Incidental Mutation 'R3972:Uckl1'
| ID |
311008 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| MMRRC Submission |
040840-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R3972 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 181216256 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 148
(D148G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114821
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057816
AA Change: D163G
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: D163G
| 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: ENSMUST00000123110
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124315
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000129469
AA Change: D163G
PolyPhen 2
Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: D163G
| 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 |
probably benign
Transcript: ENSMUST00000131949
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134340
|
| SMART Domains |
Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:UPRTase
|
1 |
182 |
9.8e-63 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136875
AA Change: D148G
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
AA Change: D148G
| 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: ENSMUST00000142491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144856
AA Change: D147G
|
| SMART Domains |
Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: D147G
| 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 |
noncoding transcript
Transcript: ENSMUST00000146823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148847
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.1%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alk |
T |
G |
17: 72,292,442 (GRCm39) |
D512A |
probably benign |
Het |
| Avl9 |
T |
C |
6: 56,720,393 (GRCm39) |
F477S |
probably damaging |
Het |
| C7 |
C |
T |
15: 5,037,133 (GRCm39) |
V582I |
possibly damaging |
Het |
| Cldn20 |
A |
G |
17: 3,582,914 (GRCm39) |
N29S |
probably benign |
Het |
| Coro2b |
C |
T |
9: 62,336,522 (GRCm39) |
A251T |
possibly damaging |
Het |
| Dnah3 |
T |
A |
7: 119,685,943 (GRCm39) |
D131V |
probably damaging |
Het |
| Dusp12 |
T |
C |
1: 170,707,344 (GRCm39) |
K248R |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Fgf1 |
T |
C |
18: 38,980,147 (GRCm39) |
T76A |
probably benign |
Het |
| Gucy2c |
C |
T |
6: 136,685,364 (GRCm39) |
R859K |
probably damaging |
Het |
| Irf2bp1 |
T |
A |
7: 18,739,369 (GRCm39) |
D336E |
possibly damaging |
Het |
| Lpar6 |
A |
G |
14: 73,476,513 (GRCm39) |
H158R |
probably benign |
Het |
| Ltbp3 |
G |
A |
19: 5,804,050 (GRCm39) |
R854Q |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,881,210 (GRCm39) |
C2814R |
possibly damaging |
Het |
| Man2b1 |
A |
G |
8: 85,812,020 (GRCm39) |
N158S |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mrpl16 |
A |
G |
19: 11,750,239 (GRCm39) |
N41S |
probably benign |
Het |
| Myo5b |
C |
T |
18: 74,873,598 (GRCm39) |
L1501F |
probably damaging |
Het |
| Nudt9 |
G |
T |
5: 104,194,991 (GRCm39) |
C29F |
probably benign |
Het |
| Or4d11 |
G |
T |
19: 12,013,383 (GRCm39) |
T241N |
probably damaging |
Het |
| Otop1 |
A |
G |
5: 38,457,533 (GRCm39) |
I431V |
probably benign |
Het |
| Otp |
T |
G |
13: 95,019,692 (GRCm39) |
L181R |
probably damaging |
Het |
| Pde4a |
A |
G |
9: 21,117,513 (GRCm39) |
T592A |
probably damaging |
Het |
| Pi4ka |
A |
G |
16: 17,111,739 (GRCm39) |
Y1579H |
probably damaging |
Het |
| Rb1cc1 |
T |
C |
1: 6,319,224 (GRCm39) |
V864A |
probably benign |
Het |
| Reln |
A |
T |
5: 22,183,999 (GRCm39) |
F1667I |
probably damaging |
Het |
| Serpinb10 |
T |
A |
1: 107,463,852 (GRCm39) |
F45I |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,248,649 (GRCm39) |
N422K |
probably damaging |
Het |
| Slc17a7 |
A |
G |
7: 44,819,334 (GRCm39) |
I137V |
possibly damaging |
Het |
| Tet1 |
T |
A |
10: 62,649,505 (GRCm39) |
E67D |
probably damaging |
Het |
| Tpcn1 |
C |
A |
5: 120,691,817 (GRCm39) |
|
probably null |
Het |
| Trav9-4 |
T |
C |
14: 53,913,877 (GRCm39) |
Y44H |
possibly damaging |
Het |
| Trmt1l |
A |
G |
1: 151,309,634 (GRCm39) |
N106D |
possibly damaging |
Het |
| Ttll12 |
A |
T |
15: 83,466,297 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubfd1 |
T |
G |
7: 121,666,656 (GRCm39) |
S51A |
probably benign |
Het |
| Usp34 |
T |
C |
11: 23,407,803 (GRCm39) |
L2571S |
probably damaging |
Het |
| Wdr75 |
T |
C |
1: 45,861,714 (GRCm39) |
V718A |
probably benign |
Het |
| Zfp266 |
A |
G |
9: 20,411,446 (GRCm39) |
S244P |
probably damaging |
Het |
| Zfp979 |
G |
A |
4: 147,702,876 (GRCm39) |
Q25* |
probably null |
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 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GATGACATTCGCACCATACAG -3'
(R):5'- TATAAGGTGAGGCCCTGCTC -3'
Sequencing Primer
(F):5'- CGCACCATACAGGGTTTTCTGAAAAG -3'
(R):5'- GTGAGGCCCTGCTCATCTAC -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation