Incidental Mutation 'IGL01645:Usp47'
ID102632
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Usp47
Ensembl Gene ENSMUSG00000059263
Gene Nameubiquitin specific peptidase 47
SynonymsA630020C16Rik, 4930502N04Rik
Accession Numbers

Genbank: NM_133758; MGI: 1922246

Is this an essential gene? Probably essential (E-score: 0.753) question?
Stock #IGL01645
Quality Score
Status
Chromosome7
Chromosomal Location112023504-112111661 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 112054862 bp
ZygosityHeterozygous
Amino Acid Change Serine to Arginine at position 108 (S108R)
Ref Sequence ENSEMBL: ENSMUSP00000147619 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000106653] [ENSMUST00000210309] [ENSMUST00000215510]
Predicted Effect possibly damaging
Transcript: ENSMUST00000106653
AA Change: S88R

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000102264
Gene: ENSMUSG00000059263
AA Change: S88R

DomainStartEndE-ValueType
Pfam:UCH 167 541 1.2e-50 PFAM
Pfam:UCH_1 168 507 5.1e-31 PFAM
coiled coil region 554 586 N/A INTRINSIC
low complexity region 859 880 N/A INTRINSIC
low complexity region 934 950 N/A INTRINSIC
Pfam:Ubiquitin_2 1026 1095 1.9e-3 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000210309
AA Change: S108R

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000210591
Predicted Effect noncoding transcript
Transcript: ENSMUST00000211791
Predicted Effect possibly damaging
Transcript: ENSMUST00000215510
AA Change: S88R

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mouse embryonic fibroblasts from mice homozygous for a gene trap allele exhibit increased sensitivity to UV irradiation. [provided by MGI curators]
Allele List at MGI

All alleles(10) : Gene trapped(10)

Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
3632451O06Rik T C 14: 49,773,554 E232G probably damaging Het
Abcc8 C T 7: 46,115,053 C1156Y possibly damaging Het
Armc4 T C 18: 7,268,491 S343G probably benign Het
Atp8b1 G A 18: 64,546,113 H766Y probably benign Het
BC030867 T C 11: 102,255,186 L96P probably damaging Het
Cacna2d1 C A 5: 16,012,391 probably null Het
Card11 T A 5: 140,878,023 T987S probably benign Het
Dmxl2 A T 9: 54,378,733 Y2723N possibly damaging Het
Dnah11 T A 12: 118,186,998 I342F possibly damaging Het
Dnajc10 A G 2: 80,340,527 H454R possibly damaging Het
Dpy19l3 T C 7: 35,695,338 T592A probably benign Het
Eea1 T A 10: 95,989,589 S49T probably damaging Het
Esd T A 14: 74,749,719 N294K probably benign Het
Fmo3 A G 1: 162,964,006 V234A possibly damaging Het
Folh1 A G 7: 86,742,227 F420L probably damaging Het
Gabra1 T C 11: 42,135,562 N301S probably damaging Het
Gm5422 A T 10: 31,250,073 noncoding transcript Het
Gorab A T 1: 163,386,431 L310Q possibly damaging Het
Gsdme A G 6: 50,251,336 Y51H probably damaging Het
Itpr1 T C 6: 108,473,599 I1964T possibly damaging Het
Lmbr1 A G 5: 29,235,055 L410P probably damaging Het
Lrrc37a T C 11: 103,504,264 R112G probably benign Het
Mrgpra6 T C 7: 47,185,933 T247A probably benign Het
Mroh4 A G 15: 74,611,358 probably benign Het
Mycbpap T C 11: 94,503,467 probably null Het
Myoz2 T A 3: 123,034,232 K12N probably damaging Het
Olfr412 T C 11: 74,365,533 I288T possibly damaging Het
P3h1 T G 4: 119,236,783 F212V probably damaging Het
Pcnx2 T C 8: 125,887,917 D265G probably damaging Het
Pkd1l3 C T 8: 109,635,302 T992I possibly damaging Het
Prss58 T C 6: 40,897,310 D144G probably damaging Het
Pth2 T A 7: 45,181,340 L29Q possibly damaging Het
Rab1b A C 19: 5,104,934 probably benign Het
Rasa2 A T 9: 96,582,781 C190* probably null Het
Scn9a T C 2: 66,487,642 K1501E possibly damaging Het
Selenoi A G 5: 30,257,823 probably benign Het
Slc11a2 T C 15: 100,389,118 N558S probably benign Het
Sox10 T C 15: 79,156,339 I173V probably benign Het
Sra1 A C 18: 36,671,473 F476C probably damaging Het
St5 T A 7: 109,527,634 K540* probably null Het
Tmem119 T A 5: 113,795,348 K131* probably null Het
Trim12c T A 7: 104,345,054 K198* probably null Het
Ttn A G 2: 76,851,560 probably benign Het
Unc119b C T 5: 115,127,312 V154I probably benign Het
Vmn1r15 T A 6: 57,258,562 C138* probably null Het
Vmn1r191 T C 13: 22,179,444 I47V probably benign Het
Wnt3 C T 11: 103,812,378 A229V probably benign Het
Other mutations in Usp47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00481:Usp47 APN 7 112074783 missense probably benign 0.00
IGL00574:Usp47 APN 7 112063335 missense probably damaging 1.00
IGL00975:Usp47 APN 7 112093370 missense probably damaging 1.00
IGL01289:Usp47 APN 7 112063358 missense probably damaging 1.00
IGL01419:Usp47 APN 7 112087911 missense possibly damaging 0.94
IGL01871:Usp47 APN 7 112077786 splice site probably benign
IGL02066:Usp47 APN 7 112064397 missense probably damaging 1.00
IGL02122:Usp47 APN 7 112106908 missense probably damaging 0.97
IGL02153:Usp47 APN 7 112104049 missense probably benign 0.00
IGL02550:Usp47 APN 7 112104354 missense probably damaging 1.00
IGL02710:Usp47 APN 7 112092925 missense probably benign 0.01
IGL02756:Usp47 APN 7 112093063 missense possibly damaging 0.76
IGL03093:Usp47 APN 7 112089620 missense probably damaging 1.00
IGL03398:Usp47 APN 7 112074503 missense probably damaging 1.00
0152:Usp47 UTSW 7 112056577 missense probably damaging 0.96
PIT4142001:Usp47 UTSW 7 112104341 splice site probably benign
R0110:Usp47 UTSW 7 112056580 missense possibly damaging 0.88
R0381:Usp47 UTSW 7 112063393 critical splice donor site probably null
R0450:Usp47 UTSW 7 112056580 missense possibly damaging 0.88
R0634:Usp47 UTSW 7 112108655 missense probably damaging 1.00
R0881:Usp47 UTSW 7 112091436 missense possibly damaging 0.51
R1178:Usp47 UTSW 7 112109998 missense possibly damaging 0.68
R1447:Usp47 UTSW 7 112074568 critical splice donor site probably null
R1640:Usp47 UTSW 7 112083127 missense probably damaging 0.99
R1727:Usp47 UTSW 7 112086100 missense probably damaging 0.96
R1866:Usp47 UTSW 7 112101870 missense possibly damaging 0.93
R1876:Usp47 UTSW 7 112054920 missense probably damaging 0.99
R1953:Usp47 UTSW 7 112092876 missense probably benign 0.26
R2117:Usp47 UTSW 7 112067236 critical splice donor site probably null
R2176:Usp47 UTSW 7 112092727 missense probably benign 0.00
R2187:Usp47 UTSW 7 112067191 missense probably damaging 1.00
R2504:Usp47 UTSW 7 112104470 critical splice donor site probably null
R2902:Usp47 UTSW 7 112093451 missense probably damaging 1.00
R2922:Usp47 UTSW 7 112093198 missense probably damaging 1.00
R2939:Usp47 UTSW 7 112082536 missense probably damaging 1.00
R4065:Usp47 UTSW 7 112053416 missense probably benign 0.30
R4179:Usp47 UTSW 7 112087884 missense probably damaging 1.00
R4235:Usp47 UTSW 7 112110048 missense probably damaging 0.99
R4243:Usp47 UTSW 7 112108629 missense probably damaging 1.00
R4281:Usp47 UTSW 7 112109993 missense probably benign 0.03
R4360:Usp47 UTSW 7 112054932 missense probably damaging 1.00
R4604:Usp47 UTSW 7 112101831 missense probably damaging 1.00
R4857:Usp47 UTSW 7 112082552 missense probably damaging 1.00
R5133:Usp47 UTSW 7 112083882 missense probably damaging 1.00
R5179:Usp47 UTSW 7 112093432 missense probably damaging 1.00
R5322:Usp47 UTSW 7 112053269 missense probably damaging 0.99
R5445:Usp47 UTSW 7 112074721 missense probably damaging 1.00
R5465:Usp47 UTSW 7 112059002 missense probably damaging 1.00
R5699:Usp47 UTSW 7 112109997 missense probably benign 0.00
R5961:Usp47 UTSW 7 112053316 missense probably damaging 1.00
R6117:Usp47 UTSW 7 112087932 missense probably damaging 0.98
R6271:Usp47 UTSW 7 112087056 missense probably damaging 1.00
R7155:Usp47 UTSW 7 112087013 missense probably damaging 0.97
R7229:Usp47 UTSW 7 112092877 missense probably benign 0.04
R7285:Usp47 UTSW 7 112093108 missense probably benign 0.02
X0027:Usp47 UTSW 7 112087847 missense probably damaging 1.00
Posted On2014-01-21