Incidental Mutation 'R8405:Stag3'
| ID |
652343 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
067879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8405 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 138302914 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 1064
(T1064P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160849]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048028
AA Change: T1064P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: T1064P
| 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 |
probably benign
Transcript: ENSMUST00000159189
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160849
AA Change: T45P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000125376
Gene: ENSMUSG00000036928
AA Change: T45P
| 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 |
probably damaging
Transcript: ENSMUST00000162245
AA Change: T1064P
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: T1064P
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
98% (49/50) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadm |
T |
C |
3: 153,635,165 (GRCm39) |
|
probably benign |
Het |
| Anxa3 |
C |
A |
5: 96,978,295 (GRCm39) |
D226E |
probably benign |
Het |
| Anxa8 |
T |
C |
14: 33,819,881 (GRCm39) |
L290P |
probably damaging |
Het |
| Brd4 |
C |
A |
17: 32,448,505 (GRCm39) |
K57N |
unknown |
Het |
| Cpne8 |
T |
A |
15: 90,456,235 (GRCm39) |
Q176L |
possibly damaging |
Het |
| Csf2rb2 |
T |
C |
15: 78,172,093 (GRCm39) |
D439G |
possibly damaging |
Het |
| Csmd3 |
A |
G |
15: 47,619,379 (GRCm39) |
S1832P |
probably damaging |
Het |
| Cux1 |
A |
G |
5: 136,304,241 (GRCm39) |
S1320P |
possibly damaging |
Het |
| Cyp2t4 |
A |
T |
7: 26,856,894 (GRCm39) |
|
probably null |
Het |
| Dnah2 |
A |
T |
11: 69,349,289 (GRCm39) |
L2449Q |
probably damaging |
Het |
| Dock1 |
A |
G |
7: 134,379,192 (GRCm39) |
M640V |
probably benign |
Het |
| Efcab3 |
G |
A |
11: 104,612,024 (GRCm39) |
S622N |
probably benign |
Het |
| Ergic1 |
T |
A |
17: 26,874,096 (GRCm39) |
I274N |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,907,167 (GRCm39) |
D2945G |
probably damaging |
Het |
| Fscb |
T |
C |
12: 64,520,278 (GRCm39) |
E396G |
possibly damaging |
Het |
| Gab1 |
T |
A |
8: 81,501,594 (GRCm39) |
R581* |
probably null |
Het |
| Gabarapl1 |
A |
G |
6: 129,514,497 (GRCm39) |
D45G |
probably null |
Het |
| Gfap |
C |
A |
11: 102,782,255 (GRCm39) |
Q418H |
probably benign |
Het |
| Gfap |
T |
A |
11: 102,782,256 (GRCm39) |
Q418L |
probably benign |
Het |
| Hectd1 |
T |
A |
12: 51,874,178 (GRCm39) |
M33L |
probably benign |
Het |
| Kcnh7 |
T |
A |
2: 62,533,446 (GRCm39) |
K1144N |
probably benign |
Het |
| Lrit3 |
C |
T |
3: 129,582,301 (GRCm39) |
G562D |
probably benign |
Het |
| Mab21l1 |
A |
T |
3: 55,690,659 (GRCm39) |
Q82L |
probably damaging |
Het |
| Naip6 |
C |
T |
13: 100,436,784 (GRCm39) |
A580T |
possibly damaging |
Het |
| Nav1 |
T |
C |
1: 135,382,508 (GRCm39) |
K1258R |
unknown |
Het |
| Nbas |
C |
A |
12: 13,329,394 (GRCm39) |
A113E |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,073,356 (GRCm39) |
D162E |
possibly damaging |
Het |
| Nr2c1 |
A |
T |
10: 94,031,155 (GRCm39) |
H572L |
probably benign |
Het |
| Or52s1 |
A |
T |
7: 102,861,408 (GRCm39) |
I114F |
probably benign |
Het |
| Or56b2j |
T |
A |
7: 104,353,208 (GRCm39) |
S145T |
probably benign |
Het |
| Pcdha12 |
T |
A |
18: 37,154,250 (GRCm39) |
V323E |
possibly damaging |
Het |
| Pgm5 |
T |
A |
19: 24,705,106 (GRCm39) |
H469L |
probably benign |
Het |
| Phf8-ps |
C |
A |
17: 33,286,038 (GRCm39) |
A255S |
probably benign |
Het |
| Pja2 |
T |
C |
17: 64,616,505 (GRCm39) |
E130G |
possibly damaging |
Het |
| Ppp2r2b |
G |
C |
18: 42,778,805 (GRCm39) |
D443E |
probably benign |
Het |
| Prdm9 |
T |
A |
17: 15,764,456 (GRCm39) |
T775S |
probably benign |
Het |
| Rbm6 |
A |
G |
9: 107,730,016 (GRCm39) |
S211P |
probably benign |
Het |
| Rgl2 |
C |
T |
17: 34,152,698 (GRCm39) |
Q408* |
probably null |
Het |
| Rgs14 |
C |
T |
13: 55,530,962 (GRCm39) |
R389W |
probably damaging |
Het |
| Rtcb |
T |
C |
10: 85,793,534 (GRCm39) |
D13G |
probably benign |
Het |
| Slc23a4 |
C |
T |
6: 34,923,145 (GRCm39) |
C280Y |
probably benign |
Het |
| Slc7a5 |
G |
T |
8: 122,613,661 (GRCm39) |
T297K |
possibly damaging |
Het |
| Spef2 |
A |
G |
15: 9,612,643 (GRCm39) |
V1229A |
probably benign |
Het |
| Tnnt1 |
A |
G |
7: 4,510,592 (GRCm39) |
S211P |
probably damaging |
Het |
| Trim26 |
A |
G |
17: 37,167,095 (GRCm39) |
D262G |
possibly damaging |
Het |
| Trim30a |
A |
T |
7: 104,060,749 (GRCm39) |
Y342* |
probably null |
Het |
| Trpm7 |
T |
C |
2: 126,658,755 (GRCm39) |
I1134V |
probably benign |
Het |
| Tsc22d1 |
G |
A |
14: 76,655,734 (GRCm39) |
G738S |
probably damaging |
Het |
| Usp39 |
A |
G |
6: 72,305,521 (GRCm39) |
F421L |
probably damaging |
Het |
| Vmn2r97 |
G |
A |
17: 19,134,802 (GRCm39) |
|
probably null |
Het |
| Zfat |
T |
C |
15: 68,018,410 (GRCm39) |
Y968C |
probably damaging |
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 |
|
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 |
|
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'- GCTGGTTCTTCTCATGAGCC -3'
(R):5'- TCAAAACCCATCTCCTGTTATTAGG -3'
Sequencing Primer
(F):5'- CAAATCTTGCATTCCTGGAGC -3'
(R):5'- CCTGTTATTAGGGCAAAGTCAACTGG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation