Incidental Mutation 'IGL02096:Ubxn2b'
ID 281104
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn2b
Ensembl Gene ENSMUSG00000028243
Gene Name UBX domain protein 2B
Synonyms 6430407D20Rik, 3110003A22Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.281) question?
Stock # IGL02096
Quality Score
Status
Chromosome 4
Chromosomal Location 6191105-6219788 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 6214749 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 261 (I261N)
Ref Sequence ENSEMBL: ENSMUSP00000029907 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029907]
AlphaFold Q0KL01
Predicted Effect probably damaging
Transcript: ENSMUST00000029907
AA Change: I261N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029907
Gene: ENSMUSG00000028243
AA Change: I261N

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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A G 11: 109,993,359 (GRCm39) L1584P probably damaging Het
Abca9 G T 11: 110,056,806 (GRCm39) H5N probably benign Het
Acox1 A T 11: 116,069,024 (GRCm39) I371N probably damaging Het
Aopep C A 13: 63,208,903 (GRCm39) A340E probably benign Het
Bmp5 A G 9: 75,805,833 (GRCm39) N445S probably damaging Het
Cacna1b G T 2: 24,568,927 (GRCm39) A999E probably benign Het
Cdc27 A T 11: 104,419,394 (GRCm39) probably benign Het
Dmxl2 T C 9: 54,308,349 (GRCm39) E2134G possibly damaging Het
Dnttip2 A G 3: 122,078,062 (GRCm39) N698S possibly damaging Het
Duox1 A T 2: 122,174,655 (GRCm39) K1271M probably damaging Het
Dync1h1 T C 12: 110,599,254 (GRCm39) Y1870H possibly damaging Het
Edem3 A G 1: 151,680,470 (GRCm39) T532A probably benign Het
Epx A T 11: 87,760,294 (GRCm39) L440Q probably damaging Het
F11 A G 8: 45,699,791 (GRCm39) F432L probably benign Het
Fam185a C A 5: 21,630,341 (GRCm39) P59Q probably damaging Het
Fsip2 A G 2: 82,822,204 (GRCm39) D5979G possibly damaging Het
Furin A G 7: 80,043,207 (GRCm39) S335P probably damaging Het
Gtf3c1 T A 7: 125,258,284 (GRCm39) Q1262L probably damaging Het
Hmmr A T 11: 40,598,256 (GRCm39) V652E probably benign Het
Iapp A T 6: 142,249,199 (GRCm39) N84I probably benign Het
Katnip G A 7: 125,413,993 (GRCm39) C379Y probably benign Het
Mmp17 C T 5: 129,675,752 (GRCm39) Q304* probably null Het
Mpl T C 4: 118,314,333 (GRCm39) T55A possibly damaging Het
Mst1r G A 9: 107,794,478 (GRCm39) R1219H probably damaging Het
Muc6 T A 7: 141,226,117 (GRCm39) probably benign Het
Nalcn C T 14: 123,831,915 (GRCm39) V120I probably benign Het
Nt5dc1 A T 10: 34,275,806 (GRCm39) C134* probably null Het
Obscn A C 11: 58,971,530 (GRCm39) N2228K probably damaging Het
Or2n1c T A 17: 38,520,074 (GRCm39) *313R probably null Het
Osbpl10 T C 9: 115,046,062 (GRCm39) M566T possibly damaging Het
Pabpc1l G A 2: 163,886,267 (GRCm39) V466I probably benign Het
Pdcd11 T G 19: 47,094,860 (GRCm39) V548G probably benign Het
Prss27 G T 17: 24,263,951 (GRCm39) K212N possibly damaging Het
Ranbp2 T A 10: 58,297,789 (GRCm39) S399T probably damaging Het
Rgs19 A G 2: 181,331,076 (GRCm39) S159P probably damaging Het
Sh2b1 A G 7: 126,068,465 (GRCm39) S449P probably damaging Het
Slc6a18 T A 13: 73,820,870 (GRCm39) Y238F probably benign Het
Stx11 T C 10: 12,817,224 (GRCm39) I167V probably benign Het
Sucnr1 A G 3: 59,994,371 (GRCm39) M300V possibly damaging Het
Synj2 A G 17: 6,040,628 (GRCm39) T235A probably damaging Het
Vmn2r43 G A 7: 8,260,512 (GRCm39) probably benign Het
Vmn2r45 A G 7: 8,484,443 (GRCm39) M454T probably damaging Het
Vsig2 T A 9: 37,451,251 (GRCm39) S51T probably damaging Het
Wdr41 T C 13: 95,153,964 (GRCm39) probably benign Het
Wdr6 A C 9: 108,453,752 (GRCm39) L44V probably damaging Het
Zfp1001 T C 2: 150,165,634 (GRCm39) Y5H probably damaging Het
Zfp592 T C 7: 80,674,796 (GRCm39) Y587H probably damaging Het
Zfp735 A T 11: 73,602,254 (GRCm39) K399N probably benign Het
Other mutations in Ubxn2b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01912:Ubxn2b APN 4 6,203,767 (GRCm39) splice site probably null
IGL02272:Ubxn2b APN 4 6,216,071 (GRCm39) missense probably damaging 1.00
R0081:Ubxn2b UTSW 4 6,203,875 (GRCm39) splice site probably benign
R0482:Ubxn2b UTSW 4 6,196,404 (GRCm39) splice site probably null
R1903:Ubxn2b UTSW 4 6,208,889 (GRCm39) missense possibly damaging 0.82
R4206:Ubxn2b UTSW 4 6,204,565 (GRCm39) missense probably damaging 0.99
R5071:Ubxn2b UTSW 4 6,214,746 (GRCm39) missense probably damaging 1.00
R7622:Ubxn2b UTSW 4 6,214,692 (GRCm39) missense probably damaging 0.98
R8034:Ubxn2b UTSW 4 6,191,167 (GRCm39) missense probably benign 0.06
R8836:Ubxn2b UTSW 4 6,216,061 (GRCm39) missense probably damaging 1.00
R9156:Ubxn2b UTSW 4 6,214,646 (GRCm39) missense probably damaging 1.00
R9413:Ubxn2b UTSW 4 6,204,607 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16