Incidental Mutation 'R1355:Uckl1'
ID |
156263 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Uckl1
|
Ensembl Gene |
ENSMUSG00000089917 |
Gene Name |
uridine-cytidine kinase 1-like 1 |
Synonyms |
Urkl1, 1110007H10Rik |
MMRRC Submission |
039420-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.166)
|
Stock # |
R1355 (G1)
|
Quality Score |
197 |
Status
|
Validated
|
Chromosome |
2 |
Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 181215169 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 213
(T213K)
|
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: T228K
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000050398 Gene: ENSMUSG00000089917 AA Change: T228K
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 damaging
Transcript: ENSMUST00000129469
AA Change: T228K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000121607 Gene: ENSMUSG00000089917 AA Change: T228K
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: T213K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000114821 Gene: ENSMUSG00000089917 AA Change: T213K
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 |
unknown
Transcript: ENSMUST00000144856
AA Change: T212K
|
SMART Domains |
Protein: ENSMUSP00000114982 Gene: ENSMUSG00000089917 AA Change: T212K
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: ENSMUST00000155182
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142491
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146823
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
Meta Mutation Damage Score |
0.9443 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.8%
- 20x: 91.4%
|
Validation Efficiency |
100% (57/57) |
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ankrd52 |
A |
G |
10: 128,224,565 (GRCm39) |
D781G |
possibly damaging |
Het |
Arhgef5 |
T |
A |
6: 43,260,846 (GRCm39) |
F1424I |
probably damaging |
Het |
Atp10b |
G |
A |
11: 43,042,482 (GRCm39) |
W14* |
probably null |
Het |
B4galnt4 |
T |
C |
7: 140,645,308 (GRCm39) |
V259A |
probably damaging |
Het |
Ccdc141 |
A |
T |
2: 76,860,945 (GRCm39) |
I944N |
probably damaging |
Het |
Ccdc146 |
A |
T |
5: 21,526,240 (GRCm39) |
D224E |
probably damaging |
Het |
Ccne1 |
A |
G |
7: 37,805,747 (GRCm39) |
I43T |
possibly damaging |
Het |
Cd226 |
T |
A |
18: 89,265,147 (GRCm39) |
S29T |
probably benign |
Het |
Cebpz |
G |
T |
17: 79,242,753 (GRCm39) |
D300E |
probably benign |
Het |
Cryzl1 |
A |
G |
16: 91,489,546 (GRCm39) |
V266A |
possibly damaging |
Het |
Cyp2c68 |
A |
G |
19: 39,729,400 (GRCm39) |
L29P |
probably damaging |
Het |
Dennd3 |
A |
C |
15: 73,412,703 (GRCm39) |
|
probably benign |
Het |
Dpy19l4 |
C |
T |
4: 11,303,371 (GRCm39) |
W183* |
probably null |
Het |
Eml6 |
T |
G |
11: 29,783,085 (GRCm39) |
S599R |
probably benign |
Het |
Erc1 |
A |
T |
6: 119,720,381 (GRCm39) |
L440* |
probably null |
Het |
Frem3 |
A |
G |
8: 81,417,331 (GRCm39) |
Y2012C |
probably damaging |
