Incidental Mutation 'R4924:Stag1'
ID |
378874 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Stag1
|
Ensembl Gene |
ENSMUSG00000037286 |
Gene Name |
STAG1 cohesin complex component |
Synonyms |
SA-1, Scc3 |
MMRRC Submission |
042526-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4924 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 100678808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 243
(H243L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116322
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000138405]
[ENSMUST00000146312]
[ENSMUST00000155108]
|
AlphaFold |
Q9D3E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
AA Change: H243L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: H243L
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
AA Change: H243L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000117879 Gene: ENSMUSG00000037286 AA Change: H243L
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 benign
Transcript: ENSMUST00000129269
AA Change: H243L
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: H243L
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 |
possibly damaging
Transcript: ENSMUST00000138405
AA Change: H243L
PolyPhen 2
Score 0.665 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000116322 Gene: ENSMUSG00000037286 AA Change: H243L
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-51 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146312
AA Change: H185L
|
SMART Domains |
Protein: ENSMUSP00000116597 Gene: ENSMUSG00000037286 AA Change: H185L
Domain | Start | End | E-Value | Type |
low complexity region
|
32 |
44 |
N/A |
INTRINSIC |
low complexity region
|
59 |
72 |
N/A |
INTRINSIC |
Pfam:STAG
|
99 |
196 |
4.2e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149771
|
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 |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.6%
|
Validation Efficiency |
|
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: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aatk |
G |
A |
11: 119,902,351 (GRCm39) |
H625Y |
probably damaging |
Het |
Adamts4 |
C |
T |
1: 171,086,643 (GRCm39) |
R812W |
probably damaging |
Het |
Ajuba |
A |
C |
14: 54,809,056 (GRCm39) |
|
probably null |
Het |
Aox1 |
T |
A |
1: 58,344,503 (GRCm39) |
V532D |
probably damaging |
Het |
Arpc1b |
G |
A |
5: 145,063,625 (GRCm39) |
S295N |
probably benign |
Het |
Baiap2 |
A |
G |
11: 119,887,850 (GRCm39) |
S335G |
probably damaging |
Het |
Brap |
T |
G |
5: 121,803,318 (GRCm39) |
N155K |
probably damaging |
Het |
Btn1a1 |
A |
G |
13: 23,648,396 (GRCm39) |
|
probably benign |
Het |
Ccl12 |
G |
A |
11: 81,993,475 (GRCm39) |
V38I |
probably benign |
Het |
Cemip |
T |
C |
7: 83,602,146 (GRCm39) |
Y881C |
probably damaging |
Het |
Cep128 |
T |
C |
12: 90,989,174 (GRCm39) |
|
silent |
Het |
Chd5 |
A |
C |
4: 152,450,886 (GRCm39) |
D670A |
possibly damaging |
Het |
Cmip |
T |
C |
8: 117,983,994 (GRCm39) |
Y52H |
probably benign |
Het |
Dmtn |
A |
G |
14: 70,855,399 (GRCm39) |
I30T |
probably benign |
Het |
Dscaml1 |
T |
A |
9: 45,656,487 (GRCm39) |
M1609K |
probably damaging |
Het |
Edar |
C |
A |
10: 58,465,197 (GRCm39) |
E55D |
probably damaging |
Het |
Ehmt1 |
A |
T |
2: 24,729,734 (GRCm39) |
I601N |
probably damaging |
Het |
Fam120a |
A |
T |
13: 49,055,572 (GRCm39) |
N705K |
probably benign |
Het |
Gm21718 |
G |
T |
14: 51,550,292 (GRCm39) |
|
noncoding transcript |
Het |
Gnaz |
A |
G |
10: 74,827,545 (GRCm39) |
D99G |
probably benign |
Het |
Helz |
G |
A |
11: 107,493,165 (GRCm39) |
G196D |
probably damaging |
Het |
Hif1a |
T |
C |
12: 73,986,331 (GRCm39) |
S341P |
probably damaging |
Het |
Hivep1 |
G |
T |
13: 42,311,792 (GRCm39) |
S1344I |
probably benign |
Het |
Hspa1l |
T |
A |
17: 35,196,832 (GRCm39) |
Y290* |
probably null |
Het |
Ift81 |
A |
G |
5: 122,732,679 (GRCm39) |
L285S |
possibly damaging |
Het |
Inpp4b |
T |
A |
8: 82,849,253 (GRCm39) |
N891K |
probably damaging |
Het |
Irx6 |
C |
T |
8: 93,404,981 (GRCm39) |
T283M |
probably benign |
Het |
Kdm5b |
A |
G |
1: 134,559,089 (GRCm39) |
K1538E |
probably benign |
Het |
Kif13a |
A |
G |
13: 47,083,075 (GRCm39) |
V8A |
probably damaging |
Het |
Krtap15-1 |
T |
A |
16: 88,626,036 (GRCm39) |
N34K |
probably damaging |
Het |
Lama2 |
T |
G |
10: 27,245,137 (GRCm39) |
I215L |
probably damaging |
Het |
Ldlrad3 |
C |
T |
2: 101,900,328 (GRCm39) |
R58H |
possibly damaging |
Het |
Lvrn |
C |
T |
18: 47,027,792 (GRCm39) |
P869L |
probably damaging |
Het |
Myo1d |
A |
G |
11: 80,565,504 (GRCm39) |
F411S |
probably damaging |
Het |
Myo5b |
T |
A |
18: 74,828,455 (GRCm39) |
H702Q |
probably benign |
Het |
Nat8f4 |
G |
T |
6: 85,878,401 (GRCm39) |
Q41K |
probably benign |
Het |
Nckap5 |
C |
A |
1: 125,954,765 (GRCm39) |
E596* |
probably null |
Het |
Nek10 |
T |
A |
14: 14,846,594 (GRCm38) |
|
probably null |
Het |
Notch3 |
T |
C |
17: 32,363,705 (GRCm39) |
Y1145C |
probably damaging |
Het |
Nr4a2 |
A |
T |
2: 57,002,035 (GRCm39) |
H76Q |
probably benign |
Het |
Nup98 |
T |
C |
7: 101,784,185 (GRCm39) |
Q1049R |
probably damaging |
Het |
Or4k48 |
A |
T |
2: 111,476,121 (GRCm39) |
S74T |
possibly damaging |
Het |
Or5k1b |
T |
A |
16: 58,580,982 (GRCm39) |
R186* |
probably null |
Het |
Or8k33 |
A |
T |
2: 86,383,853 (GRCm39) |
F205Y |
probably damaging |
Het |
Pepd |
T |
C |
7: 34,720,409 (GRCm39) |
Y231H |
probably benign |
Het |
Plagl1 |
G |
T |
10: 13,003,301 (GRCm39) |
A190S |
possibly damaging |
Het |
Plat |
T |
A |
8: 23,268,269 (GRCm39) |
I345N |
probably damaging |
Het |
Pnmt |
A |
G |
11: 98,278,286 (GRCm39) |
E120G |
probably damaging |
Het |
Prkrip1 |
C |
A |
5: 136,227,797 (GRCm39) |
|
probably null |
Het |
Pygm |
G |
A |
19: 6,443,754 (GRCm39) |
A572T |
probably damaging |
Het |
Rbm4b |
T |
C |
19: 4,807,400 (GRCm39) |
F39L |
probably damaging |
Het |
Rpe65 |
A |
G |
3: 159,328,268 (GRCm39) |
H388R |
probably benign |
Het |
Scn4a |
G |
T |
11: 106,210,914 (GRCm39) |
A1701E |
possibly damaging |
Het |
Sdk2 |
C |
A |
11: 113,748,584 (GRCm39) |
W616L |
probably damaging |
Het |
Serpina3m |
T |
A |
12: 104,357,729 (GRCm39) |
S218T |
probably benign |
Het |
Siglece |
C |
T |
7: 43,309,297 (GRCm39) |
R87H |
probably damaging |
Het |
Sim1 |
C |
A |
10: 50,785,998 (GRCm39) |
L284M |
probably damaging |
Het |
Smok3c |
G |
T |
5: 138,063,844 (GRCm39) |
E444* |
probably null |
Het |
Snx4 |
T |
C |
16: 33,115,100 (GRCm39) |
V427A |
probably benign |
Het |
Srp68 |
A |
T |
11: 116,151,684 (GRCm39) |
V304E |
probably damaging |
Het |
Stx6 |
T |
C |
1: 155,049,737 (GRCm39) |
V14A |
probably damaging |
Het |
Sv2b |
T |
A |
7: 74,786,169 (GRCm39) |
Y417F |
probably benign |
Het |
Tas2r103 |
A |
G |
6: 133,013,161 (GRCm39) |
Y302H |
probably benign |
Het |
Thop1 |
T |
C |
10: 80,916,028 (GRCm39) |
S404P |
probably benign |
Het |
Trp53bp1 |
G |
T |
2: 121,051,701 (GRCm39) |
C988* |
probably null |
Het |
Tsbp1 |
C |
T |
17: 34,678,951 (GRCm39) |
P221L |
probably damaging |
Het |
Ube3c |
A |
G |
5: 29,836,269 (GRCm39) |
E630G |
possibly damaging |
Het |
Usf3 |
T |
C |
16: 44,037,718 (GRCm39) |
S733P |
probably benign |
Het |
Vmn1r195 |
A |
G |
13: 22,463,189 (GRCm39) |
T220A |
probably benign |
Het |
Vmn1r201 |
A |
T |
13: 22,658,882 (GRCm39) |
H32L |
probably benign |
Het |
Wnt2 |
A |
G |
6: 18,023,239 (GRCm39) |
C137R |
probably damaging |
Het |
Ythdc2 |
T |
C |
18: 44,980,871 (GRCm39) |
S489P |
probably damaging |
Het |
Zfp248 |
A |
G |
6: 118,406,033 (GRCm39) |
C418R |
probably damaging |
Het |
Zfp946 |
T |
G |
17: 22,674,502 (GRCm39) |
F419V |
probably damaging |
Het |
Zfp994 |
C |
T |
17: 22,419,738 (GRCm39) |
E404K |
probably damaging |
Het |
Zfpm1 |
T |
C |
8: 123,061,347 (GRCm39) |
V304A |
possibly damaging |
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 |
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 |
R6807:Stag1
|
UTSW |
9 |
100,826,903 (GRCm39) |
missense |
probably damaging |
1.00 |
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'- GCAACTGAGATTAGTCTATTCCTGTC -3'
(R):5'- GACCCGTATGAATTTTCTATTGTCC -3'
Sequencing Primer
(F):5'- AGATTAGTCTATTCCTGTCAGTTACC -3'
(R):5'- AACTTTCTGTGCAGCCAAGG -3'
|
Posted On |
2016-04-15 |