Incidental Mutation 'R4590:Uba6'
| ID |
342737 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4590 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86260603 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 992
(D992V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000039373
AA Change: D1023V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: D1023V
| 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: D992V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: D992V
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankhd1 |
T |
A |
18: 36,716,697 (GRCm39) |
D201E |
probably damaging |
Het |
| Ano10 |
T |
A |
9: 122,086,231 (GRCm39) |
Q398L |
probably benign |
Het |
| Ap3d1 |
A |
T |
10: 80,555,646 (GRCm39) |
L319* |
probably null |
Het |
| Cacna1e |
T |
C |
1: 154,312,265 (GRCm39) |
M1575V |
possibly damaging |
Het |
| Cep192 |
T |
A |
18: 67,949,862 (GRCm39) |
Y315* |
probably null |
Het |
| Cndp2 |
C |
A |
18: 84,687,933 (GRCm39) |
V353F |
probably damaging |
Het |
| Ctsq |
T |
A |
13: 61,184,028 (GRCm39) |
N298I |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,129,695 (GRCm39) |
C1173S |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,931,218 (GRCm39) |
M1993V |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,363,237 (GRCm39) |
V3933A |
probably damaging |
Het |
| Dnpep |
C |
A |
1: 75,293,045 (GRCm39) |
V76L |
probably damaging |
Het |
| Dsc3 |
A |
C |
18: 20,122,752 (GRCm39) |
C57W |
probably damaging |
Het |
| Dtx3 |
A |
G |
10: 127,028,564 (GRCm39) |
S222P |
probably damaging |
Het |
| Eml5 |
T |
C |
12: 98,803,600 (GRCm39) |
Y1009C |
possibly damaging |
Het |
| Fam169a |
A |
G |
13: 97,234,093 (GRCm39) |
I122V |
probably benign |
Het |
| Fgr |
T |
A |
4: 132,722,364 (GRCm39) |
V211E |
probably damaging |
Het |
| Flvcr1 |
T |
C |
1: 190,744,343 (GRCm39) |
T402A |
probably benign |
Het |
| Frmd5 |
C |
T |
2: 121,595,512 (GRCm39) |
|
probably null |
Het |
| Fut2 |
T |
C |
7: 45,300,370 (GRCm39) |
N134S |
possibly damaging |
Het |
| Gm10110 |
A |
T |
14: 90,134,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm7275 |
A |
T |
16: 47,893,982 (GRCm39) |
|
noncoding transcript |
Het |
| Gm904 |
T |
A |
13: 50,799,285 (GRCm39) |
C81* |
probably null |
Het |
| Herc1 |
T |
A |
9: 66,344,946 (GRCm39) |
V1913E |
probably damaging |
Het |
| Hnmt |
T |
C |
2: 23,909,111 (GRCm39) |
|
probably null |
Het |
| Ift172 |
T |
C |
5: 31,411,299 (GRCm39) |
E1643G |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,468,040 (GRCm39) |
M1K |
probably null |
Het |
| Keap1 |
G |
T |
9: 21,148,905 (GRCm39) |
A34D |
probably damaging |
Het |
| Krt25 |
T |
C |
11: 99,208,854 (GRCm39) |
|
probably benign |
Het |
| Lama2 |
A |
G |
10: 26,865,410 (GRCm39) |
V2916A |
probably benign |
Het |
| Ly9 |
G |
A |
1: 171,421,443 (GRCm39) |
Q603* |
probably null |
Het |
| Mis18bp1 |
A |
C |
12: 65,205,280 (GRCm39) |
N14K |
possibly damaging |
Het |
| Mmrn1 |
G |
T |
6: 60,937,797 (GRCm39) |
C265F |
probably damaging |
Het |
| Mrgprb5 |
