Incidental Mutation 'IGL02272:Ubxn2b'
ID 287205
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn2b
Ensembl Gene ENSMUSG00000028243
Gene Name UBX domain protein 2B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.355) question?
Stock # IGL02272
Quality Score
Status
Chromosome 4
Chromosomal Location 6191098-6221688 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to T at 6216071 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 331 (K331N)
Ref Sequence ENSEMBL: ENSMUSP00000029907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029907]
AlphaFold Q0KL01
Predicted Effect probably damaging
Transcript: ENSMUST00000029907
AA Change: K331N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029907
Gene: ENSMUSG00000028243
AA Change: K331N

DomainStartEndE-ValueType
low complexity region 8 25 N/A INTRINSIC
SEP 138 232 3.5e-39 SMART
UBX 251 330 1.05e-8 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgre1 T A 17: 57,450,021 C759* probably null Het
Adgrg6 T A 10: 14,468,829 M127L probably damaging Het
AI314180 A T 4: 58,811,731 N1439K probably benign Het
Anxa9 A G 3: 95,305,894 V47A probably benign Het
Arhgef12 T A 9: 43,001,452 D483V probably damaging Het
Arrdc3 C A 13: 80,891,650 probably benign Het
Ccdc169 A G 3: 55,150,748 E67G probably damaging Het
Ccdc191 T A 16: 43,960,022 V731D possibly damaging Het
Cdh3 G T 8: 106,547,836 probably null Het
Cntnap1 G A 11: 101,178,316 V199M probably damaging Het
Cntnap3 A T 13: 64,757,411 V852E probably damaging Het
Csmd1 A T 8: 16,199,893 S1024T probably damaging Het
Cyp3a25 T C 5: 145,993,265 probably benign Het
Dusp6 T A 10: 99,266,019 V289D probably damaging Het
Epha6 C T 16: 59,818,937 R858Q probably damaging Het
Flrt2 T A 12: 95,779,704 F272Y probably damaging Het
Gbf1 T A 19: 46,269,803 W846R probably damaging Het
Gtpbp2 T A 17: 46,164,781 V152E probably benign Het
Hmces A G 6: 87,917,855 probably null Het
Hsph1 A G 5: 149,617,530 S852P probably benign Het
Kat6b A C 14: 21,626,778 K394Q probably damaging Het
Kdr G A 5: 75,961,840 T475I probably benign Het
Klhl25 A G 7: 75,866,620 T425A probably benign Het
Klk1b8 T A 7: 43,952,793 C50S probably damaging Het
Kri1 T C 9: 21,276,168 Y343C probably damaging Het
Lamb1 T C 12: 31,305,769 S953P probably benign Het
Lpin1 A G 12: 16,547,600 V681A probably damaging Het
Lpin3 A G 2: 160,901,661 T508A probably benign Het
Moxd1 T A 10: 24,282,700 Y417* probably null Het
Mthfd1l T G 10: 4,041,812 I588S probably damaging Het
Myo5c C A 9: 75,266,160 N543K possibly damaging Het
Myo9a T A 9: 59,884,600 probably benign Het
Nme8 T C 13: 19,658,826 Y393C probably damaging Het
Nr2e1 T G 10: 42,567,979 N249T probably damaging Het
Pex11g A G 8: 3,465,898 V45A probably benign Het
Pkhd1 C A 1: 20,209,260 G2945W probably damaging Het
Plxnd1 A G 6: 115,993,628 F393S probably damaging Het
Ppp3cc A G 14: 70,236,489 V353A probably damaging Het
Prss16 T A 13: 22,003,035 Q455L probably damaging Het
Ptpn6 A T 6: 124,721,208 V524E probably damaging Het
Rap1gap A G 4: 137,716,566 Y163C probably damaging Het
Rnf31 C T 14: 55,598,782 L598F probably damaging Het
Sardh T G 2: 27,224,991 D550A probably benign Het
Serpinc1 T G 1: 160,999,992 I387S probably damaging Het
Sh3d19 A T 3: 86,121,167 D650V probably benign Het
Sipa1l2 T A 8: 125,492,011 T196S probably damaging Het
Slc25a46 T C 18: 31,583,568 T294A probably benign Het
Srrm2 T C 17: 23,815,782 probably benign Het
Steap2 T A 5: 5,677,612 N241I probably benign Het
Tcaf3 T C 6: 42,596,660 Y206C probably damaging Het
Tmem259 T A 10: 79,978,463 Q322L probably damaging Het
Tnni2 C A 7: 142,443,429 Q52K possibly damaging Het
Ttn A G 2: 76,735,028 V28285A possibly damaging Het
Uba7 T A 9: 107,976,153 S99R probably benign Het
Usp50 G A 2: 126,769,944 T232I probably damaging Het
Vmn2r116 G A 17: 23,385,999 M95I probably benign Het
Vmn2r116 T A 17: 23,386,004 L97Q probably damaging Het
Vmn2r24 A T 6: 123,786,884 N240I possibly damaging Het
Vmn2r72 T C 7: 85,750,693 R383G probably benign Het
Other mutations in Ubxn2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Ubxn2b APN 4 6203767 splice site probably null
IGL02096:Ubxn2b APN 4 6214749 missense probably damaging 1.00
R0081:Ubxn2b UTSW 4 6203875 splice site probably benign
R0482:Ubxn2b UTSW 4 6196404 splice site probably null
R1903:Ubxn2b UTSW 4 6208889 missense possibly damaging 0.82
R4206:Ubxn2b UTSW 4 6204565 missense probably damaging 0.99
R5071:Ubxn2b UTSW 4 6214746 missense probably damaging 1.00
R7622:Ubxn2b UTSW 4 6214692 missense probably damaging 0.98
R8034:Ubxn2b UTSW 4 6191167 missense probably benign 0.06
R8836:Ubxn2b UTSW 4 6216061 missense probably damaging 1.00
R9156:Ubxn2b UTSW 4 6214646 missense probably damaging 1.00
R9413:Ubxn2b UTSW 4 6204607 missense probably damaging 1.00
Posted On 2015-04-16