Het |
Garin5a |
A |
G |
7: 44,146,115 (GRCm39) |
K2E |
possibly damaging |
Het |
Gm10288 |
A |
T |
3: 146,544,748 (GRCm39) |
|
noncoding transcript |
Het |
Gm1110 |
T |
A |
9: 26,795,057 (GRCm39) |
K476N |
probably benign |
Het |
Gm11937 |
A |
T |
11: 99,500,733 (GRCm39) |
S95T |
possibly damaging |
Het |
H2bc13 |
T |
A |
13: 21,900,027 (GRCm39) |
Q96L |
probably damaging |
Het |
Hs6st1 |
T |
A |
1: 36,142,657 (GRCm39) |
H197Q |
probably damaging |
Het |
Ism1 |
A |
T |
2: 139,573,994 (GRCm39) |
I115F |
possibly damaging |
Het |
Itgb8 |
C |
T |
12: 119,134,738 (GRCm39) |
G443E |
probably benign |
Het |
Kalrn |
T |
A |
16: 33,795,954 (GRCm39) |
I1274F |
possibly damaging |
Het |
Lrrcc1 |
G |
T |
3: 14,613,174 (GRCm39) |
V299L |
probably benign |
Het |
Mettl5 |
A |
T |
2: 69,711,764 (GRCm39) |
|
probably null |
Het |
Mtcl3 |
A |
T |
10: 29,023,318 (GRCm39) |
T222S |
probably benign |
Het |
Nlrp2 |
G |
T |
7: 5,330,490 (GRCm39) |
N635K |
possibly damaging |
Het |
Or4c3d |
G |
A |
2: 89,881,957 (GRCm39) |
T237I |
probably benign |
Het |
Or5ac16 |
A |
G |
16: 59,022,043 (GRCm39) |
S249P |
probably damaging |
Het |
Or5b112 |
T |
A |
19: 13,319,882 (GRCm39) |
Y253* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Plxna1 |
A |
G |
6: 89,297,748 (GRCm39) |
|
probably benign |
Het |
Ppp4r1 |
A |
T |
17: 66,147,982 (GRCm39) |
E924D |
probably benign |
Het |
Prdm2 |
C |
T |
4: 142,858,533 (GRCm39) |
V1586I |
probably benign |
Het |
Pros1 |
A |
G |
16: 62,739,921 (GRCm39) |
K457E |
probably benign |
Het |
Rer1 |
T |
A |
4: 155,160,081 (GRCm39) |
M156L |
probably benign |
Het |
Rgs16 |
A |
T |
1: 153,619,414 (GRCm39) |
K140M |
probably damaging |
Het |
Rgsl1 |
A |
G |
1: 153,683,507 (GRCm39) |
M1T |
probably null |
Het |
Setdb2 |
T |
A |
14: 59,654,890 (GRCm39) |
K333N |
probably damaging |
Het |
Sgo2a |
A |
G |
1: 58,057,124 (GRCm39) |
T1103A |
possibly damaging |
Het |
Sik3 |
C |
T |
9: 46,107,170 (GRCm39) |
|
probably benign |
Het |
Slc44a3 |
C |
A |
3: 121,325,320 (GRCm39) |
G47V |
probably damaging |
Het |
Snrpd1 |
G |
A |
18: 10,627,818 (GRCm39) |
G103D |
probably benign |
Het |
Sspo |
T |
A |
6: 48,425,560 (GRCm39) |
S60R |
probably benign |
Het |
Susd1 |
C |
T |
4: 59,424,114 (GRCm39) |
C37Y |
possibly damaging |
Het |
Tiam1 |
A |
T |
16: 89,695,109 (GRCm39) |
I116N |
probably benign |
Het |
Ttc3 |
A |
G |
16: 94,219,496 (GRCm39) |
S492G |
possibly damaging |
Het |
Usp38 |
T |
C |
8: 81,711,662 (GRCm39) |
E791G |
possibly damaging |
Het |
Vps13b |
C |
T |
15: 35,422,600 (GRCm39) |
R187C |
probably damaging |
Het |
Vwa3a |
A |
G |
7: 120,383,334 (GRCm39) |
Y645C |
probably damaging |
Het |
Wasf3 |
T |
C |
5: 146,407,018 (GRCm39) |
|
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCTGGCTAACTAACCTCTTCCAGC -3'
(R):5'- TTGTGCCCCTGACTAGTAGTAGTCC -3'
Sequencing Primer
(F):5'- CAATCAGGTCAATGGCTACTGTG -3'
(R):5'- TAAACCAATGGATGCCTTGTGG -3'
|
Posted On |
2014-02-11 |