Incidental Mutation 'R7690:Uck1'
ID 593315
Institutional Source Beutler Lab
Gene Symbol Uck1
Ensembl Gene ENSMUSG00000002550
Gene Name uridine-cytidine kinase 1
Synonyms URK1
MMRRC Submission 045754-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7690 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 32145014-32150117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32148184 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 180 (V180A)
Ref Sequence ENSEMBL: ENSMUSP00000002625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002625] [ENSMUST00000036473]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000002625
AA Change: V180A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: V180A

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: ENSMUST00000036473
SMART Domains Protein: ENSMUSP00000038722
Gene: ENSMUSG00000039254

DomainStartEndE-ValueType
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
SMART Domains Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550
AA Change: V106A

DomainStartEndE-ValueType
Pfam:PRK 1 151 1e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000192998
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 97% (57/59)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T A 1: 71,353,313 (GRCm39) T710S probably benign Het
Adgrl2 A G 3: 148,522,934 (GRCm39) L430P Het
Agap1 T C 1: 89,770,793 (GRCm39) S648P probably benign Het
Alox5 T C 6: 116,392,417 (GRCm39) H368R probably damaging Het
Ano2 T C 6: 125,990,161 (GRCm39) F761L probably damaging Het
Aox4 T C 1: 58,303,076 (GRCm39) V1169A probably damaging Het
Apbb1ip T A 2: 22,706,996 (GRCm39) M11K unknown Het
Arl5a G T 2: 52,302,077 (GRCm39) H112Q possibly damaging Het
Ccdc18 C T 5: 108,376,528 (GRCm39) T1323I probably benign Het
Cmtm5 G A 14: 55,173,938 (GRCm39) probably benign Het
Cul2 T C 18: 3,419,420 (GRCm39) Y194H probably benign Het
Daglb T C 5: 143,479,938 (GRCm39) I415T possibly damaging Het
Ddx28 A G 8: 106,736,963 (GRCm39) V365A probably damaging Het
Dnah6 T C 6: 73,146,063 (GRCm39) probably null Het
Eppk1 T A 15: 75,995,946 (GRCm39) T312S probably benign Het
Erich4 C A 7: 25,314,710 (GRCm39) V68L possibly damaging Het
Fam171a2 G A 11: 102,328,660 (GRCm39) P700S probably benign Het
Fat3 T C 9: 15,909,477 (GRCm39) N2175S probably damaging Het
Fcrl6 T G 1: 172,426,223 (GRCm39) R191S probably damaging Het
Fpgt A G 3: 154,793,467 (GRCm39) S187P probably damaging Het
Gapvd1 T G 2: 34,619,134 (GRCm39) T80P possibly damaging Het
Gclm A G 3: 122,039,705 (GRCm39) N24S probably damaging Het
Gdf15 A G 8: 71,083,997 (GRCm39) I89T possibly damaging Het
Gpn2 A G 4: 133,318,693 (GRCm39) E306G probably damaging Het
Iars2 A T 1: 185,053,194 (GRCm39) L359Q probably damaging Het
Kbtbd4 T G 2: 90,736,240 (GRCm39) C84G possibly damaging Het
Manea A G 4: 26,327,910 (GRCm39) V377A probably benign Het
Map4 C T 9: 109,828,861 (GRCm39) T82I probably damaging Het
Mocos C T 18: 24,797,082 (GRCm39) H81Y probably damaging Het
Mtx1 T A 3: 89,120,088 (GRCm39) T87S Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Myom2 A T 8: 15,161,717 (GRCm39) probably null Het
Mzt1 C T 14: 99,278,024 (GRCm39) C48Y probably damaging Het
Nlrp9b C A 7: 19,758,295 (GRCm39) P511T probably benign Het
Noc2l A G 4: 156,322,088 (GRCm39) E135G probably benign Het
Nova1 G A 12: 46,767,549 (GRCm39) P124L unknown Het
Pax8 T A 2: 24,331,682 (GRCm39) T134S probably benign Het
Pde4a T A 9: 21,077,300 (GRCm39) L26Q probably damaging Het
Pde6b G A 5: 108,567,384 (GRCm39) E254K probably damaging Het
Pdlim7 A G 13: 55,656,744 (GRCm39) I70T probably damaging Het
Pinx1 T A 14: 64,101,660 (GRCm39) probably null Het
Pomt2 C A 12: 87,177,141 (GRCm39) R352L probably damaging Het
Rapgef5 G A 12: 117,685,105 (GRCm39) V519I possibly damaging Het
Rnps1 A G 17: 24,637,168 (GRCm39) E16G unknown Het
Slc4a5 T C 6: 83,262,854 (GRCm39) F782S probably damaging Het
Snap91 A G 9: 86,707,031 (GRCm39) V253A possibly damaging Het
Syce3 T C 15: 89,281,544 (GRCm39) M32V possibly damaging Het
Tcaf3 C A 6: 42,574,069 (GRCm39) V48L probably damaging Het
Tenm4 T C 7: 96,512,740 (GRCm39) V1366A probably benign Het
Tnxb G A 17: 34,908,494 (GRCm39) M1382I probably benign Het
Tnxb G A 17: 34,908,501 (GRCm39) G1385R probably damaging Het
Top3a G T 11: 60,647,206 (GRCm39) L238I probably damaging Het
Trim9 A T 12: 70,295,117 (GRCm39) N742K probably benign Het
Trp63 T A 16: 25,695,483 (GRCm39) Y482N unknown Het
Ttc23 T G 7: 67,319,918 (GRCm39) F192V possibly damaging Het
Vwa5b1 G A 4: 138,318,244 (GRCm39) T541I probably damaging Het
Zfp456 G T 13: 67,514,913 (GRCm39) H264Q probably damaging Het
Zfpm2 T G 15: 40,818,162 (GRCm39) V165G possibly damaging Het
Zup1 C T 10: 33,806,151 (GRCm39) probably null 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
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'- GTCTAGCCTGAGACACACTG -3'
(R):5'- TACCCAGCTGATGTGGTTCTG -3'

Sequencing Primer
(F):5'- GCCTGAGACACACTGGCAAAC -3'
(R):5'- TGGTATTCTACACCCAGGAGATC -3'
Posted On 2019-11-12