Incidental Mutation 'R1237:Ubtd2'
ID152465
Institutional Source Beutler Lab
Gene Symbol Ubtd2
Ensembl Gene ENSMUSG00000044949
Gene Nameubiquitin domain containing 2
Synonyms
MMRRC Submission 039304-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.757) question?
Stock #R1237 (G1)
Quality Score225
Status Validated
Chromosome11
Chromosomal Location32455370-32516687 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 32516125 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Tryptophan at position 115 (R115W)
Ref Sequence ENSEMBL: ENSMUSP00000056765 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000051053]
Predicted Effect probably damaging
Transcript: ENSMUST00000051053
AA Change: R115W

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000056765
Gene: ENSMUSG00000044949
AA Change: R115W

DomainStartEndE-ValueType
Pfam:UBD 28 132 4e-42 PFAM
UBQ 152 223 3.24e-4 SMART
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.2%
  • 10x: 95.9%
  • 20x: 91.8%
Validation Efficiency 98% (40/41)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 104,948,357 T500A probably damaging Het
Amz1 A T 5: 140,741,284 M1L probably damaging Het
Angptl1 T A 1: 156,858,584 N413K probably damaging Het
Ankrd13b T C 11: 77,474,574 T70A probably damaging Het
Cacna1c C T 6: 118,612,625 R1446H probably damaging Het
Ccdc174 C T 6: 91,890,787 probably benign Het
Ccnc T A 4: 21,730,457 F31L probably benign Het
Celsr1 A C 15: 85,903,974 S2692R probably benign Het
Chd1l C T 3: 97,582,731 E503K probably benign Het
Ddhd1 A T 14: 45,601,650 D65E probably benign Het
Dync1h1 A G 12: 110,665,959 N4504S probably benign Het
Enthd1 A G 15: 80,534,598 S167P probably damaging Het
Fat1 A T 8: 45,044,279 Y4267F probably damaging Het
Hectd4 C T 5: 121,321,507 A813V possibly damaging Het
Ibtk T C 9: 85,720,748 S735G probably benign Het
Itga4 A G 2: 79,279,146 I230V probably null Het
Kcnh8 A T 17: 52,893,960 Q474L probably damaging Het
Kcnh8 G T 17: 52,893,961 Q474H probably damaging Het
Mib1 C T 18: 10,768,149 T466I probably damaging Het
Olfr101 T A 17: 37,300,265 R52S probably benign Het
Olfr1368 C T 13: 21,142,167 V297I probably benign Het
Olfr167 A C 16: 19,515,625 Y4D probably benign Het
Parp14 G A 16: 35,856,760 A946V probably benign Het
Prdx6b A G 2: 80,293,176 I110V probably benign Het
Prf1 A C 10: 61,303,649 D462A probably benign Het
Rps6ka5 T C 12: 100,575,705 D391G possibly damaging Het
Scn7a A T 2: 66,680,295 N1254K probably damaging Het
Skor2 A T 18: 76,876,132 K924* probably null Het
Slc22a21 A G 11: 53,979,772 I29T probably benign Het
Tas2r140 T C 6: 133,055,208 T196A probably benign Het
Thrap3 A G 4: 126,180,069 S295P probably benign Het
Trim43a GATTTATTTATTTATTTATTTATTTATTTATTTATTTATT GATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTATT 9: 88,582,989 probably benign Het
Unc93b1 A G 19: 3,935,228 E12G possibly damaging Het
Vgll3 T A 16: 65,839,573 Y203* probably null Het
Vmn1r212 G A 13: 22,883,468 Q232* probably null Het
Vmn2r107 T A 17: 20,356,685 L315* probably null Het
Vmn2r84 T A 10: 130,387,856 probably null Het
Washc5 A G 15: 59,338,908 probably benign Het
Other mutations in Ubtd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02141:Ubtd2 APN 11 32499262 missense probably benign 0.44
IGL02528:Ubtd2 APN 11 32499249 nonsense probably null
R0049:Ubtd2 UTSW 11 32499223 critical splice acceptor site probably null
R0049:Ubtd2 UTSW 11 32499224 critical splice acceptor site probably null
R1445:Ubtd2 UTSW 11 32516125 missense probably damaging 1.00
R4012:Ubtd2 UTSW 11 32499260 missense probably benign 0.19
R4452:Ubtd2 UTSW 11 32499406 missense probably damaging 1.00
R5057:Ubtd2 UTSW 11 32516320 missense probably damaging 1.00
R6289:Ubtd2 UTSW 11 32516177 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTCTGCCAGAGTCCTCTTAGAGC -3'
(R):5'- ATCTTGGAAGAAGGCAAGTCCAGC -3'

Sequencing Primer
(F):5'- GAGCTTTTGTCTTGGCTTTCC -3'
(R):5'- AGCTTCATCTTATCCGTGAGAG -3'
Posted On2014-01-29