Incidental Mutation 'R5751:Uckl1'
| ID |
446001 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uckl1
|
| Ensembl Gene |
ENSMUSG00000089917 |
| Gene Name |
uridine-cytidine kinase 1-like 1 |
| Synonyms |
Urkl1, 1110007H10Rik |
| MMRRC Submission |
043201-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.167)
|
| Stock # |
R5751 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
181210942-181223820 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 181216245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 167
(S167P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121607
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000057816]
[ENSMUST00000129469]
[ENSMUST00000131949]
[ENSMUST00000136875]
[ENSMUST00000154613]
|
| AlphaFold |
Q91YL3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000057816
AA Change: S167P
PolyPhen 2
Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: S167P
| 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: ENSMUST00000123110
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124315
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000129469
AA Change: S167P
PolyPhen 2
Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: S167P
| 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 |
noncoding transcript
Transcript: ENSMUST00000146823
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136875
AA Change: S152P
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
AA Change: S152P
| 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 |
unknown
Transcript: ENSMUST00000144856
AA Change: S151P
|
| SMART Domains |
Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: S151P
| 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: ENSMUST00000142296
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136997
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152365
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000155182
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138408
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156308
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149332
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148847
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154613
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acacb |
A |
G |
5: 114,368,893 (GRCm39) |
T1704A |
possibly damaging |
Het |
| Adam6a |
T |
A |
12: 113,508,447 (GRCm39) |
D273E |
possibly damaging |
Het |
| Adgrv1 |
T |
A |
13: 81,670,355 (GRCm39) |
L1610F |
probably damaging |
Het |
| Ago2 |
C |
T |
15: 73,000,172 (GRCm39) |
|
probably null |
Het |
| Apob |
T |
A |
12: 8,062,619 (GRCm39) |
Y87* |
probably null |
Het |
| Aqp7 |
G |
A |
4: 41,035,510 (GRCm39) |
T115I |
probably benign |
Het |
| Atp7b |
A |
G |
8: 22,508,144 (GRCm39) |
V599A |
probably damaging |
Het |
| Dnah1 |
T |
A |
14: 31,032,863 (GRCm39) |
I391F |
probably benign |
Het |
| Emc2 |
A |
G |
15: 43,360,453 (GRCm39) |
|
probably null |
Het |
| Gbp9 |
G |
T |
5: 105,229,124 (GRCm39) |
Q508K |
probably benign |
Het |
| Grpel1 |
C |
T |
5: 36,626,811 (GRCm39) |
T31M |
probably benign |
Het |
| Gtf3c4 |
C |
T |
2: 28,717,511 (GRCm39) |
A790T |
probably damaging |
Het |
| Hmcn1 |
A |
G |
1: 150,449,305 (GRCm39) |
C115R |
probably damaging |
Het |
| Ik |
G |
A |
18: 36,886,566 (GRCm39) |
R346H |
probably benign |
Het |
| Ldc1 |
A |
C |
4: 130,114,234 (GRCm39) |
V61G |
probably benign |
Het |
| Lhx3 |
A |
G |
2: 26,091,173 (GRCm39) |
S379P |
probably benign |
Het |
| Mocs1 |
A |
G |
17: 49,756,766 (GRCm39) |
|
probably null |
Het |
| Mycbp2 |
C |
A |
14: 103,385,986 (GRCm39) |
V3457F |
probably damaging |
Het |
| Or14j7 |
A |
T |
17: 38,234,861 (GRCm39) |
I135L |
probably benign |
Het |
| Or4a2 |
A |
T |
2: 89,248,031 (GRCm39) |
I242N |
probably damaging |
Het |
| Or5an6 |
G |
A |
19: 12,371,780 (GRCm39) |
R51K |
probably benign |
Het |
| Orc5 |
C |
T |
5: 22,704,969 (GRCm39) |
|
probably null |
Het |
| Phf20 |
T |
C |
2: 156,109,261 (GRCm39) |
S203P |
probably benign |
Het |
| Pkd1l1 |
T |
C |
11: 8,817,204 (GRCm39) |
S1815G |
possibly damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,871,790 (GRCm39) |
V11A |
probably damaging |
Het |
| Ranbp2 |
T |
C |
10: 58,300,086 (GRCm39) |
|
probably null |
Het |
| Ranbp3l |
A |
G |
15: 9,063,169 (GRCm39) |
D326G |
probably damaging |
Het |
| Rsph4a |
C |
T |
10: 33,781,789 (GRCm39) |
A213V |
probably damaging |
Het |
| Sema3b |
A |
G |
9: 107,476,913 (GRCm39) |
S570P |
probably benign |
Het |
| Spata31d1b |
T |
A |
13: 59,866,787 (GRCm39) |
C1312S |
probably benign |
Het |
| Sphkap |
G |
T |
1: 83,253,618 (GRCm39) |
T1377K |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,438,085 (GRCm39) |
R195W |
possibly damaging |
Het |
| Tacr2 |
T |
C |
10: 62,088,769 (GRCm39) |
I58T |
probably damaging |
Het |
| Tmem200c |
A |
T |
17: 69,147,547 (GRCm39) |
K43N |
probably damaging |
Het |
| Tnik |
T |
C |
3: 28,648,241 (GRCm39) |
M431T |
probably benign |
Het |
| Vmn2r90 |
A |
G |
17: 17,954,128 (GRCm39) |
Y764C |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,408,423 (GRCm39) |
|
probably null |
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 |
|
|
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'- TGACATTCGCACCATACAGGG -3'
(R):5'- TTCTATAAGGTGAGGCCCTGCTC -3'
Sequencing Primer
(F):5'- CGCACCATACAGGGTTTTCTGAAAAG -3'
(R):5'- GTGAGGCCCTGCTCATCTAC -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation