Incidental Mutation 'R8341:Uckl1'
| ID |
644877 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| MMRRC Submission |
067865-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R8341 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 181211512 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 463
(M463L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000050398
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057816
AA Change: M463L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: M463L
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917
AA Change: M117L
| 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
|
| Meta Mutation Damage Score |
0.0682 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
98% (57/58) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,845,876 (GRCm39) |
I915F |
probably damaging |
Het |
| Adam11 |
C |
A |
11: 102,667,362 (GRCm39) |
H641N |
probably damaging |
Het |
| Amfr |
A |
G |
8: 94,725,806 (GRCm39) |
S192P |
probably damaging |
Het |
| Ano9 |
T |
A |
7: 140,682,247 (GRCm39) |
N676I |
possibly damaging |
Het |
| Arfgef1 |
C |
T |
1: 10,224,553 (GRCm39) |
V1428I |
probably benign |
Het |
| B3gnt9 |
C |
T |
8: 105,980,497 (GRCm39) |
R297H |
probably benign |
Het |
| Bace2 |
C |
T |
16: 97,158,108 (GRCm39) |
A36V |
possibly damaging |
Het |
| C1s1 |
C |
T |
6: 124,508,115 (GRCm39) |
A625T |
probably damaging |
Het |
| Camkmt |
T |
C |
17: 85,747,008 (GRCm39) |
L251P |
probably damaging |
Het |
| Ceacam15 |
C |
A |
7: 16,405,928 (GRCm39) |
V208F |
probably benign |
Het |
| Clp1 |
T |
C |
2: 84,554,117 (GRCm39) |
K351E |
probably damaging |
Het |
| Csmd3 |
T |
C |
15: 47,561,547 (GRCm39) |
Y1343C |
|
Het |
| Cubn |
C |
A |
2: 13,433,535 (GRCm39) |
G1125V |
probably damaging |
Het |
| Dpp4 |
C |
T |
2: 62,178,234 (GRCm39) |
V633I |
probably benign |
Het |
| Eif2ak1 |
A |
T |
5: 143,821,755 (GRCm39) |
D357V |
probably benign |
Het |
| Fez1 |
T |
C |
9: 36,787,605 (GRCm39) |
M370T |
possibly damaging |
Het |
| Frk |
G |
A |
10: 34,462,279 (GRCm39) |
E257K |
probably damaging |
Het |
| Gm7579 |
T |
A |
7: 141,765,856 (GRCm39) |
C87* |
probably null |
Het |
| Henmt1 |
T |
C |
3: 108,865,908 (GRCm39) |
V211A |
probably damaging |
Het |
| Hspg2 |
C |
G |
4: 137,246,290 (GRCm39) |
P1023A |
possibly damaging |
Het |
| Ints9 |
T |
A |
14: 65,273,863 (GRCm39) |
V556E |
probably benign |
Het |
| Itprid2 |
A |
T |
2: 79,488,062 (GRCm39) |
K715I |
probably damaging |
Het |
| Klhl41 |
T |
C |
2: 69,500,868 (GRCm39) |
S110P |
probably benign |
Het |
| Klrk1 |
T |
C |
6: 129,599,663 (GRCm39) |
|
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,704,451 (GRCm39) |
S1215C |
probably damaging |
Het |
| Lyn |
T |
C |
4: 3,743,304 (GRCm39) |
|
probably null |
Het |
| Map2k5 |
T |
A |
9: 63,246,380 (GRCm39) |
N116Y |
probably damaging |
Het |
| Map3k13 |
G |
T |
16: 21,740,334 (GRCm39) |
E554* |
probably null |
Het |
| Map6 |
A |
G |
7: 98,917,647 (GRCm39) |
E140G |
possibly damaging |
Het |
| Mpv17 |
A |
C |
5: 31,311,447 (GRCm39) |
|
probably null |
Het |
| Myo1c |
C |
T |
11: 75,562,253 (GRCm39) |
P883S |
probably benign |
Het |
| Myo7b |
T |
C |
18: 32,116,979 (GRCm39) |
M914V |
probably benign |
Het |
| Olfm2 |
C |
T |
9: 20,583,918 (GRCm39) |
|
probably null |
Het |
| Or2b4 |
G |
A |
17: 38,116,543 (GRCm39) |
C169Y |
probably damaging |
Het |
| Osbpl7 |
T |
G |
11: 96,950,989 (GRCm39) |
L612R |
probably damaging |
Het |
| Polq |
A |
T |
16: 36,892,133 (GRCm39) |
M2012L |
possibly damaging |
Het |
| Ppp1r7 |
G |
A |
1: 93,274,000 (GRCm39) |
D59N |
probably benign |
Het |
| Ppp4r3c2 |
A |
T |
X: 88,798,322 (GRCm39) |
K718M |
probably damaging |
Het |
| Ptbp1 |
A |
C |
10: 79,699,045 (GRCm39) |
E534D |
probably benign |
Het |
| Qser1 |
A |
G |
2: 104,619,820 (GRCm39) |
Y241H |
probably damaging |
Het |
| Rbx1 |
T |
C |
15: 81,358,078 (GRCm39) |
L88P |
probably damaging |
Het |
| Rft1 |
T |
C |
14: 30,411,838 (GRCm39) |
L462P |
probably damaging |
Het |
| Serpinb9f |
T |
A |
13: 33,511,290 (GRCm39) |
L77* |
probably null |
Het |
| Shisa9 |
T |
C |
16: 11,815,015 (GRCm39) |
M221T |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,012,281 (GRCm39) |
F135V |
possibly damaging |
Het |
| Slc23a1 |
C |
T |
18: 35,755,588 (GRCm39) |
G436E |
probably damaging |
Het |
| Slc44a2 |
T |
C |
9: 21,253,495 (GRCm39) |
F88L |
probably benign |
Het |
| Snx21 |
A |
G |
2: 164,633,805 (GRCm39) |
E197G |
probably damaging |
Het |
| Srarp |
T |
C |
4: 141,160,707 (GRCm39) |
D42G |
possibly damaging |
Het |
| St6galnac1 |
T |
A |
11: 116,659,714 (GRCm39) |
M200L |
probably benign |
Het |
| Stambpl1 |
A |
T |
19: 34,211,401 (GRCm39) |
Q154L |
probably benign |
Het |
| Szt2 |
G |
T |
4: 118,250,033 (GRCm39) |
R492S |
possibly damaging |
Het |
| Thbs3 |
G |
A |
3: 89,132,698 (GRCm39) |
R880Q |
probably benign |
Het |
| Tnks |
A |
T |
8: 35,340,199 (GRCm39) |
L473H |
probably damaging |
Het |
| Ttc4 |
A |
G |
4: 106,522,893 (GRCm39) |
S342P |
probably benign |
Het |
| Unc80 |
T |
C |
1: 66,688,192 (GRCm39) |
S2397P |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,507,128 (GRCm39) |
H728L |
probably benign |
Het |
| Vsig10l |
T |
C |
7: 43,113,378 (GRCm39) |
V110A |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,354,564 (GRCm39) |
L61* |
probably null |
Het |
| Zswim5 |
A |
G |
4: 116,843,989 (GRCm39) |
Y1009C |
probably 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 |
|
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 |
|
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'- CGGAAAAGGTCATTGACACGC -3'
(R):5'- GGGGTTCACAGTAATGACCAAC -3'
Sequencing Primer
(F):5'- CACAGCTGTGGTGATGATTCTCAC -3'
(R):5'- TTCACAGTAATGACCAACATGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation