Incidental Mutation 'R8673:Uba6'
| ID |
661252 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
068528-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8673 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86284178 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 576
(Y576H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039373
AA Change: Y576H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: Y576H
| 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: Y545H
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: Y545H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (50/51) |
| 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: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
G |
T |
17: 48,400,849 (GRCm39) |
E45* |
probably null |
Het |
| Anxa9 |
C |
T |
3: 95,207,657 (GRCm39) |
R250Q |
probably benign |
Het |
| Apaf1 |
A |
G |
10: 90,831,530 (GRCm39) |
S1195P |
probably damaging |
Het |
| Baiap2l1 |
T |
A |
5: 144,212,852 (GRCm39) |
|
probably benign |
Het |
| Bpifb6 |
G |
T |
2: 153,747,212 (GRCm39) |
C172F |
probably damaging |
Het |
| Ccdc9 |
A |
T |
7: 16,018,286 (GRCm39) |
D7E |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,844,846 (GRCm39) |
I580F |
probably damaging |
Het |
| Chchd6 |
T |
A |
6: 89,546,380 (GRCm39) |
S109C |
probably damaging |
Het |
| Cltc |
G |
A |
11: 86,648,201 (GRCm39) |
|
probably benign |
Het |
| Col4a6 |
G |
A |
X: 140,017,173 (GRCm39) |
P60L |
probably damaging |
Het |
| Cxxc1 |
C |
T |
18: 74,351,915 (GRCm39) |
T264I |
probably benign |
Het |
| D5Ertd579e |
A |
G |
5: 36,830,151 (GRCm39) |
S58P |
probably benign |
Het |
| Dlgap1 |
T |
A |
17: 71,122,293 (GRCm39) |
H907Q |
probably damaging |
Het |
| Dnah2 |
A |
T |
11: 69,405,523 (GRCm39) |
M663K |
probably benign |
Het |
| Dock8 |
G |
A |
19: 25,160,867 (GRCm39) |
M1791I |
probably damaging |
Het |
| Esd |
T |
C |
14: 74,969,952 (GRCm39) |
F8S |
probably benign |
Het |
| Etnk2 |
T |
C |
1: 133,302,300 (GRCm39) |
Y273H |
probably damaging |
Het |
| Fry |
C |
A |
5: 150,318,576 (GRCm39) |
H935Q |
possibly damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,235,633 (GRCm39) |
M45R |
possibly damaging |
Het |
| Gata4 |
T |
C |
14: 63,478,258 (GRCm39) |
T114A |
probably benign |
Het |
| Gcnt4 |
G |
A |
13: 97,082,997 (GRCm39) |
D98N |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igkv1-99 |
C |
T |
6: 68,519,387 (GRCm39) |
Q115* |
probably null |
Het |
| Irak3 |
G |
T |
10: 119,982,493 (GRCm39) |
T323K |
possibly damaging |
Het |
| Lrp2 |
T |
C |
2: 69,302,804 (GRCm39) |
D2975G |
probably damaging |
Het |
| Mybph |
T |
A |
1: 134,126,142 (GRCm39) |
W319R |
probably damaging |
Het |
| Nell1 |
A |
G |
7: 49,869,343 (GRCm39) |
D206G |
probably damaging |
Het |
| Or10ag55-ps1 |
A |
T |
2: 87,114,658 (GRCm39) |
D8V |
probably benign |
Het |
| Or4c105 |
T |
C |
2: 88,647,590 (GRCm39) |
V25A |
probably benign |
Het |
| Or5b114-ps1 |
T |
C |
19: 13,352,581 (GRCm39) |
I85T |
probably benign |
Het |
| Pex1 |
A |
C |
5: 3,685,886 (GRCm39) |
D1209A |
possibly damaging |
Het |
| Phf10 |
T |
C |
17: 15,170,868 (GRCm39) |
D355G |
probably benign |
Het |
| Psmd2 |
T |
C |
16: 20,475,638 (GRCm39) |
S413P |
probably damaging |
Het |
| Ptgir |
G |
T |
7: 16,641,287 (GRCm39) |
C193F |
probably damaging |
Het |
| Rad21l |
A |
G |
2: 151,502,718 (GRCm39) |
I164T |
possibly damaging |
Het |
| Ralgapb |
G |
A |
2: 158,292,133 (GRCm39) |
R773H |
probably damaging |
Het |
| Rasgef1b |
G |
T |
5: 99,370,844 (GRCm39) |
N385K |
probably damaging |
Het |
| Shank3 |
C |
T |
15: 89,433,979 (GRCm39) |
R1575C |
probably damaging |
Het |
| Slc7a2 |
G |
T |
8: 41,365,446 (GRCm39) |
|
probably benign |
Het |
| Spata1 |
T |
A |
3: 146,181,079 (GRCm39) |
N293I |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,197,681 (GRCm39) |
A3396T |
probably benign |
Het |
| Sphkap |
T |
C |
1: 83,253,561 (GRCm39) |
H1396R |
probably benign |
Het |
| Spire2 |
A |
G |
8: 124,086,867 (GRCm39) |
E446G |
probably damaging |
Het |
| Tdpoz2 |
A |
T |
3: 93,558,918 (GRCm39) |
C351* |
probably null |
Het |
| Thoc5 |
G |
A |
11: 4,876,061 (GRCm39) |
V605I |
possibly damaging |
Het |
| Ttll2 |
C |
T |
17: 7,619,340 (GRCm39) |
V196I |
possibly damaging |
Het |
| Vegfb |
G |
A |
19: 6,962,812 (GRCm39) |
P188L |
unknown |
Het |
| Vmn1r62 |
A |
G |
7: 5,678,277 (GRCm39) |
|
probably benign |
Het |
| Vmn2r73 |
T |
A |
7: 85,521,902 (GRCm39) |
T146S |
probably benign |
Het |
| Wdr64 |
A |
G |
1: 175,633,584 (GRCm39) |
Y945C |
probably damaging |
Het |
| Zfp870 |
C |
T |
17: 33,101,904 (GRCm39) |
C475Y |
probably damaging |
Het |
| Zfp958 |
A |
T |
8: 4,678,268 (GRCm39) |
T98S |
possibly 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 |
|
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 |
|
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'- CCACATTTAAAGTAGGAACAGCGG -3'
(R):5'- ACCTAAAAGCTATACTGCTGCTG -3'
Sequencing Primer
(F):5'- ACATTTAGGCTGCTTTACCAATAG -3'
(R):5'- GCTGAAGCAACTCTGAAAATAAATC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation