Incidental Mutation 'R6694:Sae1'
| ID |
528493 |
| 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 |
044812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.965)
|
| Stock # |
R6694 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
16054159-16121731 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 16102461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Glutamic Acid
at position 171
(A171E)
|
| 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: A171E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000092409
Gene: ENSMUSG00000052833
AA Change: A171E
| 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: A171E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000211741
AA Change: A171E
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.7%
|
| Validation Efficiency |
95% (41/43) |
| 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 |
|---|
| Aoc1l2 |
G |
A |
6: 48,907,480 (GRCm39) |
S160N |
probably benign |
Het |
| Arap3 |
A |
C |
18: 38,124,590 (GRCm39) |
|
probably null |
Het |
| Arhgap10 |
A |
G |
8: 78,137,692 (GRCm39) |
F300L |
probably benign |
Het |
| Ccdc116 |
T |
C |
16: 16,960,655 (GRCm39) |
E54G |
probably benign |
Het |
| Cd53 |
T |
A |
3: 106,674,702 (GRCm39) |
I122F |
probably benign |
Het |
| Ctnnd1 |
T |
C |
2: 84,454,849 (GRCm39) |
|
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,490,104 (GRCm39) |
D1691G |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,150,617 (GRCm39) |
|
probably null |
Het |
| Exoc1 |
T |
A |
5: 76,697,399 (GRCm39) |
M392K |
probably damaging |
Het |
| Exoc3l |
G |
C |
8: 106,017,122 (GRCm39) |
R622G |
probably benign |
Het |
| Grid2 |
C |
G |
6: 63,908,031 (GRCm39) |
R224G |
possibly damaging |
Het |
| Kif20a |
A |
G |
18: 34,758,579 (GRCm39) |
E16G |
probably damaging |
Het |
| Kit |
T |
C |
5: 75,801,417 (GRCm39) |
V568A |
possibly damaging |
Het |
| Lhx4 |
T |
C |
1: 155,580,456 (GRCm39) |
S257G |
probably benign |
Het |
| Med18 |
C |
T |
4: 132,187,293 (GRCm39) |
V114I |
probably benign |
Het |
| Mrps30 |
C |
T |
13: 118,523,497 (GRCm39) |
V92M |
possibly damaging |
Het |
| Mtrr |
C |
T |
13: 68,712,452 (GRCm39) |
V645I |
probably benign |
Het |
| Nuak2 |
T |
G |
1: 132,260,048 (GRCm39) |
S609A |
probably damaging |
Het |
| Or2y1g |
A |
T |
11: 49,171,379 (GRCm39) |
I135F |
probably benign |
Het |
| Plk4 |
T |
C |
3: 40,756,263 (GRCm39) |
V58A |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,835,535 (GRCm39) |
F145L |
probably null |
Het |
| Rab11fip2 |
T |
C |
19: 59,925,707 (GRCm39) |
K170R |
probably damaging |
Het |
| Rapgef3 |
A |
G |
15: 97,657,865 (GRCm39) |
V246A |
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,290,555 (GRCm39) |
S316P |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Homo |
| Rsf1 |
GCGGCGGC |
GCGGCGGCGACGGCGGC |
7: 97,229,135 (GRCm39) |
|
probably benign |
Het |
| Semp2l2b |
T |
C |
10: 21,943,620 (GRCm39) |
E120G |
probably damaging |
Het |
| Setd5 |
T |
A |
6: 113,120,669 (GRCm39) |
N959K |
probably benign |
Het |
| Siae |
T |
A |
9: 37,528,119 (GRCm39) |
Y31N |
probably damaging |
Het |
| Sit1 |
C |
T |
4: 43,483,311 (GRCm39) |
G51D |
probably damaging |
Het |
| Slc5a11 |
A |
G |
7: 122,867,012 (GRCm39) |
I436V |
possibly damaging |
Het |
| Tcfl5 |
A |
G |
2: 180,264,447 (GRCm39) |
S470P |
probably damaging |
Het |
| Timd2 |
A |
T |
11: 46,561,779 (GRCm39) |
C288* |
probably null |
Het |
| Timeless |
T |
G |
10: 128,075,868 (GRCm39) |
|
probably null |
Het |
| Ubxn8 |
G |
T |
8: 34,111,572 (GRCm39) |
Q274K |
possibly damaging |
Het |
| Usp29 |
A |
G |
7: 6,965,276 (GRCm39) |
E373G |
probably benign |
Het |
| Zap70 |
A |
G |
1: 36,821,598 (GRCm39) |
Y597C |
probably damaging |
Het |
| Zfp523 |
T |
G |
17: 28,419,446 (GRCm39) |
Y195D |
probably damaging |
Het |
| Zfp74 |
G |
A |
7: 29,634,559 (GRCm39) |
A383V |
probably damaging |
Het |
| Zfp93 |
A |
T |
7: 23,975,338 (GRCm39) |
Q441L |
probably damaging |
Het |
| Zfp976 |
A |
T |
7: 42,263,610 (GRCm39) |
Y76N |
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 |
|
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 |
|
|
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'- TTCTGAACCCACAAGCTGAGC -3'
(R):5'- GGCAGTGATTCACAGTTTGC -3'
Sequencing Primer
(F):5'- GGTCTACAGAGTTACAGTATAGCC -3'
(R):5'- AGTGATTCACAGTTTGCAGCTC -3'
|
| Posted On |
2018-07-24 |
Incidental Mutation