Incidental Mutation 'R0964:Uba6'
ID |
81464 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uba6
|
Ensembl Gene |
ENSMUSG00000035898 |
Gene Name |
ubiquitin-like modifier activating enzyme 6 |
Synonyms |
Ube1l2, 5730469D23Rik |
MMRRC Submission |
039093-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0964 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 86267260 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 923
(I923V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
AlphaFold |
Q8C7R4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
AA Change: I954V
PolyPhen 2
Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000035328 Gene: ENSMUSG00000035898 AA Change: I954V
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: I923V
PolyPhen 2
Score 0.466 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000109000 Gene: ENSMUSG00000035898 AA Change: I923V
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
|
Meta Mutation Damage Score |
0.1072 |
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 96.9%
- 20x: 94.0%
|
Validation Efficiency |
98% (55/56) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
A |
T |
7: 40,642,480 (GRCm39) |
T141S |
probably benign |
Het |
Acacb |
A |
T |
5: 114,367,813 (GRCm39) |
M1604L |
possibly damaging |
Het |
Acp3 |
A |
G |
9: 104,204,174 (GRCm39) |
V40A |
possibly damaging |
Het |
Adgrl1 |
T |
C |
8: 84,661,041 (GRCm39) |
|
probably benign |
Het |
Alppl2 |
C |
T |
1: 87,015,446 (GRCm39) |
V372I |
possibly damaging |
Het |
Apol8 |
C |
T |
15: 77,633,811 (GRCm39) |
S255N |
probably benign |
Het |
Atp8b4 |
A |
T |
2: 126,179,413 (GRCm39) |
F973I |
probably damaging |
Het |
Bbs4 |
A |
G |
9: 59,230,259 (GRCm39) |
*150Q |
probably null |
Het |
Bltp3a |
A |
T |
17: 28,106,152 (GRCm39) |
T893S |
probably damaging |
Het |
Cacna1h |
A |
T |
17: 25,597,749 (GRCm39) |
|
probably benign |
Het |
Ccn1 |
C |
A |
3: 145,353,503 (GRCm39) |
C353F |
probably damaging |
Het |
Ccser2 |
C |
T |
14: 36,630,965 (GRCm39) |
|
probably benign |
Het |
Chd9 |
A |
G |
8: 91,741,832 (GRCm39) |
E1607G |
probably benign |
Het |
Clca4b |
A |
G |
3: 144,621,337 (GRCm39) |
I579T |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,626,278 (GRCm39) |
|
probably benign |
Het |
Creg2 |
T |
C |
1: 39,664,144 (GRCm39) |
I205V |
probably benign |
Het |
Ddx24 |
C |
T |
12: 103,390,166 (GRCm39) |
R275H |
probably damaging |
Het |
Dip2c |
G |
A |
13: 9,618,699 (GRCm39) |
A579T |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,551,962 (GRCm39) |
|
probably benign |
Het |
Dnah8 |
G |
A |
17: 30,892,894 (GRCm39) |
|
probably null |
Het |
Gckr |
T |
C |
5: 31,484,259 (GRCm39) |
|
probably benign |
Het |
Gpbp1l1 |
A |
G |
4: 116,438,436 (GRCm39) |
|
probably benign |
Het |
Hmcn2 |
A |
G |
2: 31,281,523 (GRCm39) |
T1913A |
probably benign |
Het |
Lmo7 |
T |
C |
14: 102,158,003 (GRCm39) |
|
probably benign |
Het |
Meioc |
G |
A |
11: 102,570,857 (GRCm39) |
V863I |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,112,430 (GRCm39) |
D1799G |
probably damaging |
Het |
Myh1 |
A |
G |
11: 67,096,751 (GRCm39) |
I341V |
probably benign |
Het |
Myh13 |
A |
G |
11: 67,235,828 (GRCm39) |
T664A |
probably benign |
Het |
Myo3b |
A |
C |
2: 70,257,193 (GRCm39) |
D1269A |
probably damaging |
Het |
Nckap1 |
A |
G |
2: 80,378,243 (GRCm39) |
|
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,635,297 (GRCm39) |
|
probably null |
Het |
Nxpe5 |
T |
C |
5: 138,238,186 (GRCm39) |
S249P |
probably damaging |
Het |
Or52z1 |
C |
T |
7: 103,436,604 (GRCm39) |
M293I |
probably benign |
Het |
Or8k16 |
A |
G |
2: 85,520,709 (GRCm39) |
N312S |
probably benign |
Het |
Or9a4 |
T |
C |
6: 40,549,139 (GRCm39) |
V273A |
probably benign |
Het |
Pitpnm3 |
G |
A |
11: 71,949,296 (GRCm39) |
T675I |
probably damaging |
Het |
Plekhm1 |
C |
A |
11: 103,285,908 (GRCm39) |
E176* |
probably null |
Het |
Prdm11 |
C |
A |
2: 92,819,567 (GRCm39) |
|
probably benign |
Het |
Prodh2 |
C |
A |
7: 30,205,706 (GRCm39) |
R218S |
probably damaging |
Het |
Rps15a |
T |
C |
7: 117,714,060 (GRCm39) |
D54G |
probably benign |
Het |
Sbno2 |
G |
T |
10: 79,920,093 (GRCm39) |
T46N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,697,243 (GRCm39) |
|
probably benign |
Het |
Sema3c |
T |
C |
5: 17,926,907 (GRCm39) |
F567L |
probably damaging |
Het |
Slc36a1 |
A |
G |
11: 55,116,780 (GRCm39) |
|
probably benign |
Het |
Spaca6 |
A |
T |
17: 18,058,653 (GRCm39) |
E284V |
possibly damaging |
Het |
Srsf3 |
C |
A |
17: 29,255,412 (GRCm39) |
L66I |
probably damaging |
Het |
Srsf3 |
T |
A |
17: 29,255,413 (GRCm39) |
L66Q |
probably damaging |
Het |
Syne1 |
T |
C |
10: 4,993,652 (GRCm39) |
T8363A |
possibly damaging |
Het |
Trmt1 |
T |
A |
8: 85,423,481 (GRCm39) |
L298Q |
probably damaging |
Het |
Vmn2r106 |
G |
A |
17: 20,487,859 (GRCm39) |
H847Y |
probably benign |
Het |
Vmn2r15 |
T |
C |
5: 109,445,401 (GRCm39) |
T8A |
probably benign |
Het |
Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
probably benign |
Het |
Zbtb41 |
T |
G |
1: 139,366,769 (GRCm39) |
F583V |
probably damaging |
Het |
Zfp938 |
T |
A |
10: 82,061,253 (GRCm39) |
I456F |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACAGGAGCGAACCTGATAAAGAATTTAGAAC -3'
(R):5'- TCTGCACTTTGAAACCCCTACAACTAC -3'
Sequencing Primer
(F):5'- GAGGCACATTACACAGAAACCCT -3'
(R):5'- ACATACTTGAAATGAGTCACTGC -3'
|
Posted On |
2013-11-07 |