Incidental Mutation 'R3052:Ubxn2a'
ID265002
Institutional Source Beutler Lab
Gene Symbol Ubxn2a
Ensembl Gene ENSMUSG00000020634
Gene NameUBX domain protein 2A
Synonyms6330407P03Rik, Ubxd4
MMRRC Submission 040561-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.802) question?
Stock #R3052 (G1)
Quality Score225
Status Validated
Chromosome12
Chromosomal Location4879032-4907705 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) T to A at 4891322 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 95 (K95*)
Ref Sequence ENSEMBL: ENSMUSP00000118834 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020962] [ENSMUST00000141360] [ENSMUST00000142867]
Predicted Effect probably null
Transcript: ENSMUST00000020962
AA Change: K95*
SMART Domains Protein: ENSMUSP00000020962
Gene: ENSMUSG00000020634
AA Change: K95*

DomainStartEndE-ValueType
SEP 58 151 1.52e-25 SMART
UBX 167 248 4.07e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000141360
Predicted Effect probably null
Transcript: ENSMUST00000142867
AA Change: K95*
SMART Domains Protein: ENSMUSP00000118834
Gene: ENSMUSG00000020634
AA Change: K95*

DomainStartEndE-ValueType
SEP 58 151 1.52e-25 SMART
UBX 167 248 4.07e-3 SMART
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 93.8%
Validation Efficiency 100% (38/38)
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 G A 8: 46,521,337 V330I probably benign Het
Adcy5 T C 16: 35,303,716 L1255P probably damaging Het
Ampd2 C T 3: 108,086,487 probably benign Het
Asb18 T A 1: 89,992,985 H149L probably damaging Het
Atp8b1 T C 18: 64,553,108 E668G probably benign Het
Axdnd1 T C 1: 156,341,870 T809A probably damaging Het
B430306N03Rik T C 17: 48,316,910 S80P probably damaging Het
Banp G A 8: 122,005,687 probably null Het
Capn2 G A 1: 182,487,772 T306M probably benign Het
Ccpg1 A T 9: 73,005,868 S229C probably damaging Het
Cep250 G T 2: 155,991,048 S1630I probably damaging Het
Ces1g C A 8: 93,335,048 V77L possibly damaging Het
Cldn8 A C 16: 88,562,731 M102R probably damaging Het
Col6a3 T A 1: 90,802,130 H1211L possibly damaging Het
Cyp2a5 A G 7: 26,842,985 I471V possibly damaging Het
Gm10384 A G 15: 36,871,752 noncoding transcript Het
Gm973 T C 1: 59,633,140 probably benign Het
Ift88 C T 14: 57,430,568 P9S probably damaging Het
Mfsd2a A G 4: 122,951,842 L172P probably damaging Het
Nav3 T A 10: 109,903,752 I119F probably damaging Het
Nbeal2 T C 9: 110,633,085 E1428G possibly damaging Het
Olfr1126 C A 2: 87,457,903 T246K probably damaging Het
Phf13 T C 4: 151,992,363 D124G possibly damaging Het
Ppp3ca T G 3: 136,797,844 S59R probably benign Het
Rsu1 A G 2: 13,170,135 probably benign Het
Rttn T C 18: 89,015,246 probably benign Het
Ryr1 A T 7: 29,053,090 V3598E probably damaging Het
Sc5d G T 9: 42,255,570 N224K probably damaging Het
Tacc2 G A 7: 130,625,496 E1323K possibly damaging Het
Tbc1d21 T A 9: 58,363,069 D141V probably damaging Het
Trp53bp2 T C 1: 182,453,782 F983L probably damaging Het
Ugt3a2 G T 15: 9,365,288 W329L probably damaging Het
Unk T C 11: 116,050,123 Y237H probably benign Het
Vcam1 A C 3: 116,124,430 probably null Het
Xpo6 T C 7: 126,104,721 N1086D probably damaging Het
Zc3h12c A T 9: 52,144,056 L132Q possibly damaging Het
Other mutations in Ubxn2a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00956:Ubxn2a APN 12 4883956 missense probably benign 0.00
R0611:Ubxn2a UTSW 12 4880700 missense probably damaging 1.00
R0900:Ubxn2a UTSW 12 4902257 missense probably damaging 1.00
R1808:Ubxn2a UTSW 12 4885839 missense probably benign 0.00
R1883:Ubxn2a UTSW 12 4894563 nonsense probably null
R2163:Ubxn2a UTSW 12 4885757 missense probably damaging 1.00
R2404:Ubxn2a UTSW 12 4883851 missense probably benign 0.00
R3051:Ubxn2a UTSW 12 4891322 nonsense probably null
R3053:Ubxn2a UTSW 12 4891322 nonsense probably null
R4204:Ubxn2a UTSW 12 4894593 missense probably damaging 1.00
R5088:Ubxn2a UTSW 12 4883904 missense probably damaging 1.00
R5182:Ubxn2a UTSW 12 4880634 missense probably damaging 1.00
R5366:Ubxn2a UTSW 12 4880741 missense probably benign 0.04
R5518:Ubxn2a UTSW 12 4902238 missense probably benign 0.31
R7414:Ubxn2a UTSW 12 4891381 missense probably damaging 1.00
R7613:Ubxn2a UTSW 12 4883832 missense possibly damaging 0.55
Predicted Primers PCR Primer
(F):5'- TGGATTTCAAGGCTAGCTGAG -3'
(R):5'- AGAGTTGAGAGGACTTCACTTATG -3'

Sequencing Primer
(F):5'- AGAGGATGTTGGACACCCCTAC -3'
(R):5'- GAGAGGACTTCACTTATGACTATCGC -3'
Posted On2015-02-05