Incidental Mutation 'IGL01813:Bub3'
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ID154311
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bub3
Ensembl Gene ENSMUSG00000066979
Gene NameBUB3 mitotic checkpoint protein
Synonyms
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01813
Quality Score
Status
Chromosome7
Chromosomal Location131560222-131571895 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 131568633 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 295 (S295P)
Ref Sequence ENSEMBL: ENSMUSP00000081547 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084502] [ENSMUST00000124096] [ENSMUST00000207231] [ENSMUST00000207442] [ENSMUST00000207736] [ENSMUST00000208571]
Predicted Effect probably benign
Transcript: ENSMUST00000084502
AA Change: S295P

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000081547
Gene: ENSMUSG00000066979
AA Change: S295P

DomainStartEndE-ValueType
WD40 2 43 5.69e-4 SMART
WD40 46 83 8.91e-1 SMART
WD40 88 124 5.1e-6 SMART
WD40 127 163 6.16e0 SMART
WD40 214 262 4.02e-4 SMART
WD40 265 302 1.97e2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000124096
SMART Domains Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

DomainStartEndE-ValueType
Pfam:Pkinase 1 118 4.8e-19 PFAM
Pfam:Pkinase_Tyr 1 118 1.7e-50 PFAM
low complexity region 146 160 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000207231
Predicted Effect probably benign
Transcript: ENSMUST00000207442
AA Change: S295P

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect probably benign
Transcript: ENSMUST00000207736
Predicted Effect probably benign
Transcript: ENSMUST00000208571
Predicted Effect noncoding transcript
Transcript: ENSMUST00000209131
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene encodes a component of the mitotic spindle assembly complex. The encoded protein is involved in the regulation of chromosome segregation during oocyte meiosis. Disruption of this gene results in the accumulation of mitotic errors and is lethal in the embryonic stage. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality by E8.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik G A 3: 36,928,520 S778N possibly damaging Het
Abcb11 T A 2: 69,287,592 probably benign Het
Adgrb2 T C 4: 130,012,566 V929A probably benign Het
Aldh2 T C 5: 121,572,073 I400V probably benign Het
Atxn2l T C 7: 126,500,253 D84G probably damaging Het
Avpr1a T A 10: 122,449,011 N69K probably damaging Het
BC022687 C T 12: 112,815,559 T272M probably damaging Het
BC034090 G A 1: 155,226,339 Q60* probably null Het
Cacna1b T C 2: 24,609,890 S161G probably damaging Het
Col6a4 T A 9: 106,077,253 S296C probably damaging Het
Cyp4f15 G A 17: 32,686,157 R38H probably benign Het
Dync2h1 T C 9: 7,122,799 I2052M probably damaging Het
Gm11627 T C 11: 102,578,808 probably benign Het
Jmjd8 A T 17: 25,829,238 probably null Het
Kmt2c A G 5: 25,290,804 V629A possibly damaging Het
Kremen1 T C 11: 5,199,667 T335A probably benign Het
Olfr109 A G 17: 37,466,758 E184G probably damaging Het
Olfr282 A G 15: 98,437,649 Y60C possibly damaging Het
Oosp2 T C 19: 11,651,483 T85A probably benign Het
Pex5l T C 3: 33,082,055 E5G probably benign Het
Pigk A T 3: 152,742,519 Q173L probably damaging Het
Pik3c2g T A 6: 139,622,409 N174K possibly damaging Het
Plb1 C T 5: 32,329,085 H893Y probably damaging Het
Pus7 T C 5: 23,760,304 probably benign Het
R3hdm1 G A 1: 128,175,233 probably null Het
Samd7 C T 3: 30,754,286 P83S probably benign Het
Supt5 T A 7: 28,323,975 Y293F probably damaging Het
Tbc1d30 T C 10: 121,267,051 D692G probably benign Het
Tmpo G A 10: 91,163,242 R228C probably benign Het
Tnn A T 1: 160,088,438 H1236Q probably damaging Het
Ubr3 T C 2: 69,951,570 I667T probably benign Het
Vmn1r183 T A 7: 24,055,560 F263I probably benign Het
Other mutations in Bub3
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0294:Bub3 UTSW 7 131568224 missense possibly damaging 0.83
R1591:Bub3 UTSW 7 131561608 critical splice donor site probably null
R2679:Bub3 UTSW 7 131568725 unclassified probably null
R2847:Bub3 UTSW 7 131570884 missense possibly damaging 0.79
R4392:Bub3 UTSW 7 131566335 missense probably benign 0.01
R4856:Bub3 UTSW 7 131561568 missense probably damaging 1.00
R4992:Bub3 UTSW 7 131560806 missense probably damaging 1.00
R5364:Bub3 UTSW 7 131560738 missense possibly damaging 0.93
Posted On2014-02-04