Incidental Mutation 'R4777:Stag3'
ID |
472974 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag3
|
Ensembl Gene |
ENSMUSG00000036928 |
Gene Name |
STAG3 cohesin complex component |
Synonyms |
SA-2, stromalin 3 |
MMRRC Submission |
041992-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4777 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to T
at 138307461 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160849]
[ENSMUST00000162245]
|
AlphaFold |
O70576 |
Predicted Effect |
silent
Transcript: ENSMUST00000048028
|
SMART Domains |
Protein: ENSMUSP00000040945 Gene: ENSMUSG00000036928
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 |
noncoding transcript
Transcript: ENSMUST00000159483
|
Predicted Effect |
unknown
Transcript: ENSMUST00000160849
AA Change: R137S
|
SMART Domains |
Protein: ENSMUSP00000125376 Gene: ENSMUSG00000036928 AA Change: R137S
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 |
silent
Transcript: ENSMUST00000162245
|
SMART Domains |
Protein: ENSMUSP00000125523 Gene: ENSMUSG00000036928
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: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.7%
|
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: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
A |
C |
3: 137,771,503 (GRCm39) |
S231R |
probably benign |
Het |
5730455P16Rik |
A |
T |
11: 80,265,041 (GRCm39) |
I137N |
probably damaging |
Het |
Abhd10 |
G |
A |
16: 45,557,279 (GRCm39) |
Q176* |
probably null |
Het |
Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
Ankrd36 |
T |
C |
11: 5,557,120 (GRCm39) |
V356A |
probably benign |
Het |
Atp1a1 |
A |
G |
3: 101,502,312 (GRCm39) |
|
probably null |
Het |
Bmp8b |
G |
A |
4: 123,015,793 (GRCm39) |
R260Q |
possibly damaging |
Het |
C2cd3 |
T |
A |
7: 100,065,539 (GRCm39) |
V775D |
possibly damaging |
Het |
Cacna1b |
T |
A |
2: 24,622,337 (GRCm39) |
I216F |
probably damaging |
Het |
Capn5 |
T |
A |
7: 97,780,925 (GRCm39) |
N284I |
probably damaging |
Het |
Cbr1 |
C |
A |
16: 93,406,942 (GRCm39) |
D219E |
probably benign |
Het |
Cdca2 |
C |
T |
14: 67,950,589 (GRCm39) |
R114Q |
probably damaging |
Het |
Cdh20 |
G |
A |
1: 109,922,055 (GRCm39) |
W49* |
probably null |
Het |
Cep152 |
C |
T |
2: 125,406,015 (GRCm39) |
V1506I |
probably benign |
Het |
Cfap97 |
C |
T |
8: 46,648,334 (GRCm39) |
Q537* |
probably null |
Het |
Cpsf2 |
T |
A |
12: 101,963,091 (GRCm39) |
V385E |
probably damaging |
Het |
Dse |
A |
G |
10: 34,029,584 (GRCm39) |
V502A |
possibly damaging |
Het |
Fam171a1 |
T |
A |
2: 3,224,550 (GRCm39) |
F300L |
probably benign |
Het |
Fnip1 |
T |
G |
11: 54,391,382 (GRCm39) |
N438K |
probably damaging |
Het |
Fstl5 |
C |
T |
3: 76,500,807 (GRCm39) |
T412M |
probably damaging |
Het |
Gm11938 |
T |
A |
11: 99,494,059 (GRCm39) |
Q12L |
unknown |
Het |
Hcls1 |
G |
T |
16: 36,775,678 (GRCm39) |
A171S |
probably damaging |
Het |
Hcn1 |
ACAGCAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
ACAGCAGCAGCAGCAGCAGCAACAGCAACAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGC |
13: 118,112,269 (GRCm39) |
|
probably benign |
Het |
Hydin |
G |
T |
8: 111,137,096 (GRCm39) |
C633F |
probably damaging |
Het |
Ica1 |
A |
T |
6: 8,644,145 (GRCm39) |
D381E |
probably benign |
Het |
Ift74 |
A |
G |
4: 94,541,234 (GRCm39) |
K220E |
probably benign |
Het |
Igfn1 |
A |
T |
1: 135,882,600 (GRCm39) |
D2748E |
probably benign |
Het |
Il16 |
A |
C |
7: 83,300,104 (GRCm39) |
D396E |
probably benign |
Het |
Impdh1 |
G |
T |
6: 29,205,201 (GRCm39) |
A200E |
possibly damaging |
Het |
Itga4 |
C |
T |
2: 79,144,054 (GRCm39) |
T647I |
possibly damaging |
Het |
Jpt1 |
A |
T |
11: 115,391,497 (GRCm39) |
M104K |
probably benign |
Het |
Krt73 |
C |
A |
15: 101,702,436 (GRCm39) |
A476S |
probably benign |
Het |
Lama3 |
T |
C |
18: 12,546,828 (GRCm39) |
Y363H |
probably damaging |
Het |
Lgr4 |
C |
T |
2: 109,827,027 (GRCm39) |
P177L |
probably damaging |
Het |
Lrp2 |
T |
C |
2: 69,312,608 (GRCm39) |
D2560G |
probably damaging |
Het |
Ly6m |
T |
C |
15: 74,752,532 (GRCm39) |
N48S |
probably benign |
Het |
Macf1 |
A |
T |
4: 123,270,295 (GRCm39) |
F6617I |
probably damaging |
Het |
Mcf2l |
T |
A |
8: 13,068,051 (GRCm39) |
|
probably null |
Het |
Mcub |
T |
A |
3: 129,763,600 (GRCm39) |
Q42L |
probably damaging |
Het |
Mfsd9 |
C |
T |
1: 40,820,700 (GRCm39) |
V150I |
possibly damaging |
Het |
Myo15b |
T |
C |
11: 115,770,478 (GRCm39) |
V96A |
probably damaging |
Het |
Nfkb2 |
G |
T |
19: 46,296,006 (GRCm39) |
E170D |
probably benign |
Het |
Or10aa3 |
T |
G |
1: 173,878,244 (GRCm39) |
Y102D |
probably damaging |
Het |
Or10g6 |
T |
C |
9: 39,933,994 (GRCm39) |
F102L |
possibly damaging |
Het |
Or1r1 |
A |
G |
11: 73,875,221 (GRCm39) |
V71A |
probably benign |
Het |
Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
Pinlyp |
T |
A |
7: 24,241,568 (GRCm39) |
I153F |
possibly damaging |
Het |
Plk2 |
A |
C |
13: 110,534,307 (GRCm39) |
M296L |
probably benign |
Het |
Plvap |
T |
C |
8: 71,960,630 (GRCm39) |
Y262C |
probably benign |
Het |
Ppfia3 |
C |
A |
7: 44,990,581 (GRCm39) |
G1066V |
probably damaging |
Het |
Prokr1 |
A |
G |
6: 87,565,842 (GRCm39) |
M1T |
probably null |
Het |
Ptgs2 |
G |
T |
1: 149,981,138 (GRCm39) |
A474S |
probably benign |
Het |
Pth2r |
A |
G |
1: 65,427,676 (GRCm39) |
T450A |
possibly damaging |
Het |
Ranbp6 |
A |
T |
19: 29,789,037 (GRCm39) |
F438L |
probably damaging |
Het |
Ripor1 |
A |
T |
8: 106,341,622 (GRCm39) |
Q102L |
probably damaging |
Het |
Rprd2 |
C |
T |
3: 95,694,686 (GRCm39) |
V116I |
probably benign |
Het |
Sacs |
T |
C |
14: 61,449,258 (GRCm39) |
V3768A |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,913,832 (GRCm39) |
Y1075H |
probably damaging |
Het |
Senp3 |
C |
T |
11: 69,569,063 (GRCm39) |
G366D |
probably damaging |
Het |
Smim1 |
T |
C |
4: 154,108,107 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,886,447 (GRCm39) |
I817V |
probably damaging |
Het |
Stk17b |
A |
T |
1: 53,810,867 (GRCm39) |
H79Q |
probably damaging |
Het |
Svil |
A |
G |
18: 5,088,813 (GRCm39) |
K1296E |
probably damaging |
Het |
Tmem117 |
T |
A |
15: 94,992,331 (GRCm39) |
Y330* |
probably null |
Het |
Tnxb |
G |
T |
17: 34,890,917 (GRCm39) |
R420L |
probably damaging |
Het |
Trim9 |
C |
A |
12: 70,393,845 (GRCm39) |
C33F |
probably damaging |
Het |
Usp29 |
A |
C |
7: 6,965,747 (GRCm39) |
Y530S |
probably benign |
Het |
Vps26b |
T |
C |
9: 26,921,752 (GRCm39) |
T258A |
possibly damaging |
Het |
Vrtn |
C |
A |
12: 84,695,600 (GRCm39) |
H117N |
probably damaging |
Het |
Wdr33 |
C |
T |
18: 32,014,301 (GRCm39) |
H388Y |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,821,186 (GRCm39) |
V222D |
possibly damaging |
Het |
Zfp953 |
A |
G |
13: 67,491,193 (GRCm39) |
I253T |
probably benign |
Het |
Zfy2 |
A |
G |
Y: 2,116,194 (GRCm39) |
V282A |
probably benign |
Het |
Zscan29 |
A |
T |
2: 120,999,805 (GRCm39) |
V132D |
probably damaging |
Het |
Zswim4 |
G |
T |
8: 84,963,586 (GRCm39) |
D16E |
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 |
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 |
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'- TCCAGCATAGCATGTCTCTCTAG -3'
(R):5'- CTGAACTAAGTCTGCAAACTTTCC -3'
Sequencing Primer
(F):5'- GTAAACAAAGGGCTGTTCCTC -3'
(R):5'- GTCAAATTGGCCATCACTGG -3'
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Posted On |
2017-04-14 |