Incidental Mutation 'R1435:Uckl1'
| ID |
159427 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| MMRRC Submission |
039490-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.166)
|
| Stock # |
R1435 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 181214926 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 283
(S283R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000057816
AA Change: S283R
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: S283R
| 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
AA Change: S283R
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: S283R
| 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 |
noncoding transcript
Transcript: ENSMUST00000142491
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156998
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146823
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
| 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: 98.7%
- 3x: 97.5%
- 10x: 93.0%
- 20x: 81.3%
|
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acadvl |
T |
G |
11: 69,905,642 (GRCm39) |
T62P |
probably benign |
Het |
| Amz1 |
A |
T |
5: 140,733,921 (GRCm39) |
N166Y |
probably damaging |
Het |
| Anxa6 |
T |
C |
11: 54,882,236 (GRCm39) |
Q518R |
probably benign |
Het |
| Aox3 |
G |
A |
1: 58,202,605 (GRCm39) |
|
probably null |
Het |
| Arid1a |
C |
T |
4: 133,408,009 (GRCm39) |
R2166Q |
unknown |
Het |
| Asb4 |
T |
G |
6: 5,398,410 (GRCm39) |
I125S |
probably benign |
Het |
| Aspscr1 |
T |
C |
11: 120,580,048 (GRCm39) |
S196P |
probably benign |
Het |
| Atxn3 |
A |
G |
12: 101,908,460 (GRCm39) |
F131L |
probably benign |
Het |
| B3gnt5 |
T |
A |
16: 19,587,924 (GRCm39) |
Y48N |
probably damaging |
Het |
| Bglap3 |
A |
G |
3: 88,276,453 (GRCm39) |
M35T |
possibly damaging |
Het |
| Cabp1 |
A |
T |
5: 115,311,267 (GRCm39) |
D79E |
probably damaging |
Het |
| Cemip2 |
A |
T |
19: 21,822,070 (GRCm39) |
Q1155L |
probably benign |
Het |
| Chd2 |
C |
T |
7: 73,102,884 (GRCm39) |
R1367Q |
probably damaging |
Het |
| Clec5a |
T |
A |
6: 40,561,358 (GRCm39) |
Q29L |
probably damaging |
Het |
| Cmtr2 |
T |
C |
8: 110,947,711 (GRCm39) |
L7P |
probably benign |
Het |
| Cnbd1 |
T |
C |
4: 18,907,026 (GRCm39) |
I183V |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,792,341 (GRCm39) |
G1297D |
unknown |
Het |
| Csnk1g3 |
G |
A |
18: 54,039,746 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
A |
T |
4: 115,463,863 (GRCm39) |
N134I |
probably damaging |
Het |
| Cyp4f16 |
CTATG |
CTATGTATG |
17: 32,769,708 (GRCm39) |
|
probably null |
Het |
| Dst |
G |
A |
1: 34,153,026 (GRCm39) |
V56M |
probably damaging |
Het |
| Engase |
A |
T |
11: 118,375,727 (GRCm39) |
T32S |
probably damaging |
Het |
| Fam117b |
T |
C |
1: 60,008,222 (GRCm39) |
I352T |
possibly damaging |
Het |
| Golga4 |
C |
A |
9: 118,364,508 (GRCm39) |
D290E |
probably benign |
Het |
| Gtf2a1l |
C |
A |
17: 89,001,743 (GRCm39) |
H153N |
probably damaging |
Het |
| Hivep1 |
C |
A |
13: 42,311,519 (GRCm39) |
T1253N |
probably damaging |
Het |
| Hps1 |
T |
C |
19: 42,750,714 (GRCm39) |
S398G |
probably benign |
Het |
| Il1r2 |
T |
A |
1: 40,144,459 (GRCm39) |
F49I |
probably damaging |
Het |
| Iqsec1 |
A |
G |
6: 90,649,006 (GRCm39) |
