Incidental Mutation 'R9108:Uba6'
ID |
692068 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba6
|
Ensembl Gene |
ENSMUSG00000035898 |
Gene Name |
ubiquitin-like modifier activating enzyme 6 |
Synonyms |
Ube1l2, 5730469D23Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9108 (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 T
at 86282934 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Serine
at position 581
(C581S)
|
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: C581S
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000035328 Gene: ENSMUSG00000035898 AA Change: C581S
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: C550S
PolyPhen 2
Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000109000 Gene: ENSMUSG00000035898 AA Change: C550S
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: 99.2%
|
Validation Efficiency |
100% (65/65) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921524L21Rik |
G |
A |
18: 6,638,794 (GRCm39) |
V398M |
probably benign |
Het |
4930568D16Rik |
G |
A |
2: 35,244,942 (GRCm39) |
P137S |
probably damaging |
Het |
Abcb9 |
T |
C |
5: 124,228,176 (GRCm39) |
T22A |
possibly damaging |
Het |
Abcg8 |
A |
C |
17: 85,000,243 (GRCm39) |
I268L |
probably benign |
Het |
Acvrl1 |
A |
G |
15: 101,039,038 (GRCm39) |
Q445R |
probably damaging |
Het |
Adam17 |
T |
C |
12: 21,380,132 (GRCm39) |
N625D |
probably benign |
Het |
Adamts9 |
C |
T |
6: 92,857,721 (GRCm39) |
V856M |
probably damaging |
Het |
Adar |
T |
C |
3: 89,643,474 (GRCm39) |
C452R |
probably damaging |
Het |
Adgra3 |
G |
T |
5: 50,136,295 (GRCm39) |
A730D |
probably damaging |
Het |
Adnp2 |
C |
T |
18: 80,185,925 (GRCm39) |
R16Q |
probably damaging |
Het |
Aox1 |
T |
C |
1: 58,321,851 (GRCm39) |
C48R |
probably damaging |
Het |
Cabin1 |
T |
C |
10: 75,492,973 (GRCm39) |
E1774G |
possibly damaging |
Het |
Capsl |
A |
T |
15: 9,465,910 (GRCm39) |
I199F |
possibly damaging |
Het |
Ccdc191 |
T |
A |
16: 43,718,512 (GRCm39) |
D36E |
possibly damaging |
Het |
Cep170 |
T |
A |
1: 176,616,051 (GRCm39) |
K86* |
probably null |
Het |
Cnnm1 |
T |
C |
19: 43,464,649 (GRCm39) |
F736S |
possibly damaging |
Het |
Col11a2 |
T |
A |
17: 34,276,634 (GRCm39) |
V532E |
probably benign |
Het |
Dnmt3l |
T |
C |
10: 77,892,756 (GRCm39) |
|
probably null |
Het |
Dync1h1 |
T |
A |
12: 110,622,706 (GRCm39) |
|
probably benign |
Het |
Dzank1 |
C |
A |
2: 144,364,391 (GRCm39) |
V69L |
probably benign |
Het |
Epor |
T |
G |
9: 21,870,875 (GRCm39) |
E335A |
probably damaging |
Het |
Fbxo46 |
A |
T |
7: 18,870,308 (GRCm39) |
Y309F |
probably damaging |
Het |
Fra10ac1 |
A |
T |
19: 38,202,779 (GRCm39) |
|
probably benign |
Het |
Gid8 |
G |
T |
2: 180,352,132 (GRCm39) |
|
probably benign |
Het |
Gm57858 |
T |
G |
3: 36,080,036 (GRCm39) |
*240C |
probably null |
Het |
Gnptab |
C |
T |
10: 88,269,400 (GRCm39) |
S701L |
|
Het |
Ifnl3 |
T |
C |
7: 28,223,704 (GRCm39) |
L180P |
probably benign |
Het |
Ikzf2 |
T |
A |
1: 69,577,956 (GRCm39) |
I518F |
probably damaging |
Het |
Ildr1 |
A |
G |
16: 36,535,919 (GRCm39) |
T145A |
probably benign |
Het |
Kiss1r |
A |
T |
10: 79,754,336 (GRCm39) |
|
probably benign |
Het |
Lhpp |
A |
G |
7: 132,252,018 (GRCm39) |
D219G |
probably damaging |
Het |
Lrp1 |
A |
T |
10: 127,390,206 (GRCm39) |
M3071K |
probably damaging |
Het |
Map6 |
T |
C |
7: 98,986,103 (GRCm39) |
L872P |
probably damaging |
Het |
Mgst2 |
T |
A |
3: 51,589,233 (GRCm39) |
L82Q |
probably damaging |
Het |
Mier2 |
A |
T |
10: 79,377,756 (GRCm39) |
V399E |
probably benign |
Het |
Nms |
T |
C |
1: 38,985,147 (GRCm39) |
V91A |
possibly damaging |
Het |
Nt5dc2 |
T |
A |
14: 30,857,016 (GRCm39) |
Y145* |
probably null |
Het |
Olfml2a |
A |
T |
2: 38,831,753 (GRCm39) |
M111L |
probably benign |
Het |
Or5p63 |
T |
C |
7: 107,810,846 (GRCm39) |
N297D |
probably damaging |
Het |
Or5p75-ps1 |
T |
A |
7: 108,107,779 (GRCm39) |
L172Q |
unknown |
Het |
Plod3 |
T |
C |
5: 137,018,017 (GRCm39) |
I221T |
probably damaging |
Het |
Polm |
T |
C |
11: 5,779,872 (GRCm39) |
Q342R |
probably benign |
Het |
Ppp2r5c |
A |
T |
12: 110,521,303 (GRCm39) |
L275F |
probably damaging |
Het |
Prdm12 |
C |
T |
2: 31,533,929 (GRCm39) |
T182M |
possibly damaging |
Het |
Rasgrp2 |
G |
A |
19: 6,458,890 (GRCm39) |
V440M |
probably damaging |
Het |
Rnf111 |
C |
T |
9: 70,336,846 (GRCm39) |
G947D |
probably damaging |
Het |
Runx3 |
A |
T |
4: 134,882,692 (GRCm39) |
M143L |
probably damaging |
Het |
Samd9l |
T |
C |
6: 3,373,104 (GRCm39) |
S1386G |
possibly damaging |
Het |
Saxo2 |
C |
T |
7: 82,284,082 (GRCm39) |
V259I |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,087,975 (GRCm39) |
S242P |
probably damaging |
Het |
Slc35e1 |
G |
A |
8: 73,246,030 (GRCm39) |
P134L |
|
Het |
Spata31d1a |
A |
G |
13: 59,850,982 (GRCm39) |
V382A |
probably benign |
Het |
Tanc2 |
T |
A |
11: 105,810,580 (GRCm39) |
|
probably benign |
Het |
Tenm3 |
A |
T |
8: 48,766,271 (GRCm39) |
|
probably null |
Het |
Trip10 |
C |
T |
17: 57,560,519 (GRCm39) |
A123V |
probably damaging |
Het |
Trmt13 |
A |
G |
3: 116,375,129 (GRCm39) |
S460P |
probably damaging |
Het |
Trpd52l3 |
A |
G |
19: 29,981,329 (GRCm39) |
N28S |
probably benign |
Het |
Tubb4a |
A |
G |
17: 57,388,232 (GRCm39) |
F265L |
probably benign |
Het |
Uckl1 |
A |
G |
2: 181,211,293 (GRCm39) |
V512A |
probably damaging |
Het |
Usp34 |
A |
T |
11: 23,320,528 (GRCm39) |
M957L |
|
Het |
Vmn2r57 |
T |
C |
7: 41,078,192 (GRCm39) |
I89V |
possibly damaging |
Het |
Zfp1005 |
T |
A |
2: 150,109,969 (GRCm39) |
C220S |
possibly damaging |
Het |
Zfp322a |
T |
C |
13: 23,541,437 (GRCm39) |
I102V |
probably benign |
Het |
Zzef1 |
A |
G |
11: 72,790,604 (GRCm39) |
D2186G |
probably benign |
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 |
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 |
|
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'- GCACATATGGGTCAACCTGTCAG -3'
(R):5'- AAACTGTTACGTGGGTCATGTTC -3'
Sequencing Primer
(F):5'- GGTCAACCTGTCAGAGCTAAAGTC -3'
(R):5'- GTGGGTCATGTTCTATTCGCTACAC -3'
|
Posted On |
2021-12-30 |