Incidental Mutation 'R1530:Stag3'
| ID |
166544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag3
|
| Ensembl Gene |
ENSMUSG00000036928 |
| Gene Name |
STAG3 cohesin complex component |
| Synonyms |
SA-2, stromalin 3 |
| MMRRC Submission |
039569-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1530 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
138278502-138310655 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 138295674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 399
(T399I)
|
| 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: T399I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000040945
Gene: ENSMUSG00000036928
AA Change: T399I
| 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: T399I
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000125523
Gene: ENSMUSG00000036928
AA Change: T399I
| 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: 99.2%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.6%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl6b |
T |
C |
5: 137,567,640 (GRCm39) |
C425R |
probably damaging |
Het |
| Adam15 |
A |
G |
3: 89,257,137 (GRCm39) |
S20P |
probably damaging |
Het |
| Adgra3 |
G |
A |
5: 50,118,479 (GRCm39) |
T1023I |
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,671,285 (GRCm39) |
V46E |
probably damaging |
Het |
| Ankrd13c |
T |
A |
3: 157,697,358 (GRCm39) |
M321K |
probably damaging |
Het |
| Atad2b |
C |
T |
12: 4,992,018 (GRCm39) |
R206* |
probably null |
Het |
| Atp10b |
T |
A |
11: 43,088,351 (GRCm39) |
F319Y |
probably benign |
Het |
| AW554918 |
A |
G |
18: 25,533,161 (GRCm39) |
R272G |
probably damaging |
Het |
| Bpi |
T |
A |
2: 158,103,065 (GRCm39) |
I70N |
probably damaging |
Het |
| Brca1 |
T |
C |
11: 101,415,521 (GRCm39) |
D871G |
probably damaging |
Het |
| Capn3 |
G |
A |
2: 120,312,689 (GRCm39) |
A160T |
probably damaging |
Het |
| Cenpe |
T |
C |
3: 134,952,663 (GRCm39) |
L1451P |
possibly damaging |
Het |
| Chmp7 |
A |
G |
14: 69,969,937 (GRCm39) |
M1T |
probably null |
Het |
| Csrnp1 |
G |
C |
9: 119,802,612 (GRCm39) |
Q200E |
possibly damaging |
Het |
| Dscam |
G |
A |
16: 96,621,074 (GRCm39) |
P545S |
probably damaging |
Het |
| Erap1 |
A |
G |
13: 74,794,662 (GRCm39) |
E107G |
probably benign |
Het |
| Errfi1 |
A |
G |
4: 150,949,843 (GRCm39) |
I49V |
probably benign |
Het |
| Fam171b |
T |
C |
2: 83,710,533 (GRCm39) |
L735S |
probably damaging |
Het |
| Fancm |
T |
A |
12: 65,139,264 (GRCm39) |
|
probably null |
Het |
| Fbp2 |
G |
C |
13: 62,984,973 (GRCm39) |
P316R |
probably damaging |
Het |
| Fcer2a |
C |
A |
8: 3,732,976 (GRCm39) |
G255V |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,374,737 (GRCm39) |
I704N |
probably damaging |
Het |
| Fzd2 |
T |
C |
11: 102,496,134 (GRCm39) |
S193P |
probably benign |
Het |
| Gak |
A |
G |
5: 108,772,059 (GRCm39) |
V86A |
probably damaging |
Het |
| Gas2l3 |
A |
G |
10: 89,269,631 (GRCm39) |
I7T |
probably benign |
Het |
| Gbp11 |
T |
C |
5: 105,475,355 (GRCm39) |
H331R |
probably damaging |
Het |
| Gpr19 |
C |
T |
6: 134,846,961 (GRCm39) |
V241M |
probably damaging |
Het |
| Grk6 |
G |
A |
13: 55,606,612 (GRCm39) |
A437T |
probably damaging |
Het |
| Hip1 |
T |
C |
5: 135,473,634 (GRCm39) |
D253G |
probably damaging |
Het |
| Ifna9 |
G |
C |
4: 88,510,409 (GRCm39) |
Q72E |
possibly damaging |
Het |
| Il1r1 |
A |
G |
1: 40,351,521 (GRCm39) |
T384A |
probably benign |
Het |
| Ip6k1 |
C |
A |
9: 107,922,761 (GRCm39) |
C221* |
probably null |
Het |
| Kcna1 |
C |
A |
