Incidental Mutation 'R6865:Uckl1'
ID |
535850 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uckl1
|
Ensembl Gene |
ENSMUSG00000089917 |
Gene Name |
uridine-cytidine kinase 1-like 1 |
Synonyms |
Urkl1, 1110007H10Rik |
MMRRC Submission |
045027-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R6865 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 181216286 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Serine
at position 138
(N138S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114821
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
AlphaFold |
Q91YL3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000057816
AA Change: N153S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000050398 Gene: ENSMUSG00000089917 AA Change: N153S
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 damaging
Transcript: ENSMUST00000129469
AA Change: N153S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000121607 Gene: ENSMUSG00000089917 AA Change: N153S
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 damaging
Transcript: ENSMUST00000136875
AA Change: N138S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114821 Gene: ENSMUSG00000089917 AA Change: N138S
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 |
|
SMART Domains |
Protein: ENSMUSP00000114982 Gene: ENSMUSG00000089917 AA Change: N137S
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: 99.4%
- 20x: 98.1%
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1c12 |
T |
A |
13: 4,320,212 (GRCm39) |
M293L |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,621,683 (GRCm39) |
D723G |
probably benign |
Het |
Ankrd26 |
T |
C |
6: 118,500,442 (GRCm39) |
R1010G |
possibly damaging |
Het |
Apob |
G |
A |
12: 8,058,847 (GRCm39) |
R2410H |
probably benign |
Het |
Auh |
T |
C |
13: 52,992,165 (GRCm39) |
D275G |
probably damaging |
Het |
Card10 |
G |
T |
15: 78,686,822 (GRCm39) |
D47E |
possibly damaging |
Het |
Ccdc141 |
C |
T |
2: 76,859,579 (GRCm39) |
|
probably null |
Het |
Cfap206 |
T |
C |
4: 34,714,448 (GRCm39) |
Y416C |
possibly damaging |
Het |
Chuk |
A |
T |
19: 44,075,354 (GRCm39) |
Y500* |
probably null |
Het |
Cop1 |
T |
A |
1: 159,136,524 (GRCm39) |
D536E |
probably damaging |
Het |
Crh |
G |
C |
3: 19,748,304 (GRCm39) |
P113A |
possibly damaging |
Het |
Ddx54 |
T |
G |
5: 120,759,892 (GRCm39) |
|
probably null |
Het |
Efcab7 |
T |
C |
4: 99,769,793 (GRCm39) |
S127P |
probably damaging |
Het |
Efhc1 |
A |
G |
1: 21,030,442 (GRCm39) |
Y125C |
probably damaging |
Het |
Fga |
T |
A |
3: 82,938,848 (GRCm39) |
C408S |
probably damaging |
Het |
Flot2 |
T |
C |
11: 77,940,318 (GRCm39) |
S22P |
probably benign |
Het |
Fndc1 |
T |
A |
17: 7,991,672 (GRCm39) |
T675S |
unknown |
Het |
Foxc1 |
A |
G |
13: 31,992,836 (GRCm39) |
D549G |
unknown |
Het |
Gldc |
T |
C |
19: 30,111,162 (GRCm39) |
N538S |
possibly damaging |
Het |
Grk4 |
T |
G |
5: 34,888,894 (GRCm39) |
V346G |
probably damaging |
Het |
Gucy2c |
T |
C |
6: 136,747,127 (GRCm39) |
R111G |
probably benign |
Het |
Heatr6 |
C |
T |
11: 83,659,966 (GRCm39) |
H504Y |
probably damaging |
Het |
Lrp5 |
A |
T |
19: 3,670,013 (GRCm39) |
|
probably null |
Het |
Msrb1 |
T |
C |
17: 24,955,685 (GRCm39) |
S2P |
possibly damaging |
Het |
Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
Myo3a |
A |
G |
2: 22,464,313 (GRCm39) |
I185V |
probably benign |
Het |
Myo5c |
T |
C |
9: 75,176,878 (GRCm39) |
S608P |
probably benign |
Het |
Nek6 |
A |
G |
2: 38,459,678 (GRCm39) |
I174V |
probably benign |
Het |
Nmt2 |
T |
C |
2: 3,315,766 (GRCm39) |
V252A |
probably damaging |
Het |
Nudt9 |
G |
T |
5: 104,207,545 (GRCm39) |
R179M |
probably damaging |
Het |
Nwd1 |
T |
C |
8: 73,383,690 (GRCm39) |
V29A |
possibly damaging |
Het |
Olah |
T |
C |
2: 3,343,964 (GRCm39) |
D216G |
possibly damaging |
Het |
Or13c7b |
T |
C |
4: 43,821,346 (GRCm39) |
N5S |
probably benign |
Het |
Or52n2 |
T |
C |
7: 104,542,719 (GRCm39) |
I39V |
probably benign |
Het |
Parp12 |
T |
C |
6: 39,088,670 (GRCm39) |
I189V |
probably benign |
Het |
Pkd1 |
T |
C |
17: 24,795,461 (GRCm39) |
V2318A |
probably benign |
Het |
Pknox1 |
T |
A |
17: 31,807,534 (GRCm39) |
M51K |
probably damaging |
Het |
Ppp1r12a |
C |
T |
10: 108,098,242 (GRCm39) |
R321* |
probably null |
Het |
Pxdn |
A |
G |
12: 30,064,582 (GRCm39) |
|
probably null |
Het |
Rab44 |
A |
T |
17: 29,358,201 (GRCm39) |
I130F |
probably benign |
Het |
Rnf130 |
T |
C |
11: 49,962,091 (GRCm39) |
I179T |
probably damaging |
Het |
Slc22a28 |
A |
T |
19: 8,041,856 (GRCm39) |
C450* |
probably null |
Het |
Slco1c1 |
A |
T |
6: 141,485,778 (GRCm39) |
Y136F |
probably damaging |
Het |
Synj2 |
C |
T |
17: 6,067,844 (GRCm39) |
Q106* |
probably null |
Het |
Usp19 |
G |
T |
9: 108,376,018 (GRCm39) |
E203* |
probably null |
Het |
Vdr |
A |
G |
15: 97,755,386 (GRCm39) |
I379T |
probably damaging |
Het |
Zfp503 |
C |
A |
14: 22,036,101 (GRCm39) |
G272C |
probably damaging |
Het |
Zfyve9 |
T |
C |
4: 108,501,558 (GRCm39) |
N1218S |
possibly damaging |
Het |
Zzz3 |
T |
A |
3: 152,133,690 (GRCm39) |
D249E |
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 |
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'- GTTTTCTGAAAAGGAACCCAGAG -3'
(R):5'- TGGTCCTGTTGTCCATGGAC -3'
Sequencing Primer
(F):5'- CCCAGAGAGTTTTAATGTCCAGC -3'
(R):5'- GTCCATGGACTCCTTCTATAAGG -3'
|
Posted On |
2018-10-18 |