Incidental Mutation 'IGL03271:Utp15'
ID415247
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Utp15
Ensembl Gene ENSMUSG00000041747
Gene NameUTP15 small subunit processome component
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.970) question?
Stock #IGL03271
Quality Score
Status
Chromosome13
Chromosomal Location98246845-98263041 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 98253694 bp
ZygosityHeterozygous
Amino Acid Change Valine to Phenylalanine at position 282 (V282F)
Ref Sequence ENSEMBL: ENSMUSP00000048204 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040972]
Predicted Effect probably damaging
Transcript: ENSMUST00000040972
AA Change: V282F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000048204
Gene: ENSMUSG00000041747
AA Change: V282F

DomainStartEndE-ValueType
WD40 31 66 6.85e1 SMART
WD40 69 108 1.66e-5 SMART
WD40 111 150 2.82e-8 SMART
WD40 153 193 7.33e-7 SMART
WD40 196 233 3.9e-2 SMART
WD40 237 276 1.39e-7 SMART
WD40 279 317 1.7e2 SMART
Pfam:UTP15_C 343 490 3.5e-50 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224842
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225100
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actbl2 G T 13: 111,255,874 V248L probably benign Het
Actl6b T A 5: 137,565,984 I256N probably damaging Het
Agl G T 3: 116,779,127 T825K probably benign Het
Arid5b A T 10: 68,097,457 S629T possibly damaging Het
Atp13a2 T C 4: 141,000,397 I495T possibly damaging Het
Bcl6 G T 16: 23,970,006 H537Q probably benign Het
Cdh12 A G 15: 21,586,453 E786G probably benign Het
Cep290 T A 10: 100,537,801 N1307K probably benign Het
Cops3 A T 11: 59,833,063 N89K probably damaging Het
Cyp4a29 T C 4: 115,254,508 V494A probably damaging Het
Dlg1 A G 16: 31,857,892 H675R possibly damaging Het
Dnajc6 T A 4: 101,508,077 probably benign Het
Dock10 C A 1: 80,505,409 K2107N probably damaging Het
Dopey1 T A 9: 86,504,222 L382* probably null Het
Faxc A C 4: 21,948,757 K156N possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
Gapvd1 C A 2: 34,727,207 probably benign Het
Gfm1 T C 3: 67,474,743 Y717H probably damaging Het
Gm4884 A T 7: 41,043,275 T223S probably benign Het
Gstm3 C A 3: 107,966,197 V153F possibly damaging Het
H2-M10.5 G T 17: 36,773,351 L68F possibly damaging Het
Hmcn1 G T 1: 150,598,424 H4756N possibly damaging Het
Ift140 C A 17: 25,087,906 R872S probably damaging Het
Lars2 T A 9: 123,459,484 probably null Het
Ltbp4 A G 7: 27,329,815 V149A unknown Het
Mpp2 A T 11: 102,063,423 probably benign Het
Mybbp1a A G 11: 72,443,918 probably benign Het
Nxpe4 C A 9: 48,393,045 P144Q probably damaging Het
Olfr1341 T A 4: 118,709,785 I126N probably damaging Het
Olfr478 C T 7: 108,031,507 V279M probably damaging Het
Parp4 C A 14: 56,585,625 N67K probably benign Het
Pdk1 G T 2: 71,880,030 probably benign Het
Phip A T 9: 82,884,824 probably benign Het
Pls1 A G 9: 95,776,830 S202P probably benign Het
Pmpcb A G 5: 21,738,876 Y36C probably benign Het
Pole T C 5: 110,318,319 S1296P probably benign Het
Ptpn13 T C 5: 103,462,148 S4P probably damaging Het
Scgb2b7 A T 7: 31,705,081 C65S probably damaging Het
Sec61a2 A T 2: 5,882,934 L79* probably null Het
Slc2a5 T C 4: 150,135,583 L152P probably damaging Het
Smu1 C T 4: 40,738,408 G442D probably benign Het
Spag16 T A 1: 69,853,352 N97K probably benign Het
Spag6l C T 16: 16,780,728 D300N probably damaging Het
Sult3a1 A G 10: 33,864,001 T19A probably benign Het
Ttll6 A G 11: 96,156,687 H704R probably benign Het
Uba1 T A X: 20,675,717 D569E probably damaging Het
Umodl1 T A 17: 30,986,499 Y689* probably null Het
Unc80 A G 1: 66,695,603 probably benign Het
Vmn1r184 A G 7: 26,267,609 Y260C probably benign Het
Vmn1r69 A G 7: 10,580,669 V45A probably benign Het
Vmn2r4 C A 3: 64,398,429 R524L probably benign Het
Other mutations in Utp15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02951:Utp15 APN 13 98257952 missense probably damaging 1.00
IGL02960:Utp15 APN 13 98252881 missense probably benign 0.30
R0125:Utp15 UTSW 13 98250882 missense possibly damaging 0.81
R0679:Utp15 UTSW 13 98259403 missense probably benign 0.13
R1447:Utp15 UTSW 13 98252878 missense possibly damaging 0.68
R1618:Utp15 UTSW 13 98257187 missense probably benign 0.16
R1992:Utp15 UTSW 13 98250912 missense probably benign
R2110:Utp15 UTSW 13 98254985 missense probably damaging 1.00
R2263:Utp15 UTSW 13 98257925 missense probably benign 0.03
R3888:Utp15 UTSW 13 98259166 missense probably benign 0.00
R4355:Utp15 UTSW 13 98259247 missense possibly damaging 0.48
R5436:Utp15 UTSW 13 98260846 unclassified probably null
R5568:Utp15 UTSW 13 98257925 missense probably benign 0.03
R6489:Utp15 UTSW 13 98250609 missense probably damaging 0.96
R8116:Utp15 UTSW 13 98250863 missense probably benign
Posted On2016-08-02