6: 126,619,494 (GRCm39) |
E275D |
probably benign |
Het |
| Kcnt2 |
C |
T |
1: 140,411,970 (GRCm39) |
Q468* |
probably null |
Het |
| Kin |
T |
C |
2: 10,097,150 (GRCm39) |
V333A |
probably damaging |
Het |
| Leprot |
G |
T |
4: 101,513,484 (GRCm39) |
V91L |
probably benign |
Het |
| Mettl21c |
A |
G |
1: 44,056,344 (GRCm39) |
|
probably null |
Het |
| Myom2 |
T |
C |
8: 15,172,384 (GRCm39) |
F1161S |
probably damaging |
Het |
| Ndor1 |
A |
G |
2: 25,138,921 (GRCm39) |
L321P |
probably benign |
Het |
| Nipal2 |
A |
T |
15: 34,625,168 (GRCm39) |
*72K |
probably null |
Het |
| Nol3 |
T |
C |
8: 106,005,858 (GRCm39) |
V84A |
probably benign |
Het |
| Or2y16 |
C |
T |
11: 49,334,732 (GRCm39) |
S18L |
probably benign |
Het |
| Or4c101 |
A |
T |
2: 88,389,827 (GRCm39) |
I5F |
probably benign |
Het |
| Or8b42 |
T |
C |
9: 38,341,620 (GRCm39) |
I14T |
probably damaging |
Het |
| Pcare |
A |
G |
17: 72,056,473 (GRCm39) |
V1068A |
probably benign |
Het |
| Pdgfra |
T |
A |
5: 75,349,671 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
T |
C |
9: 98,936,026 (GRCm39) |
D802G |
probably damaging |
Het |
| Plac8l1 |
A |
T |
18: 42,311,996 (GRCm39) |
V141E |
probably damaging |
Het |
| Plxnb2 |
A |
G |
15: 89,051,395 (GRCm39) |
S275P |
probably benign |
Het |
| Prl3b1 |
G |
A |
13: 27,427,848 (GRCm39) |
A53T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,552,009 (GRCm39) |
I959K |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,324,628 (GRCm39) |
K1400R |
probably damaging |
Het |
| Sel1l |
A |
G |
12: 91,793,458 (GRCm39) |
S263P |
probably damaging |
Het |
| Setd5 |
G |
A |
6: 113,086,874 (GRCm39) |
V34I |
probably damaging |
Het |
| Slc34a1 |
A |
G |
13: 24,003,052 (GRCm39) |
D234G |
probably damaging |
Het |
| Spink5 |
T |
A |
18: 44,148,738 (GRCm39) |
S934T |
probably damaging |
Het |
| St18 |
A |
C |
1: 6,915,793 (GRCm39) |
|
probably null |
Het |
| St3gal4 |
T |
C |
9: 34,963,592 (GRCm39) |
I239V |
probably benign |
Het |
| Syt11 |
T |
C |
3: 88,669,674 (GRCm39) |
K6E |
probably damaging |
Het |
| Taf15 |
T |
C |
11: 83,378,122 (GRCm39) |
Y121H |
possibly damaging |
Het |
| Tdh |
T |
C |
14: 63,733,504 (GRCm39) |
Y113C |
probably damaging |
Het |
| Tgfbr1 |
T |
A |
4: 47,410,688 (GRCm39) |
W406R |
probably damaging |
Het |
| Tgm6 |
A |
G |
2: 129,993,202 (GRCm39) |
I563V |
possibly damaging |
Het |
| Tmem131 |
A |
G |
1: 36,866,090 (GRCm39) |
|
probably null |
Het |
| Tmub2 |
T |
C |
11: 102,178,312 (GRCm39) |
S72P |
probably benign |
Het |
| Trappc13 |
G |
A |
13: 104,286,651 (GRCm39) |
T202I |
probably damaging |
Het |
| Trim9 |
T |
C |
12: 70,319,202 (GRCm39) |
E449G |
probably damaging |
Het |
| Trip11 |
C |
A |
12: 101,879,026 (GRCm39) |
G21V |
unknown |
Het |
| Ttll12 |
G |
A |
15: 83,472,856 (GRCm39) |
R127C |
probably damaging |
Het |
| Vmn2r125 |
A |
T |
4: 156,703,447 (GRCm39) |
Y275F |
probably damaging |
Het |
| Xrcc5 |
A |
G |
1: 72,369,103 (GRCm39) |
D319G |
probably damaging |
Het |
| Zc3h14 |
T |
G |
12: 98,751,262 (GRCm39) |
C159W |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zfhx3 |
C |
T |
8: 109,675,121 (GRCm39) |
P2057L |
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 |
|
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 |
|
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'- CGGTATAGAAATCACCCATGCCCAG -3'
(R):5'- GGAAACCATCCGGTCCTATGCAAAG -3'
Sequencing Primer
(F):5'- CATGCCCAGAATGTAGAACAGTG -3'
(R):5'- CGGTCCTATGCAAAGAACATTATC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation