Incidental Mutation 'R0314:Uba6'
ID |
25368 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba6
|
Ensembl Gene |
ENSMUSG00000035898 |
Gene Name |
ubiquitin-like modifier activating enzyme 6 |
Synonyms |
Ube1l2, 5730469D23Rik |
MMRRC Submission |
038524-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0314 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86265946 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 956
(V956E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
AlphaFold |
Q8C7R4 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039373
AA Change: V987E
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000035328 Gene: ENSMUSG00000035898 AA Change: V987E
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 damaging
Transcript: ENSMUST00000113373
AA Change: V956E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109000 Gene: ENSMUSG00000035898 AA Change: V956E
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 |
0.5664 |
Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.8%
- 10x: 94.9%
- 20x: 88.7%
|
Validation Efficiency |
100% (41/41) |
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arih2 |
T |
C |
9: 108,485,878 (GRCm39) |
N345D |
probably damaging |
Het |
Ascc3 |
C |
T |
10: 50,514,095 (GRCm39) |
S298L |
possibly damaging |
Het |
Cacna1e |
A |
G |
1: 154,317,997 (GRCm39) |
Y1462H |
probably damaging |
Het |
Car9 |
T |
C |
4: 43,509,212 (GRCm39) |
|
probably null |
Het |
Cenpc1 |
A |
T |
5: 86,185,230 (GRCm39) |
M427K |
probably benign |
Het |
Chl1 |
T |
A |
6: 103,624,262 (GRCm39) |
C57S |
probably damaging |
Het |
Cntn3 |
T |
C |
6: 102,397,342 (GRCm39) |
Y77C |
probably damaging |
Het |
Cobll1 |
T |
C |
2: 64,919,865 (GRCm39) |
K1187E |
possibly damaging |
Het |
Fkbpl |
C |
T |
17: 34,865,026 (GRCm39) |
H265Y |
possibly damaging |
Het |
Fmo1 |
T |
G |
1: 162,687,031 (GRCm39) |
E32A |
probably damaging |
Het |
Fnip2 |
G |
A |
3: 79,388,496 (GRCm39) |
T715I |
probably damaging |
Het |
Fzd6 |
T |
A |
15: 38,889,128 (GRCm39) |
I82K |
possibly damaging |
Het |
Grm5 |
T |
C |
7: 87,252,163 (GRCm39) |
S138P |
probably damaging |
Het |
Klra5 |
T |
C |
6: 129,880,553 (GRCm39) |
Y115C |
probably damaging |
Het |
Lgr4 |
T |
C |
2: 109,821,438 (GRCm39) |
|
probably benign |
Het |
Limd1 |
T |
G |
9: 123,345,892 (GRCm39) |
I557S |
probably benign |
Het |
Mpv17l |
A |
T |
16: 13,758,863 (GRCm39) |
I96L |
probably benign |
Het |
Neb |
A |
T |
2: 52,133,343 (GRCm39) |
D3398E |
probably benign |
Het |
Nup155 |
T |
C |
15: 8,176,736 (GRCm39) |
S1005P |
probably benign |
Het |
Or2v2 |
A |
T |
11: 49,004,519 (GRCm39) |
D11E |
possibly damaging |
Het |
Or52a5b |
T |
C |
7: 103,417,388 (GRCm39) |
D72G |
probably damaging |
Het |
Pebp4 |
G |
T |
14: 70,297,103 (GRCm39) |
S214I |
possibly damaging |
Het |
Pex26 |
T |
C |
6: 121,161,443 (GRCm39) |
|
probably null |
Het |
Rbbp8 |
A |
T |
18: 11,848,875 (GRCm39) |
Q230L |
probably benign |
Het |
Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
Robo2 |
G |
A |
16: 73,753,525 (GRCm39) |
T784M |
probably damaging |
Het |
Slc5a1 |
T |
C |
5: 33,303,995 (GRCm39) |
I270T |
probably benign |
Het |
Spag4 |
C |
T |
2: 155,909,229 (GRCm39) |
|
probably benign |
Het |
Stt3a |
T |
C |
9: 36,660,841 (GRCm39) |
|
probably benign |
Het |
Svep1 |
C |
T |
4: 58,096,331 (GRCm39) |
E1430K |
possibly damaging |
Het |
Timd5 |
G |
A |
11: 46,419,364 (GRCm39) |
C60Y |
probably damaging |
Het |
Ube2j1 |
T |
A |
4: 33,043,991 (GRCm39) |
|
probably benign |
Het |
Ubr5 |
A |
G |
15: 37,997,431 (GRCm39) |
S1741P |
probably damaging |
Het |
Vmn2r1 |
A |
G |
3: 63,993,980 (GRCm39) |
T109A |
probably damaging |
Het |
Vmn2r60 |
T |
C |
7: 41,784,985 (GRCm39) |
|
probably benign |
Het |
Vstm2a |
A |
G |
11: 16,318,388 (GRCm39) |
|
probably benign |
Het |
Zdhhc20 |
T |
A |
14: 58,094,076 (GRCm39) |
K195N |
probably damaging |
Het |
Zfp683 |
A |
G |
4: 133,786,052 (GRCm39) |
Y393C |
probably benign |
Het |
Zzz3 |
T |
C |
3: 152,133,085 (GRCm39) |
S48P |
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 |
|
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 |
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'- TGAATGGGGAAACTGCATGTGTTGA -3'
(R):5'- TGCAGCCTCCAATACTGGGGAT -3'
Sequencing Primer
(F):5'- AAACTGCATGTGTTGAGATTAGG -3'
(R):5'- tgagaaaagtgaaaccacagataac -3'
|
Posted On |
2013-04-16 |