Incidental Mutation 'IGL01919:Uba6'
| ID |
180043 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01919
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86267245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 959
(T959A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
AA Change: T959A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: T959A
| 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: T928A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: T928A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700062C07Rik |
A |
G |
18: 24,608,580 (GRCm39) |
|
probably null |
Het |
| Alms1 |
T |
C |
6: 85,604,986 (GRCm39) |
F2212S |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,475,098 (GRCm39) |
I155V |
possibly damaging |
Het |
| Aoc1 |
G |
A |
6: 48,885,223 (GRCm39) |
V653M |
probably damaging |
Het |
| Arl8b |
T |
C |
6: 108,798,518 (GRCm39) |
|
probably benign |
Het |
| Bax |
A |
C |
7: 45,115,552 (GRCm39) |
|
probably null |
Het |
| Cpne7 |
G |
A |
8: 123,852,382 (GRCm39) |
E195K |
probably damaging |
Het |
| Csmd3 |
A |
G |
15: 47,539,168 (GRCm39) |
I2330T |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,501,940 (GRCm39) |
S297P |
probably benign |
Het |
| Farp2 |
A |
G |
1: 93,504,155 (GRCm39) |
K311E |
probably damaging |
Het |
| Fhad1 |
A |
G |
4: 141,691,906 (GRCm39) |
L410P |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm12185 |
T |
C |
11: 48,798,886 (GRCm39) |
T536A |
possibly damaging |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Hydin |
C |
T |
8: 111,245,806 (GRCm39) |
T2173I |
possibly damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,055,556 (GRCm39) |
V783A |
probably benign |
Het |
| Krt1 |
A |
G |
15: 101,754,811 (GRCm39) |
V509A |
unknown |
Het |
| Lrwd1 |
A |
T |
5: 136,164,729 (GRCm39) |
L26* |
probably null |
Het |
| Mal2 |
T |
A |
15: 54,451,728 (GRCm39) |
W50R |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,668,871 (GRCm39) |
E819V |
probably damaging |
Het |
| Mrgprx3-ps |
T |
C |
7: 46,959,959 (GRCm39) |
T11A |
probably benign |
Het |
| Mroh2b |
T |
C |
15: 4,953,170 (GRCm39) |
F635L |
probably benign |
Het |
| Mylip |
G |
A |
13: 45,562,178 (GRCm39) |
E327K |
probably damaging |
Het |
| Nfix |
T |
C |
8: 85,453,103 (GRCm39) |
D308G |
probably damaging |
Het |
| Or1l8 |
G |
A |
2: 36,817,824 (GRCm39) |
Q101* |
probably null |
Het |
| Or7e166 |
G |
A |
9: 19,624,638 (GRCm39) |
V172I |
probably benign |
Het |
| Psma6 |
A |
G |
12: 55,454,254 (GRCm39) |
E26G |
probably damaging |
Het |
| Rgs16 |
T |
A |
1: 153,617,804 (GRCm39) |
S105T |
probably damaging |
Het |
| Slc25a23 |
T |
A |
17: 57,354,291 (GRCm39) |
N372Y |
possibly damaging |
Het |
| Slc35e2 |
A |
G |
4: 155,697,187 (GRCm39) |
M234V |
probably benign |
Het |
| Tbc1d8 |
A |
G |
1: 39,431,334 (GRCm39) |
V346A |
probably damaging |
Het |
| Tgfb1i1 |
C |
T |
7: 127,847,654 (GRCm39) |
|
probably benign |
Het |
| Triml2 |
A |
C |
8: 43,643,349 (GRCm39) |
T177P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation