Incidental Mutation 'IGL00087:Uck1'
ID 1904
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uck1
Ensembl Gene ENSMUSG00000002550
Gene Name uridine-cytidine kinase 1
Synonyms URK1
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00087
Quality Score
Status
Chromosome 2
Chromosomal Location 32145014-32150117 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 32149681 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 66 (V66D)
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: V66D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000002625
Gene: ENSMUSG00000002550
AA Change: V66D

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

DomainStartEndE-ValueType
Pfam:PRK 1 151 1e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142797
Coding Region Coverage
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: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930432M17Rik C A 3: 121,473,282 (GRCm39) probably benign Het
Actr2 C A 11: 20,044,370 (GRCm39) V79L probably benign Het
Ankrd36 A C 11: 5,570,131 (GRCm39) Y533S probably benign Het
Btnl1 A T 17: 34,600,091 (GRCm39) D198V probably damaging Het
Carmil2 T A 8: 106,418,038 (GRCm39) I684N probably benign Het
Cdk17 T A 10: 93,062,633 (GRCm39) V257D probably damaging Het
Ctsj T G 13: 61,149,232 (GRCm39) S271R possibly damaging Het
Cul9 T A 17: 46,836,635 (GRCm39) Q1130L probably damaging Het
Daam1 G T 12: 71,988,993 (GRCm39) S131I unknown Het
Dab1 G A 4: 104,536,007 (GRCm39) V139M probably damaging Het
Dab1 A T 4: 104,535,950 (GRCm39) I120F possibly damaging Het
Dnah2 A G 11: 69,383,498 (GRCm39) V1142A possibly damaging Het
Dsg1b C T 18: 20,529,533 (GRCm39) T326I probably damaging Het
Eif3k A C 7: 28,674,101 (GRCm39) probably benign Het
Fam76b T C 9: 13,748,180 (GRCm39) V3A possibly damaging Het
Fitm2 A G 2: 163,311,712 (GRCm39) V167A probably benign Het
Gfap T A 11: 102,779,544 (GRCm39) I418F possibly damaging Het
Grm5 T C 7: 87,779,989 (GRCm39) V1143A probably benign Het
Itpr2 A G 6: 146,298,510 (GRCm39) I317T probably damaging Het
Itprid1 T A 6: 55,945,022 (GRCm39) L581Q possibly damaging Het
Kcnn2 A C 18: 45,725,303 (GRCm39) R266S probably damaging Het
Kntc1 T A 5: 123,928,222 (GRCm39) S1240T probably benign Het
Lmnb2 T C 10: 80,739,871 (GRCm39) D490G possibly damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Or3a1b A T 11: 74,012,705 (GRCm39) I197F probably benign Het
Pax9 A G 12: 56,746,860 (GRCm39) N232S probably benign Het
Pdcd6ip A G 9: 113,526,586 (GRCm39) S108P possibly damaging Het
Pitpnc1 T C 11: 107,103,469 (GRCm39) E210G possibly damaging Het
Prdm10 T C 9: 31,272,108 (GRCm39) probably benign Het
Prl4a1 G A 13: 28,205,443 (GRCm39) G136E probably damaging Het
Pstpip2 A G 18: 77,961,994 (GRCm39) S255G probably benign Het
Rimbp3 T G 16: 17,027,607 (GRCm39) S344A probably benign Het
Rint1 A G 5: 23,999,429 (GRCm39) T73A probably benign Het
Rnf145 T C 11: 44,446,039 (GRCm39) V291A possibly damaging Het
Rrm1 T A 7: 102,103,714 (GRCm39) L221* probably null Het
Scn11a A G 9: 119,599,572 (GRCm39) L1114P probably benign Het
Slc44a4 A G 17: 35,149,216 (GRCm39) probably benign Het
Sorl1 A C 9: 41,885,390 (GRCm39) N2070K probably damaging Het
Spaca7 C T 8: 12,630,941 (GRCm39) probably benign Het
Speer1k C T 5: 10,997,805 (GRCm39) probably benign Het
Speer4c2 C A 5: 15,861,884 (GRCm39) probably benign Het
Srsf6 G T 2: 162,773,627 (GRCm39) V13F probably damaging Het
Stab1 G T 14: 30,883,314 (GRCm39) T336N probably benign Het
Strbp A G 2: 37,476,516 (GRCm39) probably benign Het
Tbc1d4 A G 14: 101,845,548 (GRCm39) F117L probably damaging Het
Tcf20 A G 15: 82,739,096 (GRCm39) V785A probably damaging Het
Ticrr A G 7: 79,327,031 (GRCm39) K580E probably damaging Het
Ubr4 A T 4: 139,192,633 (GRCm39) E4225D possibly damaging Het
Vmn2r25 A G 6: 123,830,130 (GRCm39) F7S probably benign Het
Zan C T 5: 137,386,082 (GRCm39) probably null Het
Zfp819 T A 7: 43,261,403 (GRCm39) probably benign Het
Other mutations in Uck1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
R7690:Uck1 UTSW 2 32,148,184 (GRCm39) missense probably benign 0.03
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
Posted On 2011-07-12