Incidental Mutation 'R1723:Uckl1'
ID |
191597 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uckl1
|
Ensembl Gene |
ENSMUSG00000089917 |
Gene Name |
uridine-cytidine kinase 1-like 1 |
Synonyms |
Urkl1, 1110007H10Rik |
MMRRC Submission |
039755-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1723 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
Type of Mutation |
critical splice acceptor site |
DNA Base Change (assembly) |
T to A
at 181212393 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000050398
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000057816]
[ENSMUST00000057816]
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000129469]
[ENSMUST00000129469]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
[ENSMUST00000154613]
[ENSMUST00000154613]
[ENSMUST00000154613]
|
AlphaFold |
Q91YL3 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
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 |
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: 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: 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 |
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: ENSMUST00000154613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146823
|
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 |
|
Meta Mutation Damage Score |
0.9755 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.1%
|
Validation Efficiency |
100% (62/62) |
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: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alms1 |
G |
T |
6: 85,605,735 (GRCm39) |
G2462C |
probably damaging |
Het |
Anapc5 |
T |
C |
5: 122,937,406 (GRCm39) |
E464G |
probably damaging |
Het |
Aoc3 |
T |
A |
11: 101,227,261 (GRCm39) |
V378E |
possibly damaging |
Het |
Atp13a5 |
T |
A |
16: 29,051,551 (GRCm39) |
K1152I |
possibly damaging |
Het |
Auh |
G |
A |
13: 52,989,532 (GRCm39) |
P308L |
probably benign |
Het |
Calcoco1 |
C |
A |
15: 102,627,988 (GRCm39) |
G49C |
probably damaging |
Het |
Cd70 |
T |
C |
17: 57,453,401 (GRCm39) |
T88A |
possibly damaging |
Het |
Cpeb1 |
C |
T |
7: 81,085,974 (GRCm39) |
R56Q |
probably benign |
Het |
Dglucy |
A |
G |
12: 100,808,938 (GRCm39) |
Y212C |
probably damaging |
Het |
Dnhd1 |
C |
A |
7: 105,364,127 (GRCm39) |
P4160T |
possibly damaging |
Het |
Ecel1 |
T |
C |
1: 87,082,143 (GRCm39) |
D190G |
probably benign |
Het |
Exoc6b |
A |
G |
6: 85,046,326 (GRCm39) |
L21P |
probably damaging |
Het |
Fam110c |
A |
G |
12: 31,124,394 (GRCm39) |
R119G |
unknown |
Het |
Gask1b |
T |
A |
3: 79,843,970 (GRCm39) |
N32K |
probably benign |
Het |
Gm42791 |
C |
A |
5: 148,896,311 (GRCm39) |
|
probably benign |
Het |
Hpcal4 |
A |
G |
4: 123,084,532 (GRCm39) |
I154V |
probably benign |
Het |
Itgb1 |
A |
G |
8: 129,452,519 (GRCm39) |
D728G |
probably damaging |
Het |
Kdm5d |
A |
T |
Y: 927,753 (GRCm39) |
D701V |
probably damaging |
Het |
Kif18a |
A |
G |
2: 109,133,227 (GRCm39) |
K448E |
probably damaging |
Het |
Kif26a |
T |
C |
12: 112,140,292 (GRCm39) |
F507S |
possibly damaging |
Het |
Kmt2c |
C |
T |
5: 25,520,003 (GRCm39) |
G2036R |
probably damaging |
Het |
Lrrc43 |
T |
A |
5: 123,630,276 (GRCm39) |
|
probably benign |
Het |
Map3k20 |
T |
C |
2: 72,219,836 (GRCm39) |
I256T |
probably damaging |
Het |
Med29 |
T |
A |
7: 28,092,130 (GRCm39) |
|
probably benign |
Het |
Mob3b |
A |
G |
4: 34,954,026 (GRCm39) |
C215R |
probably damaging |
Het |
Mtf2 |
T |
C |
5: 108,235,936 (GRCm39) |
Y87H |
probably damaging |
Het |
Myo18a |
G |
A |
11: 77,744,140 (GRCm39) |
R1834K |
probably damaging |
Het |
Nlrc4 |
T |
A |
17: 74,748,903 (GRCm39) |
D779V |
probably damaging |
Het |
Or51q1c |
T |
C |
7: 103,652,518 (GRCm39) |
F18S |
probably damaging |
Het |
Otud3 |
T |
C |
4: 138,625,329 (GRCm39) |
T242A |
probably damaging |
Het |
Pcare |
A |
T |
17: 72,057,373 (GRCm39) |
F768Y |
probably damaging |
Het |
Pnliprp1 |
T |
A |
19: 58,720,574 (GRCm39) |
M150K |
possibly damaging |
Het |
Polm |
T |
A |
11: 5,784,776 (GRCm39) |
Q227L |
probably benign |
Het |
Poln |
A |
G |
5: 34,280,016 (GRCm39) |
V282A |
probably benign |
Het |
Ppfia2 |
T |
A |
10: 106,751,533 (GRCm39) |
|
probably null |
Het |
Rad51 |
T |
G |
2: 118,954,295 (GRCm39) |
M168R |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,846,792 (GRCm39) |
T266A |
probably benign |
Het |
Sfswap |
A |
G |
5: 129,616,758 (GRCm39) |
T401A |
probably benign |
Het |
Slc35a4 |
C |
A |
18: 36,815,788 (GRCm39) |
T206K |
possibly damaging |
Het |
Slc40a1 |
A |
G |
1: 45,963,921 (GRCm39) |
S23P |
probably damaging |
Het |
Spef2 |
T |
C |
15: 9,614,295 (GRCm39) |
K1217R |
probably damaging |
Het |
St18 |
A |
C |
1: 6,880,909 (GRCm39) |
|
probably benign |
Het |
Tdrd6 |
T |
C |
17: 43,939,218 (GRCm39) |
D610G |
possibly damaging |
Het |
Tmem163 |
C |
A |
1: 127,479,108 (GRCm39) |
R137L |
probably damaging |
Het |
Tmem94 |
T |
A |
11: 115,685,574 (GRCm39) |
D942E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,580,754 (GRCm39) |
I23380F |
possibly damaging |
Het |
Vav2 |
T |
C |
2: 27,208,976 (GRCm39) |
D99G |
possibly damaging |
Het |
Vmn2r30 |
T |
A |
7: 7,337,259 (GRCm39) |
I126F |
probably benign |
Het |
Zbtb41 |
A |
T |
1: 139,351,301 (GRCm39) |
Q138L |
probably benign |
Het |
Zfp599 |
T |
C |
9: 22,169,361 (GRCm39) |
Y37C |
probably damaging |
Het |
Zfp784 |
T |
A |
7: 5,038,782 (GRCm39) |
T259S |
possibly damaging |
Het |
Zfp954 |
T |
C |
7: 7,118,837 (GRCm39) |
S236G |
probably benign |
Het |
Zng1 |
A |
G |
19: 24,925,458 (GRCm39) |
V166A |
possibly damaging |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGTTCAATAAGCAGCCGCATCAGTC -3'
(R):5'- TCAGTCACATTTCAGGTGCCAAGG -3'
Sequencing Primer
(F):5'- TCCCTGGTGGTAGAACAAGC -3'
(R):5'- CAAGGCATCTTTCATGGGTCAG -3'
|
Posted On |
2014-05-14 |