Incidental Mutation 'IGL03107:Uba6'
| ID |
419050 |
| 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 # |
IGL03107
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 86275633 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 |
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930003A15Rik |
T |
C |
16: 19,702,518 (GRCm39) |
|
noncoding transcript |
Het |
| Angpt4 |
A |
G |
2: 151,785,342 (GRCm39) |
M453V |
probably benign |
Het |
| Atr |
T |
A |
9: 95,779,783 (GRCm39) |
D1380E |
probably benign |
Het |
| Carmil1 |
A |
T |
13: 24,278,438 (GRCm39) |
M177K |
probably damaging |
Het |
| Cenpk |
T |
A |
13: 104,379,280 (GRCm39) |
I203N |
probably damaging |
Het |
| Cerk |
A |
T |
15: 86,027,014 (GRCm39) |
N165K |
probably benign |
Het |
| Col27a1 |
G |
A |
4: 63,242,869 (GRCm39) |
|
probably benign |
Het |
| Crb2 |
A |
T |
2: 37,681,428 (GRCm39) |
D757V |
probably benign |
Het |
| Csnk1a1 |
A |
G |
18: 61,701,376 (GRCm39) |
D91G |
probably damaging |
Het |
| Dnajc6 |
G |
T |
4: 101,474,057 (GRCm39) |
W486L |
probably damaging |
Het |
| Elmod1 |
C |
T |
9: 53,841,507 (GRCm39) |
|
probably benign |
Het |
| Ercc3 |
G |
T |
18: 32,381,360 (GRCm39) |
R392L |
possibly damaging |
Het |
| Fam135b |
C |
T |
15: 71,335,410 (GRCm39) |
V595I |
probably benign |
Het |
| Fem1al |
T |
A |
11: 29,774,360 (GRCm39) |
I366F |
probably damaging |
Het |
| Fermt1 |
A |
T |
2: 132,775,059 (GRCm39) |
S256T |
probably damaging |
Het |
| Fstl5 |
G |
T |
3: 76,443,618 (GRCm39) |
C321F |
probably damaging |
Het |
| Gpatch1 |
T |
G |
7: 35,002,742 (GRCm39) |
N256T |
probably benign |
Het |
| Gpd2 |
T |
A |
2: 57,245,581 (GRCm39) |
S425R |
probably damaging |
Het |
| Igkv4-57-1 |
T |
G |
6: 69,521,574 (GRCm39) |
M43L |
probably benign |
Het |
| Itgae |
A |
G |
11: 73,004,427 (GRCm39) |
Q238R |
probably damaging |
Het |
| Lats1 |
T |
A |
10: 7,588,510 (GRCm39) |
D1042E |
probably benign |
Het |
| Lcn8 |
G |
A |
2: 25,545,377 (GRCm39) |
G156D |
probably damaging |
Het |
| Loxl4 |
A |
C |
19: 42,593,718 (GRCm39) |
V224G |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,285,177 (GRCm39) |
D3827V |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,073,837 (GRCm39) |
R231S |
probably benign |
Het |
| Or2g1 |
G |
A |
17: 38,106,679 (GRCm39) |
V115I |
probably benign |
Het |
| Or5b105 |
A |
T |
19: 13,080,401 (GRCm39) |
M89K |
probably benign |
Het |
| Or6c211 |
A |
G |
10: 129,505,809 (GRCm39) |
M193T |
probably benign |
Het |
| Or6d13 |
T |
G |
6: 116,517,900 (GRCm39) |
M162R |
possibly damaging |
Het |
| Or8g54 |
T |
G |
9: 39,707,475 (GRCm39) |
M268R |
probably benign |
Het |
| Pappa |
T |
G |
4: 65,122,940 (GRCm39) |
S758R |
probably damaging |
Het |
| Pced1a |
G |
A |
2: 130,264,755 (GRCm39) |
T61I |
possibly damaging |
Het |
| Pik3cg |
T |
C |
12: 32,250,594 (GRCm39) |
D731G |
probably damaging |
Het |
| Plxnb1 |
G |
A |
9: 108,934,054 (GRCm39) |
D761N |
probably benign |
Het |
| Pmp22 |
T |
C |
11: 63,049,135 (GRCm39) |
V126A |
probably benign |
Het |
| Ppp6r2 |
G |
T |
15: 89,152,748 (GRCm39) |
R296S |
probably damaging |
Het |
| Prkcq |
A |
C |
2: 11,265,597 (GRCm39) |
H438P |
probably damaging |
Het |
| Ryr1 |
T |
A |
7: 28,774,624 (GRCm39) |
Y2339F |
probably damaging |
Het |
| Scaper |
T |
C |
9: 55,765,686 (GRCm39) |
|
probably benign |
Het |
| Scp2 |
T |
A |
4: 107,955,312 (GRCm39) |
I144F |
probably benign |
Het |
| Secisbp2 |
T |
C |
13: 51,806,793 (GRCm39) |
|
probably null |
Het |
| Sema5a |
T |
A |
15: 32,669,554 (GRCm39) |
Y693N |
probably damaging |
Het |
| Sin3b |
T |
A |
8: 73,480,213 (GRCm39) |
I905K |
probably damaging |
Het |
| Slc13a3 |
T |
A |
2: 165,279,227 (GRCm39) |
M195L |
probably benign |
Het |
| Strada |
A |
G |
11: 106,054,863 (GRCm39) |
|
probably benign |
Het |
| Stx18 |
G |
A |
5: 38,293,655 (GRCm39) |
V294M |
probably damaging |
Het |
| Tbpl2 |
A |
T |
2: 23,983,845 (GRCm39) |
N197K |
probably benign |
Het |
| Tdrd9 |
A |
T |
12: 112,009,274 (GRCm39) |
H1060L |
probably damaging |
Het |
| Tm4sf5 |
G |
A |
11: 70,396,223 (GRCm39) |
V23M |
possibly damaging |
Het |
| Tmem54 |
C |
A |
4: 129,004,705 (GRCm39) |
L187I |
probably damaging |
Het |
| Tmprss5 |
A |
G |
9: 49,024,528 (GRCm39) |
H281R |
possibly damaging |
Het |
| Trim30c |
A |
G |
7: 104,031,820 (GRCm39) |
Y332H |
possibly damaging |
Het |
| Unc80 |
C |
A |
1: 66,670,613 (GRCm39) |
P1912Q |
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 |
|
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 |
2016-08-02 |
Incidental Mutation