Incidental Mutation 'R8980:Uckl1'
| ID |
706145 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| MMRRC Submission |
068813-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8980 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to A
at 181216157 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120302
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057816
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
| 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 |
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 |
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 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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
100% (37/37) |
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc1 |
G |
C |
16: 14,278,961 (GRCm39) |
M1090I |
probably damaging |
Het |
| Ak7 |
T |
A |
12: 105,747,158 (GRCm39) |
V675E |
probably benign |
Het |
| Ano10 |
T |
A |
9: 122,090,558 (GRCm39) |
I252L |
probably benign |
Het |
| Ano6 |
A |
G |
15: 95,865,563 (GRCm39) |
Y828C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,873 (GRCm39) |
S40R |
probably damaging |
Het |
| Bcl2l11 |
T |
A |
2: 128,000,200 (GRCm39) |
I181N |
possibly damaging |
Het |
| Cdh23 |
T |
C |
10: 60,173,625 (GRCm39) |
Y1621C |
probably benign |
Het |
| Cep68 |
A |
T |
11: 20,190,390 (GRCm39) |
N207K |
probably benign |
Het |
| Clock |
T |
C |
5: 76,402,286 (GRCm39) |
I125V |
probably benign |
Het |
| Efcab8 |
G |
C |
2: 153,646,861 (GRCm39) |
V397L |
unknown |
Het |
| Ephb6 |
C |
T |
6: 41,590,293 (GRCm39) |
A15V |
probably benign |
Het |
| Eps15l1 |
A |
T |
8: 73,127,734 (GRCm39) |
H614Q |
probably benign |
Het |
| Gm29106 |
G |
A |
1: 118,127,114 (GRCm39) |
G269R |
possibly damaging |
Het |
| Hexb |
A |
G |
13: 97,330,689 (GRCm39) |
V108A |
probably damaging |
Het |
| Ibtk |
G |
T |
9: 85,614,783 (GRCm39) |
C185* |
probably null |
Het |
| Josd2 |
A |
G |
7: 44,117,702 (GRCm39) |
|
probably benign |
Het |
| Krt76 |
C |
T |
15: 101,800,990 (GRCm39) |
G102D |
unknown |
Het |
| Nrap |
T |
A |
19: 56,343,970 (GRCm39) |
S645C |
probably damaging |
Het |
| Or7g12 |
A |
G |
9: 18,899,423 (GRCm39) |
I46M |
probably damaging |
Het |
| Pramel38 |
T |
C |
5: 94,366,035 (GRCm39) |
L51P |
probably damaging |
Het |
| Prl2c5 |
T |
A |
13: 13,360,470 (GRCm39) |
F46I |
probably benign |
Het |
| Prss16 |
C |
T |
13: 22,187,212 (GRCm39) |
V453I |
probably benign |
Het |
| Psd |
A |
G |
19: 46,310,657 (GRCm39) |
L464P |
possibly damaging |
Het |
| Ptprb |
T |
C |
10: 116,119,526 (GRCm39) |
L220P |
probably benign |
Het |
| Rab7 |
A |
T |
6: 87,977,502 (GRCm39) |
V180E |
probably benign |
Het |
| Rc3h1 |
A |
G |
1: 160,782,595 (GRCm39) |
I691M |
probably benign |
Het |
| Rnf150 |
A |
G |
8: 83,717,087 (GRCm39) |
N198S |
probably benign |
Het |
| Sema4g |
A |
T |
19: 44,981,583 (GRCm39) |
M100L |
probably benign |
Het |
| Slc25a21 |
A |
G |
12: 56,816,949 (GRCm39) |
S106P |
probably benign |
Het |
| Slc27a5 |
C |
A |
7: 12,725,090 (GRCm39) |
R452S |
probably benign |
Het |
| St8sia5 |
A |
G |
18: 77,333,761 (GRCm39) |
|
probably null |
Het |
| Themis3 |
A |
T |
17: 66,862,536 (GRCm39) |
I474N |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,144 (GRCm39) |
V244A |
probably damaging |
Het |
| Vmn2r1 |
T |
A |
3: 64,010,501 (GRCm39) |
Y580N |
|
Het |
| Zfp1006 |
G |
A |
8: 129,945,680 (GRCm39) |
P382S |
probably damaging |
Het |
| Zfp11 |
T |
A |
5: 129,737,843 (GRCm39) |
M1L |
probably benign |
Het |
| Zfp462 |
TACCACCACCACCACCACCACCA |
TACCACCACCACCACCACCA |
4: 55,009,681 (GRCm39) |
|
probably benign |
Het |
| Zfp521 |
C |
A |
18: 13,979,137 (GRCm39) |
L425F |
probably damaging |
Het |
| Zfp827 |
T |
C |
8: 79,803,092 (GRCm39) |
S555P |
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 |
|
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 |
|
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'- GGGCGGCGTATTACTAAGAG -3'
(R):5'- AAATGTAGGCCTGTGGTCAGC -3'
Sequencing Primer
(F):5'- CTAAGAGAGTATTTATGGGGATGCC -3'
(R):5'- AGCAGGCTTCATCATGCC -3'
|
| Posted On |
2022-03-30 |
Incidental Mutation