Incidental Mutation 'R9442:Stag1'
ID |
713691 |
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 # |
R9442 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 100836306 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 1197
(I1197N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
AlphaFold |
Q9D3E6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000041418
AA Change: I1160N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: I1160N
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 damaging
Transcript: ENSMUST00000129269
AA Change: I1197N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: I1197N
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: I807N
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: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (44/44) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700122O11Rik |
T |
A |
17: 48,347,580 (GRCm39) |
K241N |
possibly damaging |
Het |
Adam5 |
A |
T |
8: 25,296,510 (GRCm39) |
S312R |
probably damaging |
Het |
Atg9a |
C |
T |
1: 75,163,086 (GRCm39) |
C338Y |
possibly damaging |
Het |
Cage1 |
T |
C |
13: 38,196,447 (GRCm39) |
E749G |
possibly damaging |
Het |
Catspere2 |
C |
A |
1: 177,931,275 (GRCm39) |
T398K |
unknown |
Het |
Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
Ccndbp1 |
T |
C |
2: 120,839,013 (GRCm39) |
V8A |
probably benign |
Het |
Cenpt |
T |
C |
8: 106,575,418 (GRCm39) |
D228G |
probably benign |
Het |
Cfap57 |
A |
G |
4: 118,463,731 (GRCm39) |
|
probably null |
Het |
Cyp4a32 |
T |
A |
4: 115,468,422 (GRCm39) |
N301K |
probably benign |
Het |
Epha6 |
T |
C |
16: 60,025,850 (GRCm39) |
T531A |
probably benign |
Het |
Gmeb1 |
A |
T |
4: 131,962,156 (GRCm39) |
C168S |
probably damaging |
Het |
H2-DMa |
G |
A |
17: 34,357,132 (GRCm39) |
R210H |
possibly damaging |
Het |
Ighv1-7 |
T |
G |
12: 114,502,198 (GRCm39) |
T90P |
probably damaging |
Het |
Kalrn |
A |
C |
16: 33,916,249 (GRCm39) |
M1R |
probably null |
Het |
Kcnrg |
CACAACAA |
CACAA |
14: 61,845,009 (GRCm39) |
|
probably benign |
Het |
Krtap14 |
T |
C |
16: 88,622,865 (GRCm39) |
D38G |
possibly damaging |
Het |
Lrrc8e |
A |
G |
8: 4,283,964 (GRCm39) |
N63S |
probably benign |
Het |
Map4k2 |
T |
A |
19: 6,392,814 (GRCm39) |
L152Q |
probably damaging |
Het |
Mcf2l |
A |
G |
8: 13,023,048 (GRCm39) |
D78G |
possibly damaging |
Het |
Ms4a6c |
T |
C |
19: 11,449,851 (GRCm39) |
V81A |
probably benign |
Het |
Mtnr1b |
T |
C |
9: 15,785,660 (GRCm39) |
T33A |
probably benign |
Het |
Muc16 |
T |
A |
9: 18,566,624 (GRCm39) |
Q1965L |
unknown |
Het |
Nfatc2 |
A |
C |
2: 168,328,898 (GRCm39) |
|
probably benign |
Het |
Nlrp9b |
C |
T |
7: 19,779,707 (GRCm39) |
T790I |
possibly damaging |
Het |
Nol4 |
A |
T |
18: 22,902,899 (GRCm39) |
C371S |
probably damaging |
Het |
Ntn1 |
A |
C |
11: 68,148,485 (GRCm39) |
|
probably benign |
Het |
Or14j3 |
A |
G |
17: 37,900,633 (GRCm39) |
S204P |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,469,357 (GRCm39) |
V727A |
probably benign |
Het |
Phf20l1 |
C |
T |
15: 66,484,888 (GRCm39) |
Q318* |
probably null |
Het |
Psg18 |
A |
T |
7: 18,083,185 (GRCm39) |
Y323* |
probably null |
Het |
Ptk2b |
T |
C |
14: 66,409,189 (GRCm39) |
Y529C |
probably damaging |
Het |
Rrm1 |
A |
G |
7: 102,108,598 (GRCm39) |
Y374C |
probably damaging |
Het |
Selp |
T |
A |
1: 163,964,765 (GRCm39) |
F476I |
probably damaging |
Het |
Sema3b |
A |
G |
9: 107,478,957 (GRCm39) |
|
probably null |
Het |
Setdb2 |
T |
G |
14: 59,639,849 (GRCm39) |
T665P |
probably damaging |
Het |
Sorbs3 |
T |
C |
14: 70,424,387 (GRCm39) |
Y515C |
probably damaging |
Het |
St13 |
G |
A |
15: 81,272,575 (GRCm39) |
P90S |
possibly damaging |
Het |
Svs3a |
A |
G |
2: 164,132,179 (GRCm39) |
Y250C |
probably damaging |
Het |
Ticam1 |
T |
C |
17: 56,577,428 (GRCm39) |
I556V |
probably benign |
Het |
Vmn1r180 |
A |
G |
7: 23,651,620 (GRCm39) |
|
probably benign |
Het |
Xirp2 |
T |
A |
2: 67,342,235 (GRCm39) |
L1492* |
probably null |
Het |
Zfp438 |
A |
G |
18: 5,214,379 (GRCm39) |
V193A |
probably benign |
Het |
Zfp729b |
A |
G |
13: 67,739,337 (GRCm39) |
V976A |
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 |
|
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 |
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 |
|
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'- TTTGAGAGAACCAAAGGAGTAATCC -3'
(R):5'- TGCCACCTAATAAGCTCGTCTTG -3'
Sequencing Primer
(F):5'- AGTAATCCTTTTGTTGGGTATAATCC -3'
(R):5'- TGATGTCCAAGAATGGTCACC -3'
|
Posted On |
2022-06-15 |