably benign |
Het |
Dgkg |
T |
G |
16: 22,338,311 (GRCm39) |
D592A |
probably damaging |
Het |
Dkkl1 |
T |
C |
7: 44,860,862 (GRCm39) |
Q39R |
probably benign |
Het |
Dyrk1a |
T |
A |
16: 94,460,373 (GRCm39) |
C10S |
possibly damaging |
Het |
Efcab2 |
A |
T |
1: 178,308,936 (GRCm39) |
E146D |
probably benign |
Het |
Efhc1 |
T |
C |
1: 21,049,652 (GRCm39) |
V504A |
possibly damaging |
Het |
Ermard |
T |
G |
17: 15,273,467 (GRCm39) |
|
probably null |
Het |
Espl1 |
T |
C |
15: 102,224,247 (GRCm39) |
V1266A |
probably benign |
Het |
Fbxw22 |
A |
C |
9: 109,232,465 (GRCm39) |
V40G |
probably damaging |
Het |
Gm3629 |
A |
T |
14: 17,834,409 (GRCm39) |
I194N |
possibly damaging |
Het |
Gnai2 |
C |
T |
9: 107,497,296 (GRCm39) |
V33M |
possibly damaging |
Het |
H2-DMb1 |
T |
C |
17: 34,376,506 (GRCm39) |
|
probably null |
Het |
Hc |
T |
C |
2: 34,879,851 (GRCm39) |
|
probably null |
Het |
Iars1 |
T |
C |
13: 49,861,921 (GRCm39) |
S491P |
probably damaging |
Het |
Knl1 |
T |
A |
2: 118,899,799 (GRCm39) |
L500H |
probably damaging |
Het |
Lamb1 |
A |
T |
12: 31,319,146 (GRCm39) |
T102S |
probably damaging |
Het |
Lrrc7 |
A |
G |
3: 157,866,373 (GRCm39) |
S1123P |
probably damaging |
Het |
Mettl5 |
C |
A |
2: 69,702,071 (GRCm39) |
|
probably null |
Het |
Mmp11 |
A |
G |
10: 75,759,818 (GRCm39) |
*4R |
probably null |
Het |
Myom1 |
A |
T |
17: 71,389,483 (GRCm39) |
D911V |
probably benign |
Het |
Nid1 |
A |
G |
13: 13,638,367 (GRCm39) |
T96A |
probably benign |
Het |
Nlrp4e |
G |
T |
7: 23,052,597 (GRCm39) |
V839L |
probably benign |
Het |
Notch3 |
A |
T |
17: 32,370,128 (GRCm39) |
|
probably null |
Het |
Or8k35 |
T |
C |
2: 86,424,411 (GRCm39) |
T254A |
possibly damaging |
Het |
Pcdh8 |
T |
C |
14: 80,005,091 (GRCm39) |
H978R |
probably benign |
Het |
Pde8b |
A |
T |
13: 95,178,508 (GRCm39) |
C537* |
probably null |
Het |
Polr1b |
T |
C |
2: 128,967,366 (GRCm39) |
F920L |
probably damaging |
Het |
Polr2f |
A |
G |
15: 79,035,573 (GRCm39) |
T87A |
probably damaging |
Het |
Pon2 |
T |
A |
6: 5,272,421 (GRCm39) |
H133L |
probably damaging |
Het |
Pou2af2 |
C |
T |
9: 51,201,481 (GRCm39) |
D192N |
probably damaging |
Het |
Ptk2b |
T |
A |
14: 66,416,280 (GRCm39) |
E205V |
probably damaging |
Het |
Rb1cc1 |
T |
A |
1: 6,314,357 (GRCm39) |
M343K |
probably benign |
Het |
Rlf |
G |
A |
4: 121,005,807 (GRCm39) |
R1058W |
probably damaging |
Het |
S100z |
T |
A |
13: 95,615,082 (GRCm39) |
K28* |
probably null |
Het |
Scarf1 |
T |
A |
11: 75,411,141 (GRCm39) |
N273K |
probably benign |
Het |
Setd2 |
A |
G |
9: 110,385,434 (GRCm39) |
I136M |
unknown |
Het |
Sfrp2 |
A |
G |
3: 83,674,291 (GRCm39) |
D148G |
probably benign |
Het |
Slc24a4 |
A |
G |
12: 102,220,769 (GRCm39) |
E400G |
probably benign |
Het |
Slc2a9 |
T |
G |
5: 38,610,464 (GRCm39) |
I112L |
probably benign |
Het |
Smc5 |
A |
T |
19: 23,186,312 (GRCm39) |
Y972* |
probably null |
Het |
Sntg1 |
T |
C |
1: 8,515,248 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
T |
C |
10: 82,129,470 (GRCm39) |
N1180S |
probably benign |
Het |
Suclg1 |
T |
C |
6: 73,233,192 (GRCm39) |
S46P |
probably damaging |
Het |
Synj1 |
C |
T |
16: 90,743,703 (GRCm39) |
A1186T |
probably benign |
Het |
Tas2r124 |
A |
G |
6: 132,732,410 (GRCm39) |
T240A |
probably benign |
Het |
Tax1bp1 |
T |
C |
6: 52,721,341 (GRCm39) |
|
probably null |
Het |
Tchh |
C |
A |
3: 93,355,158 (GRCm39) |
Q1533K |
unknown |
Het |
Tmprss15 |
T |
C |
16: 78,759,058 (GRCm39) |
T887A |
probably benign |
Het |
Ttn |
T |
C |
2: 76,536,937 (GRCm39) |
I34963V |
probably benign |
Het |
Unc79 |
G |
A |
12: 103,078,878 (GRCm39) |
G1485D |
probably damaging |
Het |
Usp9y |
G |
T |
Y: 1,385,355 (GRCm39) |
H633N |
probably benign |
Homo |
Vmn2r99 |
A |
T |
17: 19,602,867 (GRCm39) |
N541Y |
probably damaging |
Het |
Zbtb11 |
T |
A |
16: 55,810,854 (GRCm39) |
N337K |
probably benign |
Het |
Zfp260 |
T |
A |
7: 29,804,267 (GRCm39) |
C56S |
possibly damaging |
Het |
Zfp457 |
C |
T |
13: 67,440,746 (GRCm39) |
E610K |
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 |
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'- AGGCTAGCTATGCCTTTTGC -3'
(R):5'- CACAGACCATTTGCTCTGCC -3'
Sequencing Primer
(F):5'- TGCCTTTTGCTCTATTGAAATCTAG -3'
(R):5'- GACCATTTGCTCTGCCAAAAATG -3'
|
Posted On |
2018-04-02 |