Incidental Mutation 'IGL03086:Utp18'
ID418109
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp18
Ensembl Gene ENSMUSG00000054079
Gene NameUTP18 small subunit processome component
Synonyms6230425C22Rik, Wdr50
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.957) question?
Stock #IGL03086
Quality Score
Status
Chromosome11
Chromosomal Location93859243-93885766 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 93876056 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 275 (Q275R)
Ref Sequence ENSEMBL: ENSMUSP00000068103 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066888]
Predicted Effect probably damaging
Transcript: ENSMUST00000066888
AA Change: Q275R

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000068103
Gene: ENSMUSG00000054079
AA Change: Q275R

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankar A G 1: 72,643,278 I1158T possibly damaging Het
Ankrd11 A G 8: 122,894,510 S868P probably damaging Het
Atad3a C T 4: 155,748,670 probably null Het
Cadm4 A T 7: 24,500,815 N250Y probably damaging Het
Cd300c2 T C 11: 115,000,823 E75G possibly damaging Het
Cdc23 A C 18: 34,637,186 probably benign Het
Cep97 A G 16: 55,915,296 S380P probably benign Het
Ckap5 T A 2: 91,570,276 probably benign Het
Col6a4 A T 9: 106,082,862 probably benign Het
Dclk1 G A 3: 55,247,367 V73M probably damaging Het
Dnah8 T C 17: 30,742,780 L2297P probably damaging Het
Eif2a A G 3: 58,541,117 I124V probably benign Het
Fam227b A T 2: 126,119,031 I226K probably benign Het
Fcgr1 G T 3: 96,284,498 Y331* probably null Het
Helq T C 5: 100,796,927 T106A possibly damaging Het
Ly9 A T 1: 171,605,170 Y92N probably benign Het
Myom1 G A 17: 71,108,671 C1256Y probably damaging Het
Ndc80 G A 17: 71,520,925 T104I probably benign Het
Olfr1389 A G 11: 49,430,805 T110A probably benign Het
Olfr513 A T 7: 108,755,796 probably benign Het
Olfr54 T A 11: 51,027,730 C243S probably damaging Het
Olfr570 T C 7: 102,900,406 F13S probably damaging Het
Phtf2 T C 5: 20,764,275 N679S probably damaging Het
Polq G A 16: 37,091,049 R2382K probably benign Het
Recql4 C T 15: 76,706,268 R672Q probably benign Het
Selenbp2 A G 3: 94,699,638 N197S probably damaging Het
Sirpb1a C A 3: 15,426,328 probably null Het
Slc12a2 T A 18: 57,921,784 D832E probably benign Het
Slc13a1 G A 6: 24,118,003 A245V probably damaging Het
Unc80 A G 1: 66,509,474 D635G probably damaging Het
Wdr35 A G 12: 9,008,692 probably null Het
Zfyve26 A G 12: 79,295,564 V36A probably damaging Het
Other mutations in Utp18
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01070:Utp18 APN 11 93869848 missense possibly damaging 0.95
IGL02061:Utp18 APN 11 93882141 missense probably benign 0.05
IGL02402:Utp18 APN 11 93883791 unclassified probably benign
IGL02552:Utp18 APN 11 93868334 missense probably damaging 0.97
IGL03090:Utp18 APN 11 93868419 missense probably damaging 1.00
IGL03281:Utp18 APN 11 93875958 missense probably damaging 1.00
R0042:Utp18 UTSW 11 93875858 missense probably damaging 0.99
R0281:Utp18 UTSW 11 93882177 unclassified probably benign
R0399:Utp18 UTSW 11 93880147 splice site probably benign
R0543:Utp18 UTSW 11 93875835 missense probably damaging 1.00
R1512:Utp18 UTSW 11 93885564 missense probably benign 0.00
R1674:Utp18 UTSW 11 93876053 critical splice donor site probably null
R2013:Utp18 UTSW 11 93876122 missense possibly damaging 0.91
R4426:Utp18 UTSW 11 93866438 missense probably damaging 1.00
R4427:Utp18 UTSW 11 93866438 missense probably damaging 1.00
R4455:Utp18 UTSW 11 93885447 missense probably benign 0.09
R4458:Utp18 UTSW 11 93870533 missense possibly damaging 0.92
R5085:Utp18 UTSW 11 93870537 missense possibly damaging 0.78
R5297:Utp18 UTSW 11 93876089 missense probably damaging 0.99
R5321:Utp18 UTSW 11 93866434 missense probably damaging 1.00
R6006:Utp18 UTSW 11 93885623 missense probably benign 0.00
R6845:Utp18 UTSW 11 93885756 unclassified probably benign
R7211:Utp18 UTSW 11 93885380 missense probably benign 0.01
R7330:Utp18 UTSW 11 93882073 critical splice donor site probably null
R8193:Utp18 UTSW 11 93876077 missense probably damaging 1.00
RF015:Utp18 UTSW 11 93885461 missense probably damaging 1.00
Z1177:Utp18 UTSW 11 93875821 missense probably damaging 1.00
Posted On2016-08-02