Incidental Mutation 'R8276:Uba6'
| ID |
656458 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
067699-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8276 (G1)
|
| Quality Score |
112.008 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to A
at 86290509 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
26 |
N/A |
INTRINSIC |
|
Pfam:ThiF
|
44 |
431 |
8.9e-29 |
PFAM |
|
Pfam:E1_FCCH
|
224 |
293 |
1.7e-28 |
PFAM |
|
Pfam:E1_4HB
|
294 |
362 |
9.8e-21 |
PFAM |
|
internal_repeat_1
|
443 |
588 |
1.25e-6 |
PROSPERO |
|
Pfam:UBA_e1_thiolCys
|
631 |
884 |
3.7e-80 |
PFAM |
|
UBA_e1_C
|
921 |
1043 |
1.04e-49 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113373
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ThiF
|
29 |
167 |
1.8e-16 |
PFAM |
|
Pfam:ThiF
|
428 |
573 |
8.5e-34 |
PFAM |
|
Pfam:UBA_e1_thiolCys
|
575 |
619 |
2.3e-22 |
PFAM |
|
Pfam:UBACT
|
817 |
885 |
2.9e-28 |
PFAM |
|
UBA_e1_C
|
890 |
1012 |
1.04e-49 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
98% (44/45) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Modification of proteins with ubiquitin (UBB; MIM 191339) or ubiquitin-like proteins controls many signaling networks and requires a ubiquitin-activating enzyme (E1), a ubiquitin conjugating enzyme (E2), and a ubiquitin protein ligase (E3). UBE1L2 is an E1 enzyme that initiates the activation and conjugation of ubiquitin-like proteins (Jin et al., 2007 [PubMed 17597759]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit early embryonic lethality. Mice homozygous for a conditional allele activated in neurons exhibit decreased weight, postnatal and premature lethality and altered social behavior and neuronal development. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
A |
14: 32,385,885 (GRCm39) |
R27W |
probably damaging |
Het |
| Acbd5 |
A |
G |
2: 22,959,563 (GRCm39) |
D39G |
probably benign |
Het |
| Amdhd2 |
C |
G |
17: 24,382,574 (GRCm39) |
R22P |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,814,531 (GRCm39) |
I325M |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,461,556 (GRCm39) |
I664M |
probably benign |
Het |
| Dnajc10 |
T |
C |
2: 80,179,614 (GRCm39) |
M716T |
probably benign |
Het |
| Dock10 |
T |
A |
1: 80,505,998 (GRCm39) |
T1743S |
probably benign |
Het |
| Dop1a |
T |
C |
9: 86,399,092 (GRCm39) |
S947P |
probably benign |
Het |
| Ep300 |
C |
G |
15: 81,534,229 (GRCm39) |
N2095K |
possibly damaging |
Het |
| Evi2a |
T |
A |
11: 79,418,316 (GRCm39) |
N98I |
probably damaging |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Far2 |
G |
T |
6: 148,075,399 (GRCm39) |
V420L |
probably benign |
Het |
| Gng5 |
A |
G |
3: 146,206,258 (GRCm39) |
|
probably benign |
Het |
| Heatr5b |
G |
A |
17: 79,098,968 (GRCm39) |
R1311* |
probably null |
Het |
| Hhipl2 |
A |
T |
1: 183,217,328 (GRCm39) |
K478M |
possibly damaging |
Het |
| Hs3st1 |
A |
T |
5: 39,772,146 (GRCm39) |
Y166N |
probably damaging |
Het |
| Jcad |
T |
A |
18: 4,674,318 (GRCm39) |
S693R |
probably damaging |
Het |
| Kcnmb3 |
A |
G |
3: 32,536,572 (GRCm39) |
L52P |
probably damaging |
Het |
| Mib1 |
T |
C |
18: 10,751,880 (GRCm39) |
I254T |
possibly damaging |
Het |
| Myo18b |
T |
C |
5: 112,943,273 (GRCm39) |
K1644R |
possibly damaging |
Het |
| Nherf2 |
G |
T |
17: 24,861,234 (GRCm39) |
Y175* |
probably null |
Het |
| Nlrp2 |
G |
A |
7: 5,320,494 (GRCm39) |
T881M |
probably benign |
Het |
| Or11h23 |
T |
A |
14: 50,948,287 (GRCm39) |
S167T |
probably benign |
Het |
| Or52h9 |
A |
T |
7: 104,202,522 (GRCm39) |
Y132F |
probably damaging |
Het |
| Pkd1l3 |
A |
C |
8: 110,397,353 (GRCm39) |
*2152C |
probably null |
Het |
| Polr2a |
G |
A |
11: 69,638,882 (GRCm39) |
R51C |
probably damaging |
Het |
| Ptpru |
C |
T |
4: 131,506,484 (GRCm39) |
G1026D |
probably damaging |
Het |
| Rbm46 |
A |
G |
3: 82,771,895 (GRCm39) |
V240A |
probably damaging |
Het |
| Rrm1 |
G |
A |
7: 102,110,059 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
T |
C |
2: 112,470,962 (GRCm39) |
D4637G |
probably damaging |
Het |
| Selenos |
G |
A |
7: 65,729,552 (GRCm39) |
|
probably benign |
Het |
| Serpina1e |
G |
T |
12: 103,913,428 (GRCm39) |
T364K |
probably damaging |
Het |
| Shroom3 |
A |
T |
5: 93,088,339 (GRCm39) |
Q363L |
probably damaging |
Het |
| Slc9b1 |
A |
C |
3: 135,077,658 (GRCm39) |
E139D |
possibly damaging |
Het |
| Tjp1 |
A |
T |
7: 64,993,544 (GRCm39) |
|
probably benign |
Het |
| Tmcc3 |
A |
T |
10: 94,418,170 (GRCm39) |
T344S |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,918 (GRCm39) |
S807T |
probably benign |
Het |
| Trav7-6 |
A |
T |
14: 53,954,695 (GRCm39) |
H95L |
probably benign |
Het |
| Trmu |
T |
A |
15: 85,766,932 (GRCm39) |
V47D |
possibly damaging |
Het |
| Unc79 |
A |
G |
12: 102,968,122 (GRCm39) |
D116G |
possibly damaging |
Het |
| Vmn2r93 |
G |
A |
17: 18,525,649 (GRCm39) |
|
probably null |
Het |
| Zfp541 |
A |
T |
7: 15,813,009 (GRCm39) |
H554L |
possibly damaging |
Het |
| Zfp618 |
A |
G |
4: 63,051,193 (GRCm39) |
H658R |
probably damaging |
Het |
| Zmym1 |
A |
T |
4: 126,948,051 (GRCm39) |
Y107N |
probably damaging |
Het |
|
| Other mutations in Uba6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00555:Uba6
|
APN |
5 |
86,267,266 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
IGL01294:Uba6
|
APN |
5 |
86,297,907 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL01625:Uba6
|
APN |
5 |
86,268,388 (GRCm39) |
nonsense |
probably null |
|
|
IGL01807:Uba6
|
APN |
5 |
86,270,270 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01919:Uba6
|
APN |
5 |
86,267,245 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02131:Uba6
|
APN |
5 |
86,297,936 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03107:Uba6
|
APN |
5 |
86,275,633 (GRCm39) |
splice site |
probably benign |
|
|
R0314:Uba6
|
UTSW |
5 |
86,265,946 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0350:Uba6
|
UTSW |
5 |
86,292,237 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R0511:Uba6
|
UTSW |
5 |
86,260,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0964:Uba6
|
UTSW |
5 |
86,267,260 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R1086:Uba6
|
UTSW |
5 |
86,275,578 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1440:Uba6
|
UTSW |
5 |
86,288,282 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1564:Uba6
|
UTSW |
5 |
86,302,266 (GRCm39) |
missense |
probably benign |
|
|
R2377:Uba6
|
UTSW |
5 |
86,272,229 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R2420:Uba6
|
UTSW |
5 |
86,280,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2421:Uba6
|
UTSW |
5 |
86,280,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2422:Uba6
|
UTSW |
5 |
86,280,475 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2924:Uba6
|
UTSW |
5 |
86,307,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3723:Uba6
|
UTSW |
5 |
86,282,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Uba6
|
UTSW |
5 |
86,282,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Uba6
|
UTSW |
5 |
86,268,406 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4590:Uba6
|
UTSW |
5 |
86,260,603 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4831:Uba6
|
UTSW |
5 |
86,279,197 (GRCm39) |
missense |
probably benign |
|
|
R4908:Uba6
|
UTSW |
5 |
86,288,293 (GRCm39) |
splice site |
silent |
|
|
R5193:Uba6
|
UTSW |
5 |
86,272,281 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5505:Uba6
|
UTSW |
5 |
86,268,405 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5560:Uba6
|
UTSW |
5 |
86,279,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5586:Uba6
|
UTSW |
5 |
86,282,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5589:Uba6
|
UTSW |
5 |
86,270,288 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5787:Uba6
|
UTSW |
5 |
86,260,511 (GRCm39) |
makesense |
probably null |
|
|
R6255:Uba6
|
UTSW |
5 |
86,312,624 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6512:Uba6
|
UTSW |
5 |
86,272,262 (GRCm39) |
missense |
probably benign |
|
|
R6772:Uba6
|
UTSW |
5 |
86,294,932 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R7536:Uba6
|
UTSW |
5 |
86,272,191 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7571:Uba6
|
UTSW |
5 |
86,294,970 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7609:Uba6
|
UTSW |
5 |
86,294,934 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7768:Uba6
|
UTSW |
5 |
86,300,779 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7839:Uba6
|
UTSW |
5 |
86,270,271 (GRCm39) |
splice site |
probably null |
|
|
R7866:Uba6
|
UTSW |
5 |
86,320,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7894:Uba6
|
UTSW |
5 |
86,265,924 (GRCm39) |
nonsense |
probably null |
|
|
R8063:Uba6
|
UTSW |
5 |
86,300,544 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8382:Uba6
|
UTSW |
5 |
86,279,196 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8516:Uba6
|
UTSW |
5 |
86,275,607 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8673:Uba6
|
UTSW |
5 |
86,284,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8778:Uba6
|
UTSW |
5 |
86,260,556 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8817:Uba6
|
UTSW |
5 |
86,296,772 (GRCm39) |
missense |
probably null |
0.10 |
|
R8822:Uba6
|
UTSW |
5 |
86,294,932 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R8852:Uba6
|
UTSW |
5 |
86,289,454 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R8887:Uba6
|
UTSW |
5 |
86,307,061 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9108:Uba6
|
UTSW |
5 |
86,282,934 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9245:Uba6
|
UTSW |
5 |
86,318,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9511:Uba6
|
UTSW |
5 |
86,288,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9669:Uba6
|
UTSW |
5 |
86,268,499 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9677:Uba6
|
UTSW |
5 |
86,265,910 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTATCTGCTGCTTCAAGGTAC -3'
(R):5'- GAAGCTGTCTTCCTGGATCTTG -3'
Sequencing Primer
(F):5'- GCTGCTTCAAGGTACAACTG -3'
(R):5'- ATCTCCAGTAGGAAATACACTCTAC -3'
|
| Posted On |
2020-11-23 |
Incidental Mutation