Incidental Mutation 'R1374:Sae1'
| ID |
157440 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.964)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16054159-16121731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 16112333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 60
(I60T)
|
| 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: I60T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: I60T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
21 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
23 |
344 |
4.3e-51 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000210999
AA Change: I60T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211741
AA Change: I60T
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| Meta Mutation Damage Score |
0.8275 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nfxl1 |
G |
A |
5: 72,681,488 (GRCm39) |
T681I |
probably benign |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably damaging |
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 |
|
IGL02672:Sae1
|
APN |
7 |
16,104,273 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTTCCCATTCCCGAATCATTCCAGG -3'
(R):5'- AGGGCATACACAACGTGCTCAG -3'
Sequencing Primer
(F):5'- CAGGGGTTGAAGACTATATATTCACG -3'
(R):5'- CAACGTGCTCAGTAAAGAAGTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation