Incidental Mutation 'R6172:Stag3'
| ID |
488236 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
044315-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6172 (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 138298105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 699
(D699G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125523
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000048028]
[ENSMUST00000160849]
[ENSMUST00000162245]
|
| AlphaFold |
O70576 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000048028
AA Change: D699G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: D699G
| 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: ENSMUST00000160849
|
| SMART Domains |
Protein: ENSMUSP00000125376
Gene: ENSMUSG00000036928
| 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 |
noncoding transcript
Transcript: ENSMUST00000161615
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000162245
AA Change: D699G
PolyPhen 2
Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: D699G
| 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 |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.5%
|
| Validation Efficiency |
100% (44/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap42 |
A |
T |
9: 9,148,246 (GRCm39) |
C108S |
possibly damaging |
Het |
| Bbs2 |
T |
C |
8: 94,814,039 (GRCm39) |
E193G |
probably benign |
Het |
| Bpifb2 |
C |
A |
2: 153,732,332 (GRCm39) |
H310Q |
probably benign |
Het |
| Cand2 |
A |
G |
6: 115,768,271 (GRCm39) |
E472G |
probably benign |
Het |
| Cd81 |
A |
G |
7: 142,606,691 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
T |
4: 152,463,848 (GRCm39) |
H1476L |
probably damaging |
Het |
| Clpx |
C |
A |
9: 65,209,161 (GRCm39) |
S92* |
probably null |
Het |
| Cstf3 |
T |
C |
2: 104,481,987 (GRCm39) |
V276A |
probably damaging |
Het |
| Ehd4 |
G |
A |
2: 119,932,737 (GRCm39) |
Q230* |
probably null |
Het |
| Erich3 |
A |
G |
3: 154,469,978 (GRCm39) |
T4A |
possibly damaging |
Het |
| Erlin2 |
T |
G |
8: 27,526,123 (GRCm39) |
|
probably null |
Het |
| Exosc1 |
C |
A |
19: 41,912,442 (GRCm39) |
Q148H |
probably damaging |
Het |
| Fbxw27 |
A |
T |
9: 109,601,337 (GRCm39) |
V261E |
probably damaging |
Het |
| Flrt2 |
T |
A |
12: 95,746,305 (GRCm39) |
N214K |
probably damaging |
Het |
| Foxp1 |
G |
A |
6: 98,992,471 (GRCm39) |
Q41* |
probably null |
Het |
| Foxp1 |
C |
A |
6: 98,992,475 (GRCm39) |
|
probably null |
Het |
| Frk |
T |
C |
10: 34,467,961 (GRCm39) |
L325P |
probably damaging |
Het |
| Gm21698 |
T |
C |
5: 26,192,371 (GRCm39) |
I72V |
probably benign |
Het |
| Gm39115 |
A |
T |
7: 141,689,651 (GRCm39) |
C41S |
unknown |
Het |
| Hectd1 |
G |
A |
12: 51,816,065 (GRCm39) |
P1336S |
probably damaging |
Het |
| Ighv7-1 |
T |
C |
12: 113,860,183 (GRCm39) |
S70G |
probably damaging |
Het |
| Itga10 |
T |
C |
3: 96,554,753 (GRCm39) |
I78T |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,891,237 (GRCm39) |
H1218R |
probably benign |
Het |
| Marchf6 |
A |
T |
15: 31,483,013 (GRCm39) |
N463K |
possibly damaging |
Het |
| Muc5b |
A |
C |
7: 141,412,513 (GRCm39) |
T1820P |
unknown |
Het |
| Nfatc4 |
A |
G |
14: 56,066,990 (GRCm39) |
T510A |
possibly damaging |
Het |
| Nwd2 |
G |
T |
5: 63,964,249 (GRCm39) |
V1278F |
probably damaging |
Het |
| Or52n2c |
A |
C |
7: 104,574,503 (GRCm39) |
M156R |
probably benign |
Het |
| Or7g19 |
A |
G |
9: 18,856,042 (GRCm39) |
T33A |
probably benign |
Het |
| P2rx1 |
G |
A |
11: 72,900,856 (GRCm39) |
V209M |
probably damaging |
Het |
| Pkn1 |
T |
C |
8: 84,397,384 (GRCm39) |
K874R |
possibly damaging |
Het |
| Plec |
C |
T |
15: 76,056,576 (GRCm39) |
V4444I |
probably damaging |
Het |
| Ppp1r37 |
A |
T |
7: 19,266,329 (GRCm39) |
M479K |
possibly damaging |
Het |
| Prr11 |
A |
C |
11: 86,994,449 (GRCm39) |
F66V |
probably benign |
Het |
| Rbbp5 |
A |
G |
1: 132,424,554 (GRCm39) |
D268G |
possibly damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,597,778 (GRCm39) |
Y734* |
probably null |
Het |
| Rc3h2 |
GCC |
GCCC |
2: 37,304,745 (GRCm39) |
|
probably null |
Het |
| Rhou |
A |
G |
8: 124,387,903 (GRCm39) |
K212E |
probably benign |
Het |
| Rsph1 |
G |
A |
17: 31,492,392 (GRCm39) |
T58I |
probably benign |
Het |
| Serpina3m |
A |
G |
12: 104,355,486 (GRCm39) |
N51S |
probably damaging |
Het |
| Shisa6 |
A |
T |
11: 66,108,832 (GRCm39) |
D348E |
probably benign |
Het |
| Slc6a5 |
T |
A |
7: 49,598,081 (GRCm39) |
Y648* |
probably null |
Het |
| Terf2ip |
A |
T |
8: 112,744,649 (GRCm39) |
D322V |
probably damaging |
Het |
| Vmn1r125 |
A |
T |
7: 21,006,275 (GRCm39) |
M58L |
probably benign |
Het |
| Wdr49 |
T |
A |
3: 75,205,487 (GRCm39) |
D643V |
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 |
|
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'- AACAACTCCAGGAGGTGGTG -3'
(R):5'- ATTCCATCAACACTAGGAGAAAGGG -3'
Sequencing Primer
(F):5'- TGGTGAAGCATGTAGAGCCTG -3'
(R):5'- GCTGCTCACTTGTAAAAGGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation