Incidental Mutation 'IGL00095:Stag3'
ID |
1608 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stag3
|
Ensembl Gene |
ENSMUSG00000036928 |
Gene Name |
STAG3 cohesin complex component |
Synonyms |
SA-2, stromalin 3 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00095
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 138297400 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 577
(T577M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000162245]
|
AlphaFold |
O70576 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048028
AA Change: T577M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000040945 Gene: ENSMUSG00000036928 AA Change: T577M
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
Pfam:STAG
|
188 |
301 |
3.1e-38 |
PFAM |
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
low complexity region
|
1099 |
1114 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1190 |
1208 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159483
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161615
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162245
AA Change: T577M
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000125523 Gene: ENSMUSG00000036928 AA Change: T577M
Domain | Start | End | E-Value | Type |
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
Pfam:STAG
|
185 |
304 |
4e-50 |
PFAM |
low complexity region
|
633 |
653 |
N/A |
INTRINSIC |
low complexity region
|
1099 |
1114 |
N/A |
INTRINSIC |
low complexity region
|
1141 |
1151 |
N/A |
INTRINSIC |
low complexity region
|
1190 |
1208 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is expressed in the nucleus and is a subunit of the cohesin complex which regulates the cohesion of sister chromatids during cell division. A mutation in this gene is associated with premature ovarian failure. Alternate splicing results in multiple transcript variants encoding distinct isoforms. This gene has multiple pseudogenes. [provided by RefSeq, Apr 2014] PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit azoospermia and lack oocytes. [provided by MGI curators]
|
Allele List at MGI |
All alleles(4) : Targeted(2) Gene trapped(1) Transgenic(1)
|
Other mutations in this stock |
Total: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Cadm2 |
A |
T |
16: 66,679,639 (GRCm39) |
Y65N |
probably damaging |
Het |
Catsperg2 |
C |
A |
7: 29,397,483 (GRCm39) |
C1042F |
possibly damaging |
Het |
Cluh |
T |
C |
11: 74,554,890 (GRCm39) |
V776A |
probably benign |
Het |
Crxos |
T |
A |
7: 15,632,543 (GRCm39) |
C116* |
probably null |
Het |
Csmd1 |
A |
G |
8: 16,059,297 (GRCm39) |
|
probably benign |
Het |
Cubn |
C |
A |
2: 13,496,631 (GRCm39) |
|
probably benign |
Het |
Exoc2 |
A |
G |
13: 31,004,609 (GRCm39) |
I858T |
probably benign |
Het |
Frmpd1 |
C |
A |
4: 45,279,456 (GRCm39) |
T727K |
possibly damaging |
Het |
Hapln3 |
T |
C |
7: 78,771,731 (GRCm39) |
T53A |
probably damaging |
Het |
Hnrnpul1 |
T |
A |
7: 25,425,579 (GRCm39) |
Q584L |
possibly damaging |
Het |
Ikbkb |
A |
T |
8: 23,196,127 (GRCm39) |
F26I |
probably damaging |
Het |
Il31ra |
A |
T |
13: 112,684,012 (GRCm39) |
I120N |
possibly damaging |
Het |
Itih1 |
C |
T |
14: 30,651,778 (GRCm39) |
V855M |
probably benign |
Het |
Krtap4-16 |
A |
G |
11: 99,742,032 (GRCm39) |
S123P |
possibly damaging |
Het |
Large1 |
C |
T |
8: 73,564,125 (GRCm39) |
R547Q |
probably damaging |
Het |
Madd |
A |
G |
2: 91,006,111 (GRCm39) |
|
probably benign |
Het |
Mark1 |
A |
G |
