Incidental Mutation 'R0528:Uckl1'
ID 48973
Institutional Source Beutler Lab
Gene Symbol Uckl1
Ensembl Gene ENSMUSG00000089917
Gene Name uridine-cytidine kinase 1-like 1
Synonyms Urkl1, 1110007H10Rik
MMRRC Submission 038720-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R0528 (G1)
Quality Score 206
Status Validated
Chromosome 2
Chromosomal Location 181210942-181223820 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) G to C at 181212283 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000120302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000129469] [ENSMUST00000131949] [ENSMUST00000154613] [ENSMUST00000136875]
AlphaFold Q91YL3
Predicted Effect probably benign
Transcript: ENSMUST00000057816
SMART Domains Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
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: ENSMUST00000124315
Predicted Effect probably benign
Transcript: ENSMUST00000129469
SMART Domains Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
Pfam:UPRTase 1 182 9.8e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142296
Predicted Effect probably benign
Transcript: ENSMUST00000154613
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149332
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146823
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136997
Predicted Effect probably benign
Transcript: ENSMUST00000136875
SMART Domains Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
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 probably benign
Transcript: ENSMUST00000144856
SMART Domains Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917

DomainStartEndE-ValueType
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
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 96% (65/68)
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: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T G 10: 79,838,848 (GRCm39) W674G probably damaging Het
Abcc9 G A 6: 142,638,606 (GRCm39) H103Y probably damaging Het
Ano7 A G 1: 93,323,224 (GRCm39) N495S probably null Het
Aoc1l3 T A 6: 48,964,965 (GRCm39) D324E probably benign Het
Ash1l A G 3: 88,889,584 (GRCm39) N488D probably benign Het
Astn2 A G 4: 65,563,119 (GRCm39) probably benign Het
Atraid T A 5: 31,209,796 (GRCm39) probably benign Het
Baz2b T C 2: 59,767,083 (GRCm39) R866G probably damaging Het
Cep164 T A 9: 45,688,234 (GRCm39) probably benign Het
Clec4f G A 6: 83,629,776 (GRCm39) Q261* probably null Het
Cpne4 A T 9: 104,563,640 (GRCm39) N6Y probably damaging Het
Dhx38 G T 8: 110,289,293 (GRCm39) Q36K probably benign Het
Dna2 C A 10: 62,793,910 (GRCm39) Q341K probably benign Het
Dynap A G 18: 70,375,165 (GRCm39) probably benign Het
Eif3l T C 15: 78,973,809 (GRCm39) V408A probably benign Het
Foxi3 T A 6: 70,934,122 (GRCm39) I203N probably damaging Het
Gcc2 T A 10: 58,134,511 (GRCm39) L1495Q probably damaging Het
Gpr158 A G 2: 21,830,019 (GRCm39) D688G probably damaging Het
Hcfc2 C A 10: 82,575,079 (GRCm39) T246K probably damaging Het
Hdc C T 2: 126,458,152 (GRCm39) E57K probably benign Het
Iqsec3 G C 6: 121,389,743 (GRCm39) probably benign Het
Islr2 T A 9: 58,106,645 (GRCm39) E205V probably damaging Het
Klf9 T C 19: 23,119,498 (GRCm39) L127P probably benign Het
Lamc2 A T 1: 152,999,840 (GRCm39) L1173Q probably damaging Het
Lipe G A 7: 25,097,901 (GRCm39) T14I possibly damaging Het
Lnpep A G 17: 17,751,394 (GRCm39) probably benign Het
Lrrc15 A G 16: 30,092,566 (GRCm39) S258P probably damaging Het
Macc1 A T 12: 119,410,780 (GRCm39) Y516F probably benign Het
Megf6 A G 4: 154,343,630 (GRCm39) T718A probably benign Het
Mtcl2 A G 2: 156,862,612 (GRCm39) L1439P probably damaging Het
Myh1 A G 11: 67,111,445 (GRCm39) D1628G probably damaging Het
Naca C T 10: 127,879,162 (GRCm39) T1398I probably benign Het
Or1f12 A G 13: 21,721,416 (GRCm39) F238S possibly damaging Het
Or2a54 A T 6: 43,093,150 (GRCm39) H158L possibly damaging Het
Padi4 A G 4: 140,496,740 (GRCm39) V52A possibly damaging Het
Paqr5 G A 9: 61,863,527 (GRCm39) T251I probably damaging Het
Pcm1 A G 8: 41,768,967 (GRCm39) D1611G probably damaging Het
Prss12 G A 3: 123,276,445 (GRCm39) R358K probably benign Het
Racgap1 A T 15: 99,526,587 (GRCm39) H325Q probably damaging Het
Rbm12b1 A G 4: 12,145,657 (GRCm39) H543R probably benign Het
Rc3h1 A T 1: 160,795,228 (GRCm39) N1076I probably damaging Het
Rp1 A G 1: 4,415,088 (GRCm39) L2008P possibly damaging Het
Rsph3a A G 17: 8,164,919 (GRCm39) H93R possibly damaging Het
Sbf1 C T 15: 89,172,915 (GRCm39) R1840H probably damaging Het
Skic8 T A 9: 54,630,219 (GRCm39) probably benign Het
Sytl2 T C 7: 90,052,228 (GRCm39) probably benign Het
Tbc1d9 T C 8: 83,937,085 (GRCm39) S56P probably damaging Het
Tiam2 A T 17: 3,561,346 (GRCm39) M1304L probably damaging Het
Tmprss11b G T 5: 86,819,753 (GRCm39) R9S probably damaging Het
Tnfrsf21 T A 17: 43,348,505 (GRCm39) I39N probably benign Het
Tnrc6b T C 15: 80,763,604 (GRCm39) S369P probably benign Het
Tpra1 T C 6: 88,887,372 (GRCm39) V217A probably benign Het
Vmn1r199 A T 13: 22,566,736 (GRCm39) Q10L probably benign Het
Vmn2r76 A G 7: 85,879,506 (GRCm39) S265P possibly damaging Het
Vwa5b1 A T 4: 138,321,662 (GRCm39) L377Q probably damaging Het
Wrap73 A G 4: 154,229,776 (GRCm39) D49G probably damaging Het
Zfp764 T A 7: 127,004,051 (GRCm39) Q360L possibly damaging Het
Zfp846 G A 9: 20,499,224 (GRCm39) probably benign Het
Zranb2 T C 3: 157,240,096 (GRCm39) I14T probably benign Het
Other mutations in Uckl1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R5751:Uckl1 UTSW 2 181,216,245 (GRCm39) missense possibly damaging 0.81
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'- TGTTCAATAAGCAGCCGCATCAGTC -3'
(R):5'- TCTTTCATGGGTCAGCCATAGCCAG -3'

Sequencing Primer
(F):5'- AGCCGCATCAGTCTTTTGG -3'
(R):5'- CCCCCACAGTGATGTTCAG -3'
Posted On 2013-06-12