Incidental Mutation 'R4667:Uck1'
ID 351997
Institutional Source Beutler Lab
Gene Symbol Uck1
Ensembl Gene ENSMUSG00000002550
Gene Name uridine-cytidine kinase 1
Synonyms URK1
MMRRC Submission 042012-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4667 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 32255002-32260159 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 32256034 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 283 (H283L)
Ref Sequence ENSEMBL: ENSMUSP00000002625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002625] [ENSMUST00000036473]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000002625
AA Change: H283L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: H283L

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

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 noncoding transcript
Transcript: ENSMUST00000129163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133804
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134351
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138000
Predicted Effect probably benign
Transcript: ENSMUST00000138133
SMART Domains Protein: ENSMUSP00000125350
Gene: ENSMUSG00000002550

Pfam:PRK 1 151 1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151598
Predicted Effect probably benign
Transcript: ENSMUST00000192998
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 95.1%
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: 109 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930539E08Rik G T 17: 28,908,313 (GRCm38) Q241K possibly damaging Het
Acad8 A G 9: 26,990,627 (GRCm38) L147P probably damaging Het
Adgra3 T A 5: 49,978,956 (GRCm38) Y729F possibly damaging Het
Ago2 A G 15: 73,146,416 (GRCm38) Y58H probably damaging Het
Akap13 A G 7: 75,729,094 (GRCm38) T2128A probably damaging Het
Akap2 A T 4: 57,855,655 (GRCm38) D328V possibly damaging Het
Ankhd1 C A 18: 36,648,021 (GRCm38) P2042Q possibly damaging Het
Arhgef15 T C 11: 68,954,561 (GRCm38) K155R probably benign Het
Atp10b T C 11: 43,247,518 (GRCm38) F1209L probably damaging Het
B130006D01Rik A T 11: 95,726,509 (GRCm38) probably benign Het
Bmpr2 T C 1: 59,867,716 (GRCm38) L656S probably damaging Het
Btbd17 A G 11: 114,793,857 (GRCm38) F119L possibly damaging Het
Ccdc191 G T 16: 43,931,283 (GRCm38) K267N probably damaging Het
Ceacam20 T C 7: 19,986,027 (GRCm38) Y495H probably damaging Het
Celf2 T C 2: 6,721,528 (GRCm38) I47V probably benign Het
Chd9 T C 8: 91,033,800 (GRCm38) S2058P possibly damaging Het
Clcn6 T C 4: 148,024,167 (GRCm38) E135G possibly damaging Het
Cntn1 T A 15: 92,295,079 (GRCm38) N687K probably damaging Het
Col1a2 A T 6: 4,512,412 (GRCm38) M99L unknown Het
Cpeb2 T C 5: 43,233,892 (GRCm38) probably benign Het
Csn1s2b A G 5: 87,822,311 (GRCm38) T134A possibly damaging Het
Cst13 A T 2: 148,823,081 (GRCm38) probably benign Het
Cyp2c66 T A 19: 39,176,656 (GRCm38) D360E probably damaging Het
Dhx8 A G 11: 101,738,161 (GRCm38) S179G unknown Het
Dip2b A G 15: 100,151,360 (GRCm38) I212V probably benign Het
Dnah9 G A 11: 66,155,531 (GRCm38) H64Y probably benign Het
Dnal1 T C 12: 84,136,700 (GRCm38) probably benign Het
Dse T G 10: 34,153,012 (GRCm38) Y694S probably damaging Het
Dync2h1 T C 9: 7,051,411 (GRCm38) I3175V probably benign Het
Elf5 A G 2: 103,449,060 (GRCm38) N209D probably damaging Het
Elovl1 A G 4: 118,430,787 (GRCm38) Y40C probably damaging Het
Erp27 T C 6: 136,908,152 (GRCm38) E216G possibly damaging Het
F5 G A 1: 164,174,186 (GRCm38) V153I probably benign Het
Fam186a G A 15: 99,944,532 (GRCm38) T1277I possibly damaging Het
Fam90a1a A T 8: 21,963,346 (GRCm38) H239L possibly damaging Het
Fchsd2 G T 7: 101,250,449 (GRCm38) R334L probably damaging Het
Fermt3 T C 19: 7,002,920 (GRCm38) Y369C probably damaging Het
Fhod3 C T 18: 25,066,338 (GRCm38) P689S probably benign Het
Fnbp1l G T 3: 122,556,567 (GRCm38) Q332K probably benign Het
Frem3 T C 8: 80,663,420 (GRCm38) S1767P probably damaging Het
Ggt5 T C 10: 75,603,031 (GRCm38) L121P probably damaging Het
Gm609 A G 16: 45,444,163 (GRCm38) S11P probably benign Het
Gphn T C 12: 78,454,817 (GRCm38) S119P probably damaging Het
Herc2 A G 7: 56,131,253 (GRCm38) D1222G probably damaging Het
Hmx3 T C 7: 131,544,382 (GRCm38) I273T possibly damaging Het
Hnrnpu A G 1: 178,332,181 (GRCm38) probably benign Het
Hspg2 C T 4: 137,539,645 (GRCm38) T1987I possibly damaging Het
Ighv1-22 T A 12: 114,746,451 (GRCm38) Q58L probably damaging Het
Ighv14-3 T A 12: 114,060,255 (GRCm38) I7F probably benign Het
Kcns3 C A 12: 11,091,783 (GRCm38) R305L probably damaging Het
Kcnu1 C T 8: 25,910,921 (GRCm38) A699V possibly damaging Het
Kif22 A C 7: 127,033,328 (GRCm38) L270W probably damaging Het
Lrp2 G T 2: 69,489,298 (GRCm38) H1960Q probably benign Het
March7 C T 2: 60,241,050 (GRCm38) Q94* probably null Het
Mcoln3 A T 3: 146,131,204 (GRCm38) I264F probably benign Het
Mdn1 A C 4: 32,679,572 (GRCm38) T706P probably damaging Het
Mfsd2b A G 12: 4,867,636 (GRCm38) C137R probably benign Het
Mmp25 A G 17: 23,644,607 (GRCm38) V83A probably benign Het
Mocos T C 18: 24,666,434 (GRCm38) Y242H probably benign Het
Msh6 T C 17: 87,984,806 (GRCm38) S330P possibly damaging Het
Mtus2 T C 5: 148,298,260 (GRCm38) S1156P possibly damaging Het
Muc5b G A 7: 141,842,379 (GRCm38) R124H unknown Het
Mybbp1a G A 11: 72,447,971 (GRCm38) E775K possibly damaging Het
Myo10 A G 15: 25,793,153 (GRCm38) E1272G possibly damaging Het
Nars A G 18: 64,505,231 (GRCm38) S254P possibly damaging Het
Ncapd2 A G 6: 125,184,518 (GRCm38) I211T possibly damaging Het
Ncoa7 A T 10: 30,690,790 (GRCm38) W582R probably damaging Het
Npr3 T A 15: 11,905,467 (GRCm38) D58V possibly damaging Het
Nr3c1 G T 18: 39,428,727 (GRCm38) T430K probably benign Het
Odf2l A G 3: 145,128,040 (GRCm38) T111A probably benign Het
Ogdh G T 11: 6,340,600 (GRCm38) C406F probably benign Het
Olfml2a T G 2: 38,949,010 (GRCm38) S190A probably damaging Het
Olfr148 T C 9: 39,613,738 (GRCm38) M57T probably damaging Het
Olfr243 A G 7: 103,716,638 (GRCm38) T15A probably benign Het
Olfr870 T C 9: 20,171,098 (GRCm38) I158V probably benign Het
Olfr965 G T 9: 39,719,709 (GRCm38) V161F probably benign Het
Optn T C 2: 5,033,139 (GRCm38) K415E probably benign Het
Perm1 C A 4: 156,220,206 (GRCm38) S803* probably null Het
Pex14 T C 4: 148,984,085 (GRCm38) T84A probably benign Het
Pih1d2 T A 9: 50,620,952 (GRCm38) Y103* probably null Het
Pikfyve T A 1: 65,250,273 (GRCm38) C1235S probably damaging Het
Polr1a A G 6: 71,917,821 (GRCm38) N171S probably benign Het
Prrx1 A G 1: 163,254,047 (GRCm38) S201P probably benign Het
Psme2b A T 11: 48,945,666 (GRCm38) N151K probably benign Het
Serpinb5 A T 1: 106,872,295 (GRCm38) T72S probably benign Het
Sgsm1 A G 5: 113,260,047 (GRCm38) probably null Het
Sipa1l2 T C 8: 125,453,470 (GRCm38) R1063G possibly damaging Het
Slc19a3 T C 1: 83,022,799 (GRCm38) T166A probably benign Het
Slc5a4b T C 10: 76,075,045 (GRCm38) Y319C possibly damaging Het
