Incidental Mutation 'IGL03216:Ubxn10'
ID 413484
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 # IGL03216
Quality Score
Status
Chromosome 4
Chromosomal Location 138437148-138464478 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 138448050 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Methionine at position 209 (V209M)
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 damaging
Transcript: ENSMUST00000105809
AA Change: V209M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101435
Gene: ENSMUSG00000043621
AA Change: V209M

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105810
AA Change: V209M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101436
Gene: ENSMUSG00000043621
AA Change: V209M

DomainStartEndE-ValueType
low complexity region 60 77 N/A INTRINSIC
UBX 188 270 5.36e-4 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000105811
AA Change: V209M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000101437
Gene: ENSMUSG00000043621
AA Change: V209M

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 damaging
Transcript: ENSMUST00000146415
AA Change: V209M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000117219
Gene: ENSMUSG00000043621
AA Change: V209M

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: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ano10 A T 9: 122,086,127 (GRCm39) Y491N probably damaging Het
Cacna2d1 T C 5: 16,558,840 (GRCm39) F709L probably damaging Het
Cadps A G 14: 12,439,944 (GRCm38) I1196T probably damaging Het
Cage1 T C 13: 38,190,153 (GRCm39) probably benign Het
Cep350 A T 1: 155,736,373 (GRCm39) C2888S probably benign Het
Cfap52 T C 11: 67,844,932 (GRCm39) T46A possibly damaging Het
Cyp2d26 T C 15: 82,677,462 (GRCm39) M76V probably benign Het
Fermt3 A T 19: 6,976,748 (GRCm39) D653E probably benign Het
Foxj3 A G 4: 119,467,180 (GRCm39) probably benign Het
Gm21985 T A 2: 112,097,281 (GRCm39) S39T probably damaging Het
Herc1 A T 9: 66,386,228 (GRCm39) D3727V probably benign Het
Ifi208 A T 1: 173,506,507 (GRCm39) T97S possibly damaging Het
Iqgap1 T C 7: 80,392,836 (GRCm39) E709G probably benign Het
Itgb5 T A 16: 33,723,208 (GRCm39) H361Q probably benign Het
Mr1 T A 1: 155,005,035 (GRCm39) N335I possibly damaging Het
Nadsyn1 A T 7: 143,351,582 (GRCm39) F684I probably damaging Het
Nf1 A T 11: 79,455,721 (GRCm39) I2544F probably benign Het
Or6c1b A G 10: 129,272,806 (GRCm39) T42A probably damaging Het
Pnp2 T G 14: 51,200,654 (GRCm39) S107A probably benign Het
Pomt1 A G 2: 32,132,955 (GRCm39) I184V probably damaging Het
Slc6a19 T G 13: 73,834,300 (GRCm39) M301L probably benign Het
Smarca5 T C 8: 81,446,287 (GRCm39) Y471C probably damaging Het
Syne2 A T 12: 75,989,735 (GRCm39) probably benign Het
Tasor2 C T 13: 3,624,553 (GRCm39) C1799Y probably damaging Het
Tex55 T C 16: 38,649,052 (GRCm39) D19G possibly damaging Het
Trmt6 T C 2: 132,650,618 (GRCm39) N330S probably null Het
Tsc22d1 T C 14: 76,656,077 (GRCm39) V770A probably benign Het
Ttll6 A G 11: 96,042,840 (GRCm39) D462G probably benign Het
Ttn T C 2: 76,775,393 (GRCm39) H1883R probably damaging Het
Urb1 T C 16: 90,585,002 (GRCm39) T540A probably benign Het
Vmn2r17 A T 5: 109,600,756 (GRCm39) R685W probably damaging Het
Vps4a C T 8: 107,763,335 (GRCm39) R30C probably damaging Het
Xpo6 A G 7: 125,703,985 (GRCm39) V1055A probably damaging Het
Zfp445 C T 9: 122,681,043 (GRCm39) C966Y probably damaging Het
Other mutations in Ubxn10
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02149:Ubxn10 APN 4 138,448,584 (GRCm39) missense probably benign 0.00
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 2016-08-02