Incidental Mutation 'R2234:Uck1'
| ID |
239901 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Uck1
|
| Ensembl Gene |
ENSMUSG00000002550 |
| Gene Name |
uridine-cytidine kinase 1 |
| Synonyms |
URK1 |
| MMRRC Submission |
040235-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2234 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
32145014-32150117 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 32148315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 167
(D167G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002625
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002625]
[ENSMUST00000036473]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002625
AA Change: D167G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: D167G
| 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 |
unknown
Transcript: ENSMUST00000138133
AA Change: D93G
|
| SMART Domains |
Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
AA Change: D93G
| 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 |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.1%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd6 |
A |
G |
1: 155,434,454 (GRCm39) |
D24G |
probably damaging |
Het |
| Adarb1 |
A |
G |
10: 77,153,183 (GRCm39) |
V322A |
probably damaging |
Het |
| Akap8l |
C |
T |
17: 32,557,777 (GRCm39) |
G37R |
probably damaging |
Het |
| BC035947 |
A |
T |
1: 78,474,599 (GRCm39) |
D644E |
probably damaging |
Het |
| Capzb |
T |
A |
4: 138,989,334 (GRCm39) |
D85E |
possibly damaging |
Het |
| Cd81 |
T |
A |
7: 142,620,056 (GRCm39) |
N71K |
probably benign |
Het |
| Cemip |
G |
T |
7: 83,647,770 (GRCm39) |
D103E |
probably benign |
Het |
| Chfr |
A |
G |
5: 110,318,729 (GRCm39) |
K580E |
probably damaging |
Het |
| Chrnb1 |
A |
T |
11: 69,686,428 (GRCm39) |
I64N |
probably damaging |
Het |
| Clca3a1 |
G |
T |
3: 144,714,829 (GRCm39) |
P596Q |
possibly damaging |
Het |
| Cpb1 |
A |
T |
3: 20,329,629 (GRCm39) |
D32E |
probably benign |
Het |
| Crh |
A |
T |
3: 19,748,096 (GRCm39) |
M182K |
probably damaging |
Het |
| Csta1 |
C |
T |
16: 35,945,445 (GRCm39) |
V23I |
probably damaging |
Het |
| Dazap1 |
A |
G |
10: 80,113,433 (GRCm39) |
K110E |
possibly damaging |
Het |
| Dhx16 |
T |
C |
17: 36,198,778 (GRCm39) |
C737R |
probably damaging |
Het |
| Dync1i2 |
C |
T |
2: 71,079,764 (GRCm39) |
Q419* |
probably null |
Het |
| Eml5 |
A |
C |
12: 98,807,840 (GRCm39) |
D984E |
probably damaging |
Het |
| Fat3 |
G |
A |
9: 15,909,567 (GRCm39) |
S2145F |
probably damaging |
Het |
| Gm12695 |
C |
T |
4: 96,612,266 (GRCm39) |
R499Q |
probably damaging |
Het |
| Hid1 |
A |
G |
11: 115,241,945 (GRCm39) |
I555T |
probably damaging |
Het |
| Hspa2 |
A |
G |
12: 76,451,419 (GRCm39) |
T38A |
possibly damaging |
Het |
| Igf1r |
T |
A |
7: 67,861,828 (GRCm39) |
N1129K |
probably damaging |
Het |
| Iglon5 |
T |
C |
7: 43,130,062 (GRCm39) |
E34G |
probably damaging |
Het |
| Itprid1 |
A |
T |
6: 55,874,797 (GRCm39) |
H249L |
possibly damaging |
Het |
| Kalrn |
C |
A |
16: 33,996,632 (GRCm39) |
|
probably null |
Het |
| Kmt2d |
T |
C |
15: 98,763,129 (GRCm39) |
D240G |
probably damaging |
Het |
| Lrrc56 |
T |
A |
7: 140,778,207 (GRCm39) |
D66E |
probably damaging |
Het |
| Myot |
A |
G |
18: 44,487,339 (GRCm39) |
D392G |
probably damaging |
Het |
| Nphp3 |
G |
A |
9: 103,914,575 (GRCm39) |
R1052H |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or2d4 |
C |
A |
7: 106,543,827 (GRCm39) |
C127F |
probably damaging |
Het |
| Or4c114 |
A |
G |
2: 88,904,592 (GRCm39) |
L281P |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,441 (GRCm39) |
S111P |
possibly damaging |
Het |
| Or7g19 |
A |
T |
9: 18,856,112 (GRCm39) |
H56L |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,921 (GRCm39) |
F12L |
possibly damaging |
Het |
| Pax8 |
A |
G |
2: 24,333,114 (GRCm39) |
I77T |
probably damaging |
Het |
| Paxbp1 |
T |
C |
16: 90,831,822 (GRCm39) |
I355M |
probably benign |
Het |
| Pds5a |
A |
T |
5: 65,811,441 (GRCm39) |
F331I |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,061,147 (GRCm39) |
I2952N |
probably damaging |
Het |
| Ppp1r12a |
A |
G |
10: 108,034,780 (GRCm39) |
I108M |
possibly damaging |
Het |
| Rabepk |
A |
T |
2: 34,685,246 (GRCm39) |
I58N |
possibly damaging |
Het |
| Rnf216 |
G |
A |
5: 143,076,681 (GRCm39) |
H68Y |
probably benign |
Het |
| Scap |
T |
C |
9: 110,210,661 (GRCm39) |
C998R |
probably damaging |
Het |
| Scgb1b27 |
T |
C |
7: 33,721,249 (GRCm39) |
Y46H |
probably damaging |
Het |
| Sf3a2 |
G |
T |
10: 80,638,663 (GRCm39) |
A95S |
probably benign |
Het |
| Smg7 |
A |
T |
1: 152,744,064 (GRCm39) |
Y40N |
probably damaging |
Het |
| Ssc5d |
A |
G |
7: 4,946,849 (GRCm39) |
T1068A |
probably benign |
Het |
| Stambp |
A |
G |
6: 83,528,960 (GRCm39) |
S362P |
probably damaging |
Het |
| Tbx18 |
G |
T |
9: 87,606,403 (GRCm39) |
S247R |
probably damaging |
Het |
| Tenm3 |
T |
C |
8: 48,729,204 (GRCm39) |
I1601V |
probably benign |
Het |
| Thap4 |
G |
T |
1: 93,652,934 (GRCm39) |
Q441K |
probably benign |
Het |
| Tmprss11c |
G |
T |
5: 86,429,945 (GRCm39) |
T40K |
probably benign |
Het |
| Tnk1 |
C |
T |
11: 69,746,017 (GRCm39) |
|
probably null |
Het |
| Trim65 |
G |
T |
11: 116,021,503 (GRCm39) |
T110K |
possibly damaging |
Het |
| Vmn2r124 |
A |
T |
17: 18,269,927 (GRCm39) |
H61L |
possibly damaging |
Het |
| Xpnpep1 |
T |
G |
19: 53,001,892 (GRCm39) |
D118A |
probably damaging |
Het |
| Xylt2 |
C |
T |
11: 94,560,822 (GRCm39) |
V239M |
possibly damaging |
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 |
|
IGL01765:Uck1
|
APN |
2 |
32,148,688 (GRCm39) |
unclassified |
probably benign |
|
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAAAGGCGGTGTACTGAG -3'
(R):5'- CATCGCAGTCTGTTTCCATG -3'
Sequencing Primer
(F):5'- GTACTGAGTCAGGATCTGCTCC -3'
(R):5'- CAGGCCCCTTGTTACTAATGTGAG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation