Incidental Mutation 'R8516:Uba6'
| ID |
656140 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
067848-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8516 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 86275607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 760
(S760R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039373
AA Change: S760R
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: S760R
| 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 |
possibly damaging
Transcript: ENSMUST00000113373
AA Change: S729R
PolyPhen 2
Score 0.780 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: S729R
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdhppt |
A |
T |
9: 4,309,373 (GRCm39) |
S22T |
probably benign |
Het |
| Acte1 |
T |
A |
7: 143,451,011 (GRCm39) |
I342N |
probably damaging |
Het |
| Actr8 |
G |
T |
14: 29,712,856 (GRCm39) |
A500S |
probably benign |
Het |
| Adamtsl1 |
A |
G |
4: 86,260,780 (GRCm39) |
Y1005C |
probably damaging |
Het |
| Ank3 |
T |
A |
10: 69,763,559 (GRCm39) |
Y884* |
probably null |
Het |
| Arhgap28 |
T |
C |
17: 68,180,068 (GRCm39) |
R306G |
probably benign |
Het |
| Atp8a2 |
A |
C |
14: 59,928,921 (GRCm39) |
I1044M |
probably benign |
Het |
| Bahd1 |
A |
G |
2: 118,747,452 (GRCm39) |
Y357C |
probably benign |
Het |
| Btd |
A |
T |
14: 31,388,824 (GRCm39) |
T182S |
probably damaging |
Het |
| Casc3 |
C |
T |
11: 98,713,607 (GRCm39) |
R280C |
probably damaging |
Het |
| Cisd2 |
T |
C |
3: 135,116,774 (GRCm39) |
T106A |
probably damaging |
Het |
| Cldn15 |
G |
T |
5: 137,003,550 (GRCm39) |
C184F |
probably damaging |
Het |
| Clk4 |
G |
A |
11: 51,166,088 (GRCm39) |
R198Q |
probably damaging |
Het |
| Coprs |
G |
T |
8: 13,935,065 (GRCm39) |
F163L |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 47,492,761 (GRCm39) |
R2216* |
probably null |
Het |
| Defb7 |
A |
T |
8: 19,547,623 (GRCm39) |
I43F |
possibly damaging |
Het |
| Dpp8 |
C |
A |
9: 64,985,291 (GRCm39) |
T783K |
probably damaging |
Het |
| Eif2s1 |
G |
A |
12: 78,927,936 (GRCm39) |
G204D |
probably damaging |
Het |
| Elavl4 |
T |
C |
4: 110,108,576 (GRCm39) |
N56S |
probably damaging |
Het |
| Emilin1 |
G |
A |
5: 31,074,515 (GRCm39) |
R252H |
probably damaging |
Het |
| Exd1 |
A |
T |
2: 119,350,554 (GRCm39) |
L569Q |
probably damaging |
Het |
| Gpn2 |
C |
T |
4: 133,312,142 (GRCm39) |
R125C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,294 (GRCm39) |
E582G |
probably benign |
Het |
| Hadha |
A |
T |
5: 30,331,582 (GRCm39) |
V458E |
probably damaging |
Het |
| Hap1 |
T |
C |
11: 100,246,893 (GRCm39) |
K4R |
possibly damaging |
Het |
| Hectd4 |
A |
T |
5: 121,487,073 (GRCm39) |
H3356L |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,856,318 (GRCm39) |
V3919I |
probably benign |
Het |
| Lgr6 |
G |
T |
1: 135,003,021 (GRCm39) |
N76K |
probably damaging |
Het |
| Or52w1 |
A |
G |
7: 105,017,976 (GRCm39) |
I148V |
probably benign |
Het |
| P4ha3 |
A |
G |
7: 99,963,869 (GRCm39) |
M462V |
probably damaging |
Het |
| Pde3b |
A |
T |
7: 114,126,084 (GRCm39) |
M773L |
probably benign |
Het |
| Peak1 |
T |
C |
9: 56,167,284 (GRCm39) |
S215G |
probably damaging |
Het |
| Pgm5 |
T |
A |
19: 24,793,074 (GRCm39) |
M331L |
probably benign |
Het |
| Piwil2 |
A |
G |
14: 70,658,188 (GRCm39) |
V213A |
probably benign |
Het |
| Plch2 |
T |
C |
4: 155,070,764 (GRCm39) |
H1205R |
probably benign |
Het |
| Pop4 |
A |
T |
7: 37,966,826 (GRCm39) |
M85K |
probably benign |
Het |
| Ppp3ca |
T |
A |
3: 136,583,529 (GRCm39) |
I212N |
probably damaging |
Het |
| Prom1 |
T |
C |
5: 44,164,441 (GRCm39) |
K714R |
probably benign |
Het |
| Psip1 |
C |
T |
4: 83,384,952 (GRCm39) |
G207S |
probably benign |
Het |
| Rgs22 |
A |
G |
15: 36,010,481 (GRCm39) |
*1259Q |
probably null |
Het |
| Scn1a |
C |
T |
2: 66,156,478 (GRCm39) |
G477D |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,051,262 (GRCm39) |
E222G |
probably null |
Het |
| Snrpa1 |
G |
A |
7: 65,720,381 (GRCm39) |
G195R |
probably benign |
Het |
| Spem2 |
T |
C |
11: 69,707,721 (GRCm39) |
R415G |
possibly damaging |
Het |
| Tmem167 |
T |
A |
13: 90,246,515 (GRCm39) |
V13E |
probably damaging |
Het |
| Trim2 |
C |
T |
3: 84,115,627 (GRCm39) |
A102T |
probably damaging |
Het |
| Trim30b |
A |
G |
7: 104,006,611 (GRCm39) |
S82P |
probably benign |
Het |
| Upf2 |
T |
C |
2: 6,023,782 (GRCm39) |
F711L |
unknown |
Het |
| Utrn |
T |
A |
10: 12,362,254 (GRCm39) |
D2693V |
probably damaging |
Het |
| Vmn1r30 |
T |
G |
6: 58,412,109 (GRCm39) |
Y241S |
probably damaging |
Het |
| Vmn2r110 |
A |
G |
17: 20,794,875 (GRCm39) |
L598P |
probably damaging |
Het |
| Wfdc18 |
T |
A |
11: 83,599,984 (GRCm39) |
F14Y |
probably benign |
Het |
| Wnt10b |
A |
T |
15: 98,670,761 (GRCm39) |
C256S |
probably damaging |
Het |
| Xrn1 |
T |
A |
9: 95,930,444 (GRCm39) |
Y1554* |
probably null |
Het |
| Zc3h12a |
T |
A |
4: 125,013,632 (GRCm39) |
S411C |
probably damaging |
Het |
| Zfp112 |
G |
A |
7: 23,823,389 (GRCm39) |
G63E |
probably benign |
Het |
| Zfp786 |
A |
T |
6: 47,797,477 (GRCm39) |
L487Q |
probably damaging |
Het |
| Zfp953 |
T |
A |
13: 67,493,419 (GRCm39) |
Y75F |
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 |
|
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'- CAACTTCTGCCATTAGAATAGAGAG -3'
(R):5'- TCCTGATGACTGCTTGAATATAGTG -3'
Sequencing Primer
(F):5'- CTTAAGGCAAGTTCTAGCTCATGGC -3'
(R):5'- CAAAAGGACATTTGGTATTCCTCTTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation