Incidental Mutation 'IGL02424:Stag3'
| ID |
292838 |
| 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 # |
IGL02424
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 138289628 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 266
(L266P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160729]
[ENSMUST00000161691]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000048028
AA Change: L266P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: L266P
| 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: ENSMUST00000160729
|
| SMART Domains |
Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161113
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000161691
|
| SMART Domains |
Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162245
AA Change: L266P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: L266P
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930579F01Rik |
A |
G |
3: 137,880,466 (GRCm39) |
|
probably benign |
Het |
| A930011G23Rik |
A |
G |
5: 99,377,236 (GRCm39) |
S404P |
probably damaging |
Het |
| A930011G23Rik |
G |
A |
5: 99,377,241 (GRCm39) |
P402L |
probably damaging |
Het |
| Abl1 |
G |
A |
2: 31,691,144 (GRCm39) |
V888I |
probably benign |
Het |
| Adcy9 |
G |
T |
16: 4,106,461 (GRCm39) |
N884K |
probably damaging |
Het |
| Alyref |
T |
C |
11: 120,486,133 (GRCm39) |
N176D |
probably benign |
Het |
| Amtn |
T |
C |
5: 88,529,456 (GRCm39) |
|
probably benign |
Het |
| Baz1b |
T |
C |
5: 135,246,833 (GRCm39) |
Y761H |
probably damaging |
Het |
| Cckar |
T |
A |
5: 53,863,770 (GRCm39) |
T64S |
possibly damaging |
Het |
| Csmd1 |
A |
G |
8: 16,142,340 (GRCm39) |
F1521S |
probably benign |
Het |
| Cyp11b1 |
T |
C |
15: 74,711,085 (GRCm39) |
T198A |
probably benign |
Het |
| Def8 |
G |
T |
8: 124,186,387 (GRCm39) |
L399F |
possibly damaging |
Het |
| Epha7 |
A |
T |
4: 28,948,790 (GRCm39) |
|
probably benign |
Het |
| Ets1 |
T |
A |
9: 32,665,589 (GRCm39) |
Y181* |
probably null |
Het |
| Fas |
A |
T |
19: 34,304,434 (GRCm39) |
M232L |
probably damaging |
Het |
| Fkbp10 |
T |
A |
11: 100,306,782 (GRCm39) |
V37E |
probably damaging |
Het |
| Galnt3 |
A |
G |
2: 65,926,132 (GRCm39) |
|
probably null |
Het |
| Gdap1 |
T |
C |
1: 17,231,402 (GRCm39) |
V249A |
probably damaging |
Het |
| Gm5356 |
T |
A |
8: 89,913,594 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7732 |
A |
G |
17: 21,349,709 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr3 |
G |
T |
4: 132,938,405 (GRCm39) |
A89E |
probably damaging |
Het |
| Kat2a |
A |
G |
11: 100,601,973 (GRCm39) |
|
probably null |
Het |
| Kit |
T |
G |
5: 75,799,766 (GRCm39) |
D499E |
probably benign |
Het |
| Kmt2a |
C |
T |
9: 44,735,932 (GRCm39) |
|
probably benign |
Het |
| Med12l |
T |
C |
3: 59,000,143 (GRCm39) |
L666P |
probably benign |
Het |
| Mmp2 |
T |
G |
8: 93,562,635 (GRCm39) |
C291G |
probably damaging |
Het |
| Neb |
A |
G |
2: 52,154,203 (GRCm39) |
Y2303H |
probably damaging |
Het |
| Or14a259 |
C |
A |
7: 86,012,688 (GRCm39) |
V286L |
probably benign |
Het |
| Or1d2 |
T |
A |
11: 74,256,299 (GRCm39) |
M268K |
probably benign |
Het |
| Or1o2 |
T |
C |
17: 37,543,263 (GRCm39) |
|
probably benign |
Het |
| Pde1b |
T |
A |
15: 103,436,646 (GRCm39) |
|
probably benign |
Het |
| Prl7a2 |
A |
C |
13: 27,851,953 (GRCm39) |
C9G |
probably null |
Het |
| Rabl6 |
A |
G |
2: 25,477,469 (GRCm39) |
V327A |
probably benign |
Het |
| Robo2 |
T |
A |
16: 73,770,189 (GRCm39) |
I516F |
possibly damaging |
Het |
| Ror2 |
C |
T |
13: 53,264,764 (GRCm39) |
S764N |
probably damaging |
Het |
| Slc35a3 |
G |
A |
3: 116,488,267 (GRCm39) |
T140I |
possibly damaging |
Het |
| Slc38a7 |
A |
G |
8: 96,568,200 (GRCm39) |
V395A |
probably damaging |
Het |
| Strn |
A |
G |
17: 78,991,780 (GRCm39) |
S180P |
probably damaging |
Het |
| Sulf1 |
A |
G |
1: 12,867,064 (GRCm39) |
T83A |
probably benign |
Het |
| Vmn1r69 |
T |
C |
7: 10,314,585 (GRCm39) |
I49V |
probably benign |
Het |
| Vrk2 |
G |
A |
11: 26,426,564 (GRCm39) |
P387L |
probably benign |
Het |
| Xdh |
A |
T |
17: 74,233,565 (GRCm39) |
M183K |
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 |
138,280,247 (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 |
2015-04-16 |
Incidental Mutation