Incidental Mutation 'R8245:Stag1'
| ID |
640825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
067673-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8245 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 100811946 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 808
(T808K)
|
| 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: T808K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: T808K
| 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: T808K
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: T808K
| 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: T418K
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
T |
A |
6: 142,539,870 (GRCm39) |
|
probably null |
Het |
| Adam4 |
A |
T |
12: 81,466,657 (GRCm39) |
C655S |
probably damaging |
Het |
| Adamts13 |
A |
C |
2: 26,880,568 (GRCm39) |
D717A |
probably damaging |
Het |
| Atf7ip2 |
A |
G |
16: 10,019,262 (GRCm39) |
N30S |
possibly damaging |
Het |
| Bmp8b |
T |
C |
4: 123,008,532 (GRCm39) |
V166A |
probably benign |
Het |
| Bpifb9a |
G |
A |
2: 154,104,646 (GRCm39) |
G261R |
probably benign |
Het |
| Cdipt |
G |
T |
7: 126,578,732 (GRCm39) |
M174I |
probably benign |
Het |
| Cep128 |
T |
C |
12: 90,966,419 (GRCm39) |
T1063A |
probably benign |
Het |
| Ciao1 |
A |
G |
2: 127,088,404 (GRCm39) |
Y140H |
probably damaging |
Het |
| Cngb1 |
A |
G |
8: 96,024,408 (GRCm39) |
S217P |
unknown |
Het |
| Cnot2 |
T |
A |
10: 116,346,294 (GRCm39) |
I103F |
probably benign |
Het |
| Col27a1 |
T |
G |
4: 63,144,040 (GRCm39) |
V576G |
probably damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,710 (GRCm39) |
H566Q |
probably benign |
Het |
| Dhrs2 |
T |
A |
14: 55,478,637 (GRCm39) |
C261S |
possibly damaging |
Het |
| Ercc4 |
G |
C |
16: 12,948,001 (GRCm39) |
R406P |
probably benign |
Het |
| Fer1l4 |
A |
G |
2: 155,886,934 (GRCm39) |
|
probably null |
Het |
| Fhod3 |
T |
A |
18: 25,246,673 (GRCm39) |
F1293Y |
probably damaging |
Het |
| Fsip1 |
T |
A |
2: 118,075,359 (GRCm39) |
K218M |
unknown |
Het |
| Fsip2 |
G |
T |
2: 82,811,346 (GRCm39) |
S2555I |
possibly damaging |
Het |
| Gfpt2 |
A |
G |
11: 49,714,785 (GRCm39) |
K358E |
probably benign |
Het |
| Gm9637 |
A |
T |
14: 19,402,598 (GRCm38) |
V1D |
noncoding transcript |
Het |
| H2-M10.6 |
T |
C |
17: 37,124,155 (GRCm39) |
|
probably null |
Het |
| Hand2 |
A |
G |
8: 57,774,994 (GRCm39) |
Y18C |
probably damaging |
Het |
| Helz2 |
A |
T |
2: 180,879,895 (GRCm39) |
V607E |
probably damaging |
Het |
| Hps5 |
G |
A |
7: 46,418,485 (GRCm39) |
R862* |
probably null |
Het |
| Ildr1 |
A |
G |
16: 36,529,883 (GRCm39) |
D90G |
probably damaging |
Het |
| Ints12 |
A |
G |
3: 132,814,633 (GRCm39) |
N280S |
probably benign |
Het |
| Ippk |
C |
T |
13: 49,599,818 (GRCm39) |
P226S |
|
Het |
| Itpr2 |
T |
A |
6: 146,274,604 (GRCm39) |
K859N |
probably damaging |
Het |
| Lhx9 |
G |
T |
1: 138,766,179 (GRCm39) |
A212D |
probably benign |
Het |
| Myo6 |
C |
T |
9: 80,162,229 (GRCm39) |
T322I |
unknown |
Het |
| Ndufaf4 |
A |
G |
4: 24,898,648 (GRCm39) |
D71G |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,214,434 (GRCm39) |
S641T |
probably benign |
Het |
| Nudt7 |
A |
T |
8: 114,863,080 (GRCm39) |
N37I |
probably damaging |
Het |
| Obscn |
T |
A |
11: 58,913,066 (GRCm39) |
I271F |
|
Het |
| Or2ag16 |
T |
C |
7: 106,352,374 (GRCm39) |
T74A |
probably benign |
Het |
| Or4d2b |
G |
A |
11: 87,780,443 (GRCm39) |
S93F |
probably damaging |
Het |
| Or6c5b |
T |
C |
10: 129,245,975 (GRCm39) |
S247P |
probably damaging |
Het |
| Or7g18 |
T |
C |
9: 18,787,126 (GRCm39) |
Y168H |
probably benign |
Het |
| Or9g4b |
A |
G |
2: 85,616,119 (GRCm39) |
E88G |
probably benign |
Het |
| Oxa1l |
T |
C |
14: 54,605,274 (GRCm39) |
S317P |
probably damaging |
Het |
| Poglut2 |
A |
T |
1: 44,156,226 (GRCm39) |
H120Q |
probably benign |
Het |
| Polr2a |
C |
T |
11: 69,630,779 (GRCm39) |
R1213H |
probably damaging |
Het |
| Postn |
A |
T |
3: 54,283,468 (GRCm39) |
S516C |
probably null |
Het |
| Rabep2 |
A |
G |
7: 126,039,580 (GRCm39) |
T336A |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,285,256 (GRCm39) |
C585Y |
probably damaging |
Het |
| Rexo4 |
A |
G |
2: 26,850,350 (GRCm39) |
S276P |
probably damaging |
Het |
| Rsf1 |
GGCGGCGGC |
GGCGGCGGCTGCGGCGGC |
7: 97,229,122 (GRCm39) |
|
probably benign |
Het |
| Sall3 |
G |
A |
18: 81,016,969 (GRCm39) |
P320S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,099,789 (GRCm39) |
L160P |
probably damaging |
Het |
| Sphkap |
A |
G |
1: 83,256,492 (GRCm39) |
F419S |
probably benign |
Het |
| Stam2 |
G |
T |
2: 52,604,931 (GRCm39) |
N201K |
possibly damaging |
Het |
| Stat1 |
G |
A |
1: 52,194,178 (GRCm39) |
R704Q |
probably benign |
Het |
| Tacc2 |
A |
G |
7: 130,331,303 (GRCm39) |
D2236G |
probably damaging |
Het |
| Thsd7a |
T |
A |
6: 12,379,592 (GRCm39) |
Y944F |
|
Het |
| Tmem225 |
G |
T |
9: 40,061,955 (GRCm39) |
V190F |
probably damaging |
Het |
| Tonsl |
A |
T |
15: 76,521,022 (GRCm39) |
V400D |
probably benign |
Het |
| Tpp2 |
G |
A |
1: 44,022,712 (GRCm39) |
G971D |
probably damaging |
Het |
| Trh |
C |
T |
6: 92,220,050 (GRCm39) |
V89I |
probably benign |
Het |
| Txlnb |
A |
G |
10: 17,717,205 (GRCm39) |
D404G |
probably damaging |
Het |
| Uggt1 |
A |
G |
1: 36,204,645 (GRCm39) |
V990A |
probably damaging |
Het |
| Vmn1r179 |
T |
A |
7: 23,628,396 (GRCm39) |
Y196N |
possibly damaging |
Het |
| Vmn2r8 |
T |
C |
5: 108,945,936 (GRCm39) |
D557G |
probably damaging |
Het |
| Zfp516 |
G |
T |
18: 82,974,458 (GRCm39) |
G219C |
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 |
|
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'- AAGCCAAAATCTCTCAGTCTGCTG -3'
(R):5'- ACCCTACTGCTGTCTTTTAAGG -3'
Sequencing Primer
(F):5'- ATGATGTCTTCAATGTAACCACTG -3'
(R):5'- ACTGCTGTCTTTTAAGGTTGACAAG -3'
|
| Posted On |
2020-07-28 |
Incidental Mutation