Incidental Mutation 'R2034:Stag3'
| ID |
224313 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
040041-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2034 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138296263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 442
(E442G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000048028
AA Change: E442G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: E442G
| 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 |
possibly damaging
Transcript: ENSMUST00000162245
AA Change: E442G
PolyPhen 2
Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: E442G
| 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 |
|
| Meta Mutation Damage Score |
0.2252 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
100% (71/71) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
C |
11: 69,791,385 (GRCm39) |
I65V |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,242,628 (GRCm39) |
N1497S |
possibly damaging |
Het |
| Afmid |
C |
A |
11: 117,726,061 (GRCm39) |
N184K |
probably benign |
Het |
| Ampd2 |
A |
T |
3: 107,984,679 (GRCm39) |
I459N |
possibly damaging |
Het |
| Anapc1 |
T |
C |
2: 128,490,378 (GRCm39) |
D1018G |
possibly damaging |
Het |
| Ano9 |
T |
A |
7: 140,688,048 (GRCm39) |
I223F |
probably damaging |
Het |
| B3gnt6 |
A |
G |
7: 97,843,225 (GRCm39) |
L245P |
possibly damaging |
Het |
| Bag6 |
G |
A |
17: 35,363,668 (GRCm39) |
R784Q |
probably damaging |
Het |
| Brca1 |
C |
G |
11: 101,380,675 (GRCm39) |
S1786T |
probably benign |
Het |
| Btbd3 |
T |
G |
2: 138,120,903 (GRCm39) |
S26A |
probably benign |
Het |
| Cacna1d |
C |
A |
14: 29,811,820 (GRCm39) |
V1277L |
probably damaging |
Het |
| Casp12 |
C |
T |
9: 5,346,491 (GRCm39) |
T6I |
probably damaging |
Het |
| Col7a1 |
T |
C |
9: 108,792,075 (GRCm39) |
V1262A |
unknown |
Het |
| Crh |
C |
A |
3: 19,748,262 (GRCm39) |
G127C |
probably damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,770,882 (GRCm39) |
L64* |
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Ddc |
T |
A |
11: 11,830,456 (GRCm39) |
I63L |
probably benign |
Het |
| Eif3a |
C |
T |
19: 60,750,568 (GRCm39) |
|
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,819,838 (GRCm39) |
N5190K |
probably benign |
Het |
| Gm5420 |
A |
G |
10: 21,567,512 (GRCm39) |
|
noncoding transcript |
Het |
| Grb14 |
A |
G |
2: 64,753,873 (GRCm39) |
|
probably benign |
Het |
| Gsap |
A |
T |
5: 21,475,593 (GRCm39) |
I545F |
probably damaging |
Het |
| Hectd1 |
A |
T |
12: 51,803,899 (GRCm39) |
|
probably null |
Het |
| Helz2 |
G |
A |
2: 180,874,371 (GRCm39) |
P2041L |
probably damaging |
Het |
| Herc1 |
G |
A |
9: 66,349,254 (GRCm39) |
A2038T |
probably benign |
Het |
| Il10 |
C |
A |
1: 130,951,922 (GRCm39) |
Q152K |
probably benign |
Het |
| Klrg1 |
A |
G |
6: 122,256,596 (GRCm39) |
|
probably null |
Het |
| Lrig2 |
T |
C |
3: 104,401,408 (GRCm39) |
T160A |
probably benign |
Het |
| Mmd2 |
A |
T |
5: 142,560,939 (GRCm39) |
|
probably null |
Het |
| Mmp2 |
C |
T |
8: 93,563,540 (GRCm39) |
S338F |
probably damaging |
Het |
| Nalcn |
T |
G |
14: 123,521,015 (GRCm39) |
D1630A |
probably benign |
Het |
| Ncoa2 |
T |
C |
1: 13,235,207 (GRCm39) |
S909G |
probably benign |
Het |
| Neb |
A |
T |
2: 52,170,623 (GRCm39) |
M1683K |
possibly damaging |
Het |
| Nfe2l3 |
A |
G |
6: 51,435,350 (GRCm39) |
I637V |
possibly damaging |
Het |
| Npw |
G |
A |
17: 24,877,242 (GRCm39) |
S53F |
probably damaging |
Het |
| Nrbf2 |
A |
T |
10: 67,111,343 (GRCm39) |
|
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Nup188 |
T |
A |
2: 30,200,097 (GRCm39) |
|
probably benign |
Het |
| Or4k15c |
T |
C |
14: 50,321,440 (GRCm39) |
M233V |
probably benign |
Het |
| Or5b21 |
T |
A |
19: 12,839,151 (GRCm39) |
M4K |
possibly damaging |
Het |
| Parp4 |
A |
T |
14: 56,871,720 (GRCm39) |
I1133F |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,546 (GRCm39) |
V292A |
probably benign |
Het |
| Pcnx2 |
A |
G |
8: 126,545,406 (GRCm39) |
|
probably null |
Het |
| Phf2 |
A |
G |
13: 48,971,206 (GRCm39) |
S489P |
unknown |
Het |
| Pik3r5 |
T |
A |
11: 68,384,403 (GRCm39) |
N598K |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,261,516 (GRCm39) |
E432D |
probably damaging |
Het |
| Pink1 |
T |
C |
4: 138,045,343 (GRCm39) |
I274V |
possibly damaging |
Het |
| Pkhd1 |
G |
A |
1: 20,270,893 (GRCm39) |
T3220I |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,462,902 (GRCm39) |
I890V |
probably benign |
Het |
| Pomgnt1 |
T |
C |
4: 116,015,124 (GRCm39) |
V492A |
possibly damaging |
Het |
| Prp2 |
G |
T |
6: 132,572,947 (GRCm39) |
|
probably null |
Het |
| Rabl6 |
T |
C |
2: 25,475,444 (GRCm39) |
E543G |
possibly damaging |
Het |
| Rgp1 |
T |
A |
4: 43,581,605 (GRCm39) |
|
probably null |
Het |
| Rps6kb2 |
T |
C |
19: 4,211,106 (GRCm39) |
T140A |
probably damaging |
Het |
| S100a11 |
T |
C |
3: 93,433,429 (GRCm39) |
I91T |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,774,569 (GRCm39) |
L230P |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,120,737 (GRCm39) |
D370G |
probably damaging |
Het |
| Sim2 |
A |
C |
16: 93,886,801 (GRCm39) |
I43L |
probably damaging |
Het |
| Skp2 |
C |
A |
15: 9,113,786 (GRCm39) |
G376C |
probably damaging |
Het |
| Slc14a2 |
A |
G |
18: 78,226,798 (GRCm39) |
L419P |
probably damaging |
Het |
| Srgap1 |
C |
T |
10: 121,628,651 (GRCm39) |
E817K |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,890,645 (GRCm39) |
N361S |
probably damaging |
Het |
| Tmco6 |
A |
G |
18: 36,870,909 (GRCm39) |
|
probably null |
Het |
| Tmem104 |
T |
A |
11: 115,134,373 (GRCm39) |
I303N |
probably benign |
Het |
| Ttll6 |
G |
T |
11: 96,026,352 (GRCm39) |
D86Y |
probably damaging |
Het |
| Tut4 |
C |
T |
4: 108,369,392 (GRCm39) |
R651W |
probably damaging |
Het |
| Vmn1r120 |
T |
G |
7: 20,786,883 (GRCm39) |
E276A |
possibly damaging |
Het |
| Vmn1r64 |
A |
G |
7: 5,886,988 (GRCm39) |
M185T |
probably benign |
Het |
| Vmn2r85 |
A |
T |
10: 130,262,242 (GRCm39) |
|
probably benign |
Het |
| Vwa3a |
A |
T |
7: 120,381,868 (GRCm39) |
K568* |
probably null |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTTGCTAGGAGGGTCAAACAG -3'
(R):5'- GGCCAAGGAACTCCCGTAAG -3'
Sequencing Primer
(F):5'- CTTGCTAGGAGGGTCAAACAGATTAG -3'
(R):5'- GCCAAGGAACTCCCGTAAGATTAAG -3'
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| Posted On |
2014-08-25 |
Incidental Mutation