Incidental Mutation 'IGL00969:Uckl1'
ID |
26996 |
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 # |
IGL00969
|
Quality Score |
|
Status
|
|
Chromosome |
2 |
Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 181211410 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 473
(D473G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
AlphaFold |
Q91YL3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000057816
AA Change: D473G
PolyPhen 2
Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000050398 Gene: ENSMUSG00000089917 AA Change: D473G
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: D122G
|
SMART Domains |
Protein: ENSMUSP00000122098 Gene: ENSMUSG00000089917 AA Change: D122G
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: ENSMUST00000149332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap9 |
G |
A |
5: 4,051,550 (GRCm39) |
S1439N |
probably benign |
Het |
Bcl9l |
A |
G |
9: 44,419,539 (GRCm39) |
T1069A |
possibly damaging |
Het |
Btaf1 |
T |
G |
19: 36,988,652 (GRCm39) |
|
probably benign |
Het |
Cdc40 |
A |
T |
10: 40,719,124 (GRCm39) |
V335E |
probably damaging |
Het |
Cenpj |
A |
T |
14: 56,802,420 (GRCm39) |
N48K |
possibly damaging |
Het |
Cfh |
A |
G |
1: 140,016,420 (GRCm39) |
W635R |
probably damaging |
Het |
Clca3a1 |
A |
G |
3: 144,714,719 (GRCm39) |
S633P |
possibly damaging |
Het |
Cnot6 |
T |
C |
11: 49,575,947 (GRCm39) |
M176V |
probably benign |
Het |
Cryz |
G |
T |
3: 154,324,163 (GRCm39) |
E51* |
probably null |
Het |
Dcc |
A |
G |
18: 71,589,954 (GRCm39) |
Y681H |
probably benign |
Het |
Dmxl1 |
T |
A |
18: 50,045,792 (GRCm39) |
N2412K |
probably benign |
Het |
Gpr137b |
C |
T |
13: 13,539,650 (GRCm39) |
W258* |
probably null |
Het |
Hnf1b |
A |
G |
11: 83,773,526 (GRCm39) |
T242A |
probably benign |
Het |
Hsd11b1 |
A |
T |
1: 192,905,952 (GRCm39) |
C213* |
probably null |
Het |
Igsf11 |
A |
T |
16: 38,829,279 (GRCm39) |
T117S |
probably damaging |
Het |
Inpp5b |
T |
C |
4: 124,677,787 (GRCm39) |
Y416H |
probably damaging |
Het |
Kcnq3 |
C |
A |
15: 65,876,575 (GRCm39) |
V523F |
probably damaging |
Het |
Krtap9-5 |
T |
C |
11: 99,839,291 (GRCm39) |
|
probably benign |
Het |
Lrig3 |
T |
C |
10: 125,832,984 (GRCm39) |
L286S |
probably damaging |
Het |
Myo18b |
C |
T |
5: 113,022,873 (GRCm39) |
|
probably benign |
Het |
Nup58 |
A |
G |
14: 60,466,365 (GRCm39) |
|
probably benign |
Het |
Or51b6b |
T |
A |
7: 103,310,274 (GRCm39) |
Y61F |
probably damaging |
Het |
Or5b94 |
T |
C |
19: 12,651,605 (GRCm39) |
L12P |
probably damaging |
Het |
Or5h18 |
A |
G |
16: 58,847,994 (GRCm39) |
I92T |
possibly damaging |
Het |
Or8k16 |
G |
A |
2: 85,520,007 (GRCm39) |
C78Y |
probably benign |
Het |
Pyroxd2 |
T |
C |
19: 42,719,877 (GRCm39) |
D443G |
possibly damaging |
Het |
Ttc28 |
A |
G |
5: 111,373,606 (GRCm39) |
D1014G |
probably benign |
Het |
Tubgcp5 |
T |
A |
7: 55,456,343 (GRCm39) |
S312T |
possibly damaging |
Het |
Vmn2r76 |
G |
T |
7: 85,877,925 (GRCm39) |
H491N |
probably benign |
Het |
Wwc2 |
G |
A |
8: 48,299,193 (GRCm39) |
R1039W |
unknown |
Het |
Zc3h14 |
T |
A |
12: 98,725,102 (GRCm39) |
S255T |
probably benign |
Het |
Zfp369 |
T |
C |
13: 65,445,074 (GRCm39) |
V739A |
probably benign |
Het |
Zfyve21 |
A |
G |
12: 111,791,368 (GRCm39) |
|
probably benign |
Het |
Znhit6 |
A |
G |
3: 145,300,351 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Uckl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
IGL02260:Uckl1
|
APN |
2 |
181,211,381 (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 |
2013-04-17 |