Incidental Mutation 'R7051:Uckl1'
ID 547563
Institutional Source Beutler Lab
Gene Symbol Uckl1
Ensembl Gene ENSMUSG00000089917
Gene Name uridine-cytidine kinase 1-like 1
Synonyms Urkl1, 1110007H10Rik
MMRRC Submission 045148-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.166) question?
Stock # R7051 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 181210942-181223820 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 181216037 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 193 (I193V)
Ref Sequence ENSEMBL: ENSMUSP00000114821 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000057816] [ENSMUST00000129469] [ENSMUST00000131949] [ENSMUST00000136875] [ENSMUST00000154613]
AlphaFold Q91YL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000057816
AA Change: I208V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000050398
Gene: ENSMUSG00000089917
AA Change: I208V

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 probably damaging
Transcript: ENSMUST00000129469
AA Change: I208V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000121607
Gene: ENSMUSG00000089917
AA Change: I208V

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 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 probably damaging
Transcript: ENSMUST00000136875
AA Change: I193V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114821
Gene: ENSMUSG00000089917
AA Change: I193V

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
SMART Domains Protein: ENSMUSP00000114982
Gene: ENSMUSG00000089917
AA Change: I192V

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
Predicted Effect probably benign
Transcript: ENSMUST00000154613
Meta Mutation Damage Score 0.6667 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 95% (80/84)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5930422O12Rik C T 8: 33,919,201 (GRCm39) S7L unknown Het
Aggf1 T C 13: 95,488,125 (GRCm39) K674R possibly damaging Het
Ampd1 T C 3: 102,997,389 (GRCm39) F264L probably damaging Het
Ankle1 A T 8: 71,860,387 (GRCm39) S302C probably damaging Het
Ankrd17 G A 5: 90,514,310 (GRCm39) probably benign Het
Arhgap18 T A 10: 26,725,917 (GRCm39) N47K possibly damaging Het
Atp5pb T C 3: 105,851,083 (GRCm39) N205D probably benign Het
Atp8b3 C T 10: 80,355,858 (GRCm39) E1285K probably benign Het
Atp8b3 C A 10: 80,365,552 (GRCm39) V401L probably damaging Het
Cacna1a G A 8: 85,356,544 (GRCm39) R1929Q possibly damaging Het
Cadm2 C T 16: 66,679,767 (GRCm39) S22N possibly damaging Het
Ccdc177 C T 12: 80,805,927 (GRCm39) V116M probably damaging Het
Cdhr18 A G 14: 13,828,486 (GRCm38) V758A Het
Cdkl2 A T 5: 92,181,084 (GRCm39) I185N probably damaging Het
Cfhr2 T A 1: 139,738,716 (GRCm39) I282L probably benign Het
Clns1a T A 7: 97,361,824 (GRCm39) probably null Het
Commd2 A T 3: 57,554,107 (GRCm39) I198N probably damaging Het
Creb3l2 C T 6: 37,313,200 (GRCm39) V365I possibly damaging Het
Dcaf6 A T 1: 165,251,886 (GRCm39) N79K possibly damaging Het
Dlg5 T C 14: 24,196,263 (GRCm39) N1622D possibly damaging Het
Dock7 C T 4: 98,834,969 (GRCm39) R1802H probably damaging Het
Dpy19l2 T C 9: 24,495,789 (GRCm39) K643R probably benign Het
Dscam G A 16: 96,620,986 (GRCm39) T574M probably benign Het
Fam209 A G 2: 172,315,969 (GRCm39) T115A probably damaging Het
Fastkd5 C T 2: 130,456,337 (GRCm39) C751Y probably damaging Het
Fat3 C A 9: 16,289,123 (GRCm39) L133F probably damaging Het
Fcsk A T 8: 111,616,971 (GRCm39) I393N probably damaging Het
Frmd6 T C 12: 70,944,170 (GRCm39) V516A possibly damaging Het
Fry G A 5: 150,318,634 (GRCm39) D955N possibly damaging Het
Gm7298 T C 6: 121,751,993 (GRCm39) probably null Het
Golga7b T A 19: 42,256,899 (GRCm39) *168R probably null Het
Golim4 T A 3: 75,800,309 (GRCm39) Q395L probably benign Het
Gxylt2 T A 6: 100,781,537 (GRCm39) L404* probably null Het
H1f4 A G 13: 23,806,422 (GRCm39) V20A probably benign Het
Ighmbp2 G T 19: 3,311,462 (GRCm39) S984R probably damaging Het
Irf8 C T 8: 121,466,581 (GRCm39) R9W probably damaging Het
Itga4 T C 2: 79,148,470 (GRCm39) V788A possibly damaging Het
Kifap3 G A 1: 163,621,649 (GRCm39) R99H probably damaging Het
Kiss1r T C 10: 79,754,688 (GRCm39) S61P probably damaging Het
Krtap6-1 A T 16: 88,828,606 (GRCm39) M1L unknown Het
Large2 A T 2: 92,197,367 (GRCm39) M411K probably damaging Het
Lcor A G 19: 41,574,191 (GRCm39) D982G probably benign Het
Lingo1 A G 9: 56,527,467 (GRCm39) V374A probably benign Het
Lrch1 A G 14: 75,022,962 (GRCm39) V637A probably damaging Het
Lyar T C 5: 38,382,024 (GRCm39) V2A probably damaging Het
Nell1 C T 7: 50,098,592 (GRCm39) S298L unknown Het
Ogfod3 T A 11: 121,086,031 (GRCm39) I188F probably damaging Het
Opa3 C A 7: 18,978,961 (GRCm39) A142E possibly damaging Het
Or5b123 T A 19: 13,596,769 (GRCm39) M81K possibly damaging Het
Or5k1 T C 16: 58,617,538 (GRCm39) T224A probably benign Het
Pald1 T C 10: 61,159,125 (GRCm39) R769G probably benign Het
Pappa2 T A 1: 158,784,753 (GRCm39) T86S unknown Het
Papss1 T C 3: 131,307,811 (GRCm39) Y266H probably damaging Het
Pcdhga7 C A 18: 37,849,994 (GRCm39) A667D probably damaging Het
Pcsk5 T A 19: 17,411,095 (GRCm39) T1766S probably benign Het
Pds5b T A 5: 150,717,747 (GRCm39) N1129K possibly damaging Het
Pop7 T C 5: 137,499,952 (GRCm39) N127S probably damaging Het
Ppfibp2 A G 7: 107,316,925 (GRCm39) E300G probably damaging Het
Ppp4r3b A G 11: 29,132,507 (GRCm39) K87E probably damaging Het
Psmd3 T A 11: 98,573,659 (GRCm39) M35K possibly damaging Het
Pus7 A G 5: 23,980,677 (GRCm39) V191A probably damaging Het
Rptor C T 11: 119,765,012 (GRCm39) probably benign Het
Sacs A G 14: 61,446,377 (GRCm39) M2808V probably benign Het
Scube3 G A 17: 28,386,573 (GRCm39) V831I probably benign Het
Sin3a A T 9: 57,011,218 (GRCm39) N492Y probably damaging Het
Slc12a3 A G 8: 95,092,572 (GRCm39) T998A probably damaging Het
Slc4a1 T C 11: 102,247,084 (GRCm39) N501S probably benign Het
Sltm G A 9: 70,466,348 (GRCm39) G94R probably damaging Het
Smc4 T A 3: 68,934,835 (GRCm39) W650R probably damaging Het
Smg7 A G 1: 152,724,601 (GRCm39) S527P probably damaging Het
Tcf20 T C 15: 82,740,279 (GRCm39) N391D probably damaging Het
Tiam2 G A 17: 3,498,758 (GRCm39) V845M probably damaging Het
Tln2 A G 9: 67,253,699 (GRCm39) F793L probably benign Het
Ugt1a5 A G 1: 88,094,077 (GRCm39) M102V probably benign Het
Usp38 G A 8: 81,727,750 (GRCm39) P328S possibly damaging Het
Vmn1r189 A G 13: 22,286,285 (GRCm39) V184A possibly damaging Het
Vps13d C A 4: 144,889,914 (GRCm39) A597S probably benign Het
Wdr47 T A 3: 108,525,840 (GRCm39) L121Q probably damaging Het
Wiz A G 17: 32,580,507 (GRCm39) S315P probably damaging Het
Zc3h13 T C 14: 75,568,597 (GRCm39) S1297P probably damaging Het
Zfp27 AATCCGCTTGTGCA AA 7: 29,594,446 (GRCm39) 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
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
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
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'- CACCCACTGTAGTAGTCAGC -3'
(R):5'- AGTGTCCAAGTGCCCATCTATG -3'

Sequencing Primer
(F):5'- CCCACTGTAGTAGTCAGCTAATGG -3'
(R):5'- ATGATTTCACTACCCATAGCCGG -3'
Posted On 2019-05-13