Incidental Mutation 'IGL02690:Ubxn7'
ID303700
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn7
Ensembl Gene ENSMUSG00000053774
Gene NameUBX domain protein 7
SynonymsUbxd7
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02690
Quality Score
Status
Chromosome16
Chromosomal Location32332257-32393747 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 32381605 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 371 (E371G)
Ref Sequence ENSEMBL: ENSMUSP00000156376 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000115151] [ENSMUST00000232137]
Predicted Effect probably benign
Transcript: ENSMUST00000115151
AA Change: E393G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000110804
Gene: ENSMUSG00000053774
AA Change: E393G

DomainStartEndE-ValueType
low complexity region 2 12 N/A INTRINSIC
Pfam:UBA_4 15 56 4.3e-15 PFAM
UAS 137 260 3.05e-50 SMART
low complexity region 312 328 N/A INTRINSIC
UBX 405 487 1.16e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000232137
AA Change: E371G

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T C 17: 57,480,921 V896A probably damaging Het
Ahnak C A 19: 9,012,584 S3744* probably null Het
Aldh7a1 A G 18: 56,528,355 probably benign Het
Ankk1 T A 9: 49,421,900 I95F probably damaging Het
Borcs8 C A 8: 70,165,088 A32D probably damaging Het
Cdh1 T A 8: 106,657,884 I328N probably damaging Het
Cebpz C T 17: 78,922,557 D856N probably damaging Het
Clip2 T A 5: 134,510,159 probably benign Het
Dock7 C A 4: 98,969,635 V1451F possibly damaging Het
Edem3 T G 1: 151,804,799 C558W probably damaging Het
Eif3f T C 7: 108,934,718 V96A probably damaging Het
Gen1 A G 12: 11,241,575 S738P probably damaging Het
Gm12666 T A 4: 92,191,011 D191V probably damaging Het
Gm8906 C T 5: 11,505,261 Q66* probably null Het
Ipo8 A T 6: 148,777,363 S912R probably benign Het
Kcp G T 6: 29,484,999 probably benign Het
Lrrfip1 A G 1: 91,053,661 T2A probably damaging Het
Lyst A G 13: 13,641,125 E1198G possibly damaging Het
Maml1 A G 11: 50,258,630 L761P probably damaging Het
Mon2 T A 10: 123,009,627 E1392V possibly damaging Het
Nol12 A G 15: 78,937,174 E78G probably damaging Het
Nov A G 15: 54,747,802 Y111C probably damaging Het
Olfr156 G A 4: 43,821,190 T57M possibly damaging Het
Olfr181 G A 16: 58,925,851 T240I possibly damaging Het
Papd7 T A 13: 69,510,625 M364L probably benign Het
Rag2 A T 2: 101,629,494 I50L probably benign Het
Rasgrf2 T C 13: 92,030,765 N267D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rsc1a1 A T 4: 141,685,301 V100D probably damaging Het
Rtp1 T C 16: 23,431,382 Y166H probably damaging Het
Scly A T 1: 91,305,325 T109S probably benign Het
Scn8a A T 15: 100,970,254 S327C probably damaging Het
Sgsm1 T C 5: 113,286,767 probably benign Het
Slc4a9 A G 18: 36,531,987 Y463C probably damaging Het
Sptan1 A G 2: 29,998,183 M936V possibly damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Tbx20 T A 9: 24,773,737 N37Y probably benign Het
Tex14 C T 11: 87,486,274 T148I probably benign Het
Ugt2b35 T C 5: 87,001,237 F116L probably benign Het
Vmn2r111 C T 17: 22,559,042 probably null Het
Vmn2r26 T C 6: 124,026,132 L167P probably benign Het
Vps13b T C 15: 35,917,142 W3711R probably damaging Het
Wdr5 A T 2: 27,534,828 T326S probably benign Het
Other mutations in Ubxn7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00821:Ubxn7 APN 16 32369398 missense probably damaging 0.97
IGL02149:Ubxn7 APN 16 32375270 missense probably damaging 1.00
IGL02183:Ubxn7 APN 16 32369383 missense probably damaging 1.00
IGL03133:Ubxn7 APN 16 32381781 missense probably damaging 1.00
R0268:Ubxn7 UTSW 16 32360046 missense probably benign 0.05
R0583:Ubxn7 UTSW 16 32375914 missense probably damaging 1.00
R0635:Ubxn7 UTSW 16 32367417 intron probably benign
R0787:Ubxn7 UTSW 16 32381763 splice site probably benign
R1658:Ubxn7 UTSW 16 32381236 intron probably null
R1916:Ubxn7 UTSW 16 32381759 splice site probably benign
R2070:Ubxn7 UTSW 16 32372469 missense possibly damaging 0.47
R2071:Ubxn7 UTSW 16 32372469 missense possibly damaging 0.47
R3031:Ubxn7 UTSW 16 32375307 missense probably benign 0.34
R3871:Ubxn7 UTSW 16 32381430 missense possibly damaging 0.94
R4994:Ubxn7 UTSW 16 32381504 missense probably damaging 1.00
R5629:Ubxn7 UTSW 16 32332299 missense unknown
R6334:Ubxn7 UTSW 16 32372189 unclassified probably null
R6599:Ubxn7 UTSW 16 32384925 missense probably damaging 1.00
Posted On2015-04-16