C |
T |
7: 47,817,809 (GRCm39) |
E309K |
probably benign |
Het |
| Nrtn |
T |
C |
17: 57,058,504 (GRCm39) |
T166A |
probably damaging |
Het |
| Odr4 |
A |
G |
1: 150,262,103 (GRCm39) |
|
probably null |
Het |
| Or8g50 |
T |
C |
9: 39,648,146 (GRCm39) |
F12L |
probably damaging |
Het |
| Osbpl7 |
T |
A |
11: 96,947,098 (GRCm39) |
S266R |
probably damaging |
Het |
| Pcdhb11 |
T |
C |
18: 37,555,549 (GRCm39) |
I293T |
probably damaging |
Het |
| Pes1 |
A |
G |
11: 3,927,986 (GRCm39) |
Y546C |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,551,339 (GRCm39) |
W587R |
probably benign |
Het |
| Rasgrf2 |
A |
G |
13: 92,174,789 (GRCm39) |
Y147H |
probably damaging |
Het |
| Rbbp8 |
T |
A |
18: 11,865,322 (GRCm39) |
L737* |
probably null |
Het |
| Rcor3 |
A |
T |
1: 191,810,217 (GRCm39) |
F153L |
probably damaging |
Het |
| Rev3l |
G |
A |
10: 39,682,929 (GRCm39) |
C349Y |
probably damaging |
Het |
| Rnf115 |
C |
T |
3: 96,695,889 (GRCm39) |
T225M |
probably benign |
Het |
| Rnf157 |
A |
G |
11: 116,250,098 (GRCm39) |
V200A |
probably damaging |
Het |
| Scfd2 |
T |
C |
5: 74,372,917 (GRCm39) |
T653A |
probably benign |
Het |
| Sdccag8 |
T |
C |
1: 176,775,858 (GRCm39) |
Y590H |
probably damaging |
Het |
| Sema4d |
T |
A |
13: 51,877,654 (GRCm39) |
K59N |
probably benign |
Het |
| Serpinb7 |
C |
A |
1: 107,379,563 (GRCm39) |
H323Q |
probably damaging |
Het |
| Setx |
T |
A |
2: 29,034,821 (GRCm39) |
H435Q |
probably damaging |
Het |
| Sgk3 |
T |
C |
1: 9,969,020 (GRCm39) |
S466P |
possibly damaging |
Het |
| Sgsm2 |
T |
C |
11: 74,741,958 (GRCm39) |
M1011V |
probably damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,538 (GRCm39) |
P106L |
probably benign |
Het |
| Taf7 |
T |
C |
18: 37,775,784 (GRCm39) |
Q261R |
possibly damaging |
Het |
| Tbc1d2b |
T |
C |
9: 90,152,553 (GRCm39) |
K71R |
possibly damaging |
Het |
| Tff3 |
C |
T |
17: 31,348,508 (GRCm39) |
V15I |
probably benign |
Het |
| Tgfb3 |
C |
A |
12: 86,124,589 (GRCm39) |
V40L |
possibly damaging |
Het |
| Timm10 |
T |
A |
2: 84,657,992 (GRCm39) |
D2E |
possibly damaging |
Het |
| Ttc16 |
T |
A |
2: 32,663,753 (GRCm39) |
N74I |
probably damaging |
Het |
| Ttll1 |
G |
A |
15: 83,381,546 (GRCm39) |
T241I |
probably damaging |
Het |
| Vmn1r25 |
T |
A |
6: 57,955,480 (GRCm39) |
T270S |
probably benign |
Het |
| Vmn2r106 |
T |
C |
17: 20,497,728 (GRCm39) |
I504V |
probably damaging |
Het |
| Vmn2r87 |
G |
T |
10: 130,315,014 (GRCm39) |
H191N |
possibly damaging |
Het |
| Vnn1 |
C |
A |
10: 23,775,303 (GRCm39) |
F184L |
possibly damaging |
Het |
| Vtn |
A |
T |
11: 78,393,032 (GRCm39) |
I466F |
probably damaging |
Het |
| Zfp352 |
A |
C |
4: 90,112,772 (GRCm39) |
D304A |
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 |
|
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'- TCCACAGTATTATGAGCTGAGC -3'
(R):5'- AGGACGTCCTATTAGATACATGC -3'
Sequencing Primer
(F):5'- CCACAGTATTATGAGCTGAGCTTCTG -3'
(R):5'- AGATACATGCTTTCAATTTGGAGC -3'
|
| Posted On |
2015-09-24 |
Incidental Mutation