Incidental Mutation 'R2214:Stag3'
| ID |
241010 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
040216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2214 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138299528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Leucine
at position 849
(S849L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160849]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048028
AA Change: S849L
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: S849L
| 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 |
probably benign
Transcript: ENSMUST00000160849
|
| SMART Domains |
Protein: ENSMUSP00000125376
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
80 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
122 |
132 |
N/A |
INTRINSIC |
|
low complexity region
|
138 |
152 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161615
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000162245
AA Change: S849L
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: S849L
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
T |
C |
16: 30,926,946 (GRCm39) |
Y516C |
probably benign |
Het |
| Adam22 |
C |
T |
5: 8,186,805 (GRCm39) |
|
probably null |
Het |
| Akap8l |
T |
C |
17: 32,557,799 (GRCm39) |
|
probably null |
Het |
| Casr |
T |
C |
16: 36,336,120 (GRCm39) |
Y63C |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,048,047 (GRCm39) |
D781G |
possibly damaging |
Het |
| Col9a1 |
C |
A |
1: 24,247,283 (GRCm39) |
P168Q |
probably damaging |
Het |
| Dnm2 |
T |
C |
9: 21,397,019 (GRCm39) |
|
probably null |
Het |
| Dst |
C |
T |
1: 34,310,482 (GRCm39) |
T6325M |
probably damaging |
Het |
| Ercc4 |
C |
A |
16: 12,927,888 (GRCm39) |
D19E |
probably damaging |
Het |
| Gm1110 |
C |
A |
9: 26,813,786 (GRCm39) |
V198L |
probably benign |
Het |
| Gm8674 |
T |
A |
13: 50,055,396 (GRCm39) |
|
noncoding transcript |
Het |
| Grm7 |
A |
T |
6: 111,335,958 (GRCm39) |
I790F |
probably damaging |
Het |
| Habp2 |
A |
G |
19: 56,306,249 (GRCm39) |
D445G |
possibly damaging |
Het |
| Kat7 |
G |
A |
11: 95,166,631 (GRCm39) |
T517I |
probably damaging |
Het |
| Kbtbd11 |
T |
A |
8: 15,079,178 (GRCm39) |
D592E |
possibly damaging |
Het |
| Lgals8 |
T |
A |
13: 12,469,713 (GRCm39) |
Q82L |
probably benign |
Het |
| Lmtk3 |
A |
G |
7: 45,444,277 (GRCm39) |
|
probably benign |
Het |
| Map2 |
A |
T |
1: 66,459,345 (GRCm39) |
D1530V |
probably damaging |
Het |
| Map2k6 |
G |
A |
11: 110,387,167 (GRCm39) |
V180I |
probably damaging |
Het |
| Map3k5 |
T |
A |
10: 19,902,035 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,623,327 (GRCm39) |
E2059G |
probably benign |
Het |
| Myh10 |
A |
G |
11: 68,673,953 (GRCm39) |
D660G |
probably damaging |
Het |
| Myo16 |
T |
A |
8: 10,488,803 (GRCm39) |
V658E |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 125,953,487 (GRCm39) |
S1090T |
possibly damaging |
Het |
| Nhlrc3 |
T |
C |
3: 53,363,875 (GRCm39) |
H217R |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,166,520 (GRCm39) |
I118F |
probably damaging |
Het |
| Or14a259 |
T |
A |
7: 86,013,414 (GRCm39) |
I44F |
probably benign |
Het |
| Or1e29 |
A |
T |
11: 73,667,655 (GRCm39) |
L166* |
probably null |
Het |
| Or4p20 |
C |
T |
2: 88,253,461 (GRCm39) |
V303M |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,947,499 (GRCm39) |
Y1053C |
probably damaging |
Het |
| Pfkfb4 |
T |
A |
9: 108,834,677 (GRCm39) |
F117I |
probably benign |
Het |
| Pp2d1 |
T |
C |
17: 53,822,424 (GRCm39) |
Y214C |
probably benign |
Het |
| Prr7 |
C |
A |
13: 55,620,613 (GRCm39) |
S207* |
probably null |
Het |
| Ptprh |
T |
A |
7: 4,555,921 (GRCm39) |
Q715L |
possibly damaging |
Het |
| Rasgrp1 |
A |
T |
2: 117,115,646 (GRCm39) |
D647E |
probably damaging |
Het |
| Rnf20 |
T |
A |
4: 49,648,344 (GRCm39) |
M384K |
possibly damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,424,896 (GRCm39) |
C37S |
possibly damaging |
Het |
| Serpinb9f |
C |
A |
13: 33,518,592 (GRCm39) |
T364K |
probably benign |
Het |
| Sorbs1 |
C |
T |
19: 40,285,075 (GRCm39) |
A641T |
probably damaging |
Het |
| Srrm2 |
T |
C |
17: 24,035,719 (GRCm39) |
|
probably benign |
Het |
| Syt15 |
A |
T |
14: 33,944,989 (GRCm39) |
S179C |
probably damaging |
Het |
| Tapbp |
T |
C |
17: 34,139,300 (GRCm39) |
F90L |
possibly damaging |
Het |
| Timm23 |
A |
T |
14: 31,920,944 (GRCm39) |
D49E |
probably damaging |
Het |
| Tmcc1 |
C |
CAT |
6: 116,019,831 (GRCm39) |
|
probably null |
Het |
| Tmem174 |
A |
C |
13: 98,773,757 (GRCm39) |
S24R |
possibly damaging |
Het |
| Tmem63a |
A |
G |
1: 180,788,679 (GRCm39) |
S339G |
probably benign |
Het |
| Tsc22d2 |
A |
G |
3: 58,323,627 (GRCm39) |
Y173C |
probably damaging |
Het |
| Ubap2 |
A |
G |
4: 41,199,714 (GRCm39) |
|
probably null |
Het |
| Upp1 |
T |
A |
11: 9,086,033 (GRCm39) |
V290E |
probably benign |
Het |
| Uqcc4 |
T |
C |
17: 25,403,699 (GRCm39) |
V13A |
probably benign |
Het |
| Usp17lb |
A |
T |
7: 104,490,639 (GRCm39) |
M96K |
probably benign |
Het |
| Wdr20rt |
A |
G |
12: 65,274,187 (GRCm39) |
E449G |
probably damaging |
Het |
| Zkscan8 |
A |
T |
13: 21,705,082 (GRCm39) |
S286T |
probably benign |
Het |
|
| Other mutations in Stag3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00095:Stag3
|
APN |
5 |
138,297,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAGTTTGAGAAGACTGTTCAC -3'
(R):5'- ATCCTCCTGTGACTGACCTG -3'
Sequencing Primer
(F):5'- TTTGAGAAGACTGTTCACCAGGG -3'
(R):5'- TGTGACTGACCTGCCCAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation