Incidental Mutation 'IGL02149:Stag1'
ID |
281908 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Stag1
|
Ensembl Gene |
ENSMUSG00000037286 |
Gene Name |
STAG1 cohesin complex component |
Synonyms |
SA-1, Scc3 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02149
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
100479762-100840597 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100769442 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 519
(D519G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000040724
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041418]
[ENSMUST00000123302]
[ENSMUST00000129269]
[ENSMUST00000155108]
|
AlphaFold |
Q9D3E6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000041418
AA Change: D519G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000040724 Gene: ENSMUSG00000037286 AA Change: D519G
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 benign
Transcript: ENSMUST00000129269
AA Change: D519G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000116205 Gene: ENSMUSG00000037286 AA Change: D519G
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 |
probably benign
Transcript: ENSMUST00000143955
|
SMART Domains |
Protein: ENSMUSP00000115460 Gene: ENSMUSG00000037286
Domain | Start | End | E-Value | Type |
low complexity region
|
232 |
251 |
N/A |
INTRINSIC |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000146934
AA Change: D129G
|
SMART Domains |
Protein: ENSMUSP00000120974 Gene: ENSMUSG00000037286 AA Change: D129G
Domain | Start | End | E-Value | Type |
low complexity region
|
673 |
692 |
N/A |
INTRINSIC |
low complexity region
|
718 |
731 |
N/A |
INTRINSIC |
|
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 |
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam10 |
A |
T |
9: 70,610,713 (GRCm39) |
H67L |
probably damaging |
Het |
Adgrb1 |
C |
T |
15: 74,412,326 (GRCm39) |
T435I |
probably damaging |
Het |
Adgrd1 |
T |
A |
5: 129,256,325 (GRCm39) |
F652Y |
probably damaging |
Het |
Adgrl4 |
T |
A |
3: 151,205,991 (GRCm39) |
F250Y |
possibly damaging |
Het |
Aebp2 |
C |
T |
6: 140,588,010 (GRCm39) |
A360V |
probably benign |
Het |
AW551984 |
A |
C |
9: 39,504,220 (GRCm39) |
M582R |
probably benign |
Het |
B430306N03Rik |
T |
C |
17: 48,624,020 (GRCm39) |
V107A |
probably benign |
Het |
Cage1 |
T |
C |
13: 38,206,505 (GRCm39) |
N447D |
probably damaging |
Het |
Col17a1 |
T |
C |
19: 47,657,071 (GRCm39) |
D524G |
probably benign |
Het |
Dpp6 |
A |
T |
5: 27,743,022 (GRCm39) |
I218F |
probably benign |
Het |
Ep300 |
T |
G |
15: 81,512,621 (GRCm39) |
|
probably benign |
Het |
Ephb2 |
C |
T |
4: 136,421,225 (GRCm39) |
C375Y |
probably damaging |
Het |
Fastk |
A |
G |
5: 24,649,051 (GRCm39) |
V112A |
probably damaging |
Het |
Fbxo11 |
T |
A |
17: 88,301,187 (GRCm39) |
R775S |
possibly damaging |
Het |
Fbxw20 |
A |
G |
9: 109,062,886 (GRCm39) |
|
probably null |
Het |
Hamp2 |
G |
T |
7: 30,622,122 (GRCm39) |
A50E |
probably damaging |
Het |
Il22b |
C |
A |
10: 118,130,902 (GRCm39) |
|
probably benign |
Het |
Ints1 |
G |
A |
5: 139,737,715 (GRCm39) |
R2139C |
probably damaging |
Het |
Itgae |
T |
A |
11: 72,994,720 (GRCm39) |
V24E |
probably benign |
Het |
Jakmip3 |
G |
A |
7: 138,609,075 (GRCm39) |
V60M |
possibly damaging |
Het |
Kcnk10 |
A |
C |
12: 98,485,099 (GRCm39) |
|
probably benign |
Het |
Klra1 |
A |
T |
6: 130,352,293 (GRCm39) |
C150S |
probably damaging |
Het |
Lhx9 |
A |
T |
1: 138,759,172 (GRCm39) |
V376E |
probably damaging |
Het |
Mdm1 |
T |
A |
10: 117,983,970 (GRCm39) |
F199I |
probably damaging |
Het |
Nipal3 |
G |
T |
4: 135,194,163 (GRCm39) |
T290K |
possibly damaging |
Het |
Obsl1 |
C |
T |
1: 75,480,464 (GRCm39) |
E387K |
probably damaging |
Het |
Or8b43 |
A |
G |
9: 38,360,693 (GRCm39) |
H175R |
probably damaging |
Het |
Oxct1 |
A |
G |
15: 4,120,711 (GRCm39) |
Y265C |
probably damaging |
Het |
Pccb |
G |
A |
9: 100,867,243 (GRCm39) |
H411Y |
probably damaging |
Het |
Pkp1 |
A |
G |
1: 135,814,485 (GRCm39) |
S279P |
probably benign |
Het |
Prdm14 |
C |
A |
1: 13,195,663 (GRCm39) |
G133C |
probably benign |
Het |
Prkaa2 |
A |
T |
4: 104,897,285 (GRCm39) |
N309K |
probably benign |
Het |
Shc2 |
T |
C |
10: 79,458,102 (GRCm39) |
D527G |
probably damaging |
Het |
Shkbp1 |
C |
T |
7: 27,042,064 (GRCm39) |
|
probably benign |
Het |
Skil |
T |
C |
3: 31,151,856 (GRCm39) |
V126A |
possibly damaging |
Het |
Slc25a36 |
A |
T |
9: 96,975,122 (GRCm39) |
|
probably benign |
Het |
Slc2a13 |
T |
C |
15: 91,227,924 (GRCm39) |
T423A |
probably benign |
Het |
Spty2d1 |
A |
G |
7: 46,657,892 (GRCm39) |
|
probably benign |
Het |
Tmprss2 |
G |
T |
16: 97,400,479 (GRCm39) |
|
probably benign |
Het |
Trim66 |
G |
T |
7: 109,060,109 (GRCm39) |
T759K |
possibly damaging |
Het |
Trpc4ap |
C |
A |
2: 155,481,467 (GRCm39) |
A530S |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,642,099 (GRCm39) |
D11625E |
probably damaging |
Het |
Ube4b |
T |
C |
4: 149,483,141 (GRCm39) |
I42M |
possibly damaging |
Het |
Ubxn10 |
A |
G |
4: 138,448,584 (GRCm39) |
S31P |
probably benign |
Het |
Ubxn7 |
A |
G |
16: 32,194,088 (GRCm39) |
Y220C |
probably damaging |
Het |
Vmn1r234 |
A |
G |
17: 21,449,269 (GRCm39) |
Y61C |
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 |
|
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 |
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 |
|
Posted On |
2015-04-16 |