Incidental Mutation 'IGL01765:Uck1'
| ID |
153327 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Uck1
|
| Ensembl Gene |
ENSMUSG00000002550 |
| Gene Name |
uridine-cytidine kinase 1 |
| Synonyms |
URK1 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01765
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
2 |
| Chromosomal Location |
32145014-32150117 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to G
at 32148688 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002625]
[ENSMUST00000036473]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002625
|
| SMART Domains |
Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
8 |
19 |
N/A |
INTRINSIC |
|
Pfam:CoaE
|
30 |
198 |
1.1e-8 |
PFAM |
|
Pfam:AAA_17
|
31 |
188 |
3.8e-8 |
PFAM |
|
Pfam:PRK
|
31 |
225 |
1.9e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036473
|
| SMART Domains |
Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PMT
|
42 |
289 |
2.8e-96 |
PFAM |
|
MIR
|
318 |
381 |
7.45e-8 |
SMART |
|
MIR
|
392 |
449 |
1.65e-9 |
SMART |
|
MIR
|
456 |
513 |
6.2e-5 |
SMART |
|
Pfam:PMT_4TMC
|
542 |
740 |
3.9e-50 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000133804
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134351
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000138133
|
| SMART Domains |
Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PRK
|
1 |
151 |
1e-42 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142797
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192998
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a uridine-cytidine kinase that catalyzes the phosphorylation of uridine and cytidine to uridine monophosphate (UMP) and cytidine monophosphate (CMP) but not the phosphorylation of deoxyribonucleosides or purine ribonucleosides. This enzyme can also phosphorylate uridine and cytidine analogs and uses both ATP and GTP as a phosphate donor. Alternative splicing results in multiple splice variants encoding distinct isoforms. [provided by RefSeq, May 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf2 |
A |
T |
17: 43,030,426 (GRCm39) |
M11K |
probably benign |
Het |
| Agap2 |
T |
C |
10: 126,919,104 (GRCm39) |
V442A |
unknown |
Het |
| Cdh20 |
C |
T |
1: 109,988,836 (GRCm39) |
T246I |
probably damaging |
Het |
| Creb3l1 |
T |
C |
2: 91,854,446 (GRCm39) |
D2G |
possibly damaging |
Het |
| Dicer1 |
G |
A |
12: 104,672,999 (GRCm39) |
R811C |
probably damaging |
Het |
| Drosha |
C |
A |
15: 12,902,766 (GRCm39) |
A1012E |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,730,082 (GRCm39) |
I896T |
probably damaging |
Het |
| Fastkd5 |
T |
C |
2: 130,457,654 (GRCm39) |
Y312C |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,294,788 (GRCm39) |
F428L |
probably benign |
Het |
| Hrh4 |
G |
A |
18: 13,140,252 (GRCm39) |
R49Q |
probably damaging |
Het |
| Lrp6 |
T |
C |
6: 134,433,108 (GRCm39) |
T1408A |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,913 (GRCm39) |
E132G |
probably damaging |
Het |
| Ltf |
T |
C |
9: 110,851,085 (GRCm39) |
V99A |
possibly damaging |
Het |
| Mettl13 |
A |
T |
1: 162,366,522 (GRCm39) |
D452E |
probably benign |
Het |
| Ndufa7 |
G |
T |
17: 34,048,786 (GRCm39) |
E83* |
probably null |
Het |
| Nmrk1 |
C |
T |
19: 18,616,902 (GRCm39) |
T17M |
probably damaging |
Het |
| Ntsr1 |
A |
G |
2: 180,180,510 (GRCm39) |
E272G |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 59,006,610 (GRCm39) |
K1184R |
possibly damaging |
Het |
| Or10z1 |
T |
G |
1: 174,077,703 (GRCm39) |
K263N |
probably damaging |
Het |
| Or11j4 |
A |
T |
14: 50,630,291 (GRCm39) |
Q26L |
probably benign |
Het |
| Or1e21 |
A |
C |
11: 73,344,303 (GRCm39) |
L245R |
probably damaging |
Het |
| Or2n1 |
G |
T |
17: 38,486,577 (GRCm39) |
V201L |
probably benign |
Het |
| Or4a68 |
C |
T |
2: 89,270,144 (GRCm39) |
V160I |
probably benign |
Het |
| Or7e170 |
A |
T |
9: 19,795,247 (GRCm39) |
M118K |
possibly damaging |
Het |
| Pcdhb10 |
A |
G |
18: 37,547,072 (GRCm39) |
K716R |
probably benign |
Het |
| Phldb3 |
A |
G |
7: 24,316,800 (GRCm39) |
D267G |
possibly damaging |
Het |
| Plcb2 |
T |
A |
2: 118,540,749 (GRCm39) |
|
probably benign |
Het |
| Pramel17 |
T |
C |
4: 101,695,049 (GRCm39) |
I87M |
probably benign |
Het |
| Pusl1 |
A |
G |
4: 155,974,170 (GRCm39) |
F219L |
probably damaging |
Het |
| Rbbp6 |
T |
C |
7: 122,599,177 (GRCm39) |
|
probably benign |
Het |
| Rev3l |
T |
A |
10: 39,704,261 (GRCm39) |
D228E |
probably benign |
Het |
| Rnf213 |
A |
T |
11: 119,327,178 (GRCm39) |
M1723L |
probably benign |
Het |
| Sc5d |
A |
G |
9: 42,167,464 (GRCm39) |
F128S |
probably damaging |
Het |
| Sco1 |
T |
C |
11: 66,944,616 (GRCm39) |
S80P |
probably damaging |
Het |
| Supt16 |
C |
T |
14: 52,417,680 (GRCm39) |
R278H |
probably damaging |
Het |
| Supt6 |
A |
G |
11: 78,112,985 (GRCm39) |
I986T |
probably benign |
Het |
| Trio |
A |
G |
15: 27,764,112 (GRCm39) |
V860A |
possibly damaging |
Het |
| Vmn2r63 |
T |
C |
7: 42,552,788 (GRCm39) |
T823A |
probably benign |
Het |
|
| Other mutations in Uck1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00087:Uck1
|
APN |
2 |
32,149,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02028:Uck1
|
APN |
2 |
32,148,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02863:Uck1
|
APN |
2 |
32,148,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03114:Uck1
|
APN |
2 |
32,148,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03159:Uck1
|
APN |
2 |
32,148,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL03325:Uck1
|
APN |
2 |
32,148,334 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4378001:Uck1
|
UTSW |
2 |
32,146,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1019:Uck1
|
UTSW |
2 |
32,146,205 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R1332:Uck1
|
UTSW |
2 |
32,149,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1336:Uck1
|
UTSW |
2 |
32,149,666 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1428:Uck1
|
UTSW |
2 |
32,148,367 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2173:Uck1
|
UTSW |
2 |
32,146,088 (GRCm39) |
unclassified |
probably benign |
|
|
R2233:Uck1
|
UTSW |
2 |
32,148,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2234:Uck1
|
UTSW |
2 |
32,148,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2938:Uck1
|
UTSW |
2 |
32,146,088 (GRCm39) |
unclassified |
probably benign |
|
|
R3079:Uck1
|
UTSW |
2 |
32,148,089 (GRCm39) |
unclassified |
probably benign |
|
|
R4667:Uck1
|
UTSW |
2 |
32,146,046 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5036:Uck1
|
UTSW |
2 |
32,148,478 (GRCm39) |
unclassified |
probably benign |
|
|
R6463:Uck1
|
UTSW |
2 |
32,148,667 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7072:Uck1
|
UTSW |
2 |
32,148,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7690:Uck1
|
UTSW |
2 |
32,148,184 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8021:Uck1
|
UTSW |
2 |
32,149,929 (GRCm39) |
missense |
probably benign |
0.17 |
|
R8415:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8416:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8437:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8438:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8440:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8442:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8530:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8537:Uck1
|
UTSW |
2 |
32,150,153 (GRCm39) |
unclassified |
probably benign |
|
|
R8749:Uck1
|
UTSW |
2 |
32,146,524 (GRCm39) |
missense |
|
|
|
R9494:Uck1
|
UTSW |
2 |
32,148,179 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2014-02-04 |
Incidental Mutation