1: 184,630,800 (GRCm39) |
V770A |
probably damaging |
Het |
Mpeg1 |
T |
C |
19: 12,440,074 (GRCm39) |
F511L |
probably benign |
Het |
Mrgpra9 |
A |
G |
7: 46,884,839 (GRCm39) |
V276A |
possibly damaging |
Het |
Nav3 |
T |
C |
10: 109,677,594 (GRCm39) |
T666A |
probably damaging |
Het |
Ndufa8 |
T |
C |
2: 35,934,467 (GRCm39) |
D37G |
probably damaging |
Het |
Nlrx1 |
A |
G |
9: 44,164,576 (GRCm39) |
L956P |
probably damaging |
Het |
Nr5a1 |
T |
C |
2: 38,598,353 (GRCm39) |
E148G |
probably benign |
Het |
Or10ab5 |
A |
T |
7: 108,245,043 (GRCm39) |
F247I |
possibly damaging |
Het |
Or14c46 |
T |
C |
7: 85,918,877 (GRCm39) |
N40S |
probably damaging |
Het |
Otulinl |
A |
G |
15: 27,658,202 (GRCm39) |
S273P |
possibly damaging |
Het |
Patj |
A |
C |
4: 98,423,799 (GRCm39) |
Q1184P |
possibly damaging |
Het |
Phf20l1 |
A |
G |
15: 66,500,884 (GRCm39) |
T619A |
probably benign |
Het |
Pla2g6 |
T |
C |
15: 79,173,441 (GRCm39) |
T643A |
probably damaging |
Het |
Pramel42 |
T |
C |
5: 94,685,663 (GRCm39) |
L441P |
probably damaging |
Het |
Radil |
A |
G |
5: 142,483,677 (GRCm39) |
S510P |
probably damaging |
Het |
Spock1 |
A |
G |
13: 57,735,552 (GRCm39) |
|
probably benign |
Het |
Tap2 |
C |
T |
17: 34,434,352 (GRCm39) |
R613C |
probably benign |
Het |
Tnn |
A |
G |
1: 159,953,021 (GRCm39) |
V673A |
possibly damaging |
Het |
Trrap |
T |
C |
5: 144,716,784 (GRCm39) |
|
probably benign |
Het |
Vmn2r28 |
T |
C |
7: 5,491,068 (GRCm39) |
D393G |
probably benign |
Het |
Zbtb48 |
T |
C |
4: 152,105,851 (GRCm39) |
H418R |
probably damaging |
Het |
Zc3h12d |
T |
C |
10: 7,738,231 (GRCm39) |
V179A |
probably damaging |
Het |
|
Other mutations in Stag3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00336:Stag3
|
APN |
5 |
138,295,921 (GRCm39) |
missense |
probably benign |
0.42 |
IGL00514:Stag3
|
APN |
5 |
138,298,397 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00961:Stag3
|
APN |
5 |
138,296,611 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01923:Stag3
|
APN |
5 |
138,287,492 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02252:Stag3
|
APN |
5 |
138,300,810 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Stag3
|
APN |
5 |
138,289,628 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Stag3
|
APN |
5 |
138,280,247 (GRCm39) |
nonsense |
probably null |
|
IGL02869:Stag3
|
APN |
5 |
138,280,955 (GRCm39) |
missense |
probably damaging |
0.96 |
thor
|
UTSW |
5 |
138,299,298 (GRCm39) |
critical splice donor site |
probably null |
|
R0016:Stag3
|
UTSW |
5 |
138,289,643 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0038:Stag3
|
UTSW |
5 |
138,299,298 (GRCm39) |
critical splice donor site |
probably null |
|
R0038:Stag3
|
UTSW |
5 |
138,299,298 (GRCm39) |
critical splice donor site |
probably null |
|
R0046:Stag3
|
UTSW |
5 |
138,281,285 (GRCm39) |
splice site |
probably benign |
|
R0046:Stag3
|
UTSW |
5 |
138,281,285 (GRCm39) |
splice site |
probably benign |
|
R1455:Stag3
|
UTSW |
5 |
138,309,997 (GRCm39) |
missense |
probably benign |
0.00 |
R1512:Stag3
|
UTSW |
5 |
138,296,247 (GRCm39) |
missense |
probably benign |
0.32 |
R1530:Stag3
|
UTSW |
5 |
138,295,674 (GRCm39) |
missense |
probably damaging |
0.99 |
R1608:Stag3
|
UTSW |
5 |
138,296,901 (GRCm39) |
splice site |
probably null |
|
R1736:Stag3
|
UTSW |
5 |
138,302,771 (GRCm39) |
splice site |
probably benign |
|
R1969:Stag3
|
UTSW |
5 |
138,298,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R2034:Stag3
|
UTSW |
5 |
