Incidental Mutation 'IGL02260:Uckl1'
| ID |
286710 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
IGL02260
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181211381 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 483
(S483P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000057816
AA Change: S483P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: S483P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:CPT
|
98 |
249 |
7e-10 |
PFAM |
|
Pfam:PRK
|
100 |
288 |
5.7e-61 |
PFAM |
|
Pfam:UPRTase
|
326 |
532 |
2.6e-74 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124315
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129469
|
| SMART Domains |
Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
Pfam:CPT
|
98 |
210 |
5.1e-10 |
PFAM |
|
Pfam:AAA_17
|
100 |
251 |
1.1e-8 |
PFAM |
|
Pfam:PRK
|
100 |
288 |
3.4e-60 |
PFAM |
|
Pfam:AAA_18
|
101 |
257 |
5.8e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130893
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000134340
AA Change: S132P
|
| SMART Domains |
Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917
AA Change: S132P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPRTase
|
1 |
182 |
9.8e-63 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136875
|
| SMART Domains |
Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CPT
|
83 |
211 |
2.3e-10 |
PFAM |
|
Pfam:AAA_17
|
85 |
235 |
4.9e-9 |
PFAM |
|
Pfam:PRK
|
85 |
235 |
8.4e-47 |
PFAM |
|
Pfam:AAA_18
|
86 |
235 |
2.7e-8 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142491
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144856
|
| SMART Domains |
Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
12 |
N/A |
INTRINSIC |
|
Pfam:CPT
|
83 |
211 |
2.7e-10 |
PFAM |
|
Pfam:PRK
|
85 |
253 |
7.7e-56 |
PFAM |
|
Pfam:AAA_17
|
86 |
240 |
2.5e-8 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a uridine kinase. Uridine kinases catalyze the phosphorylation of uridine to uridine monophosphate. This protein has been shown to bind to Epstein-Barr nuclear antigen 3 as well as natural killer lytic-associated molecule. Ubiquitination of this protein is enhanced by the presence of natural killer lytic-associated molecule. In addition, protein levels decrease in the presence of natural killer lytic-associated molecule, suggesting that association with natural killer lytic-associated molecule results in ubiquitination and subsequent degradation of this protein. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
C |
T |
17: 57,754,891 (GRCm39) |
A663V |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,602,699 (GRCm39) |
|
probably benign |
Het |
| B4galt6 |
T |
C |
18: 20,833,804 (GRCm39) |
I194V |
probably benign |
Het |
| Caprin1 |
T |
C |
2: 103,609,714 (GRCm39) |
Y188C |
probably damaging |
Het |
| Ccdc85a |
A |
G |
11: 28,526,672 (GRCm39) |
F284S |
possibly damaging |
Het |
| Ccdc88b |
A |
T |
19: 6,832,717 (GRCm39) |
|
probably benign |
Het |
| Cox18 |
C |
T |
5: 90,365,384 (GRCm39) |
V272I |
possibly damaging |
Het |
| Dars1 |
A |
T |
1: 128,299,898 (GRCm39) |
M362K |
probably benign |
Het |
| Ddi1 |
A |
T |
9: 6,265,760 (GRCm39) |
M203K |
probably benign |
Het |
| Dlg4 |
G |
A |
11: 69,933,093 (GRCm39) |
G500R |
probably damaging |
Het |
| Ebf3 |
G |
A |
7: 136,807,919 (GRCm39) |
P375S |
probably damaging |
Het |
| Eif5b |
T |
A |
1: 38,084,537 (GRCm39) |
L842M |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,352,042 (GRCm39) |
A1061V |
possibly damaging |
Het |
| Gm5581 |
T |
C |
6: 131,144,909 (GRCm39) |
|
noncoding transcript |
Het |
| Mapk10 |
A |
T |
5: 103,186,534 (GRCm39) |
D29E |
probably benign |
Het |
| Mib2 |
C |
T |
4: 155,745,628 (GRCm39) |
R61H |
probably damaging |
Het |
| Mki67 |
A |
G |
7: 135,303,697 (GRCm39) |
S724P |
probably benign |
Het |
| Mtor |
T |
C |
4: 148,622,758 (GRCm39) |
I1946T |
probably damaging |
Het |
| Myh14 |
A |
G |
7: 44,260,995 (GRCm39) |
L1873P |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,415,310 (GRCm39) |
Q1226* |
probably null |
Het |
| Neb |
A |
G |
2: 52,095,668 (GRCm39) |
L4858P |
probably damaging |
Het |
| Or51f5 |
A |
T |
7: 102,424,114 (GRCm39) |
I128F |
probably damaging |
Het |
| Or5m9b |
C |
A |
2: 85,905,816 (GRCm39) |
T244K |
possibly damaging |
Het |
| Or5p76 |
T |
C |
7: 108,122,492 (GRCm39) |
I222V |
probably benign |
Het |
| Pcdhb14 |
C |
T |
18: 37,583,086 (GRCm39) |
H731Y |
probably benign |
Het |
| Prdm16 |
T |
C |
4: 154,412,744 (GRCm39) |
N1087S |
probably benign |
Het |
| Prdm2 |
C |
T |
4: 142,861,157 (GRCm39) |
G711D |
probably damaging |
Het |
| Proser1 |
G |
A |
3: 53,386,365 (GRCm39) |
G749D |
probably damaging |
Het |
| Ptch1 |
A |
T |
13: 63,713,166 (GRCm39) |
|
probably benign |
Het |
| Pus10 |
A |
T |
11: 23,657,548 (GRCm39) |
K233* |
probably null |
Het |
| Rasa2 |
A |
G |
9: 96,426,372 (GRCm39) |
Y825H |
probably benign |
Het |
| Tbcd |
T |
C |
11: 121,494,104 (GRCm39) |
F969S |
probably damaging |
Het |
| Tbp |
T |
A |
17: 15,724,878 (GRCm39) |
S133T |
probably damaging |
Het |
| Tnks |
C |
T |
8: 35,310,137 (GRCm39) |
G1062D |
probably damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,764,372 (GRCm39) |
S625T |
probably damaging |
Het |
| Triobp |
T |
C |
15: 78,850,562 (GRCm39) |
S239P |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,564 (GRCm39) |
D115G |
probably benign |
Het |
| Vill |
A |
G |
9: 118,887,509 (GRCm39) |
D91G |
probably benign |
Het |
| Wdr62 |
C |
A |
7: 29,970,207 (GRCm39) |
C200F |
probably damaging |
Het |
| Zfp341 |
G |
A |
2: 154,483,969 (GRCm39) |
C586Y |
possibly damaging |
Het |
| Zfp687 |
G |
A |
3: 94,918,575 (GRCm39) |
T399I |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,894,078 (GRCm39) |
|
probably benign |
Het |
| Zzz3 |
T |
A |
3: 152,157,720 (GRCm39) |
D263E |
probably benign |
Het |
|
| Other mutations in Uckl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00969:Uckl1
|
APN |
2 |
181,211,410 (GRCm39) |
missense |
probably benign |
0.09 |
|
IGL01128:Uckl1
|
APN |
2 |
181,212,130 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01325:Uckl1
|
APN |
2 |
181,216,754 (GRCm39) |
nonsense |
probably null |
|
|
IGL01767:Uckl1
|
APN |
2 |
181,211,327 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02390:Uckl1
|
APN |
2 |
181,216,212 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
IGL03369:Uckl1
|
APN |
2 |
181,211,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0001:Uckl1
|
UTSW |
2 |
181,216,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0528:Uckl1
|
UTSW |
2 |
181,212,283 (GRCm39) |
splice site |
probably benign |
|
|
R1037:Uckl1
|
UTSW |
2 |
181,214,278 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R1355:Uckl1
|
UTSW |
2 |
181,215,169 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1416:Uckl1
|
UTSW |
2 |
181,211,362 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R1435:Uckl1
|
UTSW |
2 |
181,214,926 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1676:Uckl1
|
UTSW |
2 |
181,216,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1723:Uckl1
|
UTSW |
2 |
181,212,393 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1954:Uckl1
|
UTSW |
2 |
181,212,320 (GRCm39) |
missense |
probably benign |
0.17 |
|
R1955:Uckl1
|
UTSW |
2 |
181,212,320 (GRCm39) |
missense |
probably benign |
0.17 |
|
R3972:Uckl1
|
UTSW |
2 |
181,216,256 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4664:Uckl1
|
UTSW |
2 |
181,216,661 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R4666:Uckl1
|
UTSW |
2 |
181,216,661 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5306:Uckl1
|
UTSW |
2 |
181,216,160 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5751:Uckl1
|
UTSW |
2 |
181,216,245 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5758:Uckl1
|
UTSW |
2 |
181,211,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6174:Uckl1
|
UTSW |
2 |
181,214,866 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6662:Uckl1
|
UTSW |
2 |
181,215,053 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6865:Uckl1
|
UTSW |
2 |
181,216,286 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7051:Uckl1
|
UTSW |
2 |
181,216,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7643:Uckl1
|
UTSW |
2 |
181,214,899 (GRCm39) |
missense |
probably benign |
0.08 |
|
R7818:Uckl1
|
UTSW |
2 |
181,216,460 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8094:Uckl1
|
UTSW |
2 |
181,215,049 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8341:Uckl1
|
UTSW |
2 |
181,211,512 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8515:Uckl1
|
UTSW |
2 |
181,216,280 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8980:Uckl1
|
UTSW |
2 |
181,216,157 (GRCm39) |
unclassified |
probably benign |
|
|
R9108:Uckl1
|
UTSW |
2 |
181,211,293 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9377:Uckl1
|
UTSW |
2 |
181,211,532 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF014:Uckl1
|
UTSW |
2 |
181,211,987 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation