Incidental Mutation 'R8530:Uck1'
ID 658975
Institutional Source Beutler Lab
Gene Symbol Uck1
Ensembl Gene ENSMUSG00000002550
Gene Name uridine-cytidine kinase 1
Synonyms URK1
MMRRC Submission 068500-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R8530 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 32145014-32150117 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) C to A at 32150153 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000002625]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002625
SMART Domains Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550

DomainStartEndE-ValueType
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: ENSMUST00000138133
SMART Domains Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550

DomainStartEndE-ValueType
Pfam:PRK 1 151 1e-42 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik G C 3: 137,774,586 (GRCm39) E1258D probably damaging Het
4930407I10Rik T A 15: 81,949,587 (GRCm39) H1161Q probably damaging Het
Adam20 A G 8: 41,249,071 (GRCm39) S394G probably damaging Het
Akr1c12 A T 13: 4,320,160 (GRCm39) F310Y probably benign Het
Ank G A 15: 27,544,490 (GRCm39) A84T probably benign Het
Bcas1 A T 2: 170,229,868 (GRCm39) I244K probably damaging Het
Cacna1a T C 8: 85,339,043 (GRCm39) probably null Het
Car14 T C 3: 95,807,670 (GRCm39) H79R probably benign Het
Cd163 T C 6: 124,295,860 (GRCm39) Y735H probably damaging Het
Cdh11 G A 8: 103,391,387 (GRCm39) P283L probably benign Het
Cfi C T 3: 129,644,382 (GRCm39) T126I possibly damaging Het
Col6a4 T A 9: 105,957,704 (GRCm39) H40L probably benign Het
Dbh A G 2: 27,058,318 (GRCm39) D162G probably damaging Het
Dnah14 A G 1: 181,492,511 (GRCm39) K1657R probably damaging Het
E2f7 T A 10: 110,614,859 (GRCm39) V521D probably benign Het
Eif3g A C 9: 20,809,026 (GRCm39) S93A possibly damaging Het
Fa2h T C 8: 112,082,788 (GRCm39) E143G probably benign Het
Foxc1 C A 13: 31,991,771 (GRCm39) P194Q probably benign Het
Fyco1 A G 9: 123,669,605 (GRCm39) probably null Het
Gabrb3 T C 7: 57,461,819 (GRCm39) S256P probably damaging Het
Gcc1 C A 6: 28,420,730 (GRCm39) D196Y probably damaging Het
Herc1 T A 9: 66,325,910 (GRCm39) D1461E probably benign Het
Hmcn2 C A 2: 31,281,088 (GRCm39) L1867I probably benign Het
Hps6 A T 19: 45,991,959 (GRCm39) probably benign Het
Macc1 A T 12: 119,409,474 (GRCm39) I81F probably damaging Het
Man2c1 G T 9: 57,038,922 (GRCm39) D111Y probably damaging Het
Mast3 A T 8: 71,240,877 (GRCm39) I240N possibly damaging Het
Matn1 A T 4: 130,677,447 (GRCm39) K219* probably null Het
Nup210 C G 6: 91,053,627 (GRCm39) A297P possibly damaging Het
Or5d43 A T 2: 88,105,154 (GRCm39) L80I probably damaging Het
Or6d12 T A 6: 116,493,530 (GRCm39) I264K probably damaging Het
Pcare T C 17: 72,059,101 (GRCm39) Y192C probably damaging Het
Pcnt G A 10: 76,256,039 (GRCm39) R734W probably damaging Het
Phactr3 A G 2: 177,925,819 (GRCm39) N360D probably damaging Het
Pkd1l3 GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA 8: 110,350,827 (GRCm39) probably benign Het
Potefam3a T C 8: 20,356,984 (GRCm38) N242S probably benign Het
Qtrt2 C A 16: 43,689,407 (GRCm39) G197V probably damaging Het
Rabep1 A T 11: 70,810,068 (GRCm39) L500F probably damaging Het
Rhof T A 5: 123,257,581 (GRCm39) D183V probably damaging Het
Shprh T C 10: 11,027,678 (GRCm39) V95A probably benign Het
Spata31d1b A T 13: 59,864,964 (GRCm39) N704I unknown Het
Tas1r2 A T 4: 139,389,460 (GRCm39) Y452F probably benign Het
Tc2n A T 12: 101,617,444 (GRCm39) F325Y possibly damaging Het
Tiam2 G T 17: 3,501,087 (GRCm39) V909L probably benign Het
Tlx1 A T 19: 45,139,524 (GRCm39) Y57F probably benign Het
Vmn2r58 A T 7: 41,513,576 (GRCm39) W356R probably damaging Het
Wars1 G A 12: 108,848,818 (GRCm39) A43V probably damaging Het
Wrn A T 8: 33,770,852 (GRCm39) I694N possibly damaging Het
Zfp120 A G 2: 149,959,168 (GRCm39) Y385H probably benign Het
Other mutations in Uck1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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'- GCCAAAAGTGAGCTTGTGCAC -3'
(R):5'- ATAAGGCAGGGACGGTCCTAAC -3'

Sequencing Primer
(F):5'- AGCTTGTGCACTGAGTGACC -3'
(R):5'- ACGGTCCTAACCCTGTGG -3'
Posted On 2021-01-18