S808P |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,922,776 (GRCm39) |
L289P |
probably damaging |
Het |
| Magi2 |
T |
A |
5: 20,563,943 (GRCm39) |
D358E |
probably damaging |
Het |
| Man2b2 |
A |
G |
5: 36,970,411 (GRCm39) |
W832R |
probably damaging |
Het |
| Mfsd4a |
G |
T |
1: 131,995,494 (GRCm39) |
T46K |
probably damaging |
Het |
| N4bp3 |
G |
A |
11: 51,535,167 (GRCm39) |
R341W |
probably damaging |
Het |
| Odad2 |
T |
A |
18: 7,222,646 (GRCm39) |
H541L |
probably benign |
Het |
| Or51f2 |
T |
C |
7: 102,526,974 (GRCm39) |
S216P |
probably damaging |
Het |
| Or8s5 |
A |
T |
15: 98,238,209 (GRCm39) |
H220Q |
possibly damaging |
Het |
| Otof |
A |
G |
5: 30,536,039 (GRCm39) |
L1353S |
probably benign |
Het |
| Pcsk5 |
A |
T |
19: 17,541,246 (GRCm39) |
C844* |
probably null |
Het |
| Pdk2 |
T |
C |
11: 94,922,721 (GRCm39) |
Y153C |
probably damaging |
Het |
| Pes1 |
T |
C |
11: 3,926,075 (GRCm39) |
V292A |
probably benign |
Het |
| Pex14 |
T |
C |
4: 149,047,984 (GRCm39) |
T198A |
probably benign |
Het |
| Phactr4 |
G |
A |
4: 132,104,559 (GRCm39) |
T256I |
probably benign |
Het |
| Pnpla2 |
G |
A |
7: 141,037,324 (GRCm39) |
R109H |
probably benign |
Het |
| Polh |
G |
A |
17: 46,505,181 (GRCm39) |
T145I |
probably damaging |
Het |
| Polr3d |
A |
T |
14: 70,677,479 (GRCm39) |
V299E |
probably benign |
Het |
| Polr3e |
C |
T |
7: 120,540,011 (GRCm39) |
T586M |
probably benign |
Het |
| Rbm20 |
T |
A |
19: 53,802,588 (GRCm39) |
F365L |
probably benign |
Het |
| Resf1 |
A |
G |
6: 149,227,580 (GRCm39) |
T209A |
probably benign |
Het |
| Rnf213 |
G |
T |
11: 119,326,831 (GRCm39) |
C1606F |
probably damaging |
Het |
| Sipa1l2 |
A |
G |
8: 126,195,464 (GRCm39) |
V758A |
probably damaging |
Het |
| Slc22a16 |
T |
A |
10: 40,463,603 (GRCm39) |
M451K |
probably damaging |
Het |
| Slc28a1 |
T |
C |
7: 80,803,265 (GRCm39) |
S359P |
probably damaging |
Het |
| Slc45a1 |
G |
T |
4: 150,728,505 (GRCm39) |
F99L |
probably damaging |
Het |
| Sp3 |
A |
T |
2: 72,768,500 (GRCm39) |
N754K |
possibly damaging |
Het |
| Taf4b |
A |
T |
18: 14,940,466 (GRCm39) |
Q315L |
probably damaging |
Het |
| Tcstv2a |
T |
A |
13: 120,725,524 (GRCm39) |
W63R |
probably damaging |
Het |
| Tmprss15 |
A |
T |
16: 78,818,342 (GRCm39) |
N544K |
probably benign |
Het |
| Tnfsf13b |
A |
G |
8: 10,085,358 (GRCm39) |
I283V |
probably benign |
Het |
| Tnfsf14 |
T |
A |
17: 57,497,605 (GRCm39) |
E209V |
possibly damaging |
Het |
| Ush1g |
T |
C |
11: 115,209,294 (GRCm39) |
D300G |
probably damaging |
Het |
| Virma |
C |
T |
4: 11,528,621 (GRCm39) |
A1286V |
probably damaging |
Het |
| Vmn2r114 |
ATTT |
ATT |
17: 23,509,906 (GRCm39) |
|
probably null |
Het |
| Vmn2r59 |
A |
T |
7: 41,695,629 (GRCm39) |
M261K |
possibly damaging |
Het |
| Vwf |
A |
T |
6: 125,619,212 (GRCm39) |
K1297* |
probably null |
Het |
| Zdbf2 |
G |
A |
1: 63,342,199 (GRCm39) |
E193K |
possibly damaging |
Het |
| Zfp759 |
T |
G |
13: 67,286,830 (GRCm39) |
I127S |
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 |
|
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'- AGGAGTGTAGCCTTCCAAGCATGG -3'
(R):5'- TGGACACGGACTCTGATATCCGAC -3'
Sequencing Primer
(F):5'- TTCCAAGCATGGCCGAGTC -3'
(R):5'- GACTCTGATATCCGACTGGTTCG -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation