Incidental Mutation 'R7536:Uba6'
| ID |
583586 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
045608-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7536 (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 T
at 86272191 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 833
(S833T)
|
| 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: S833T
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: S833T
| 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: S802T
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: S802T
| 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: 99.7%
- 20x: 99.1%
|
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| AI597479 |
C |
G |
1: 43,150,505 (GRCm39) |
A205G |
possibly damaging |
Het |
| Akr1c14 |
T |
A |
13: 4,113,690 (GRCm39) |
V74E |
probably damaging |
Het |
| Armh4 |
G |
T |
14: 50,011,703 (GRCm39) |
|
probably null |
Het |
| Bbs9 |
A |
T |
9: 22,582,096 (GRCm39) |
Q596L |
probably damaging |
Het |
| Bub3 |
A |
G |
7: 131,170,432 (GRCm39) |
D318G |
probably damaging |
Het |
| Cela1 |
A |
G |
15: 100,573,245 (GRCm39) |
V248A |
probably damaging |
Het |
| Cer1 |
C |
A |
4: 82,803,205 (GRCm39) |
R39L |
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,456,708 (GRCm39) |
T624A |
possibly damaging |
Het |
| Coro1c |
C |
A |
5: 113,983,350 (GRCm39) |
G393W |
probably damaging |
Het |
| Crym |
A |
G |
7: 119,800,331 (GRCm39) |
L97P |
probably damaging |
Het |
| Cyp2a5 |
T |
G |
7: 26,539,903 (GRCm39) |
L317R |
probably damaging |
Het |
| Cyp2j6 |
C |
A |
4: 96,423,774 (GRCm39) |
G198V |
probably damaging |
Het |
| Dnajb6 |
A |
G |
5: 29,962,804 (GRCm39) |
E238G |
possibly damaging |
Het |
| Dnhd1 |
C |
A |
7: 105,358,768 (GRCm39) |
T3419K |
probably damaging |
Het |
| Dpep3 |
A |
T |
8: 106,704,032 (GRCm39) |
I262K |
probably damaging |
Het |
| Dscam |
T |
G |
16: 96,442,226 (GRCm39) |
|
probably null |
Het |
| Farsb |
A |
G |
1: 78,420,391 (GRCm39) |
V500A |
possibly damaging |
Het |
| Fbxl20 |
A |
T |
11: 97,986,209 (GRCm39) |
C136* |
probably null |
Het |
| Fbxo43 |
G |
T |
15: 36,161,997 (GRCm39) |
D403E |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,874,432 (GRCm39) |
S1397P |
probably damaging |
Het |
| Fut8 |
A |
G |
12: 77,521,852 (GRCm39) |
Y497C |
probably damaging |
Het |
| Gbp3 |
A |
T |
3: 142,272,156 (GRCm39) |
R219S |
probably damaging |
Het |
| Gm14295 |
T |
A |
2: 176,502,722 (GRCm39) |
H737Q |
possibly damaging |
Het |
| Gpr89 |
C |
A |
3: 96,798,209 (GRCm39) |
R149L |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,732,186 (GRCm39) |
Y1592N |
probably damaging |
Het |
| Gria4 |
A |
C |
9: 4,464,298 (GRCm39) |
Y555D |
probably damaging |
Het |
| Hspa1b |
T |
A |
17: 35,177,851 (GRCm39) |
T45S |
possibly damaging |
Het |
| Kif5b |
A |
T |
18: 6,216,235 (GRCm39) |
N571K |
probably benign |
Het |
| Mapkbp1 |
T |
A |
2: 119,849,066 (GRCm39) |
M694K |
probably damaging |
Het |
| Med24 |
G |
A |
11: 98,603,447 (GRCm39) |
H439Y |
possibly damaging |
Het |
| Mgl2 |
G |
T |
11: 70,027,833 (GRCm39) |
R347L |
probably benign |
Het |
| Mms22l |
T |
A |
4: 24,581,240 (GRCm39) |
L850Q |
probably damaging |
Het |
| Mrpl51 |
T |
C |
6: 125,169,530 (GRCm39) |
V44A |
possibly damaging |
Het |
| Mylk3 |
T |
C |
8: 86,080,233 (GRCm39) |
I485V |
probably benign |
Het |
| Or10ag54 |
C |
T |
2: 87,099,943 (GRCm39) |
Q273* |
probably null |
Het |
| Or7e174 |
C |
A |
9: 20,012,826 (GRCm39) |
T257K |
probably damaging |
Het |
| Pde4dip |
A |
G |
3: 97,664,560 (GRCm39) |
L434P |
probably damaging |
Het |
| Pla2g4a |
T |
C |
1: 149,755,768 (GRCm39) |
Y223C |
probably damaging |
Het |
| Plcl1 |
C |
T |
1: 55,752,640 (GRCm39) |
Q995* |
probably null |
Het |
| Pls1 |
C |
T |
9: 95,644,110 (GRCm39) |
C462Y |
probably damaging |
Het |
| Ppp6r3 |
T |
C |
19: 3,557,341 (GRCm39) |
E249G |
possibly damaging |
Het |
| Prb1a |
T |
A |
6: 132,184,184 (GRCm39) |
N483I |
unknown |
Het |
| R3hdm1 |
A |
G |
1: 128,109,948 (GRCm39) |
|
probably null |
Het |
| Rasgrp3 |
T |
C |
17: 75,821,128 (GRCm39) |
F445S |
probably damaging |
Het |
| Rnf39 |
G |
T |
17: 37,254,009 (GRCm39) |
L10F |
probably damaging |
Het |
| Rnh1 |
T |
C |
7: 140,740,725 (GRCm39) |
D410G |
possibly damaging |
Het |
| Sfi1 |
ACA |
ACATCTTCCCAAAGCCAGTCA |
11: 3,103,382 (GRCm39) |
|
probably benign |
Het |
| Sh3bp2 |
A |
G |
5: 34,700,901 (GRCm39) |
T35A |
probably benign |
Het |
| Skint6 |
T |
A |
4: 112,668,744 (GRCm39) |
|
probably null |
Het |
| Slc13a1 |
A |
T |
6: 24,100,330 (GRCm39) |
D384E |
probably damaging |
Het |
| Slc27a6 |
A |
G |
18: 58,689,698 (GRCm39) |
T55A |
probably damaging |
Het |
| Slc46a2 |
G |
A |
4: 59,914,141 (GRCm39) |
Q261* |
probably null |
Het |
| Spata31d1e |
C |
T |
13: 59,889,556 (GRCm39) |
V755M |
probably damaging |
Het |
| St7 |
C |
G |
6: 17,886,019 (GRCm39) |
P327R |
probably damaging |
Het |
| Stx1a |
T |
C |
5: 135,078,694 (GRCm39) |
I268T |
probably damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tgm7 |
T |
A |
2: 120,926,878 (GRCm39) |
R424* |
probably null |
Het |
| Tmem144 |
A |
T |
3: 79,734,964 (GRCm39) |
N151K |
probably benign |
Het |
| Tmem145 |
T |
C |
7: 25,007,294 (GRCm39) |
S171P |
probably damaging |
Het |
| Traf2 |
A |
G |
2: 25,427,118 (GRCm39) |
Y78H |
possibly damaging |
Het |
| Tsc22d1 |
A |
G |
14: 76,742,203 (GRCm39) |
Y16C |
probably benign |
Het |
| Ttc39b |
A |
T |
4: 83,158,215 (GRCm39) |
Y503* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,547,681 (GRCm39) |
D32163G |
probably benign |
Het |
| Wdtc1 |
A |
G |
4: 133,022,561 (GRCm39) |
L595P |
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 |
|
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 |
|
|
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'- CTAGCTAGACCTGGTCAACATCTAAAG -3'
(R):5'- GTCGTAGTCAAACTTGGAAGTAAAG -3'
Sequencing Primer
(F):5'- GTCTACCAAGTGAGTTCCAGGAC -3'
(R):5'- GGTTGTTCAAACAGACGAAA -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation