Incidental Mutation 'R8778:Uba6'
| ID |
670113 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
068603-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8778 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86260556 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 1039
(P1039T)
|
| 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: P1039T
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: P1039T
| 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: P1008T
PolyPhen 2
Score 0.541 (Sensitivity: 0.88; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: P1008T
| 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: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A430033K04Rik |
T |
A |
5: 138,645,149 (GRCm39) |
C345S |
possibly damaging |
Het |
| Acod1 |
A |
G |
14: 103,292,918 (GRCm39) |
T481A |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 85,432,687 (GRCm39) |
V5A |
probably benign |
Het |
| Ahnak2 |
T |
A |
12: 112,783,158 (GRCm38) |
Q1023L |
|
Het |
| Akt1 |
C |
T |
12: 112,625,102 (GRCm39) |
E149K |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,140,240 (GRCm39) |
E240G |
probably damaging |
Het |
| Asap1 |
G |
A |
15: 63,999,258 (GRCm39) |
P516S |
probably benign |
Het |
| Ccdc88c |
T |
C |
12: 100,911,483 (GRCm39) |
R784G |
probably benign |
Het |
| Cep290 |
T |
A |
10: 100,350,374 (GRCm39) |
L656* |
probably null |
Het |
| Chd2 |
A |
C |
7: 73,079,483 (GRCm39) |
S1806A |
possibly damaging |
Het |
| Cyp4f15 |
G |
T |
17: 32,921,378 (GRCm39) |
A475S |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,455,718 (GRCm39) |
T814A |
probably benign |
Het |
| Dnah8 |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
CGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTTTGACTTTCCTGTGTCTTCAATATTTTGTTCCCTTTCCCGTAGGTGCCGTCCTT |
17: 30,979,841 (GRCm39) |
|
probably null |
Het |
| Eif4g1 |
G |
A |
16: 20,492,196 (GRCm39) |
|
probably benign |
Het |
| Entpd8 |
G |
A |
2: 24,971,858 (GRCm39) |
V9I |
probably benign |
Het |
| Frmd4a |
C |
T |
2: 4,478,026 (GRCm39) |
T65M |
probably damaging |
Het |
| Gabrr2 |
T |
C |
4: 33,095,517 (GRCm39) |
Y469H |
probably damaging |
Het |
| Gjd3 |
T |
C |
11: 98,873,842 (GRCm39) |
M1V |
probably null |
Het |
| Golga7 |
T |
C |
8: 23,735,944 (GRCm39) |
N101D |
possibly damaging |
Het |
| Hebp1 |
A |
G |
6: 135,145,068 (GRCm39) |
F10L |
probably benign |
Het |
| Hs3st3a1 |
T |
A |
11: 64,327,251 (GRCm39) |
V120E |
probably benign |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Iho1 |
A |
G |
9: 108,282,807 (GRCm39) |
S294P |
probably damaging |
Het |
| Inhbc |
A |
G |
10: 127,193,693 (GRCm39) |
S108P |
probably damaging |
Het |
| Itgbl1 |
T |
A |
14: 124,078,075 (GRCm39) |
D188E |
probably benign |
Het |
| Lmo7 |
T |
G |
14: 102,149,503 (GRCm39) |
S1091A |
probably damaging |
Het |
| Lmo7 |
T |
C |
14: 102,156,655 (GRCm39) |
V1275A |
probably benign |
Het |
| Lrrc25 |
T |
G |
8: 71,070,242 (GRCm39) |
L8V |
possibly damaging |
Het |
| Lyst |
T |
C |
13: 13,810,361 (GRCm39) |
I677T |
possibly damaging |
Het |
| Lyst |
A |
G |
13: 13,903,152 (GRCm39) |
N3174S |
possibly damaging |
Het |
| Mgst3 |
C |
T |
1: 167,203,032 (GRCm39) |
V80I |
probably benign |
Het |
| Mtmr12 |
A |
G |
15: 12,270,006 (GRCm39) |
N698S |
probably benign |
Het |
| Myo18a |
A |
G |
11: 77,714,150 (GRCm39) |
Y748C |
probably damaging |
Het |
| Myoz2 |
T |
C |
3: 122,800,156 (GRCm39) |
N224S |
possibly damaging |
Het |
| Nebl |
T |
C |
2: 17,409,078 (GRCm39) |
Y340C |
probably damaging |
Het |
| Or10h28 |
T |
C |
17: 33,488,420 (GRCm39) |
S241P |
probably damaging |
Het |
| Pcdha9 |
G |
T |
18: 37,132,244 (GRCm39) |
V438L |
possibly damaging |
Het |
| Pramel13 |
T |
C |
4: 144,119,466 (GRCm39) |
D367G |
probably damaging |
Het |
| Semp2l2b |
T |
A |
10: 21,943,356 (GRCm39) |
E208V |
probably damaging |
Het |
| Sfrp2 |
T |
G |
3: 83,674,093 (GRCm39) |
L82R |
probably damaging |
Het |
| Spata7 |
T |
A |
12: 98,624,815 (GRCm39) |
L239Q |
probably damaging |
Het |
| Syncrip |
A |
T |
9: 88,338,294 (GRCm39) |
I590N |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,309,066 (GRCm39) |
T648A |
probably benign |
Het |
| Tmc5 |
A |
G |
7: 118,222,816 (GRCm39) |
Y172C |
unknown |
Het |
| Trim30a |
A |
T |
7: 104,060,772 (GRCm39) |
Y335N |
probably benign |
Het |
| Trmt10c |
A |
G |
16: 55,855,372 (GRCm39) |
S88P |
probably benign |
Het |
| Trpc3 |
T |
C |
3: 36,725,070 (GRCm39) |
E302G |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,591,580 (GRCm39) |
T21030A |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,497 (GRCm39) |
I435N |
probably benign |
Het |
| Zfp1008 |
T |
C |
13: 62,753,169 (GRCm39) |
K73E |
possibly damaging |
Het |
| Zkscan5 |
T |
C |
5: 145,155,142 (GRCm39) |
V271A |
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 |
|
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'- AGCAACAGACAAATGTGTACTATGC -3'
(R):5'- TGCAAGTTCAATCTCTGACTAGTAC -3'
Sequencing Primer
(F):5'- GGTTTGTAATTCTCCACTCTAGTAAG -3'
(R):5'- AGCCTTCCACTGAGAAGA -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation