Incidental Mutation 'R4666:Uckl1'
ID 351891
Institutional Source Beutler Lab
Gene Symbol Uckl1
Ensembl Gene ENSMUSG00000089917
Gene Name uridine-cytidine kinase 1-like 1
Synonyms Urkl1, 1110007H10Rik
MMRRC Submission 041924-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R4666 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 181210942-181223820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 181216661 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Threonine at position 95 (S95T)
Ref Sequence ENSEMBL: ENSMUSP00000121607 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000129469] [ENSMUST00000136875] [ENSMUST00000131949] [ENSMUST00000154613]
AlphaFold Q91YL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000057816
AA Change: S95T

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: S95T

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: ENSMUST00000122831
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123110
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124315
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126672
Predicted Effect possibly damaging
Transcript: ENSMUST00000129469
AA Change: S95T

PolyPhen 2 Score 0.911 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: S95T

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: ENSMUST00000146823
Predicted Effect probably benign
Transcript: ENSMUST00000136875
AA Change: S80T

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
AA Change: S80T

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 unknown
Transcript: ENSMUST00000144856
AA Change: S79T
SMART Domains Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: S79T

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148847
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130893
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142296
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142491
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148004
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138408
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149332
Predicted Effect probably benign
Transcript: ENSMUST00000131949
Predicted Effect probably benign
Transcript: ENSMUST00000134340
SMART Domains Protein: ENSMUSP00000122098
Gene: ENSMUSG00000089917

Pfam:UPRTase 1 182 9.8e-63 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156308
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152365
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156998
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155182
Predicted Effect probably benign
Transcript: ENSMUST00000154613
Meta Mutation Damage Score 0.0609 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency
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: 100 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410137M14Rik G A 17: 37,289,794 (GRCm39) S12L probably benign Het
Abce1 A G 8: 80,414,115 (GRCm39) V532A probably damaging Het
Adamts12 T A 15: 11,311,578 (GRCm39) N1278K probably benign Het
Adipor1 T A 1: 134,352,643 (GRCm39) I138N probably damaging Het
Aox1 C T 1: 58,343,756 (GRCm39) Q480* probably null Het
Arhgef38 C T 3: 132,846,533 (GRCm39) probably null Het
Atmin A G 8: 117,684,698 (GRCm39) D786G probably damaging Het
Bltp3a G T 17: 28,112,477 (GRCm39) W1222L possibly damaging Het
Capn1 A T 19: 6,061,045 (GRCm39) N253K probably benign Het
Cdh8 T C 8: 99,751,534 (GRCm39) T728A possibly damaging Het
Celsr1 A G 15: 85,914,695 (GRCm39) S1093P probably damaging Het
Cep135 C A 5: 76,764,701 (GRCm39) P560T probably benign Het
Chfr C T 5: 110,292,733 (GRCm39) Q167* probably null Het
Chrna4 A G 2: 180,679,286 (GRCm39) S54P probably damaging Het
Cntln A G 4: 84,889,453 (GRCm39) N312S probably benign Het
Cntn6 A G 6: 104,705,245 (GRCm39) E154G probably benign Het
Col6a6 T A 9: 105,644,541 (GRCm39) Y1249F possibly damaging Het
Cpsf2 T C 12: 101,949,466 (GRCm39) S61P probably damaging Het
Cpvl C T 6: 53,908,918 (GRCm39) E282K probably benign Het
Cryba2 C T 1: 74,929,207 (GRCm39) D179N probably benign Het
Daglb A T 5: 143,489,104 (GRCm39) R654W probably damaging Het
Dennd3 A G 15: 73,442,709 (GRCm39) D1244G probably damaging Het
Dhx57 T C 17: 80,582,390 (GRCm39) E405G probably damaging Het
Dnah10 T C 5: 124,905,536 (GRCm39) M4060T possibly damaging Het
Dph1 A G 11: 75,072,156 (GRCm39) S238P probably damaging Het
Duox1 C T 2: 122,149,956 (GRCm39) P116S probably benign Het
Ebf1 A G 11: 44,882,384 (GRCm39) N447D probably damaging Het
Epg5 A G 18: 78,056,079 (GRCm39) N1751S probably benign Het
Exoc6 A G 19: 37,558,953 (GRCm39) D75G probably damaging Het
Extl2 T A 3: 115,817,856 (GRCm39) I70N probably damaging Het
Fanca T C 8: 123,995,711 (GRCm39) T1364A probably damaging Het
Fbln7 T A 2: 128,736,830 (GRCm39) probably null Het
Foxa3 G T 7: 18,748,297 (GRCm39) C275* probably null Het
Foxred1 C T 9: 35,122,151 (GRCm39) probably benign Het
Galr2 A G 11: 116,174,455 (GRCm39) T362A probably benign Het
Garem2 C A 5: 30,319,665 (GRCm39) R376S probably damaging Het
Garre1 T C 7: 33,984,198 (GRCm39) M142V probably damaging Het
Gatc T A 5: 115,473,606 (GRCm39) N111I probably benign Het
Gjb4 C A 4: 127,245,571 (GRCm39) K123N probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gtdc1 T C 2: 44,481,937 (GRCm39) N301S probably benign Het
Gtf2ird1 T A 5: 134,412,756 (GRCm39) E55V probably damaging Het
Gtsf1 T C 15: 103,329,632 (GRCm39) I96V probably benign Het
Homer1 T A 13: 93,538,667 (GRCm39) I170N probably damaging Het
Homer3 G A 8: 70,742,793 (GRCm39) probably null Het
Hoxb9 A G 11: 96,165,657 (GRCm39) K242R possibly damaging Het
Ifna14 T C 4: 88,489,573 (GRCm39) R155G probably benign Het
Lrrc7 GAAGTTGTTTGGAGATTCTTATCTTA GA 3: 158,024,045 (GRCm39) probably benign Het
Lsm11 A G 11: 45,824,640 (GRCm39) S296P probably damaging Het
Macrod2 T C 2: 142,059,519 (GRCm39) L265P probably damaging Het
Mcu G A 10: 59,292,521 (GRCm39) L53F probably damaging Het
Mpv17l2 A G 8: 71,213,061 (GRCm39) V104A possibly damaging Het
Myh10 G A 11: 68,692,556 (GRCm39) probably null Het
Nemf T C 12: 69,359,054 (GRCm39) E1031G probably damaging Het
Nhsl1 G A 10: 18,407,153 (GRCm39) S1395N probably damaging Het
Niban3 G T 8: 72,056,469 (GRCm39) E390* probably null Het
Nlrp2 T A 7: 5,322,188 (GRCm39) I82F probably benign Het
Nlrp4e T A 7: 23,036,205 (GRCm39) L686* probably null Het
Nudt12os T A 17: 59,331,546 (GRCm39) noncoding transcript Het
Or10ag57 T A 2: 87,218,220 (GRCm39) I57K probably damaging Het
Or10j5 G A 1: 172,785,157 (GRCm39) S265N probably benign Het
Or2h1b A T 17: 37,462,270 (GRCm39) S44T possibly damaging Het
Or5ac23 A G 16: 59,149,573 (GRCm39) Y100H possibly damaging Het
Or5k16 T C 16: 58,736,947 (GRCm39) D19G probably benign Het
Or8g27 T A 9: 39,129,142 (GRCm39) M163K probably damaging Het
Pde7a T C 3: 19,314,420 (GRCm39) T59A probably damaging Het
Pde7b A C 10: 20,314,496 (GRCm39) D203E probably damaging Het
Phkg2 T A 7: 127,177,156 (GRCm39) I94N possibly damaging Het
Pik3r2 G A 8: 71,221,503 (GRCm39) T667I possibly damaging Het
Pitx3 T A 19: 46,125,540 (GRCm39) H68L possibly damaging Het
Prcd A G 11: 116,558,990 (GRCm39) probably benign Het
Prune2 C T 19: 17,097,552 (GRCm39) R1019* probably null Het
Psap A G 10: 60,136,324 (GRCm39) D486G probably benign Het
Purb A T 11: 6,425,615 (GRCm39) V91E probably damaging Het
Recql C A 6: 142,322,567 (GRCm39) V112F probably damaging Het
Rptor A T 11: 119,634,708 (GRCm39) I175F probably damaging Het
Sbf1 C T 15: 89,179,449 (GRCm39) V1385M probably damaging Het
Serpinb13 C T 1: 106,910,574 (GRCm39) S66L probably damaging Het
Slc35f6 T C 5: 30,812,957 (GRCm39) L37P probably damaging Het
Slc6a3 T A 13: 73,686,700 (GRCm39) N22K possibly damaging Het
Sorl1 A T 9: 41,915,347 (GRCm39) M1294K probably damaging Het
Sp6 C A 11: 96,912,701 (GRCm39) A138E probably benign Het
Spag8 G T 4: 43,653,408 (GRCm39) probably benign Het
Spmip4 G T 6: 50,572,808 (GRCm39) T35K possibly damaging Het
Spon1 T A 7: 113,628,204 (GRCm39) M320K probably benign Het
Tceanc2 A T 4: 107,022,757 (GRCm39) S77T probably damaging Het
Thsd7a T A 6: 12,337,313 (GRCm39) T1235S possibly damaging Het
Thsd7a T A 6: 12,504,012 (GRCm39) I381F possibly damaging Het
Tmc4 T C 7: 3,674,270 (GRCm39) probably null Het
Tmprss11d T C 5: 86,457,260 (GRCm39) D133G probably damaging Het
Trav13n-3 T A 14: 53,574,953 (GRCm39) V65D probably damaging Het
Trpm1 G T 7: 63,852,782 (GRCm39) L65F probably damaging Het
Tyk2 C T 9: 21,025,503 (GRCm39) A741T probably damaging Het
Ube2v1 T A 2: 167,452,297 (GRCm39) Y102F probably damaging Het
Vcan C A 13: 89,828,053 (GRCm39) W2171L probably damaging Het
Vinac1 T C 2: 128,880,150 (GRCm39) H592R probably benign Het
Vmn1r64 T C 7: 5,887,357 (GRCm39) N62S probably damaging Het
Vmn2r67 T C 7: 84,799,831 (GRCm39) D469G probably benign Het
Vps13b A G 15: 35,640,690 (GRCm39) S1352G probably benign Het
Zbtb38 C T 9: 96,570,436 (GRCm39) R216H probably damaging 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
R0528:Uckl1 UTSW 2 181,212,283 (GRCm39) splice site probably benign
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
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

Sequencing Primer
Posted On 2015-10-08