Incidental Mutation 'IGL02881:Sae1'
| ID |
362798 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sae1
|
| Ensembl Gene |
ENSMUSG00000052833 |
| Gene Name |
SUMO1 activating enzyme subunit 1 |
| Synonyms |
HSPC140, D7Ertd177e, Uble1a, 2610044L12Rik, AOS1, 2400010M20Rik, SUMO-1 activating enzyme subunit 1 |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.968)
|
| Stock # |
IGL02881
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
16320234-16387806 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 16359118 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 221
(K221N)
|
| 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: K221N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: K221N
| 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: K221N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211741
AA Change: K221N
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700029H14Rik |
C |
A |
8: 13,555,999 (GRCm38) |
|
probably benign |
Het |
| Aatf |
A |
G |
11: 84,471,289 (GRCm38) |
|
probably benign |
Het |
| Asap3 |
A |
T |
4: 136,239,237 (GRCm38) |
H542L |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,308,716 (GRCm38) |
L389H |
probably damaging |
Het |
| Dnah17 |
C |
T |
11: 118,042,118 (GRCm38) |
E3605K |
probably damaging |
Het |
| Fry |
C |
T |
5: 150,359,051 (GRCm38) |
T347M |
probably damaging |
Het |
| Glul |
C |
A |
1: 153,907,116 (GRCm38) |
T191K |
probably benign |
Het |
| Gm6614 |
T |
C |
6: 141,972,243 (GRCm38) |
R636G |
probably benign |
Het |
| Grsf1 |
A |
T |
5: 88,673,830 (GRCm38) |
L125Q |
probably damaging |
Het |
| Hfm1 |
A |
G |
5: 106,874,252 (GRCm38) |
I976T |
probably damaging |
Het |
| Itgb5 |
A |
G |
16: 33,919,905 (GRCm38) |
T462A |
probably benign |
Het |
| Lmna |
G |
T |
3: 88,502,926 (GRCm38) |
R60S |
possibly damaging |
Het |
| Mrpl10 |
T |
A |
11: 97,047,073 (GRCm38) |
V89D |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,857,712 (GRCm38) |
T1465I |
unknown |
Het |
| Myh15 |
A |
C |
16: 49,117,265 (GRCm38) |
D743A |
possibly damaging |
Het |
| Noxo1 |
C |
A |
17: 24,699,435 (GRCm38) |
L190I |
probably damaging |
Het |
| Noxo1 |
T |
A |
17: 24,699,436 (GRCm38) |
L190Q |
probably damaging |
Het |
| Nrn1 |
C |
A |
13: 36,730,106 (GRCm38) |
|
probably null |
Het |
| Olfr1025-ps1 |
A |
G |
2: 85,918,116 (GRCm38) |
S64G |
probably benign |
Het |
| Olfr1098 |
A |
G |
2: 86,922,713 (GRCm38) |
V273A |
possibly damaging |
Het |
| Olfr1226 |
T |
A |
2: 89,193,641 (GRCm38) |
Y131F |
probably damaging |
Het |
| Olfr170 |
A |
T |
16: 19,606,300 (GRCm38) |
Y123N |
probably damaging |
Het |
| Pfkfb4 |
A |
G |
9: 109,007,296 (GRCm38) |
T131A |
probably null |
Het |
| Phf20l1 |
T |
C |
15: 66,594,980 (GRCm38) |
|
probably null |
Het |
| Pnliprp2 |
A |
G |
19: 58,771,446 (GRCm38) |
D363G |
probably benign |
Het |
| Prpf6 |
C |
T |
2: 181,632,071 (GRCm38) |
T336I |
probably benign |
Het |
| Rcc1 |
C |
T |
4: 132,337,756 (GRCm38) |
R139H |
probably benign |
Het |
| Slc45a1 |
T |
C |
4: 150,638,530 (GRCm38) |
K299R |
probably benign |
Het |
| Smad2 |
C |
A |
18: 76,299,780 (GRCm38) |
|
probably null |
Het |
| Tmem117 |
T |
C |
15: 94,879,425 (GRCm38) |
F152S |
probably damaging |
Het |
| Tmem232 |
C |
T |
17: 65,450,370 (GRCm38) |
C276Y |
probably damaging |
Het |
| Tor1b |
A |
T |
2: 30,953,853 (GRCm38) |
K47* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,909,803 (GRCm38) |
V3464A |
probably benign |
Het |
| Ube3b |
A |
G |
5: 114,412,884 (GRCm38) |
T870A |
possibly damaging |
Het |
| Zscan25 |
T |
G |
5: 145,290,486 (GRCm38) |
L320R |
probably benign |
Het |
|
| Other mutations in Sae1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02206:Sae1
|
APN |
7 |
16,330,656 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL02672:Sae1
|
APN |
7 |
16,370,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0255:Sae1
|
UTSW |
7 |
16,370,322 (GRCm38) |
nonsense |
probably null |
|
|
R0667:Sae1
|
UTSW |
7 |
16,368,532 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1374:Sae1
|
UTSW |
7 |
16,378,408 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R1585:Sae1
|
UTSW |
7 |
16,330,612 (GRCm38) |
critical splice donor site |
probably null |
|
|
R1960:Sae1
|
UTSW |
7 |
16,368,565 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R2278:Sae1
|
UTSW |
7 |
16,370,366 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5513:Sae1
|
UTSW |
7 |
16,366,856 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5677:Sae1
|
UTSW |
7 |
16,370,462 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R6694:Sae1
|
UTSW |
7 |
16,368,536 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6975:Sae1
|
UTSW |
7 |
16,336,787 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R7307:Sae1
|
UTSW |
7 |
16,368,544 (GRCm38) |
nonsense |
probably null |
|
|
R7914:Sae1
|
UTSW |
7 |
16,387,723 (GRCm38) |
missense |
unknown |
|
|
R8437:Sae1
|
UTSW |
7 |
16,370,354 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9076:Sae1
|
UTSW |
7 |
16,336,743 (GRCm38) |
missense |
probably benign |
|
|
Z1177:Sae1
|
UTSW |
7 |
16,327,871 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-12-18 |
Incidental Mutation