Stard3nl T A 13: 19,376,519 (GRCm38) N29Y probably damaging Het
Sult6b2 G T 6: 142,801,695 (GRCm38) C109* probably null Het
Tcf25 A G 8: 123,397,025 (GRCm38) E467G possibly damaging Het
Tmem177 A T 1: 119,910,220 (GRCm38) V243D probably benign Het
Tmem2 G A 19: 21,797,351 (GRCm38) R119H probably benign Het
Tmem2 C T 19: 21,844,781 (GRCm38) A1180V probably benign Het
Top2b T G 14: 16,409,189 (GRCm38) I777M probably damaging Het
Tspan11 T A 6: 127,943,715 (GRCm38) C208* probably null Het
Ttc1 A G 11: 43,745,317 (GRCm38) V33A probably benign Het
Utrn A C 10: 12,698,053 (GRCm38) V1091G probably benign Het
Vmn1r11 A T 6: 57,137,498 (GRCm38) H49L probably damaging Het
Vmn1r160 G T 7: 22,872,053 (GRCm38) S277I probably benign Het
Vmn1r18 A T 6: 57,390,084 (GRCm38) S162T probably benign Het
Vps37b A G 5: 124,010,732 (GRCm38) L80P probably damaging Het
Wfdc3 T C 2: 164,743,086 (GRCm38) M1V probably null Het
Wrn A T 8: 33,324,338 (GRCm38) N116K probably benign Het
Wscd2 G T 5: 113,577,272 (GRCm38) G391V probably damaging Het
Zcchc11 G A 4: 108,495,159 (GRCm38) E357K probably damaging Het
Zfp286 A G 11: 62,780,602 (GRCm38) V215A probably benign Het
Zfp568 A G 7: 30,023,277 (GRCm38) H549R probably damaging Het
Other mutations in Uck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00087:Uck1 APN 2 32,259,669 (GRCm38) missense probably damaging 1.00
IGL01765:Uck1 APN 2 32,258,676 (GRCm38) unclassified probably benign
IGL02028:Uck1 APN 2 32,258,137 (GRCm38) missense probably damaging 1.00
IGL02863:Uck1 APN 2 32,258,322 (GRCm38) missense probably benign 0.04
IGL03114:Uck1 APN 2 32,258,322 (GRCm38) missense probably benign 0.04
IGL03159:Uck1 APN 2 32,258,322 (GRCm38) missense probably benign 0.04
IGL03325:Uck1 APN 2 32,258,322 (GRCm38) missense probably benign 0.04
PIT4378001:Uck1 UTSW 2 32,256,034 (GRCm38) missense probably damaging 1.00
R1019:Uck1 UTSW 2 32,256,193 (GRCm38) missense possibly damaging 0.88
R1332:Uck1 UTSW 2 32,259,654 (GRCm38) missense probably damaging 1.00
R1336:Uck1 UTSW 2 32,259,654 (GRCm38) missense probably damaging 1.00
R1428:Uck1 UTSW 2 32,258,355 (GRCm38) missense probably damaging 1.00
R2173:Uck1 UTSW 2 32,256,076 (GRCm38) unclassified probably benign
R2233:Uck1 UTSW 2 32,258,303 (GRCm38) missense probably damaging 1.00
R2234:Uck1 UTSW 2 32,258,303 (GRCm38) missense probably damaging 1.00
R2938:Uck1 UTSW 2 32,256,076 (GRCm38) unclassified probably benign
R3079:Uck1 UTSW 2 32,258,077 (GRCm38) unclassified probably benign
R5036:Uck1 UTSW 2 32,258,466 (GRCm38) unclassified probably benign
R6463:Uck1 UTSW 2 32,258,655 (GRCm38) missense probably benign 0.00
R7072:Uck1 UTSW 2 32,258,166 (GRCm38) missense probably damaging 1.00
R7690:Uck1 UTSW 2 32,258,172 (GRCm38) missense probably benign 0.03
R8021:Uck1 UTSW 2 32,259,917 (GRCm38) missense probably benign 0.17
R8415:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8416:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8437:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8438:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8440:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8442:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8530:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8537:Uck1 UTSW 2 32,260,141 (GRCm38) unclassified probably benign
R8749:Uck1 UTSW 2 32,256,512 (GRCm38) missense
R9494:Uck1 UTSW 2 32,258,167 (GRCm38) nonsense probably null
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2015-10-08