Incidental Mutation 'IGL02852:Ubqln4'
ID361920
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln4
Ensembl Gene ENSMUSG00000008604
Gene Nameubiquilin 4
SynonymsUBIN
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.259) question?
Stock #IGL02852
Quality Score
Status
Chromosome3
Chromosomal Location88553758-88569725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 88555471 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 81 (V81A)
Ref Sequence ENSEMBL: ENSMUSP00000008748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008748] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000192962]
PDB Structure
NMR structure of CIP75 UBA domain [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000008748
AA Change: V81A

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: V81A

DomainStartEndE-ValueType
UBQ 13 83 9.08e-17 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 130 149 N/A INTRINSIC
low complexity region 152 170 N/A INTRINSIC
low complexity region 176 185 N/A INTRINSIC
STI1 187 224 2.76e-6 SMART
STI1 225 256 2.39e-1 SMART
low complexity region 302 313 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
STI1 388 435 7.4e-7 SMART
STI1 439 471 3.21e1 SMART
low complexity region 528 539 N/A INTRINSIC
UBA 554 592 8.25e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029698
SMART Domains Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Robl_LC7 7 95 2.65e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119002
SMART Domains Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Blast:Robl_LC7 1 22 2e-8 BLAST
PDB:3CPT|B 1 52 2e-32 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145172
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156421
Predicted Effect noncoding transcript
Transcript: ENSMUST00000192687
Predicted Effect probably benign
Transcript: ENSMUST00000192962
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194303
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bcar1 A T 8: 111,715,347 L287* probably null Het
Birc3 A G 9: 7,854,483 I402T probably damaging Het
Btrc T A 19: 45,512,656 L153* probably null Het
C2cd3 T C 7: 100,430,189 F1245L probably damaging Het
Cabp7 C T 11: 4,738,912 R186H probably damaging Het
Cdk5r2 T C 1: 74,856,139 S348P probably benign Het
Clca3a2 T C 3: 144,806,343 D544G probably damaging Het
Col6a6 A C 9: 105,784,073 I279S probably damaging Het
Csmd1 T A 8: 15,895,728 T3562S probably damaging Het
Dgkd T C 1: 87,935,413 S61P probably damaging Het
Dph5 T A 3: 115,928,671 M266K possibly damaging Het
Gm14226 G A 2: 155,024,921 S266N possibly damaging Het
Gm28047 A G 15: 102,538,218 V400A possibly damaging Het
Gm4788 T C 1: 139,774,016 Y120C probably damaging Het
Gucy1a2 A G 9: 3,759,691 D499G probably benign Het
Hoxb7 C T 11: 96,289,494 T173M possibly damaging Het
Kcnn3 T A 3: 89,609,616 I444N probably damaging Het
Kif1b A G 4: 149,291,328 I27T probably damaging Het
Krtap8-1 A G 16: 89,487,865 Y15H probably benign Het
Myo18b C T 5: 112,715,511 V2154I probably benign Het
Pcdhb3 A G 18: 37,302,097 D372G probably damaging Het
Pfkp G T 13: 6,605,023 P340Q possibly damaging Het
Plcd3 C T 11: 103,073,805 R580Q probably damaging Het
Pou5f2 G A 13: 78,025,059 R40Q probably benign Het
Ppara G T 15: 85,797,878 M258I probably benign Het
Proc A G 18: 32,125,155 S246P probably damaging Het
Ptpn21 T C 12: 98,715,195 probably null Het
Ripor2 T C 13: 24,695,698 F383S probably damaging Het
Rnf39 T C 17: 36,945,202 probably benign Het
Sema6c C A 3: 95,169,984 probably benign Het
Slc16a5 A G 11: 115,469,579 E196G probably benign Het
Slco1c1 T A 6: 141,547,824 L313* probably null Het
Slit2 T C 5: 48,244,672 F789S probably damaging Het
Spta1 A G 1: 174,244,110 M2219V probably benign Het
Sqle A T 15: 59,326,071 H380L probably damaging Het
Tek T C 4: 94,855,324 Y859H probably damaging Het
Trcg1 A T 9: 57,241,312 T56S possibly damaging Het
Ttc23 T A 7: 67,667,155 probably benign Het
Ttn A G 2: 76,944,304 probably benign Het
Uba1y C T Y: 828,841 R550* probably null Het
Ugt2b38 C T 5: 87,411,741 E431K probably benign Het
Vmn1r85 T G 7: 13,085,083 I45L possibly damaging Het
Vmn2r68 T G 7: 85,233,387 S386R probably damaging Het
Washc4 A G 10: 83,583,309 T902A possibly damaging Het
Zc3h15 G A 2: 83,644,671 A7T possibly damaging Het
Zdhhc19 A C 16: 32,497,642 T72P probably damaging Het
Zfp729a A T 13: 67,619,951 S720T possibly damaging Het
Zfp729b T C 13: 67,592,823 K441R probably damaging Het
Zfy2 C T Y: 2,106,894 G580D probably benign Het
Zfy2 T A Y: 2,117,188 H213L probably benign Het
Other mutations in Ubqln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ubqln4 APN 3 88564501 missense probably benign 0.24
IGL01352:Ubqln4 APN 3 88564468 missense probably benign 0.32
IGL02821:Ubqln4 APN 3 88563151 missense probably benign
R0173:Ubqln4 UTSW 3 88555379 missense probably benign 0.00
R0372:Ubqln4 UTSW 3 88555969 missense probably benign
R1473:Ubqln4 UTSW 3 88565845 missense probably benign
R3688:Ubqln4 UTSW 3 88563159 missense probably damaging 0.97
R5423:Ubqln4 UTSW 3 88563199 missense probably damaging 0.99
R5592:Ubqln4 UTSW 3 88556864 missense probably damaging 0.98
R5688:Ubqln4 UTSW 3 88565268 missense probably damaging 1.00
R6809:Ubqln4 UTSW 3 88555372 missense possibly damaging 0.94
R7326:Ubqln4 UTSW 3 88555910 missense probably benign
R7572:Ubqln4 UTSW 3 88555424 unclassified probably benign
Z1177:Ubqln4 UTSW 3 88565720 missense probably benign
Posted On2015-12-18