Incidental Mutation 'R8848:Stag3'
| ID |
674816 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
068671-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8848 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 138288528 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 185
(E185G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000040945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160729]
[ENSMUST00000161691]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000048028
AA Change: E185G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: E185G
| 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 damaging
Transcript: ENSMUST00000160729
AA Change: E185G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000124170
Gene: ENSMUSG00000036928
AA Change: E185G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
low complexity region
|
75 |
90 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161691
AA Change: E154G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000125290
Gene: ENSMUSG00000036928
AA Change: E154G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
44 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000162245
AA Change: E185G
PolyPhen 2
Score 0.966 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: E185G
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110059G10Rik |
T |
C |
9: 122,778,106 (GRCm39) |
D46G |
probably benign |
Het |
| Abcc8 |
A |
T |
7: 45,766,769 (GRCm39) |
W1004R |
possibly damaging |
Het |
| Acbd3 |
T |
A |
1: 180,562,084 (GRCm39) |
|
probably null |
Het |
| Adh1 |
G |
T |
3: 137,986,262 (GRCm39) |
C83F |
probably benign |
Het |
| Arhgef18 |
T |
C |
8: 3,477,481 (GRCm39) |
V20A |
probably benign |
Het |
| Bmal1 |
T |
C |
7: 112,905,327 (GRCm39) |
I506T |
possibly damaging |
Het |
| Brf2 |
T |
C |
8: 27,616,140 (GRCm39) |
I82V |
probably benign |
Het |
| C7 |
A |
G |
15: 5,088,911 (GRCm39) |
V10A |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,283 (GRCm39) |
V651M |
possibly damaging |
Het |
| Cacna2d2 |
T |
C |
9: 107,391,855 (GRCm39) |
I458T |
possibly damaging |
Het |
| Cadps2 |
C |
A |
6: 23,344,256 (GRCm39) |
W897L |
probably damaging |
Het |
| Cdhr1 |
T |
A |
14: 36,802,531 (GRCm39) |
N644I |
probably benign |
Het |
| Cox7c |
A |
T |
13: 86,193,900 (GRCm39) |
I55K |
possibly damaging |
Het |
| Cox8c |
T |
A |
12: 102,865,577 (GRCm39) |
|
probably benign |
Het |
| Cyp2c40 |
G |
A |
19: 39,801,244 (GRCm39) |
R4C |
unknown |
Het |
| Ehd3 |
A |
T |
17: 74,136,911 (GRCm39) |
|
probably null |
Het |
| Eif2b4 |
A |
T |
5: 31,348,210 (GRCm39) |
C227S |
probably damaging |
Het |
| Erlec1 |
T |
C |
11: 30,898,411 (GRCm39) |
Y213C |
probably damaging |
Het |
| F11 |
G |
T |
8: 45,695,281 (GRCm39) |
Y562* |
probably null |
Het |
| Fam186a |
A |
G |
15: 99,838,034 (GRCm39) |
S2737P |
possibly damaging |
Het |
| Fat3 |
T |
C |
9: 15,878,398 (GRCm39) |
E3361G |
probably damaging |
Het |
| Fbxl7 |
T |
A |
15: 26,552,902 (GRCm39) |
M122L |
probably benign |
Het |
| Fras1 |
T |
A |
5: 96,929,207 (GRCm39) |
N3870K |
probably damaging |
Het |
| Gm12185 |
T |
A |
11: 48,806,280 (GRCm39) |
T304S |
possibly damaging |
Het |
| Grin3b |
A |
T |
10: 79,809,667 (GRCm39) |
D391V |
probably benign |
Het |
| Hao2 |
T |
A |
3: 98,784,528 (GRCm39) |
D279V |
probably damaging |
Het |
| Il4i1 |
C |
A |
7: 44,489,175 (GRCm39) |
D313E |
probably damaging |
Het |
| Kcnk7 |
T |
A |
19: 5,756,743 (GRCm39) |
L244Q |
probably damaging |
Het |
| Lingo4 |
A |
T |
3: 94,310,840 (GRCm39) |
M593L |
probably benign |
Het |
| Lix1 |
G |
A |
17: 17,663,955 (GRCm39) |
A98T |
probably damaging |
Het |
| Lpo |
T |
A |
11: 87,708,603 (GRCm39) |
I132L |
probably benign |
Het |
| Mymx |
A |
T |
17: 45,912,935 (GRCm39) |
|
probably null |
Het |
| Nms |
T |
C |
1: 38,978,391 (GRCm39) |
S9P |
probably benign |
Het |
| Nom1 |
A |
G |
5: 29,645,137 (GRCm39) |
D535G |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,902 (GRCm39) |
I90F |
probably damaging |
Het |
| Or5p81 |
T |
A |
7: 108,266,929 (GRCm39) |
I102N |
probably benign |
Het |
| Or8k25 |
T |
C |
2: 86,243,821 (GRCm39) |
T192A |
probably benign |
Het |
| Pgbd1 |
A |
G |
13: 21,607,052 (GRCm39) |
C381R |
probably damaging |
Het |
| Pkp1 |
T |
C |
1: 135,807,652 (GRCm39) |
S539G |
probably damaging |
Het |
| Plcd3 |
C |
A |
11: 102,971,446 (GRCm39) |
R66L |
probably benign |
Het |
| Polr3a |
A |
T |
14: 24,500,834 (GRCm39) |
L1318Q |
probably damaging |
Het |
| Ppara |
T |
A |
15: 85,673,188 (GRCm39) |
F126L |
possibly damaging |
Het |
| Rab11a |
T |
C |
9: 64,624,264 (GRCm39) |
Y173C |
probably damaging |
Het |
| Rev3l |
T |
A |
10: 39,722,705 (GRCm39) |
M2566K |
probably damaging |
Het |
| Rwdd1 |
A |
G |
10: 33,884,987 (GRCm39) |
|
probably null |
Het |
| Scn7a |
G |
A |
2: 66,530,393 (GRCm39) |
R651* |
probably null |
Het |
| Slc15a4 |
T |
G |
5: 127,679,021 (GRCm39) |
I440L |
probably benign |
Het |
| Slc28a2 |
A |
G |
2: 122,290,902 (GRCm39) |
T623A |
probably benign |
Het |
| Snd1 |
T |
A |
6: 28,874,962 (GRCm39) |
S628T |
possibly damaging |
Het |
| Speg |
T |
C |
1: 75,404,082 (GRCm39) |
|
probably null |
Het |
| Spta1 |
G |
A |
1: 174,025,310 (GRCm39) |
R725K |
probably benign |
Het |
| Svop |
G |
T |
5: 114,183,687 (GRCm39) |
T195K |
|
Het |
| Tbc1d5 |
A |
T |
17: 51,226,082 (GRCm39) |
F254I |
probably damaging |
Het |
| Ulk3 |
T |
C |
9: 57,496,890 (GRCm39) |
L8P |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,433,263 (GRCm39) |
I1973V |
probably benign |
Het |
| Upb1 |
T |
A |
10: 75,264,178 (GRCm39) |
|
probably null |
Het |
| Usp53 |
C |
T |
3: 122,742,825 (GRCm39) |
G704S |
probably benign |
Het |
| Usp53 |
T |
C |
3: 122,743,235 (GRCm39) |
D567G |
probably benign |
Het |
| Vmn1r72 |
T |
A |
7: 11,404,269 (GRCm39) |
I60F |
probably damaging |
Het |
| Vmn2r34 |
C |
T |
7: 7,675,307 (GRCm39) |
V694I |
probably benign |
Het |
| Vmn2r60 |
T |
C |
7: 41,786,169 (GRCm39) |
F324S |
probably damaging |
Het |
| Vps37d |
A |
G |
5: 135,102,519 (GRCm39) |
S238P |
probably damaging |
Het |
| Zfp407 |
T |
A |
18: 84,578,819 (GRCm39) |
I765F |
probably damaging |
Het |
| Zfp455 |
A |
G |
13: 67,356,089 (GRCm39) |
I387M |
possibly 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 |
|
R8417:Stag3
|
UTSW |
5 |
138,306,850 (GRCm39) |
missense |
probably benign |
|
|
R8734:Stag3
|
UTSW |
5 |
138,310,050 (GRCm39) |
missense |
probably benign |
0.36 |
|
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'- TGTGTGATTGCTCCTTCTAAGC -3'
(R):5'- GCCTGTCAGCTAATTTCTGTAAG -3'
Sequencing Primer
(F):5'- GTGATTGCTCCTTCTAAGCTCTTTC -3'
(R):5'- TGGGGCACACCTTTAATCCCAG -3'
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| Posted On |
2021-07-15 |
Incidental Mutation