Incidental Mutation 'IGL02686:Uhrf1bp1'
ID303560
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uhrf1bp1
Ensembl Gene ENSMUSG00000039512
Gene NameUHRF1 (ICBP90) binding protein 1
Synonyms1110020K19Rik, F830021D11Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02686
Quality Score
Status
Chromosome17
Chromosomal Location27856490-27900040 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 27894589 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 1245 (I1245T)
Ref Sequence ENSEMBL: ENSMUSP00000110499 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000114849]
Predicted Effect probably benign
Transcript: ENSMUST00000114849
AA Change: I1245T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000110499
Gene: ENSMUSG00000039512
AA Change: I1245T

DomainStartEndE-ValueType
Pfam:Chorein_N 1 104 2.6e-18 PFAM
low complexity region 234 247 N/A INTRINSIC
low complexity region 297 306 N/A INTRINSIC
low complexity region 1128 1144 N/A INTRINSIC
low complexity region 1200 1216 N/A INTRINSIC
low complexity region 1322 1333 N/A INTRINSIC
low complexity region 1375 1386 N/A INTRINSIC
coiled coil region 1394 1424 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137825
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam4 C T 12: 81,421,674 G58S possibly damaging Het
Adcyap1r1 G A 6: 55,481,125 A304T probably benign Het
Adipoq A G 16: 23,157,115 T110A possibly damaging Het
Ago2 T C 15: 73,113,742 Y668C possibly damaging Het
Ampd2 A T 3: 108,076,495 D575E possibly damaging Het
Anxa5 C T 3: 36,449,355 E317K probably benign Het
Atf2 A T 2: 73,845,500 M169K possibly damaging Het
Bicc1 C A 10: 70,943,360 probably benign Het
Bicra A G 7: 15,987,915 M559T probably benign Het
Cacna1e G A 1: 154,493,409 A294V probably damaging Het
Cacna1h G A 17: 25,385,749 P1197S possibly damaging Het
Cmya5 G A 13: 93,090,997 Q2528* probably null Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cts8 T C 13: 61,250,970 T241A probably benign Het
Cubn T C 2: 13,325,226 I2615V possibly damaging Het
Cxcl12 A G 6: 117,173,585 probably benign Het
Fig4 T C 10: 41,264,004 D307G probably damaging Het
Flt1 T C 5: 147,588,602 I909V probably damaging Het
Foxk1 T A 5: 142,453,585 S427T probably damaging Het
Gosr1 G A 11: 76,750,862 T130M probably benign Het
Grik1 G T 16: 88,009,761 probably null Het
Hipk1 C T 3: 103,778,017 S94N possibly damaging Het
Ints7 T C 1: 191,586,592 L147P probably damaging Het
Nsd3 A G 8: 25,666,070 D551G probably damaging Het
Olfr510 A T 7: 108,667,886 I157F probably benign Het
Olfr741 G A 14: 50,485,969 M170I probably benign Het
Prrc2c T C 1: 162,707,947 probably benign Het
Ren1 A T 1: 133,358,469 N250I possibly damaging Het
Ripply2 A C 9: 87,015,956 probably benign Het
Ryr1 G T 7: 29,069,550 probably benign Het
Smad3 T A 9: 63,667,782 K51M probably damaging Het
Snapc1 C A 12: 73,964,596 probably benign Het
Srfbp1 T G 18: 52,475,654 V42G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tab1 T C 15: 80,148,830 V105A probably benign Het
Tat T C 8: 109,996,849 V323A probably damaging Het
Tdo2 T C 3: 81,968,155 N164S probably benign Het
Tefm T A 11: 80,136,896 L345F probably damaging Het
Tmem145 C A 7: 25,314,725 N407K probably damaging Het
Uhrf1bp1l A T 10: 89,805,193 Q742L probably benign Het
Vmn2r116 A G 17: 23,388,793 N445S probably damaging Het
Vmn2r20 A G 6: 123,385,626 M733T probably benign Het
Vmn2r93 G A 17: 18,313,264 V477M possibly damaging Het
Zdhhc4 A G 5: 143,320,391 F194S probably damaging Het
Zfp738 A T 13: 67,673,652 S25T probably damaging Het
Other mutations in Uhrf1bp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00675:Uhrf1bp1 APN 17 27876917 splice site probably benign
IGL00786:Uhrf1bp1 APN 17 27879292 missense probably damaging 0.99
IGL01074:Uhrf1bp1 APN 17 27879291 missense possibly damaging 0.94
IGL01780:Uhrf1bp1 APN 17 27893500 missense probably damaging 1.00
IGL02668:Uhrf1bp1 APN 17 27886575 missense possibly damaging 0.53
IGL03240:Uhrf1bp1 APN 17 27893253 missense probably benign 0.37
hades UTSW 17 27894746 missense probably damaging 1.00
R0167:Uhrf1bp1 UTSW 17 27880202 missense possibly damaging 0.46
R0240:Uhrf1bp1 UTSW 17 27895870 splice site probably benign
R0332:Uhrf1bp1 UTSW 17 27893294 critical splice donor site probably null
R0668:Uhrf1bp1 UTSW 17 27895939 missense probably benign 0.16
R0726:Uhrf1bp1 UTSW 17 27885489 missense possibly damaging 0.50
R0964:Uhrf1bp1 UTSW 17 27887178 missense probably damaging 0.96
R1125:Uhrf1bp1 UTSW 17 27893449 missense probably damaging 1.00
R1139:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R1164:Uhrf1bp1 UTSW 17 27895380 critical splice donor site probably null
R1192:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R1277:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R1279:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R1340:Uhrf1bp1 UTSW 17 27894721 missense probably benign 0.00
R1341:Uhrf1bp1 UTSW 17 27877419 splice site probably benign
R1344:Uhrf1bp1 UTSW 17 27894577 missense probably benign 0.41
R1418:Uhrf1bp1 UTSW 17 27894577 missense probably benign 0.41
R1552:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R1726:Uhrf1bp1 UTSW 17 27886251 splice site probably null
R1791:Uhrf1bp1 UTSW 17 27894746 missense probably damaging 1.00
R1796:Uhrf1bp1 UTSW 17 27890071 missense possibly damaging 0.87
R2858:Uhrf1bp1 UTSW 17 27885462 missense probably damaging 0.99
R3034:Uhrf1bp1 UTSW 17 27894746 missense probably damaging 1.00
R4111:Uhrf1bp1 UTSW 17 27886090 nonsense probably null
R4159:Uhrf1bp1 UTSW 17 27884087 missense probably damaging 1.00
R4160:Uhrf1bp1 UTSW 17 27884087 missense probably damaging 1.00
R4161:Uhrf1bp1 UTSW 17 27884087 missense probably damaging 1.00
R4431:Uhrf1bp1 UTSW 17 27885931 missense probably damaging 1.00
R4575:Uhrf1bp1 UTSW 17 27887503 missense probably benign 0.02
R4657:Uhrf1bp1 UTSW 17 27890105 missense probably benign 0.09
R4666:Uhrf1bp1 UTSW 17 27893503 missense possibly damaging 0.95
R4825:Uhrf1bp1 UTSW 17 27877394 missense probably damaging 0.98
R4872:Uhrf1bp1 UTSW 17 27890136 missense probably benign 0.10
R4956:Uhrf1bp1 UTSW 17 27889984 intron probably null
R4976:Uhrf1bp1 UTSW 17 27884026 missense probably damaging 0.99
R4982:Uhrf1bp1 UTSW 17 27886606 missense probably benign 0.05
R5017:Uhrf1bp1 UTSW 17 27894739 nonsense probably null
R5033:Uhrf1bp1 UTSW 17 27886864 missense probably damaging 0.99
R5137:Uhrf1bp1 UTSW 17 27876990 intron probably null
R5159:Uhrf1bp1 UTSW 17 27881556 missense probably damaging 0.98
R5177:Uhrf1bp1 UTSW 17 27885018 missense possibly damaging 0.94
R5196:Uhrf1bp1 UTSW 17 27856763 missense probably benign 0.09
R5214:Uhrf1bp1 UTSW 17 27887515 missense probably benign
R5352:Uhrf1bp1 UTSW 17 27887515 missense probably benign
R5354:Uhrf1bp1 UTSW 17 27887515 missense probably benign
R5425:Uhrf1bp1 UTSW 17 27887515 missense probably benign
R5601:Uhrf1bp1 UTSW 17 27884494 missense probably damaging 1.00
R6080:Uhrf1bp1 UTSW 17 27880297 missense probably benign
R6088:Uhrf1bp1 UTSW 17 27884605 critical splice donor site probably null
R6331:Uhrf1bp1 UTSW 17 27893201 missense probably benign 0.01
R6529:Uhrf1bp1 UTSW 17 27879776 missense possibly damaging 0.90
R6614:Uhrf1bp1 UTSW 17 27876925 missense probably benign 0.18
R6701:Uhrf1bp1 UTSW 17 27887357 nonsense probably null
R7082:Uhrf1bp1 UTSW 17 27890065 missense probably damaging 1.00
X0017:Uhrf1bp1 UTSW 17 27877341 missense probably benign 0.03
Posted On2015-04-16