Incidental Mutation 'R8417:Stag3'
ID |
652990 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag3
|
Ensembl Gene |
ENSMUSG00000036928 |
Gene Name |
STAG3 cohesin complex component |
Synonyms |
SA-2, stromalin 3 |
MMRRC Submission |
067771-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8417 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 138306850 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 1134
(T1134A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160849]
[ENSMUST00000162245]
|
AlphaFold |
O70576 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000048028
AA Change: T1134A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000040945 Gene: ENSMUSG00000036928 AA Change: T1134A
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 |
probably benign
Transcript: ENSMUST00000160849
AA Change: T115A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125376 Gene: ENSMUSG00000036928 AA Change: T115A
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 |
probably benign
Transcript: ENSMUST00000162245
AA Change: T1134A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000125523 Gene: ENSMUSG00000036928 AA Change: T1134A
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AB124611 |
T |
C |
9: 21,440,381 (GRCm39) |
|
probably null |
Het |
Adamtsl1 |
G |
A |
4: 86,074,926 (GRCm39) |
D98N |
possibly damaging |
Het |
Adgrb3 |
T |
C |
1: 25,527,134 (GRCm39) |
T601A |
probably benign |
Het |
Ankrd33 |
C |
A |
15: 101,017,330 (GRCm39) |
Q248K |
probably benign |
Het |
Bsn |
G |
A |
9: 107,988,651 (GRCm39) |
A2367V |
probably benign |
Het |
Casp12 |
G |
T |
9: 5,352,263 (GRCm39) |
C155F |
probably benign |
Het |
Ccn6 |
T |
A |
10: 39,027,207 (GRCm39) |
R342* |
probably null |
Het |
Clpp |
T |
C |
17: 57,297,661 (GRCm39) |
V81A |
probably benign |
Het |
Cyp3a59 |
A |
T |
5: 146,027,495 (GRCm39) |
I89F |
possibly damaging |
Het |
Fam227b |
C |
A |
2: 125,962,982 (GRCm39) |
W178L |
probably damaging |
Het |
Fcna |
C |
A |
2: 25,514,863 (GRCm39) |
R332L |
probably damaging |
Het |
Gdf3 |
T |
G |
6: 122,583,566 (GRCm39) |
H267P |
probably damaging |
Het |
Gm5592 |
A |
G |
7: 40,937,975 (GRCm39) |
D419G |
probably benign |
Het |
Gm6882 |
A |
G |
7: 21,161,220 (GRCm39) |
V216A |
probably damaging |
Het |
Gsdma3 |
A |
G |
11: 98,520,603 (GRCm39) |
N78S |
probably benign |
Het |
Hsd3b9 |
G |
A |
3: 98,363,731 (GRCm39) |
T38I |
probably benign |
Het |
Hydin |
T |
C |
8: 111,296,024 (GRCm39) |
I3579T |
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,311,590 (GRCm39) |
I942V |
probably damaging |
Het |
Lamc1 |
A |
G |
1: 153,106,515 (GRCm39) |
Y1266H |
probably damaging |
Het |
Lgi3 |
T |
C |
14: 70,772,246 (GRCm39) |
Y264H |
probably benign |
Het |
Lmod2 |
G |
A |
6: 24,603,384 (GRCm39) |
E120K |
possibly damaging |
Het |
Mbl2 |
G |
T |
19: 30,216,884 (GRCm39) |
C232F |
probably damaging |
Het |
Morc1 |
T |
C |
16: 48,281,103 (GRCm39) |
V214A |
probably damaging |
Het |
Nlrp4b |
T |
A |
7: 10,459,880 (GRCm39) |
C827* |
probably null |
Het |
Or12k5 |
T |
A |
2: 36,894,658 (GRCm39) |
T323S |
probably benign |
Het |
Or5t7 |
A |
G |
2: 86,507,149 (GRCm39) |
F176S |
probably damaging |
Het |
Pbrm1 |
T |
A |
14: 30,749,419 (GRCm39) |
H72Q |
possibly damaging |
Het |
Plekhm2 |
T |
C |
4: 141,355,136 (GRCm39) |
I944V |
probably benign |
Het |
Prdm8 |
A |
T |
5: 98,332,390 (GRCm39) |
D97V |
probably damaging |
Het |
Preb |
G |
A |
5: 31,117,461 (GRCm39) |
|
probably benign |
Het |
Prkcd |
T |
C |
14: 30,331,208 (GRCm39) |
K56E |
probably benign |
Het |
Slit3 |
A |
T |
11: 35,501,438 (GRCm39) |
I391F |
probably damaging |
Het |
Spata19 |
A |
G |
9: 27,309,266 (GRCm39) |
S91G |
probably benign |
Het |
Tgfbr2 |
A |
T |
9: 115,939,197 (GRCm39) |
M235K |
probably benign |
Het |
Tmtc2 |
A |
T |
10: 105,249,097 (GRCm39) |
I212N |
probably damaging |
Het |
Tnfrsf26 |
C |
T |
7: 143,168,639 (GRCm39) |
R133K |
probably benign |
Het |
Trim43c |
C |
A |
9: 88,725,191 (GRCm39) |
Q238K |
probably benign |
Het |
Vcan |
T |
C |
13: 89,836,862 (GRCm39) |
D2894G |
probably benign |
Het |
Zeb2 |
C |
T |
2: 44,913,008 (GRCm39) |
S105N |
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 |
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 |
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'- GGGACAGGTTTATAAAAGTAGCTCTG -3'
(R):5'- TCAACCTCTGGGTGCCTAAG -3'
Sequencing Primer
(F):5'- AAGCCTTCAGCTGAACAG -3'
(R):5'- AACCTCTGGGTGCCTAAGAGTTG -3'
|
Posted On |
2020-10-20 |