Incidental Mutation 'R8822:Uba6'
| ID |
673104 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
068655-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8822 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site |
| DNA Base Change (assembly) |
A to G
at 86294932 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109000
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| 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 |
|---|
| Adrb1 |
T |
C |
19: 56,711,849 (GRCm39) |
V349A |
probably damaging |
Het |
| Atp2a2 |
A |
G |
5: 122,629,772 (GRCm39) |
V99A |
possibly damaging |
Het |
| Bank1 |
T |
A |
3: 135,809,640 (GRCm39) |
D418V |
possibly damaging |
Het |
| Cacna1d |
A |
G |
14: 29,900,692 (GRCm39) |
V331A |
probably benign |
Het |
| Cd28 |
A |
T |
1: 60,808,820 (GRCm39) |
N178I |
possibly damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,843,706 (GRCm39) |
|
probably null |
Het |
| Ceacam12 |
T |
C |
7: 17,803,378 (GRCm39) |
|
probably benign |
Het |
| Cfap54 |
G |
A |
10: 92,875,003 (GRCm39) |
A494V |
probably benign |
Het |
| Chpt1 |
A |
G |
10: 88,324,268 (GRCm39) |
V180A |
probably damaging |
Het |
| Cplane1 |
T |
C |
15: 8,201,262 (GRCm39) |
I13T |
probably damaging |
Het |
| Cplx3 |
A |
G |
9: 57,514,471 (GRCm39) |
V493A |
probably benign |
Het |
| Cyp4a31 |
G |
A |
4: 115,422,225 (GRCm39) |
E70K |
probably benign |
Het |
| Fam151a |
A |
T |
4: 106,602,842 (GRCm39) |
M254L |
probably benign |
Het |
| Fyco1 |
A |
T |
9: 123,648,184 (GRCm39) |
I1250N |
probably damaging |
Het |
| Gm6685 |
T |
G |
11: 28,289,768 (GRCm39) |
Q16P |
probably benign |
Het |
| Gpr26 |
A |
G |
7: 131,568,997 (GRCm39) |
Y114C |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,941,389 (GRCm39) |
V433D |
probably benign |
Het |
| Hps3 |
A |
G |
3: 20,057,391 (GRCm39) |
W930R |
probably benign |
Het |
| Igdcc4 |
C |
T |
9: 65,031,298 (GRCm39) |
T412I |
possibly damaging |
Het |
| Klhl35 |
T |
C |
7: 99,122,055 (GRCm39) |
V485A |
probably benign |
Het |
| Lmo7 |
A |
G |
14: 102,121,610 (GRCm39) |
D225G |
probably damaging |
Het |
| Myo15a |
C |
T |
11: 60,367,740 (GRCm39) |
R167C |
probably damaging |
Het |
| Obp2a |
A |
T |
2: 25,590,188 (GRCm39) |
D29V |
probably damaging |
Het |
| Or10d3 |
C |
A |
9: 39,461,812 (GRCm39) |
M118I |
probably benign |
Het |
| Or13a22 |
A |
G |
7: 140,072,926 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Or52b2 |
A |
G |
7: 104,986,809 (GRCm39) |
V38A |
probably benign |
Het |
| Or5d47 |
A |
G |
2: 87,804,785 (GRCm39) |
S75P |
possibly damaging |
Het |
| Or8g4 |
A |
G |
9: 39,661,700 (GRCm39) |
Y6C |
probably benign |
Het |
| Pde6b |
A |
G |
5: 108,551,328 (GRCm39) |
E204G |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,784,615 (GRCm39) |
V387A |
probably benign |
Het |
| Pkd1l1 |
A |
T |
11: 8,806,312 (GRCm39) |
I2054K |
|
Het |
| Pkp1 |
T |
A |
1: 135,807,661 (GRCm39) |
M536L |
probably benign |
Het |
| Platr25 |
T |
C |
13: 62,848,658 (GRCm39) |
E68G |
probably benign |
Het |
| Plxna4 |
T |
C |
6: 32,127,431 (GRCm39) |
D1892G |
possibly damaging |
Het |
| Pramel30 |
A |
G |
4: 144,057,092 (GRCm39) |
K92E |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,699,763 (GRCm39) |
L76P |
unknown |
Het |
| Ptprz1 |
T |
A |
6: 23,002,588 (GRCm39) |
N1559K |
probably damaging |
Het |
| Rbl2 |
A |
T |
8: 91,833,346 (GRCm39) |
N750I |
possibly damaging |
Het |
| Rhpn2 |
A |
T |
7: 35,090,228 (GRCm39) |
M617L |
probably benign |
Het |
| Rprd2 |
A |
G |
3: 95,691,613 (GRCm39) |
S221P |
probably damaging |
Het |
| S100a4 |
T |
C |
3: 90,512,358 (GRCm39) |
S14P |
probably benign |
Het |
| Samd11 |
A |
T |
4: 156,336,764 (GRCm39) |
L25Q |
probably damaging |
Het |
| Sash1 |
G |
A |
10: 8,761,615 (GRCm39) |
|
probably benign |
Het |
| Scn9a |
A |
G |
2: 66,370,979 (GRCm39) |
S534P |
probably damaging |
Het |
| Sec31b |
C |
A |
19: 44,507,702 (GRCm39) |
V781F |
probably benign |
Het |
| Setd1a |
C |
T |
7: 127,385,332 (GRCm39) |
L680F |
possibly damaging |
Het |
| Slc10a2 |
T |
G |
8: 5,139,149 (GRCm39) |
Q265P |
probably damaging |
Het |
| Slc27a1 |
T |
A |
8: 72,033,308 (GRCm39) |
D283E |
probably damaging |
Het |
| Slc38a4 |
G |
A |
15: 96,906,952 (GRCm39) |
T262M |
probably benign |
Het |
| Slc52a3 |
T |
G |
2: 151,846,513 (GRCm39) |
V158G |
probably benign |
Het |
| Snx16 |
T |
C |
3: 10,484,125 (GRCm39) |
V64A |
probably benign |
Het |
| Stox1 |
A |
T |
10: 62,499,900 (GRCm39) |
W887R |
probably damaging |
Het |
| Tcap |
G |
A |
11: 98,275,264 (GRCm39) |
V133M |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,578,444 (GRCm39) |
L217P |
probably damaging |
Het |
| Tnfrsf12a |
T |
C |
17: 23,895,188 (GRCm39) |
S87G |
probably benign |
Het |
| Tyr |
G |
A |
7: 87,142,330 (GRCm39) |
R77C |
probably damaging |
Het |
| Usp24 |
G |
A |
4: 106,269,410 (GRCm39) |
V2107M |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,544,920 (GRCm39) |
S118P |
probably damaging |
Het |
| Zbtb21 |
G |
A |
16: 97,752,516 (GRCm39) |
T589I |
probably damaging |
Het |
| Zfp263 |
G |
T |
16: 3,562,004 (GRCm39) |
|
probably benign |
Het |
| Zfp318 |
A |
G |
17: 46,723,831 (GRCm39) |
T1945A |
probably benign |
Het |
| Zfp644 |
G |
T |
5: 106,783,087 (GRCm39) |
R1065S |
possibly damaging |
Het |
| Zfp668 |
A |
T |
7: 127,466,315 (GRCm39) |
S290T |
probably damaging |
Het |
| Zfp808 |
T |
A |
13: 62,320,869 (GRCm39) |
D699E |
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 |
|
|
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 |
|
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'- GCCAATTTCTTGTAAGTTAAACACC -3'
(R):5'- TGTCTTAGATGACCATGATTTTGAC -3'
Sequencing Primer
(F):5'- ATGACACATGGTATTATCAGT -3'
(R):5'- GACTATAAGACAGCTAACTTTGAAGC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation