Incidental Mutation 'R7609:Uba6'
| ID |
588480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uba6
|
| Ensembl Gene |
ENSMUSG00000035898 |
| Gene Name |
ubiquitin-like modifier activating enzyme 6 |
| Synonyms |
Ube1l2, 5730469D23Rik |
| MMRRC Submission |
045714-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7609 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
86258579-86320602 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86294934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 368
(K368N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035328
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039373]
[ENSMUST00000113373]
|
| AlphaFold |
Q8C7R4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039373
AA Change: K368N
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000035328
Gene: ENSMUSG00000035898
AA Change: K368N
| 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
AA Change: K337N
PolyPhen 2
Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000109000
Gene: ENSMUSG00000035898
AA Change: K337N
| 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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
96% (69/72) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
C |
9: 55,896,744 (GRCm39) |
Y288C |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,229,931 (GRCm39) |
T8I |
probably benign |
Het |
| Agl |
C |
A |
3: 116,600,928 (GRCm39) |
R24I |
possibly damaging |
Het |
| Aldoart2 |
A |
G |
12: 55,612,833 (GRCm39) |
T253A |
probably benign |
Het |
| Ankrd39 |
G |
A |
1: 36,578,546 (GRCm39) |
R160W |
probably damaging |
Het |
| Aspscr1 |
C |
T |
11: 120,568,348 (GRCm39) |
T57M |
probably damaging |
Het |
| Baz2b |
A |
G |
2: 59,792,817 (GRCm39) |
L437S |
probably benign |
Het |
| Bcl9l |
T |
A |
9: 44,417,044 (GRCm39) |
L331Q |
probably damaging |
Het |
| Cdhr4 |
C |
A |
9: 107,874,482 (GRCm39) |
P546T |
probably damaging |
Het |
| Cfap61 |
T |
C |
2: 145,954,453 (GRCm39) |
C231R |
unknown |
Het |
| Cnih4 |
T |
C |
1: 180,983,467 (GRCm39) |
L61P |
probably damaging |
Het |
| Dtx4 |
A |
G |
19: 12,469,645 (GRCm39) |
Y161H |
probably damaging |
Het |
| Epha7 |
C |
T |
4: 28,871,937 (GRCm39) |
S422L |
probably benign |
Het |
| Ercc6 |
A |
G |
14: 32,288,318 (GRCm39) |
H830R |
probably benign |
Het |
| Exoc7 |
T |
C |
11: 116,180,085 (GRCm39) |
N673S |
possibly damaging |
Het |
| Gm12185 |
T |
C |
11: 48,806,850 (GRCm39) |
S114G |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,676,310 (GRCm39) |
F76I |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,257,186 (GRCm39) |
D1413G |
probably benign |
Het |
| Klk1b8 |
G |
A |
7: 43,451,603 (GRCm39) |
C198Y |
probably damaging |
Het |
| Lama3 |
G |
T |
18: 12,664,891 (GRCm39) |
|
probably null |
Het |
| Lce3f |
A |
T |
3: 92,900,403 (GRCm39) |
S75C |
unknown |
Het |
| Ldhal6b |
T |
C |
17: 5,468,266 (GRCm39) |
M223V |
probably benign |
Het |
| Magoh |
T |
C |
4: 107,744,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Mc1r |
A |
T |
8: 124,135,032 (GRCm39) |
I262F |
probably damaging |
Het |
| Mecom |
A |
G |
3: 30,010,591 (GRCm39) |
I629T |
probably damaging |
Het |
| Mkrn2os |
A |
G |
6: 115,563,687 (GRCm39) |
V116A |
possibly damaging |
Het |
| Mtcl3 |
A |
T |
10: 29,024,224 (GRCm39) |
D380V |
probably damaging |
Het |
| Muc5b |
T |
A |
7: 141,415,466 (GRCm39) |
V2804D |
possibly damaging |
Het |
| Myo15a |
T |
C |
11: 60,379,637 (GRCm39) |
V279A |
|
Het |
| Nhlrc2 |
A |
G |
19: 56,583,328 (GRCm39) |
I600V |
probably benign |
Het |
| Nipbl |
T |
C |
15: 8,335,356 (GRCm39) |
Q2183R |
probably benign |
Het |
| Obscn |
C |
T |
11: 58,891,125 (GRCm39) |
E7136K |
unknown |
Het |
| Or10ag56 |
T |
C |
2: 87,139,853 (GRCm39) |
V260A |
probably benign |
Het |
| Or5p4 |
T |
A |
7: 107,680,753 (GRCm39) |
F251I |
probably damaging |
Het |
| Or8c9 |
A |
C |
9: 38,241,520 (GRCm39) |
L209F |
possibly damaging |
Het |
| Or8g37 |
C |
T |
9: 39,731,583 (GRCm39) |
T216I |
probably benign |
Het |
| Otop3 |
T |
C |
11: 115,230,546 (GRCm39) |
I141T |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,622,881 (GRCm39) |
V1443F |
possibly damaging |
Het |
| Pdgfra |
T |
C |
5: 75,327,382 (GRCm39) |
V193A |
probably benign |
Het |
| Phf3 |
T |
C |
1: 30,844,582 (GRCm39) |
Y1459C |
probably benign |
Het |
| Pias4 |
A |
T |
10: 80,993,860 (GRCm39) |
|
probably null |
Het |
| Plcg2 |
A |
G |
8: 118,284,852 (GRCm39) |
N159S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,763,681 (GRCm39) |
D307G |
probably benign |
Het |
| Ptprd |
T |
C |
4: 75,990,240 (GRCm39) |
K491E |
probably benign |
Het |
| Rbpjl |
A |
T |
2: 164,247,734 (GRCm39) |
R62S |
probably benign |
Het |
| Rgs11 |
T |
C |
17: 26,426,415 (GRCm39) |
S245P |
probably damaging |
Het |
| Ripor3 |
G |
A |
2: 167,826,490 (GRCm39) |
A685V |
possibly damaging |
Het |
| Rnase9 |
G |
A |
14: 51,276,940 (GRCm39) |
P13S |
possibly damaging |
Het |
| Saxo5 |
A |
T |
8: 3,526,057 (GRCm39) |
H70L |
probably benign |
Het |
| Scin |
C |
T |
12: 40,174,588 (GRCm39) |
C165Y |
probably damaging |
Het |
| Senp7 |
T |
C |
16: 55,932,000 (GRCm39) |
W100R |
probably benign |
Het |
| Slc26a2 |
T |
C |
18: 61,331,532 (GRCm39) |
D633G |
probably benign |
Het |
| Slc4a4 |
C |
T |
5: 89,283,545 (GRCm39) |
P446S |
probably damaging |
Het |
| Spag17 |
T |
A |
3: 100,002,911 (GRCm39) |
C1878* |
probably null |
Het |
| Ssc5d |
A |
G |
7: 4,930,575 (GRCm39) |
E129G |
possibly damaging |
Het |
| Supt6 |
T |
C |
11: 78,117,777 (GRCm39) |
N480D |
probably benign |
Het |
| Tbk1 |
A |
G |
10: 121,388,406 (GRCm39) |
L590S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,780,539 (GRCm39) |
|
probably null |
Het |
| Tpsg1 |
G |
T |
17: 25,592,184 (GRCm39) |
G86V |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,912,728 (GRCm39) |
S109P |
unknown |
Het |
| Tsga10 |
A |
T |
1: 37,843,974 (GRCm39) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,626,107 (GRCm39) |
L14984* |
probably null |
Het |
| Tyr |
T |
C |
7: 87,133,092 (GRCm39) |
T325A |
probably benign |
Het |
| U2surp |
A |
T |
9: 95,367,732 (GRCm39) |
|
probably null |
Het |
| Upb1 |
A |
G |
10: 75,272,035 (GRCm39) |
T283A |
probably benign |
Het |
| Urb1 |
CACTTAC |
CAC |
16: 90,569,461 (GRCm39) |
|
probably benign |
Het |
| Vmn1r31 |
A |
G |
6: 58,449,455 (GRCm39) |
Y137H |
probably damaging |
Het |
| Wdtc1 |
T |
C |
4: 133,023,748 (GRCm39) |
K541R |
probably damaging |
Het |
| Wrn |
A |
G |
8: 33,800,741 (GRCm39) |
I624T |
possibly damaging |
Het |
| Zfp804b |
T |
A |
5: 6,820,066 (GRCm39) |
D999V |
possibly damaging |
Het |
| Zmym4 |
T |
A |
4: 126,819,588 (GRCm39) |
H105L |
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 |
|
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'- GCCAATTTCTTGTAAGTTAAACACC -3'
(R):5'- ACTATAAGACAGCTAACTTTGAAGC -3'
Sequencing Primer
(F):5'- TGACACATGGTATTATCAGTAC -3'
(R):5'- CCTTGGTGATAATTCCAAAAA -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation