Incidental Mutation 'R5894:Stag3'
ID |
457370 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag3
|
Ensembl Gene |
ENSMUSG00000036928 |
Gene Name |
STAG3 cohesin complex component |
Synonyms |
SA-2, stromalin 3 |
MMRRC Submission |
043238-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5894 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 138297100 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Arginine
at position 550
(I550R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000162245]
|
AlphaFold |
O70576 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000048028
AA Change: I550R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000040945 Gene: ENSMUSG00000036928 AA Change: I550R
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 |
probably damaging
Transcript: ENSMUST00000162245
AA Change: I550R
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000125523 Gene: ENSMUSG00000036928 AA Change: I550R
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: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.4%
|
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: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930503B20Rik |
T |
A |
3: 146,356,680 (GRCm39) |
E76V |
probably benign |
Het |
Adcy2 |
A |
T |
13: 68,773,971 (GRCm39) |
I1024N |
probably damaging |
Het |
Agr2 |
A |
C |
12: 36,045,509 (GRCm39) |
|
probably benign |
Het |
Alpk2 |
T |
A |
18: 65,414,143 (GRCm39) |
H1991L |
probably damaging |
Het |
Amotl2 |
T |
A |
9: 102,602,371 (GRCm39) |
M448K |
possibly damaging |
Het |
Ankhd1 |
T |
A |
18: 36,780,577 (GRCm39) |
F1876L |
probably damaging |
Het |
Arl14 |
T |
C |
3: 69,130,009 (GRCm39) |
V52A |
probably benign |
Het |
Atp6v1b2 |
T |
A |
8: 69,560,218 (GRCm39) |
|
probably null |
Het |
Bmal2 |
A |
G |
6: 146,724,732 (GRCm39) |
T409A |
possibly damaging |
Het |
Bpifb4 |
G |
A |
2: 153,782,852 (GRCm39) |
R19H |
possibly damaging |
Het |
Cdh9 |
T |
A |
15: 16,832,186 (GRCm39) |
L358I |
possibly damaging |
Het |
Ces2h |
T |
G |
8: 105,745,658 (GRCm39) |
I460M |
probably benign |
Het |
Cog2 |
T |
C |
8: 125,272,006 (GRCm39) |
Y507H |
probably benign |
Het |
Crlf3 |
T |
A |
11: 79,948,678 (GRCm39) |
R256W |
probably damaging |
Het |
Csdc2 |
T |
A |
15: 81,832,881 (GRCm39) |
F96I |
probably damaging |
Het |
Csk |
A |
C |
9: 57,535,958 (GRCm39) |
I264S |
probably damaging |
Het |
Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
Ddx43 |
G |
A |
9: 78,324,016 (GRCm39) |
G449D |
probably damaging |
Het |
Fbxw18 |
G |
T |
9: 109,529,235 (GRCm39) |
A106E |
possibly damaging |
Het |
Fchsd2 |
C |
T |
7: 100,840,959 (GRCm39) |
T156I |
probably benign |
Het |
Frs2 |
T |
A |
10: 116,917,011 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
C |
T |
3: 36,074,124 (GRCm39) |
E342K |
possibly damaging |
Het |
Grid2ip |
A |
T |
5: 143,374,666 (GRCm39) |
T922S |
probably damaging |
Het |
Grm1 |
A |
G |
10: 10,955,999 (GRCm39) |
L95P |
probably damaging |
Het |
Ift140 |
T |
C |
17: 25,252,893 (GRCm39) |
V348A |
possibly damaging |
Het |
Insr |
A |
G |
8: 3,224,869 (GRCm39) |
S200P |
possibly damaging |
Het |
Ints12 |
A |
T |
3: 132,804,319 (GRCm39) |
D102V |
probably damaging |
Het |
Kank1 |
A |
G |
19: 25,401,564 (GRCm39) |
D1057G |
probably damaging |
Het |
