Incidental Mutation 'R8393:Stag3'
| ID |
647463 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
067811-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8393 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138295017 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 347
(M347T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048028
AA Change: M347T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: M347T
| 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 damaging
Transcript: ENSMUST00000162245
AA Change: M347T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: M347T
| 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: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acot11 |
T |
C |
4: 106,617,390 (GRCm39) |
T239A |
probably benign |
Het |
| Adgrg7 |
A |
G |
16: 56,582,477 (GRCm39) |
S258P |
probably damaging |
Het |
| Capn10 |
T |
A |
1: 92,871,130 (GRCm39) |
D313E |
probably benign |
Het |
| Caprin2 |
A |
G |
6: 148,770,650 (GRCm39) |
V448A |
probably benign |
Het |
| Casr |
A |
G |
16: 36,330,566 (GRCm39) |
V256A |
probably benign |
Het |
| Cped1 |
A |
G |
6: 22,222,465 (GRCm39) |
T742A |
possibly damaging |
Het |
| Cyp2c39 |
G |
T |
19: 39,525,255 (GRCm39) |
R186L |
possibly damaging |
Het |
| Dazl |
A |
T |
17: 50,588,294 (GRCm39) |
S294T |
probably benign |
Het |
| Dnah17 |
C |
A |
11: 117,947,855 (GRCm39) |
V2982F |
probably damaging |
Het |
| Enpp3 |
C |
A |
10: 24,702,139 (GRCm39) |
C71F |
probably damaging |
Het |
| Fam234a |
A |
G |
17: 26,437,149 (GRCm39) |
C177R |
probably damaging |
Het |
| Fbxl5 |
A |
C |
5: 43,925,433 (GRCm39) |
Y186D |
possibly damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,162,494 (GRCm39) |
T238A |
probably benign |
Het |
| Fcgbp |
A |
G |
7: 27,806,815 (GRCm39) |
H2261R |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,183,207 (GRCm39) |
H148Y |
probably damaging |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
A |
1: 43,071,395 (GRCm39) |
H13N |
probably benign |
Het |
| Irf4 |
A |
G |
13: 30,947,610 (GRCm39) |
D438G |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,964 (GRCm39) |
V190A |
probably benign |
Het |
| Klre1 |
A |
T |
6: 129,557,025 (GRCm39) |
K42N |
probably damaging |
Het |
| Lmbrd2 |
C |
T |
15: 9,178,437 (GRCm39) |
T499M |
probably damaging |
Het |
| Lrrc14 |
G |
T |
15: 76,598,398 (GRCm39) |
G345C |
probably damaging |
Het |
| Matn2 |
A |
G |
15: 34,355,748 (GRCm39) |
H251R |
possibly damaging |
Het |
| Mpnd |
A |
G |
17: 56,323,568 (GRCm39) |
E477G |
probably damaging |
Het |
| Muc17 |
C |
T |
5: 137,171,179 (GRCm39) |
V151I |
|
Het |
| Nckap5l |
A |
C |
15: 99,325,050 (GRCm39) |
C484W |
probably damaging |
Het |
| Npas1 |
C |
T |
7: 16,195,266 (GRCm39) |
S354N |
probably damaging |
Het |
| Or1e25 |
T |
C |
11: 73,494,261 (GRCm39) |
L285P |
probably damaging |
Het |
| Or4k2 |
C |
A |
14: 50,424,342 (GRCm39) |
E112* |
probably null |
Het |
| Or52ab2 |
A |
T |
7: 102,969,668 (GRCm39) |
I17F |
|
Het |
| Or52e3 |
T |
C |
7: 102,869,399 (GRCm39) |
V158A |
probably benign |
Het |
| Or5w11 |
T |
C |
2: 87,459,197 (GRCm39) |
L14P |
probably damaging |
Het |
| Or6c65 |
G |
T |
10: 129,604,304 (GRCm39) |
*313L |
probably null |
Het |
| Or8d4 |
T |
A |
9: 40,038,360 (GRCm39) |
H299L |
probably benign |
Het |
| Pabpc6 |
G |
A |
17: 9,887,435 (GRCm39) |
P372L |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,791,621 (GRCm39) |
N1103D |
probably damaging |
Het |
| Prelid2 |
C |
T |
18: 42,014,313 (GRCm39) |
C171Y |
probably benign |
Het |
| R3hcc1 |
T |
C |
14: 69,942,890 (GRCm39) |
Q229R |
probably benign |
Het |
| Rapgef6 |
T |
C |
11: 54,578,487 (GRCm39) |
V1003A |
probably benign |
Het |
| Rbp3 |
T |
A |
14: 33,678,156 (GRCm39) |
H701Q |
possibly damaging |
Het |
| Resf1 |
A |
T |
6: 149,229,998 (GRCm39) |
T1015S |
possibly damaging |
Het |
| Rmdn2 |
T |
C |
17: 79,975,459 (GRCm39) |
|
probably null |
Het |
| Robo2 |
A |
T |
16: 73,775,382 (GRCm39) |
W451R |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,410,655 (GRCm39) |
M1K |
probably null |
Het |
| Senp2 |
G |
A |
16: 21,850,864 (GRCm39) |
G294R |
probably damaging |
Het |
| Setdb2 |
T |
A |
14: 59,650,180 (GRCm39) |
H478L |
probably benign |
Het |
| Slc12a4 |
G |
T |
8: 106,678,451 (GRCm39) |
A295E |
probably damaging |
Het |
| Slc12a9 |
C |
T |
5: 137,319,698 (GRCm39) |
V606M |
probably damaging |
Het |
| Slc25a30 |
T |
C |
14: 76,012,451 (GRCm39) |
K66E |
probably benign |
Het |
| Slc39a6 |
T |
C |
18: 24,732,331 (GRCm39) |
E319G |
possibly damaging |
Het |
| Sorbs3 |
T |
A |
14: 70,422,360 (GRCm39) |
T617S |
probably benign |
Het |
| Speer4a3 |
A |
T |
5: 26,158,076 (GRCm39) |
V92E |
probably damaging |
Het |
| Spef2 |
T |
G |
15: 9,676,615 (GRCm39) |
D652A |
probably benign |
Het |
| Tecpr2 |
A |
T |
12: 110,911,191 (GRCm39) |
D1076V |
probably damaging |
Het |
| Tor2a |
G |
A |
2: 32,651,648 (GRCm39) |
V288I |
probably benign |
Het |
| Usp30 |
C |
T |
5: 114,259,826 (GRCm39) |
R511* |
probably null |
Het |
| Vezt |
T |
C |
10: 93,832,704 (GRCm39) |
T236A |
probably damaging |
Het |
| Zmynd12 |
A |
T |
4: 119,305,352 (GRCm39) |
D264V |
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 |
|
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'- TTCACTATGGTAAGGGTCAGGG -3'
(R):5'- TAGACGTTTGAGTGGCAGCG -3'
Sequencing Primer
(F):5'- GAACTGGTAGAGTTAAGTCTTACCTG -3'
(R):5'- CGCAAGAAAAGGTAAAGTATTTCTG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation