Incidental Mutation 'R6512:Uba6'
| ID |
519948 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
045017-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6512 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 86272262 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Lysine
at position 778
(R778K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
AA Change: R809K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: R809K
| 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
AA Change: R778K
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: R778K
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147734
|
| Meta Mutation Damage Score |
0.0601 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 93.9%
|
| Validation Efficiency |
100% (39/39) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700122O11Rik |
A |
G |
17: 48,347,672 (GRCm39) |
S211P |
possibly damaging |
Het |
| Abcb11 |
T |
C |
2: 69,112,996 (GRCm39) |
T674A |
probably benign |
Het |
| Acad11 |
G |
T |
9: 103,972,758 (GRCm39) |
E484* |
probably null |
Het |
| Ankhd1 |
A |
T |
18: 36,724,509 (GRCm39) |
D389V |
probably damaging |
Het |
| Asic4 |
T |
A |
1: 75,449,687 (GRCm39) |
L439* |
probably null |
Het |
| Atp13a2 |
A |
G |
4: 140,730,529 (GRCm39) |
T808A |
probably damaging |
Het |
| Capn13 |
C |
A |
17: 73,689,985 (GRCm39) |
V9L |
probably benign |
Het |
| Chst11 |
A |
G |
10: 83,027,302 (GRCm39) |
Y243C |
probably damaging |
Het |
| Ctdp1 |
A |
T |
18: 80,494,478 (GRCm39) |
W308R |
probably damaging |
Het |
| Dnttip2 |
A |
G |
3: 122,069,172 (GRCm39) |
E129G |
possibly damaging |
Het |
| Dock5 |
A |
G |
14: 68,062,097 (GRCm39) |
S424P |
possibly damaging |
Het |
| Ebf1 |
C |
T |
11: 44,883,168 (GRCm39) |
H469Y |
probably damaging |
Het |
| Efhc1 |
A |
T |
1: 21,030,573 (GRCm39) |
N169Y |
probably damaging |
Het |
| Elmo1 |
T |
C |
13: 20,557,331 (GRCm39) |
L424P |
probably damaging |
Het |
| Ighv1-59 |
A |
G |
12: 115,299,003 (GRCm39) |
V16A |
probably damaging |
Het |
| Kcnc1 |
T |
G |
7: 46,076,821 (GRCm39) |
C208G |
probably damaging |
Het |
| Kif13b |
A |
T |
14: 64,982,323 (GRCm39) |
|
probably null |
Het |
| Lilra6 |
T |
A |
7: 3,917,387 (GRCm39) |
N203Y |
probably benign |
Het |
| Mrtfa |
T |
C |
15: 80,897,917 (GRCm39) |
T787A |
probably benign |
Het |
| Myh8 |
A |
T |
11: 67,180,488 (GRCm39) |
K575* |
probably null |
Het |
| Nedd1 |
C |
T |
10: 92,527,737 (GRCm39) |
A486T |
probably benign |
Het |
| Or2aj5 |
A |
T |
16: 19,425,109 (GRCm39) |
L103H |
probably damaging |
Het |
| Phrf1 |
T |
C |
7: 140,840,309 (GRCm39) |
I1168T |
possibly damaging |
Het |
| Pla2g12a |
T |
A |
3: 129,682,606 (GRCm39) |
H59Q |
probably benign |
Het |
| Ralbp1 |
A |
G |
17: 66,168,270 (GRCm39) |
V345A |
probably damaging |
Het |
| Ryr3 |
C |
T |
2: 112,697,723 (GRCm39) |
V894M |
possibly damaging |
Het |
| Sec24b |
T |
A |
3: 129,834,946 (GRCm39) |
Y84F |
probably damaging |
Het |
| Slc22a26 |
T |
C |
19: 7,779,865 (GRCm39) |
|
probably benign |
Het |
| Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
| Spats1 |
C |
T |
17: 45,763,599 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
T |
A |
10: 121,414,526 (GRCm39) |
N63Y |
probably damaging |
Het |
| Tbl1xr1 |
C |
T |
3: 22,194,698 (GRCm39) |
|
probably benign |
Het |
| Top2b |
T |
A |
14: 16,409,854 (GRCm38) |
D840E |
possibly damaging |
Het |
| Trpc3 |
T |
A |
3: 36,716,907 (GRCm39) |
Y377F |
possibly damaging |
Het |
| Vmn2r101 |
A |
T |
17: 19,809,146 (GRCm39) |
I92F |
probably damaging |
Het |
| Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
| Vmn2r70 |
G |
T |
7: 85,215,305 (GRCm39) |
F76L |
probably benign |
Het |
| Vwa3b |
A |
G |
1: 37,102,723 (GRCm39) |
|
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,578,474 (GRCm39) |
T880S |
probably damaging |
Het |
| Zfp64 |
C |
A |
2: 168,735,997 (GRCm39) |
G560V |
probably benign |
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 |
|
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 |
|
R8276:Uba6
|
UTSW |
5 |
86,290,509 (GRCm39) |
intron |
probably benign |
|
|
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'- CCCCAAACCAGAAATCTTTATGATG -3'
(R):5'- GGAGGCCCAGGTTATATCATAAAC -3'
Sequencing Primer
(F):5'- GAGTCCCTCTTACTTTTGG -3'
(R):5'- CCCAGGTTATATCATAAACATGCTAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation