Incidental Mutation 'R1674:Utp18'
ID 187928
Institutional Source Beutler Lab
Gene Symbol Utp18
Ensembl Gene ENSMUSG00000054079
Gene Name UTP18 small subunit processome component
Synonyms Wdr50, 6230425C22Rik
MMRRC Submission 039710-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.963) question?
Stock # R1674 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 93750069-93776592 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 93766879 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000068103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066888] [ENSMUST00000066888]
AlphaFold Q5SSI6
Predicted Effect probably null
Transcript: ENSMUST00000066888
SMART Domains Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079

DomainStartEndE-ValueType
low complexity region 43 64 N/A INTRINSIC
low complexity region 100 111 N/A INTRINSIC
low complexity region 139 146 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
WD40 236 275 7.4e0 SMART
WD40 280 320 3.08e0 SMART
Blast:WD40 325 365 4e-17 BLAST
WD40 368 406 2.23e-1 SMART
WD40 409 449 1.78e0 SMART
WD40 458 499 2.05e1 SMART
WD40 510 545 7.92e1 SMART
Predicted Effect probably null
Transcript: ENSMUST00000066888
SMART Domains Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079

DomainStartEndE-ValueType
low complexity region 43 64 N/A INTRINSIC
low complexity region 100 111 N/A INTRINSIC
low complexity region 139 146 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
WD40 236 275 7.4e0 SMART
WD40 280 320 3.08e0 SMART
Blast:WD40 325 365 4e-17 BLAST
WD40 368 406 2.23e-1 SMART
WD40 409 449 1.78e0 SMART
WD40 458 499 2.05e1 SMART
WD40 510 545 7.92e1 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130797
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134807
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.1%
Validation Efficiency 100% (91/91)
Allele List at MGI
Other mutations in this stock
Total: 89 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930579G24Rik A G 3: 79,538,451 (GRCm39) T66A probably benign Het
5430401F13Rik A T 6: 131,529,766 (GRCm39) Q120L unknown Het
Akirin1 A G 4: 123,637,256 (GRCm39) S110P possibly damaging Het
Ankmy2 T A 12: 36,237,668 (GRCm39) S256T probably benign Het
Areg T C 5: 91,291,485 (GRCm39) F143L probably damaging Het
Arhgap42 A G 9: 9,006,585 (GRCm39) S604P probably damaging Het
Arid1a A G 4: 133,416,571 (GRCm39) V1068A unknown Het
Arid4a G A 12: 71,122,112 (GRCm39) S509N probably benign Het
Atoh1 T G 6: 64,706,914 (GRCm39) I203S possibly damaging Het
Atp5mg T C 9: 44,825,957 (GRCm39) T69A possibly damaging Het
Baz1b A G 5: 135,233,965 (GRCm39) E164G probably damaging Het
Baz2b A T 2: 59,743,336 (GRCm39) V1545E possibly damaging Het
Best1 A G 19: 9,970,590 (GRCm39) probably null Het
Casp8 T A 1: 58,883,575 (GRCm39) I314N probably damaging Het
Ccdc13 T C 9: 121,638,208 (GRCm39) T26A probably damaging Het
Ccr6 A T 17: 8,475,049 (GRCm39) I85L probably damaging Het
Cdh10 A T 15: 18,985,152 (GRCm39) N272I probably benign Het
Cdh10 T A 15: 19,013,416 (GRCm39) I672K probably damaging Het
Cdk17 A T 10: 93,057,492 (GRCm39) E163V probably benign Het
Chsy1 T C 7: 65,821,411 (GRCm39) F549L probably damaging Het
CN725425 T C 15: 91,131,124 (GRCm39) Y420H possibly damaging Het
Cpt1b A T 15: 89,306,535 (GRCm39) M281K possibly damaging Het
Crlf2 A G 5: 109,706,669 (GRCm39) probably null Het
Ctif T C 18: 75,770,251 (GRCm39) T45A probably benign Het
Ddx31 T C 2: 28,748,828 (GRCm39) F252S probably damaging Het
Dennd2d T C 3: 106,399,833 (GRCm39) I242T probably benign Het
Dennd5b A G 6: 148,899,782 (GRCm39) F1205S probably damaging Het
Dop1a T C 9: 86,418,213 (GRCm39) S1981P probably damaging Het
Dsg1b A T 18: 20,532,578 (GRCm39) T541S probably benign Het
Dst T A 1: 34,262,876 (GRCm39) probably null Het
Dysf T C 6: 84,156,697 (GRCm39) V1508A probably benign Het
Erf A T 7: 24,944,731 (GRCm39) L200Q possibly damaging Het
Erich3 A G 3: 154,468,260 (GRCm39) probably benign Het
Esrrb C T 12: 86,561,225 (GRCm39) L320F probably damaging Het
Fap T A 2: 62,349,349 (GRCm39) D508V probably benign Het
Fdft1 A C 14: 63,402,034 (GRCm39) N48K probably benign Het
Fdps A G 3: 89,008,037 (GRCm39) V94A probably benign Het
Fes A T 7: 80,027,686 (GRCm39) H819Q probably benign Het
Foxd1 G T 13: 98,491,347 (GRCm39) D74Y unknown Het
Gm136 A T 4: 34,746,662 (GRCm39) probably benign Het
Gm5919 T A 9: 83,765,338 (GRCm39) L58* probably null Het
Gm6871 C T 7: 41,223,059 (GRCm39) V10I possibly damaging Het
Isy1 T C 6: 87,811,469 (GRCm39) R29G probably damaging Het
Kif16b T A 2: 142,554,873 (GRCm39) K653* probably null Het
Kif17 A G 4: 138,028,569 (GRCm39) T706A probably benign Het
Kif18b G T 11: 102,803,886 (GRCm39) P425T probably benign Het
Lama1 T A 17: 68,098,239 (GRCm39) V1812E probably benign Het
Lama5 A G 2: 179,843,780 (GRCm39) V430A probably benign Het
Lclat1 A G 17: 73,546,776 (GRCm39) E231G probably damaging Het
Lig4 T C 8: 10,021,692 (GRCm39) D696G probably benign Het
Mylpf T A 7: 126,813,309 (GRCm39) V151E probably damaging Het
Naa16 A T 14: 79,624,497 (GRCm39) M1K probably null Het
Ndufaf6 T C 4: 11,070,264 (GRCm39) K119R probably benign Het
Nt5c1b T C 12: 10,420,055 (GRCm39) probably benign Het
Or14a260 G A 7: 85,984,765 (GRCm39) P280S probably damaging Het
Or4a27 A G 2: 88,559,601 (GRCm39) V114A probably damaging Het
Or5t17 T C 2: 86,832,577 (GRCm39) V88A probably benign Het
Or8k33 T A 2: 86,384,204 (GRCm39) D88V probably damaging Het
Or9i16 T A 19: 13,864,954 (GRCm39) I207L probably benign Het
Otud4 A G 8: 80,399,776 (GRCm39) N830S probably benign Het
Pdcd10 A C 3: 75,448,486 (GRCm39) M26R probably damaging Het
Pitpnc1 A G 11: 107,117,071 (GRCm39) V223A possibly damaging Het
Pkp2 A G 16: 16,058,422 (GRCm39) D368G possibly damaging Het
Pla1a A T 16: 38,235,172 (GRCm39) M174K probably benign Het
Polr2b A G 5: 77,474,470 (GRCm39) K436E possibly damaging Het
Pwwp4a G T X: 72,171,261 (GRCm39) G218C probably damaging Het
Rdh16 A G 10: 127,637,226 (GRCm39) M54V probably benign Het
Sall2 C A 14: 52,551,293 (GRCm39) C632F probably damaging Het
Sart1 T A 19: 5,435,853 (GRCm39) I120F probably damaging Het
Slco1a1 A T 6: 141,881,661 (GRCm39) M157K probably damaging Het
Snapc4 T C 2: 26,266,209 (GRCm39) T178A probably benign Het
Sox6 T C 7: 115,400,654 (GRCm39) I63V probably benign Het
Spin1 T A 13: 51,303,135 (GRCm39) Y243N probably damaging Het
Stmnd1 T C 13: 46,453,097 (GRCm39) Y258H possibly damaging Het
Tex13b A T X: 139,710,819 (GRCm39) N184K probably benign Het
Tgm5 T C 2: 120,902,025 (GRCm39) T215A possibly damaging Het
Tnks2 A G 19: 36,849,022 (GRCm39) T165A probably benign Het
Top2a A T 11: 98,900,099 (GRCm39) F667Y probably damaging Het
Tpo T C 12: 30,150,567 (GRCm39) M438V probably benign Het
Tyw1 A G 5: 130,298,169 (GRCm39) R237G probably benign Het
Unc5c G A 3: 141,463,598 (GRCm39) V240I possibly damaging Het
Unc80 A C 1: 66,548,467 (GRCm39) T580P probably damaging Het
Upp2 G A 2: 58,680,076 (GRCm39) E301K probably benign Het
Vmn1r23 T C 6: 57,903,046 (GRCm39) D244G possibly damaging Het
Vps13c T A 9: 67,760,985 (GRCm39) L51* probably null Het
Xpnpep3 A G 15: 81,314,968 (GRCm39) T223A probably benign Het
Zfp28 T A 7: 6,397,942 (GRCm39) H792Q possibly damaging Het
Zfp804a A G 2: 82,089,168 (GRCm39) K999R probably benign Het
Zkscan16 G A 4: 58,948,918 (GRCm39) V158M possibly damaging Het
Other mutations in Utp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Utp18 APN 11 93,760,674 (GRCm39) missense possibly damaging 0.95
IGL02061:Utp18 APN 11 93,772,967 (GRCm39) missense probably benign 0.05
IGL02402:Utp18 APN 11 93,774,617 (GRCm39) unclassified probably benign
IGL02552:Utp18 APN 11 93,759,160 (GRCm39) missense probably damaging 0.97
IGL03086:Utp18 APN 11 93,766,882 (GRCm39) missense probably damaging 1.00
IGL03090:Utp18 APN 11 93,759,245 (GRCm39) missense probably damaging 1.00
IGL03281:Utp18 APN 11 93,766,784 (GRCm39) missense probably damaging 1.00
R0042:Utp18 UTSW 11 93,766,684 (GRCm39) missense probably damaging 0.99
R0281:Utp18 UTSW 11 93,773,003 (GRCm39) unclassified probably benign
R0399:Utp18 UTSW 11 93,770,973 (GRCm39) splice site probably benign
R0543:Utp18 UTSW 11 93,766,661 (GRCm39) missense probably damaging 1.00
R1512:Utp18 UTSW 11 93,776,390 (GRCm39) missense probably benign 0.00
R2013:Utp18 UTSW 11 93,766,948 (GRCm39) missense possibly damaging 0.91
R4426:Utp18 UTSW 11 93,757,264 (GRCm39) missense probably damaging 1.00
R4427:Utp18 UTSW 11 93,757,264 (GRCm39) missense probably damaging 1.00
R4455:Utp18 UTSW 11 93,776,273 (GRCm39) missense probably benign 0.09
R4458:Utp18 UTSW 11 93,761,359 (GRCm39) missense possibly damaging 0.92
R5085:Utp18 UTSW 11 93,761,363 (GRCm39) missense possibly damaging 0.78
R5297:Utp18 UTSW 11 93,766,915 (GRCm39) missense probably damaging 0.99
R5321:Utp18 UTSW 11 93,757,260 (GRCm39) missense probably damaging 1.00
R6006:Utp18 UTSW 11 93,776,449 (GRCm39) missense probably benign 0.00
R6845:Utp18 UTSW 11 93,776,582 (GRCm39) unclassified probably benign
R7211:Utp18 UTSW 11 93,776,206 (GRCm39) missense probably benign 0.01
R7330:Utp18 UTSW 11 93,772,899 (GRCm39) critical splice donor site probably null
R8193:Utp18 UTSW 11 93,766,903 (GRCm39) missense probably damaging 1.00
R9523:Utp18 UTSW 11 93,768,833 (GRCm39) missense probably damaging 1.00
RF015:Utp18 UTSW 11 93,776,287 (GRCm39) missense probably damaging 1.00
Z1177:Utp18 UTSW 11 93,766,647 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTTCTCCATTAGCACTGAAACAAGCC -3'
(R):5'- GTAGTAGTGACTTAACATGCCAGAGCC -3'

Sequencing Primer
(F):5'- GCCTTAAAGATTGGAAACTTCTCC -3'
(R):5'- tctcaaccttcctaatgctgtg -3'
Posted On 2014-05-09