138,296,263 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2214:Stag3
|
UTSW |
5 |
138,299,528 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2281:Stag3
|
UTSW |
5 |
138,296,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R2411:Stag3
|
UTSW |
5 |
138,281,290 (GRCm39) |
splice site |
probably benign |
|
R3792:Stag3
|
UTSW |
5 |
138,296,611 (GRCm39) |
missense |
probably benign |
0.01 |
R3887:Stag3
|
UTSW |
5 |
138,297,101 (GRCm39) |
missense |
probably damaging |
0.99 |
R4255:Stag3
|
UTSW |
5 |
138,289,143 (GRCm39) |
missense |
probably damaging |
0.98 |
R4777:Stag3
|
UTSW |
5 |
138,307,461 (GRCm39) |
unclassified |
probably benign |
|
R4842:Stag3
|
UTSW |
5 |
138,307,627 (GRCm39) |
splice site |
probably null |
|
R4854:Stag3
|
UTSW |
5 |
138,294,956 (GRCm39) |
splice site |
probably null |
|
R5045:Stag3
|
UTSW |
5 |
138,302,740 (GRCm39) |
missense |
probably damaging |
1.00 |
R5631:Stag3
|
UTSW |
5 |
138,294,139 (GRCm39) |
missense |
probably damaging |
0.96 |
R5729:Stag3
|
UTSW |
5 |
138,288,485 (GRCm39) |
missense |
possibly damaging |
0.76 |
R5894:Stag3
|
UTSW |
5 |
138,297,100 (GRCm39) |
missense |
probably damaging |
0.99 |
R6004:Stag3
|
UTSW |
5 |
138,287,468 (GRCm39) |
missense |
probably damaging |
1.00 |
R6172:Stag3
|
UTSW |
5 |
138,298,105 (GRCm39) |
missense |
probably benign |
0.41 |
R6503:Stag3
|
UTSW |
5 |
138,302,682 (GRCm39) |
missense |
probably damaging |
0.96 |
R6545:Stag3
|
UTSW |
5 |
138,296,614 (GRCm39) |
missense |
possibly damaging |
0.84 |
R6736:Stag3
|
UTSW |
5 |
138,299,761 (GRCm39) |
missense |
probably damaging |
0.98 |
R6861:Stag3
|
UTSW |
5 |
138,302,969 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7012:Stag3
|
UTSW |
5 |
138,295,871 (GRCm39) |
splice site |
probably null |
|
R7358:Stag3
|
UTSW |
5 |
138,299,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R7378:Stag3
|
UTSW |
5 |
138,280,222 (GRCm39) |
missense |
probably benign |
0.00 |
R7392:Stag3
|
UTSW |
5 |
138,289,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R7395:Stag3
|
UTSW |
5 |
138,280,207 (GRCm39) |
missense |
probably benign |
0.33 |
R7818:Stag3
|
UTSW |
5 |
138,299,705 (GRCm39) |
missense |
probably benign |
0.00 |
R8017:Stag3
|
UTSW |
5 |
138,299,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8019:Stag3
|
UTSW |
5 |
138,299,465 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8076:Stag3
|
UTSW |
5 |
138,281,404 (GRCm39) |
missense |
probably damaging |
0.96 |
R8393:Stag3
|
UTSW |
5 |
138,295,017 (GRCm39) |
missense |
probably damaging |
0.98 |
R8405:Stag3
|
UTSW |
5 |
138,302,914 (GRCm39) |
missense |
probably damaging |
0.99 |
R8417:Stag3
|
UTSW |
5 |
138,306,850 (GRCm39) |
missense |
probably benign |
|
R8734:Stag3
|
UTSW |
5 |
138,310,050 (GRCm39) |
missense |
probably benign |
0.36 |
R8848:Stag3
|
UTSW |
5 |
138,288,528 (GRCm39) |
missense |
probably null |
0.97 |
R8966:Stag3
|
UTSW |
5 |
138,289,666 (GRCm39) |
missense |
probably damaging |
0.99 |
R9029:Stag3
|
UTSW |
5 |
138,296,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R9292:Stag3
|
UTSW |
5 |
138,299,712 (GRCm39) |
missense |
probably benign |
0.01 |
R9410:Stag3
|
UTSW |
5 |
138,297,601 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9645:Stag3
|
UTSW |
5 |
138,299,701 (GRCm39) |
missense |
possibly damaging |
0.78 |
R9723:Stag3
|
UTSW |
5 |
138,298,103 (GRCm39) |
missense |
probably benign |
|
Z1177:Stag3
|
UTSW |
5 |
138,299,554 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
Posted On |
2011-07-12 |