Incidental Mutation 'IGL02672:Sae1'
| ID |
302950 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sae1
|
| Ensembl Gene |
ENSMUSG00000052833 |
| Gene Name |
SUMO1 activating enzyme subunit 1 |
| Synonyms |
2400010M20Rik, SUMO-1 activating enzyme subunit 1, HSPC140, AOS1, Uble1a, 2610044L12Rik, D7Ertd177e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
IGL02672
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16054159-16121731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16104273 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 112
(V112A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000147771
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000094815]
[ENSMUST00000210999]
[ENSMUST00000211741]
|
| AlphaFold |
Q9R1T2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000094815
AA Change: V112A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: V112A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
23 |
344 |
4.3e-51 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209749
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210999
AA Change: V112A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211741
AA Change: V112A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Posttranslational modification of proteins by the addition of the small protein SUMO (see SUMO1; MIM 601912), or sumoylation, regulates protein structure and intracellular localization. SAE1 and UBA2 (MIM 613295) form a heterodimer that functions as a SUMO-activating enzyme for the sumoylation of proteins (Okuma et al., 1999 [PubMed 9920803]).[supplied by OMIM, Mar 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Alpi |
A |
G |
1: 87,028,994 (GRCm39) |
L60P |
probably damaging |
Het |
| Arpc1a |
A |
C |
5: 145,041,697 (GRCm39) |
I327L |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Dcaf7 |
T |
C |
11: 105,945,684 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
T |
G |
11: 65,818,427 (GRCm39) |
I3304L |
probably benign |
Het |
| Dpp10 |
T |
A |
1: 123,304,376 (GRCm39) |
H508L |
probably benign |
Het |
| Dync1i1 |
A |
G |
6: 5,767,034 (GRCm39) |
D86G |
probably benign |
Het |
| Enpp7 |
T |
C |
11: 118,883,166 (GRCm39) |
|
probably null |
Het |
| Fbxw9 |
C |
A |
8: 85,792,682 (GRCm39) |
|
probably null |
Het |
| Foxred2 |
A |
G |
15: 77,829,777 (GRCm39) |
|
probably null |
Het |
| Gas2l2 |
C |
T |
11: 83,315,957 (GRCm39) |
R254H |
probably damaging |
Het |
| Gatad2b |
C |
T |
3: 90,249,198 (GRCm39) |
L79F |
possibly damaging |
Het |
| Igf1r |
A |
T |
7: 67,839,781 (GRCm39) |
D696V |
probably benign |
Het |
| Kcnk5 |
A |
G |
14: 20,196,580 (GRCm39) |
I96T |
probably damaging |
Het |
| Lrrc8c |
C |
T |
5: 105,755,224 (GRCm39) |
T333M |
possibly damaging |
Het |
| Mcm10 |
T |
C |
2: 5,006,092 (GRCm39) |
T417A |
probably benign |
Het |
| Mesp2 |
T |
C |
7: 79,461,145 (GRCm39) |
S157P |
probably benign |
Het |
| Naca |
A |
G |
10: 127,876,152 (GRCm39) |
|
probably benign |
Het |
| Or5t17 |
A |
T |
2: 86,832,417 (GRCm39) |
M35L |
probably benign |
Het |
| Osgepl1 |
A |
G |
1: 53,359,270 (GRCm39) |
T260A |
probably benign |
Het |
| Otop1 |
T |
C |
5: 38,435,170 (GRCm39) |
|
probably null |
Het |
| Pdk1 |
T |
C |
2: 71,726,096 (GRCm39) |
S335P |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,668,987 (GRCm39) |
N338S |
probably benign |
Het |
| Pogz |
G |
A |
3: 94,763,410 (GRCm39) |
V61I |
probably benign |
Het |
| Ppp4r1 |
A |
G |
17: 66,147,942 (GRCm39) |
Y928C |
probably damaging |
Het |
| Rab17 |
T |
C |
1: 90,886,940 (GRCm39) |
E160G |
probably damaging |
Het |
| Rasgrp3 |
T |
A |
17: 75,803,412 (GRCm39) |
F70Y |
probably benign |
Het |
| Rere |
T |
A |
4: 150,594,483 (GRCm39) |
N364K |
unknown |
Het |
| Ryr1 |
A |
T |
7: 28,703,944 (GRCm39) |
|
probably benign |
Het |
| Serpinb6d |
C |
T |
13: 33,855,372 (GRCm39) |
H349Y |
probably benign |
Het |
| Slc12a1 |
T |
C |
2: 125,012,596 (GRCm39) |
V286A |
probably damaging |
Het |
| Smad3 |
A |
T |
9: 63,575,009 (GRCm39) |
|
probably null |
Het |
| Sox8 |
T |
A |
17: 25,787,963 (GRCm39) |
D162V |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,087,239 (GRCm39) |
F1067L |
probably damaging |
Het |
| Tmprss3 |
T |
C |
17: 31,409,981 (GRCm39) |
Y211C |
probably damaging |
Het |
| Top2b |
T |
C |
14: 16,409,166 (GRCm38) |
|
probably benign |
Het |
| Tpp1 |
A |
T |
7: 105,396,168 (GRCm39) |
H510Q |
probably benign |
Het |
| Ugcg |
T |
A |
4: 59,218,587 (GRCm39) |
|
probably benign |
Het |
| Vmn2r96 |
T |
A |
17: 18,818,376 (GRCm39) |
I651N |
probably benign |
Het |
| Wdr25 |
A |
T |
12: 108,864,007 (GRCm39) |
K51* |
probably null |
Het |
|
| Other mutations in Sae1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Sae1
|
APN |
7 |
16,064,581 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02881:Sae1
|
APN |
7 |
16,093,043 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Sae1
|
UTSW |
7 |
16,104,247 (GRCm39) |
nonsense |
probably null |
|
|
R0667:Sae1
|
UTSW |
7 |
16,102,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1374:Sae1
|
UTSW |
7 |
16,112,333 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1585:Sae1
|
UTSW |
7 |
16,064,537 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1960:Sae1
|
UTSW |
7 |
16,102,490 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2278:Sae1
|
UTSW |
7 |
16,104,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5513:Sae1
|
UTSW |
7 |
16,100,781 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5677:Sae1
|
UTSW |
7 |
16,104,387 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6694:Sae1
|
UTSW |
7 |
16,102,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6975:Sae1
|
UTSW |
7 |
16,070,712 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7307:Sae1
|
UTSW |
7 |
16,102,469 (GRCm39) |
nonsense |
probably null |
|
|
R7914:Sae1
|
UTSW |
7 |
16,121,648 (GRCm39) |
missense |
unknown |
|
|
R8437:Sae1
|
UTSW |
7 |
16,104,279 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9076:Sae1
|
UTSW |
7 |
16,070,668 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Sae1
|
UTSW |
7 |
16,061,796 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation