Incidental Mutation 'IGL02686:Uhrf1bp1l'
ID303571
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Uhrf1bp1l
Ensembl Gene ENSMUSG00000019951
Gene NameUHRF1 (ICBP90) binding protein 1-like
Synonyms4930506D01Rik, E030041M21Rik, 2010319N22Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.251) question?
Stock #IGL02686
Quality Score
Status
Chromosome10
Chromosomal Location89744991-89819871 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 89805193 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Leucine at position 742 (Q742L)
Ref Sequence ENSEMBL: ENSMUSP00000020112 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020112] [ENSMUST00000218607] [ENSMUST00000220375]
Predicted Effect probably benign
Transcript: ENSMUST00000020112
AA Change: Q742L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000020112
Gene: ENSMUSG00000019951
AA Change: Q742L

DomainStartEndE-ValueType
Pfam:Chorein_N 1 103 9.3e-21 PFAM
SCOP:d1c52__ 243 304 5e-3 SMART
low complexity region 788 801 N/A INTRINSIC
low complexity region 862 872 N/A INTRINSIC
coiled coil region 1410 1455 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000218607
Predicted Effect probably benign
Transcript: ENSMUST00000218776
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219117
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219749
Predicted Effect probably benign
Transcript: ENSMUST00000220375
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
Uhrf1bp1 T C 17: 27,894,589 I1245T 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 Uhrf1bp1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Uhrf1bp1l APN 10 89779984 missense probably damaging 1.00
IGL01102:Uhrf1bp1l APN 10 89791378 missense probably benign 0.00
IGL01457:Uhrf1bp1l APN 10 89805762 missense probably benign 0.06
IGL01647:Uhrf1bp1l APN 10 89774120 critical splice donor site probably null
IGL02552:Uhrf1bp1l APN 10 89806743 nonsense probably null
R0019:Uhrf1bp1l UTSW 10 89775969 missense probably damaging 1.00
R0505:Uhrf1bp1l UTSW 10 89791443 missense probably damaging 1.00
R0746:Uhrf1bp1l UTSW 10 89805454 missense probably benign 0.37
R1255:Uhrf1bp1l UTSW 10 89745270 missense probably damaging 0.98
R1385:Uhrf1bp1l UTSW 10 89790641 missense possibly damaging 0.92
R1720:Uhrf1bp1l UTSW 10 89782586 missense probably damaging 1.00
R2142:Uhrf1bp1l UTSW 10 89812048 missense probably damaging 1.00
R2312:Uhrf1bp1l UTSW 10 89781133 missense probably damaging 0.99
R2986:Uhrf1bp1l UTSW 10 89806069 missense probably benign 0.00
R4063:Uhrf1bp1l UTSW 10 89816055 missense probably benign 0.38
R4278:Uhrf1bp1l UTSW 10 89806709 unclassified probably null
R4854:Uhrf1bp1l UTSW 10 89794484 missense probably damaging 1.00
R4857:Uhrf1bp1l UTSW 10 89779963 missense probably damaging 0.97
R5135:Uhrf1bp1l UTSW 10 89789355 missense probably damaging 1.00
R5467:Uhrf1bp1l UTSW 10 89805099 missense probably damaging 1.00
R5567:Uhrf1bp1l UTSW 10 89808521 missense probably benign 0.18
R5767:Uhrf1bp1l UTSW 10 89787199 missense possibly damaging 0.68
R6191:Uhrf1bp1l UTSW 10 89805318 missense possibly damaging 0.78
R6196:Uhrf1bp1l UTSW 10 89805333 missense probably benign 0.00
R6387:Uhrf1bp1l UTSW 10 89803057 nonsense probably null
R6729:Uhrf1bp1l UTSW 10 89805684 missense probably benign 0.01
R6746:Uhrf1bp1l UTSW 10 89787158 missense probably benign 0.19
R6794:Uhrf1bp1l UTSW 10 89805762 missense probably benign 0.06
R6892:Uhrf1bp1l UTSW 10 89805123 missense probably benign 0.02
R6990:Uhrf1bp1l UTSW 10 89806117 missense probably benign 0.12
R7188:Uhrf1bp1l UTSW 10 89779882 missense probably damaging 0.96
R7226:Uhrf1bp1l UTSW 10 89808641 missense probably benign 0.00
X0060:Uhrf1bp1l UTSW 10 89805379 missense probably damaging 0.98
Posted On2015-04-16