Incidental Mutation 'IGL02149:Ubxn10'
ID 281890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubxn10
Ensembl Gene ENSMUSG00000043621
Gene Name UBX domain protein 10
Synonyms Ubxd3, 5730509E04Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02149
Quality Score
Status
Chromosome 4
Chromosomal Location 138437148-138464478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 138448584 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 31 (S31P)
Ref Sequence ENSEMBL: ENSMUSP00000117219 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030530] [ENSMUST00000105808] [ENSMUST00000105809] [ENSMUST00000105810] [ENSMUST00000105811] [ENSMUST00000124660] [ENSMUST00000146415]
AlphaFold Q8BG34
Predicted Effect probably benign
Transcript: ENSMUST00000030530
SMART Domains Protein: ENSMUSP00000030530
Gene: ENSMUSG00000028750

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 143 1.83e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105808
SMART Domains Protein: ENSMUSP00000101434
Gene: ENSMUSG00000028750

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 143 1.83e-50 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105809
AA Change: S31P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101435
Gene: ENSMUSG00000043621
AA Change: S31P

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105810
AA Change: S31P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101436
Gene: ENSMUSG00000043621
AA Change: S31P

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000105811
AA Change: S31P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000101437
Gene: ENSMUSG00000043621
AA Change: S31P

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124660
SMART Domains Protein: ENSMUSP00000124341
Gene: ENSMUSG00000028750

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
PA2c 21 128 1.4e-37 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000146415
AA Change: S31P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000117219
Gene: ENSMUSG00000043621
AA Change: S31P

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam10 A T 9: 70,610,713 (GRCm39) H67L probably damaging Het
Adgrb1 C T 15: 74,412,326 (GRCm39) T435I probably damaging Het
Adgrd1 T A 5: 129,256,325 (GRCm39) F652Y probably damaging Het
Adgrl4 T A 3: 151,205,991 (GRCm39) F250Y possibly damaging Het
Aebp2 C T 6: 140,588,010 (GRCm39) A360V probably benign Het
AW551984 A C 9: 39,504,220 (GRCm39) M582R probably benign Het
B430306N03Rik T C 17: 48,624,020 (GRCm39) V107A probably benign Het
Cage1 T C 13: 38,206,505 (GRCm39) N447D probably damaging Het
Col17a1 T C 19: 47,657,071 (GRCm39) D524G probably benign Het
Dpp6 A T 5: 27,743,022 (GRCm39) I218F probably benign Het
Ep300 T G 15: 81,512,621 (GRCm39) probably benign Het
Ephb2 C T 4: 136,421,225 (GRCm39) C375Y probably damaging Het
Fastk A G 5: 24,649,051 (GRCm39) V112A probably damaging Het
Fbxo11 T A 17: 88,301,187 (GRCm39) R775S possibly damaging Het
Fbxw20 A G 9: 109,062,886 (GRCm39) probably null Het
Hamp2 G T 7: 30,622,122 (GRCm39) A50E probably damaging Het
Il22b C A 10: 118,130,902 (GRCm39) probably benign Het
Ints1 G A 5: 139,737,715 (GRCm39) R2139C probably damaging Het
Itgae T A 11: 72,994,720 (GRCm39) V24E probably benign Het
Jakmip3 G A 7: 138,609,075 (GRCm39) V60M possibly damaging Het
Kcnk10 A C 12: 98,485,099 (GRCm39) probably benign Het
Klra1 A T 6: 130,352,293 (GRCm39) C150S probably damaging Het
Lhx9 A T 1: 138,759,172 (GRCm39) V376E probably damaging Het
Mdm1 T A 10: 117,983,970 (GRCm39) F199I probably damaging Het
Nipal3 G T 4: 135,194,163 (GRCm39) T290K possibly damaging Het
Obsl1 C T 1: 75,480,464 (GRCm39) E387K probably damaging Het
Or8b43 A G 9: 38,360,693 (GRCm39) H175R probably damaging Het
Oxct1 A G 15: 4,120,711 (GRCm39) Y265C probably damaging Het
Pccb G A 9: 100,867,243 (GRCm39) H411Y probably damaging Het
Pkp1 A G 1: 135,814,485 (GRCm39) S279P probably benign Het
Prdm14 C A 1: 13,195,663 (GRCm39) G133C probably benign Het
Prkaa2 A T 4: 104,897,285 (GRCm39) N309K probably benign Het
Shc2 T C 10: 79,458,102 (GRCm39) D527G probably damaging Het
Shkbp1 C T 7: 27,042,064 (GRCm39) probably benign Het
Skil T C 3: 31,151,856 (GRCm39) V126A possibly damaging Het
Slc25a36 A T 9: 96,975,122 (GRCm39) probably benign Het
Slc2a13 T C 15: 91,227,924 (GRCm39) T423A probably benign Het
Spty2d1 A G 7: 46,657,892 (GRCm39) probably benign Het
Stag1 A G 9: 100,769,442 (GRCm39) D519G probably benign Het
Tmprss2 G T 16: 97,400,479 (GRCm39) probably benign Het
Trim66 G T 7: 109,060,109 (GRCm39) T759K possibly damaging Het
Trpc4ap C A 2: 155,481,467 (GRCm39) A530S probably damaging Het
Ttn A T 2: 76,642,099 (GRCm39) D11625E probably damaging Het
Ube4b T C 4: 149,483,141 (GRCm39) I42M possibly damaging Het
Ubxn7 A G 16: 32,194,088 (GRCm39) Y220C probably damaging Het
Vmn1r234 A G 17: 21,449,269 (GRCm39) Y61C probably benign Het
Other mutations in Ubxn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03216:Ubxn10 APN 4 138,448,050 (GRCm39) missense probably damaging 1.00
PIT1430001:Ubxn10 UTSW 4 138,448,199 (GRCm39) missense probably benign 0.01
R0885:Ubxn10 UTSW 4 138,447,881 (GRCm39) missense probably damaging 1.00
R2031:Ubxn10 UTSW 4 138,448,574 (GRCm39) missense possibly damaging 0.92
R4117:Ubxn10 UTSW 4 138,448,276 (GRCm39) missense probably benign 0.01
R4461:Ubxn10 UTSW 4 138,448,187 (GRCm39) missense probably benign 0.31
R4737:Ubxn10 UTSW 4 138,463,259 (GRCm39) intron probably benign
R4804:Ubxn10 UTSW 4 138,448,515 (GRCm39) missense possibly damaging 0.71
R5739:Ubxn10 UTSW 4 138,448,134 (GRCm39) missense probably benign 0.01
R6524:Ubxn10 UTSW 4 138,448,194 (GRCm39) nonsense probably null
R7252:Ubxn10 UTSW 4 138,448,187 (GRCm39) missense probably benign
R8824:Ubxn10 UTSW 4 138,463,178 (GRCm39) critical splice donor site probably null
R9189:Ubxn10 UTSW 4 138,448,133 (GRCm39) missense possibly damaging 0.81
Posted On 2015-04-16