Kng1 |
T |
A |
16: 22,892,113 (GRCm39) |
D225E |
probably benign |
Het |
Lama1 |
A |
T |
17: 68,086,042 (GRCm39) |
|
probably null |
Het |
Lpin2 |
A |
G |
17: 71,553,929 (GRCm39) |
D882G |
probably benign |
Het |
Lrp1b |
A |
T |
2: 41,388,233 (GRCm39) |
F464Y |
probably benign |
Het |
Musk |
G |
A |
4: 58,373,583 (GRCm39) |
C836Y |
probably damaging |
Het |
Mx1 |
C |
T |
16: 97,255,406 (GRCm39) |
D216N |
probably damaging |
Het |
Ndrg3 |
A |
T |
2: 156,770,698 (GRCm39) |
N350K |
probably benign |
Het |
Oas3 |
G |
A |
5: 120,895,019 (GRCm39) |
P990L |
probably damaging |
Het |
Or4c111 |
T |
A |
2: 88,844,399 (GRCm39) |
N3I |
probably damaging |
Het |
Or4c12b |
T |
C |
2: 89,647,557 (GRCm39) |
S296P |
possibly damaging |
Het |
Or6c2 |
A |
G |
10: 129,362,357 (GRCm39) |
D87G |
probably damaging |
Het |
Otoa |
T |
C |
7: 120,721,092 (GRCm39) |
L369P |
probably damaging |
Het |
Plcg2 |
A |
G |
8: 118,231,088 (GRCm39) |
T57A |
probably damaging |
Het |
Prune2 |
A |
T |
19: 17,098,755 (GRCm39) |
T1420S |
possibly damaging |
Het |
Ptpdc1 |
A |
G |
13: 48,743,798 (GRCm39) |
F201S |
probably damaging |
Het |
Rnf214 |
A |
G |
9: 45,777,916 (GRCm39) |
V630A |
probably damaging |
Het |
Rxrb |
T |
A |
17: 34,254,718 (GRCm39) |
I181N |
probably damaging |
Het |
Scrib |
T |
C |
15: 75,939,581 (GRCm39) |
N69S |
probably damaging |
Het |
Scyl2 |
A |
G |
10: 89,476,681 (GRCm39) |
S815P |
probably benign |
Het |
Sgcd |
A |
G |
11: 47,246,028 (GRCm39) |
V58A |
probably damaging |
Het |
Slc13a3 |
C |
T |
2: 165,266,543 (GRCm39) |
V374I |
probably benign |
Het |
Slc22a4 |
A |
T |
11: 53,888,341 (GRCm39) |
I229N |
probably benign |
Het |
Slc44a5 |
A |
G |
3: 153,962,210 (GRCm39) |
Y381C |
probably damaging |
Het |
Sohlh1 |
A |
G |
2: 25,734,679 (GRCm39) |
S205P |
possibly damaging |
Het |
Spata20 |
T |
C |
11: 94,374,444 (GRCm39) |
M308V |
probably damaging |
Het |
Tac2 |
A |
G |
10: 127,561,971 (GRCm39) |
E25G |
possibly damaging |
Het |
Tars2 |
T |
C |
3: 95,654,964 (GRCm39) |
|
probably null |
Het |
Tefm |
G |
A |
11: 80,031,057 (GRCm39) |
R60C |
probably damaging |
Het |
Trem3 |
T |
C |
17: 48,565,483 (GRCm39) |
V179A |
probably benign |
Het |
Trim37 |
G |
T |
11: 87,092,266 (GRCm39) |
D692Y |
probably damaging |
Het |
Trpc4ap |
T |
C |
2: 155,508,133 (GRCm39) |
T173A |
probably benign |
Het |
Unc13c |
C |
T |
9: 73,600,486 (GRCm39) |
|
probably null |
Het |
Usp18 |
A |
G |
6: 121,238,456 (GRCm39) |
K201R |
probably benign |
Het |
Usp35 |
T |
A |
7: 96,962,284 (GRCm39) |
Y524F |
probably damaging |
Het |
Usp53 |
A |
G |
3: 122,752,734 (GRCm39) |
F208L |
probably damaging |
Het |
Vmn1r80 |
A |
T |
7: 11,927,654 (GRCm39) |
I255F |
probably damaging |
Het |
Vstm2a |
A |
T |
11: 16,211,483 (GRCm39) |
I98F |
probably benign |
Het |
Wdfy4 |
T |
A |
14: 32,855,317 (GRCm39) |
I766F |
possibly damaging |
Het |
Wdr17 |
T |
A |
8: 55,149,335 (GRCm39) |
Y55F |
probably damaging |
Het |
Xpot |
T |
C |
10: 121,449,551 (GRCm39) |
K172R |
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 |
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'- CTGCAGAAAGACCAGAGTGC -3'
(R):5'- AAAGATGGAGGGCCCTAACC -3'
Sequencing Primer
(F):5'- CAGAGTGCGTGTCAGTCACATG -3'
(R):5'- GGCCCTAACCCAGAATATAGAGATG -3'
|
Posted On |
2017-02-15 |