Incidental Mutation 'R3713:Stag1'
ID |
259750 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag1
|
Ensembl Gene |
ENSMUSG00000037286 |
Gene Name |
STAG1 cohesin complex component |
Synonyms |
SA-1, Scc3 |
MMRRC Submission |
040706-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3713 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100771671 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 699
(T699A)
|
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: T699A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: T699A
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: T699A
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: T699A
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 |
unknown
Transcript: ENSMUST00000143955
AA Change: T4A
|
SMART Domains |
Protein: ENSMUSP00000115460 Gene: ENSMUSG00000037286 AA Change: T4A
Domain | Start | End | E-Value | Type |
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146934
AA Change: T309A
|
SMART Domains |
Protein: ENSMUSP00000120974 Gene: ENSMUSG00000037286 AA Change: T309A
Domain | Start | End | E-Value | Type |
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
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 |
0.0688 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 97.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (67/67) |
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: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310079G19Rik |
T |
C |
16: 88,424,081 (GRCm39) |
M137V |
probably benign |
Het |
Aak1 |
T |
A |
6: 86,932,172 (GRCm39) |
I381N |
probably benign |
Het |
Abcd4 |
C |
T |
12: 84,658,533 (GRCm39) |
M223I |
probably benign |
Het |
Adgrf2 |
A |
G |
17: 43,023,979 (GRCm39) |
V164A |
probably damaging |
Het |
Ahdc1 |
G |
A |
4: 132,793,297 (GRCm39) |
A1513T |
possibly damaging |
Het |
Akap13 |
T |
C |
7: 75,235,929 (GRCm39) |
M168T |
probably damaging |
Het |
Aox1 |
C |
T |
1: 58,095,374 (GRCm39) |
T196I |
probably benign |
Het |
Aqr |
A |
G |
2: 113,949,150 (GRCm39) |
|
probably benign |
Het |
Astn1 |
A |
G |
1: 158,495,102 (GRCm39) |
E1042G |
possibly damaging |
Het |
Azi2 |
A |
G |
9: 117,876,508 (GRCm39) |
D8G |
possibly damaging |
Het |
Bcam |
T |
C |
7: 19,498,118 (GRCm39) |
T302A |
probably benign |
Het |
Cct6b |
A |
T |
11: 82,651,183 (GRCm39) |
I110N |
probably damaging |
Het |
Cd109 |
CATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
9: 78,619,782 (GRCm39) |
|
probably benign |
Het |
Ceacam5 |
G |
A |
7: 17,493,263 (GRCm39) |
S762N |
possibly damaging |
Het |
Cecr2 |
T |
C |
6: 120,735,221 (GRCm39) |
L819P |
probably damaging |
Het |
Cers3 |
G |
T |
7: 66,435,823 (GRCm39) |
A261S |
probably benign |
Het |
Chd2 |
A |
G |
7: 73,121,538 (GRCm39) |
|
probably benign |
Het |
Col7a1 |
G |
T |
9: 108,793,508 (GRCm39) |
G1357* |
probably null |
Het |
Cux1 |
A |
G |
5: 136,594,397 (GRCm39) |
|
probably benign |
Het |
Cwh43 |
A |
T |
5: 73,595,835 (GRCm39) |
I535F |
probably damaging |
Het |
Dexi |
A |
T |
16: 10,360,553 (GRCm39) |
M1K |
probably null |
Het |
Dnah12 |
T |
C |
14: 26,534,747 (GRCm39) |
V2081A |
probably benign |
Het |
Efcab5 |
A |
T |
11: 77,007,008 (GRCm39) |
L872Q |
probably damaging |
Het |
Enpp7 |
A |
G |
11: 118,881,344 (GRCm39) |
Y163C |
probably damaging |
Het |
Fam221a |
T |
C |
6: 49,349,548 (GRCm39) |
Y38H |
probably damaging |
Het |
Foxred1 |
A |
G |
9: 35,122,186 (GRCm39) |
M1T |
probably null |
Het |
Fscn3 |
C |
T |
6: 28,428,091 (GRCm39) |
T26I |
possibly damaging |
Het |
Galp |
A |
T |
7: 6,216,836 (GRCm39) |
D72V |
probably damaging |
Het |
Gm9843 |
A |
G |
16: 76,200,419 (GRCm39) |
|
noncoding transcript |
Het |
Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
Lmbrd1 |
T |
C |
1: 24,732,076 (GRCm39) |
Y98H |
probably damaging |
Het |
Lrrc63 |
T |
G |
14: 75,344,776 (GRCm39) |
Y437S |
probably benign |
Het |
Macc1 |
A |
G |
12: 119,410,576 (GRCm39) |
E448G |
probably benign |
Het |
Madcam1 |
A |
G |
10: 79,504,194 (GRCm39) |
H404R |
probably benign |
Het |
Mink1 |
G |
T |
11: 70,499,776 (GRCm39) |
R773L |
possibly damaging |
Het |
Mroh2b |
A |
G |
15: 4,973,131 (GRCm39) |
I1045V |
probably benign |
Het |
Mroh3 |
T |
C |
1: 136,113,714 (GRCm39) |
T692A |
probably benign |
Het |
Myo15a |
A |
T |
11: 60,370,057 (GRCm39) |
E939V |
possibly damaging |
Het |
Naip2 |
A |
G |
13: 100,298,410 (GRCm39) |
F542S |
probably damaging |
Het |
Napsa |
A |
G |
7: 44,230,852 (GRCm39) |
Y73C |
probably damaging |
Het |
Ndst4 |
A |
T |
3: 125,355,154 (GRCm39) |
H354L |
possibly damaging |
Het |
Neil1 |
A |
T |
9: 57,054,254 (GRCm39) |
V22E |
probably damaging |
Het |
Nol4 |
T |
C |
18: 23,172,994 (GRCm39) |
I36V |
probably damaging |
Het |
Nprl3 |
G |
A |
11: 32,205,464 (GRCm39) |
T111I |
probably damaging |
Het |
Or12k8 |
A |
G |
2: 36,975,517 (GRCm39) |
M81T |
possibly damaging |
Het |
Or1e26 |
A |
T |
11: 73,479,731 (GRCm39) |
Y278N |
probably damaging |
Het |
Or4p22 |
C |
A |
2: 88,317,787 (GRCm39) |
T237N |
probably damaging |
Het |
Pald1 |
G |
A |
10: 61,178,144 (GRCm39) |
T624I |
possibly damaging |
Het |
Pcdhb13 |
C |
T |
18: 37,576,786 (GRCm39) |
P388L |
probably damaging |
Het |
Pcdhga6 |
T |
C |
18: 37,840,976 (GRCm39) |
V232A |
probably damaging |
Het |
Pde6b |
A |
G |
5: 108,570,928 (GRCm39) |
I388V |
probably damaging |
Het |
Phactr2 |
C |
A |
10: 13,264,476 (GRCm39) |
|
probably benign |
Het |
Prdx5 |
T |
C |
19: 6,885,477 (GRCm39) |
D56G |
probably damaging |
Het |
Ptprh |
A |
T |
7: 4,574,969 (GRCm39) |
I350N |
probably damaging |
Het |
Rangap1 |
C |
A |
15: 81,594,661 (GRCm39) |
E389D |
probably benign |
Het |
Reln |
A |
G |
5: 22,109,732 (GRCm39) |
V3126A |
probably damaging |
Het |
Rpl21 |
G |
A |
5: 146,771,847 (GRCm39) |
G59S |
possibly damaging |
Het |
Rsph6a |
G |
A |
7: 18,791,475 (GRCm39) |
V215M |
probably damaging |
Het |
Smcp |
T |
C |
3: 92,491,431 (GRCm39) |
K139E |
unknown |
Het |
Tars3 |
G |
A |
7: 65,338,700 (GRCm39) |
|
probably null |
Het |
Tle1 |
G |
T |
4: 72,044,659 (GRCm39) |
H459Q |
possibly damaging |
Het |
Ttn |
G |
A |
2: 76,561,363 (GRCm39) |
P27302S |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,571,610 (GRCm39) |
V26428I |
probably damaging |
Het |
Usp53 |
T |
C |
3: 122,742,968 (GRCm39) |
E656G |
probably benign |
Het |
Vmn1r218 |
A |
T |
13: 23,321,081 (GRCm39) |
N63Y |
probably damaging |
Het |
Vmn1r79 |
A |
G |
7: 11,910,139 (GRCm39) |
N40S |
possibly damaging |
Het |
Wdr35 |
A |
G |
12: 9,077,648 (GRCm39) |
D1107G |
possibly damaging |
Het |
Zfp101 |
A |
G |
17: 33,600,880 (GRCm39) |
M292T |
probably benign |
Het |
Zfp108 |
T |
A |
7: 23,961,270 (GRCm39) |
C620* |
probably null |
Het |
Zscan4b |
T |
C |
7: 10,635,818 (GRCm39) |
T170A |
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 |
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'- GAGGAAGGCCCAATATTCAGTCC -3'
(R):5'- CTGATTAAAGTGCTTACAGTGCATC -3'
Sequencing Primer
(F):5'- AGGCCCAATATTCAGTCCTTCATAC -3'
(R):5'- CAGTGCATCTGGTACTTAAA -3'
|
Posted On |
2015-01-23 |