Incidental Mutation 'R6807:Stag1'
| ID |
533605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Stag1
|
| Ensembl Gene |
ENSMUSG00000037286 |
| Gene Name |
STAG1 cohesin complex component |
| Synonyms |
SA-1, Scc3 |
| MMRRC Submission |
044920-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6807 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 100826903 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 957
(R957C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116205
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
| AlphaFold |
Q9D3E6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041418
AA Change: R957C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000040724
Gene: ENSMUSG00000037286
AA Change: R957C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
276 |
1.5e-50 |
PFAM |
|
SCOP:d1qbkb_
|
279 |
850 |
4e-5 |
SMART |
|
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000123302
|
| SMART Domains |
Protein: ENSMUSP00000117879
Gene: ENSMUSG00000037286
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
157 |
276 |
2.9e-51 |
PFAM |
|
low complexity region
|
303 |
315 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129269
AA Change: R957C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000116205
Gene: ENSMUSG00000037286
AA Change: R957C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
Pfam:STAG
|
160 |
274 |
3.8e-41 |
PFAM |
|
SCOP:d1qbkb_
|
279 |
850 |
3e-5 |
SMART |
|
low complexity region
|
1062 |
1081 |
N/A |
INTRINSIC |
|
low complexity region
|
1107 |
1120 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000115460
Gene: ENSMUSG00000037286
AA Change: R126C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000120974
Gene: ENSMUSG00000037286
AA Change: R567C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
|
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155108
|
| SMART Domains |
Protein: ENSMUSP00000118952
Gene: ENSMUSG00000037286
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7116 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.9%
|
| Validation Efficiency |
100% (72/72) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the SCC3 family and is expressed in the nucleus. It encodes a component of cohesin, a multisubunit protein complex that provides sister chromatid cohesion along the length of a chromosome from DNA replication through prophase and prometaphase, after which it is dissociated in preparation for segregation during anaphase. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mouse embryos homozygous for a null mutation show developmental delay and die before birth. Heterozygous animals have shorter lifespan and earlier onset of tumourigenesis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
G |
11: 84,282,356 (GRCm39) |
T2158A |
probably benign |
Het |
| Apeh |
G |
A |
9: 107,969,878 (GRCm39) |
H186Y |
probably damaging |
Het |
| Apol7a |
T |
C |
15: 77,277,520 (GRCm39) |
|
probably null |
Het |
| Bicdl1 |
C |
T |
5: 115,810,202 (GRCm39) |
|
probably null |
Het |
| Bop1 |
T |
A |
15: 76,339,183 (GRCm39) |
Q362L |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,949,930 (GRCm39) |
D1418G |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,214,650 (GRCm39) |
V1455A |
possibly damaging |
Het |
| Cecr2 |
T |
G |
6: 120,711,503 (GRCm39) |
|
probably null |
Het |
| Cer1 |
T |
C |
4: 82,801,052 (GRCm39) |
S204G |
probably benign |
Het |
| Cers3 |
G |
C |
7: 66,413,968 (GRCm39) |
W15C |
probably damaging |
Het |
| Csn1s2a |
A |
T |
5: 87,929,731 (GRCm39) |
H110L |
probably benign |
Het |
| Dnah10 |
T |
G |
5: 124,867,064 (GRCm39) |
|
probably null |
Het |
| Dync2h1 |
T |
C |
9: 7,041,718 (GRCm39) |
N3315S |
probably benign |
Het |
| Dynlrb2 |
T |
C |
8: 117,234,299 (GRCm39) |
M21T |
probably benign |
Het |
| Emilin1 |
T |
A |
5: 31,072,871 (GRCm39) |
F103I |
probably benign |
Het |
| Esrra |
T |
A |
19: 6,889,142 (GRCm39) |
M416L |
probably benign |
Het |
| Etaa1 |
C |
A |
11: 17,902,680 (GRCm39) |
V86L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,314,211 (GRCm39) |
S324P |
probably damaging |
Het |
| Fam90a1a |
T |
C |
8: 22,453,368 (GRCm39) |
V241A |
probably benign |
Het |
| Fat4 |
C |
A |
3: 39,036,589 (GRCm39) |
Q3414K |
probably benign |
Het |
| Gpr162 |
C |
T |
6: 124,838,164 (GRCm39) |
R162H |
probably damaging |
Het |
| Gpr21 |
T |
A |
2: 37,407,974 (GRCm39) |
Y173* |
probably null |
Het |
| Gprc6a |
G |
A |
10: 51,502,841 (GRCm39) |
Q341* |
probably null |
Het |
| Herc2 |
T |
A |
7: 55,814,670 (GRCm39) |
S2674R |
probably damaging |
Het |
| Hnrnpdl |
A |
T |
5: 100,186,995 (GRCm39) |
H9Q |
probably null |
Het |
| Hps1 |
A |
G |
19: 42,759,217 (GRCm39) |
V125A |
possibly damaging |
Het |
| Iba57 |
G |
T |
11: 59,049,440 (GRCm39) |
P243H |
probably damaging |
Het |
| Incenp |
G |
T |
19: 9,855,120 (GRCm39) |
A597E |
unknown |
Het |
| Kat6a |
T |
A |
8: 23,430,384 (GRCm39) |
M1913K |
unknown |
Het |
| Klb |
G |
A |
5: 65,536,877 (GRCm39) |
V736M |
probably damaging |
Het |
| Krt33a |
T |
A |
11: 99,903,209 (GRCm39) |
T278S |
possibly damaging |
Het |
| Krt73 |
T |
G |
15: 101,704,842 (GRCm39) |
E348A |
probably damaging |
Het |
| Lig3 |
T |
A |
11: 82,674,577 (GRCm39) |
D134E |
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,049,771 (GRCm39) |
T73A |
probably benign |
Het |
| Lrpprc |
A |
G |
17: 85,056,531 (GRCm39) |
S787P |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,268,208 (GRCm39) |
M6735T |
probably damaging |
Het |
| Mapkbp1 |
C |
A |
2: 119,851,640 (GRCm39) |
Q861K |
probably damaging |
Het |
| Mc4r |
T |
A |
18: 66,992,927 (GRCm39) |
N62I |
probably damaging |
Het |
| Metap1d |
G |
A |
2: 71,341,858 (GRCm39) |
V151I |
probably damaging |
Het |
| Nek2 |
T |
C |
1: 191,554,729 (GRCm39) |
V147A |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,108,530 (GRCm39) |
W324R |
probably damaging |
Het |
| Nol4l |
G |
T |
2: 153,325,746 (GRCm39) |
S113* |
probably null |
Het |
| Oc90 |
T |
A |
15: 65,761,463 (GRCm39) |
D185V |
probably damaging |
Het |
| Or2a52 |
T |
C |
6: 43,144,172 (GRCm39) |
F60S |
probably damaging |
Het |
| Or2v1 |
G |
A |
11: 49,025,805 (GRCm39) |
R262K |
probably damaging |
Het |
| Or4a71 |
G |
A |
2: 89,357,932 (GRCm39) |
T274M |
probably damaging |
Het |
| Or5m13 |
A |
T |
2: 85,748,382 (GRCm39) |
T38S |
possibly damaging |
Het |
| Or5p51 |
T |
A |
7: 107,444,797 (GRCm39) |
T48S |
possibly damaging |
Het |
| Or8g50 |
A |
T |
9: 39,648,914 (GRCm39) |
K268* |
probably null |
Het |
| Pcdha8 |
A |
G |
18: 37,127,401 (GRCm39) |
T628A |
probably damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,549,986 (GRCm39) |
|
probably null |
Het |
| Pdgfrb |
T |
C |
18: 61,211,721 (GRCm39) |
|
probably null |
Het |
| Pgm3 |
A |
T |
9: 86,438,555 (GRCm39) |
|
probably null |
Het |
| Pin1rt1 |
T |
A |
2: 104,545,063 (GRCm39) |
Y23F |
probably benign |
Het |
| Poli |
T |
A |
18: 70,663,222 (GRCm39) |
|
probably null |
Het |
| Pom121 |
C |
A |
5: 135,409,978 (GRCm39) |
|
probably benign |
Het |
| Ppp2r5c |
A |
G |
12: 110,535,456 (GRCm39) |
D407G |
possibly damaging |
Het |
| Pramel28 |
A |
G |
4: 143,691,581 (GRCm39) |
S381P |
probably damaging |
Het |
| Rgs12 |
A |
G |
5: 35,180,515 (GRCm39) |
D116G |
probably null |
Het |
| Serpina3b |
A |
T |
12: 104,099,251 (GRCm39) |
E255D |
probably benign |
Het |
| Sft2d1rt |
T |
C |
11: 45,942,859 (GRCm39) |
Q88R |
probably damaging |
Het |
| Slc46a1 |
A |
G |
11: 78,357,790 (GRCm39) |
H281R |
probably damaging |
Het |
| Spata6 |
T |
C |
4: 111,642,012 (GRCm39) |
I294T |
probably benign |
Het |
| Srgap1 |
T |
A |
10: 121,664,631 (GRCm39) |
|
probably null |
Het |
| Stk35 |
G |
A |
2: 129,643,573 (GRCm39) |
E186K |
probably damaging |
Het |
| Tenm4 |
G |
A |
7: 96,202,703 (GRCm39) |
R106H |
probably benign |
Het |
| Tenm4 |
G |
A |
7: 96,544,478 (GRCm39) |
V2165I |
probably damaging |
Het |
| Tmem53 |
T |
C |
4: 117,125,528 (GRCm39) |
S207P |
probably benign |
Het |
| Ugt2a3 |
A |
G |
5: 87,484,617 (GRCm39) |
F136L |
probably benign |
Het |
| Unc13d |
T |
C |
11: 115,957,577 (GRCm39) |
K795E |
probably damaging |
Het |
| Zbtb11 |
C |
A |
16: 55,810,865 (GRCm39) |
T341K |
probably benign |
Het |
|
| Other mutations in Stag1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00649:Stag1
|
APN |
9 |
100,658,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01010:Stag1
|
APN |
9 |
100,827,986 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01012:Stag1
|
APN |
9 |
100,737,912 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
IGL01025:Stag1
|
APN |
9 |
100,833,710 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL01307:Stag1
|
APN |
9 |
100,833,841 (GRCm39) |
intron |
probably benign |
|
|
IGL02149:Stag1
|
APN |
9 |
100,769,442 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL02608:Stag1
|
APN |
9 |
100,639,822 (GRCm39) |
missense |
probably null |
0.99 |
|
IGL03008:Stag1
|
APN |
9 |
100,658,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Stag1
|
APN |
9 |
100,727,129 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
eto_o
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4280001:Stag1
|
UTSW |
9 |
100,824,769 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
|
R0070:Stag1
|
UTSW |
9 |
100,838,461 (GRCm39) |
missense |
probably null |
1.00 |
|
R0349:Stag1
|
UTSW |
9 |
100,658,837 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0479:Stag1
|
UTSW |
9 |
100,810,144 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0531:Stag1
|
UTSW |
9 |
100,836,300 (GRCm39) |
makesense |
probably null |
|
|
R0962:Stag1
|
UTSW |
9 |
100,678,880 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0976:Stag1
|
UTSW |
9 |
100,812,069 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0976:Stag1
|
UTSW |
9 |
100,658,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1170:Stag1
|
UTSW |
9 |
100,770,506 (GRCm39) |
intron |
probably benign |
|
|
R1499:Stag1
|
UTSW |
9 |
100,769,426 (GRCm39) |
intron |
probably benign |
|
|
R1499:Stag1
|
UTSW |
9 |
100,737,885 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R1644:Stag1
|
UTSW |
9 |
100,762,953 (GRCm39) |
intron |
probably benign |
|
|
R1747:Stag1
|
UTSW |
9 |
100,770,353 (GRCm39) |
missense |
probably benign |
|
|
R1799:Stag1
|
UTSW |
9 |
100,835,515 (GRCm39) |
splice site |
probably null |
|
|
R1807:Stag1
|
UTSW |
9 |
100,790,719 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1978:Stag1
|
UTSW |
9 |
100,770,139 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2029:Stag1
|
UTSW |
9 |
100,668,740 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2161:Stag1
|
UTSW |
9 |
100,771,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2300:Stag1
|
UTSW |
9 |
100,594,553 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R2327:Stag1
|
UTSW |
9 |
100,668,666 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2426:Stag1
|
UTSW |
9 |
100,727,169 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2448:Stag1
|
UTSW |
9 |
100,770,462 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2504:Stag1
|
UTSW |
9 |
100,748,263 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3713:Stag1
|
UTSW |
9 |
100,771,671 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3835:Stag1
|
UTSW |
9 |
100,620,035 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3862:Stag1
|
UTSW |
9 |
100,826,838 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4398:Stag1
|
UTSW |
9 |
100,838,659 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R4568:Stag1
|
UTSW |
9 |
100,730,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4651:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4652:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4653:Stag1
|
UTSW |
9 |
100,678,769 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4675:Stag1
|
UTSW |
9 |
100,730,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4709:Stag1
|
UTSW |
9 |
100,620,092 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4924:Stag1
|
UTSW |
9 |
100,678,808 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R5018:Stag1
|
UTSW |
9 |
100,833,672 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5435:Stag1
|
UTSW |
9 |
100,835,603 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5460:Stag1
|
UTSW |
9 |
100,838,506 (GRCm39) |
splice site |
probably null |
|
|
R5805:Stag1
|
UTSW |
9 |
100,678,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6127:Stag1
|
UTSW |
9 |
100,833,750 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6313:Stag1
|
UTSW |
9 |
100,639,786 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Stag1
|
UTSW |
9 |
100,769,473 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7099:Stag1
|
UTSW |
9 |
100,826,879 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7167:Stag1
|
UTSW |
9 |
100,827,942 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7395:Stag1
|
UTSW |
9 |
100,678,781 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7504:Stag1
|
UTSW |
9 |
100,770,381 (GRCm39) |
missense |
probably benign |
0.09 |
|
R7663:Stag1
|
UTSW |
9 |
100,620,191 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7769:Stag1
|
UTSW |
9 |
100,826,880 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8245:Stag1
|
UTSW |
9 |
100,811,946 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8343:Stag1
|
UTSW |
9 |
100,639,819 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8473:Stag1
|
UTSW |
9 |
100,762,840 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8709:Stag1
|
UTSW |
9 |
100,772,975 (GRCm39) |
intron |
probably benign |
|
|
R8925:Stag1
|
UTSW |
9 |
100,587,298 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8927:Stag1
|
UTSW |
9 |
100,587,298 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R8951:Stag1
|
UTSW |
9 |
100,762,854 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9138:Stag1
|
UTSW |
9 |
100,829,335 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9233:Stag1
|
UTSW |
9 |
100,812,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9246:Stag1
|
UTSW |
9 |
100,770,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9419:Stag1
|
UTSW |
9 |
100,811,967 (GRCm39) |
missense |
probably benign |
|
|
R9442:Stag1
|
UTSW |
9 |
100,836,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9694:Stag1
|
UTSW |
9 |
100,810,151 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9740:Stag1
|
UTSW |
9 |
100,587,288 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGACATGGTATCTCAGTCCCTC -3'
(R):5'- ACAGGTGGTTTAAGAAAGCCTTTTC -3'
Sequencing Primer
(F):5'- GACATGGTATCTCAGTCCCTCTGTAC -3'
(R):5'- TCCAGCAAACCAGTTCTA -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation