Incidental Mutation 'IGL02323:Bud13'
ID 288317
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Bud13
Ensembl Gene ENSMUSG00000032077
Gene Name BUD13 homolog
Synonyms D030060M11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # IGL02323
Quality Score
Status
Chromosome 9
Chromosomal Location 46194281-46210084 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46194350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 8 (T8A)
Ref Sequence ENSEMBL: ENSMUSP00000074490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074957] [ENSMUST00000156440]
AlphaFold Q8R149
Predicted Effect probably benign
Transcript: ENSMUST00000074957
AA Change: T8A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077
AA Change: T8A

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
internal_repeat_1 122 182 5.18e-30 PROSPERO
internal_repeat_1 174 234 5.18e-30 PROSPERO
low complexity region 394 417 N/A INTRINSIC
low complexity region 420 434 N/A INTRINSIC
Pfam:Bud13 478 620 2.8e-52 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114552
SMART Domains Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
Zpr1 12 150 5.57e-30 SMART
Zpr1 184 343 4.27e-90 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138498
Predicted Effect probably benign
Transcript: ENSMUST00000156440
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Zpr1 49 207 1.47e-93 SMART
low complexity region 236 246 N/A INTRINSIC
Zpr1 257 416 4.27e-90 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ache A G 5: 137,289,326 (GRCm39) E344G probably damaging Het
Actrt2 T C 4: 154,751,255 (GRCm39) T294A probably benign Het
Afg1l C A 10: 42,330,506 (GRCm39) E54* probably null Het
Ahi1 T C 10: 20,847,933 (GRCm39) I447T probably damaging Het
Akap6 T C 12: 53,187,212 (GRCm39) I1542T probably benign Het
Ankrd34c A C 9: 89,612,033 (GRCm39) S103A possibly damaging Het
Apc C T 18: 34,448,863 (GRCm39) Q1886* probably null Het
Bcas3 A G 11: 85,386,671 (GRCm39) T148A probably damaging Het
Casr A T 16: 36,330,072 (GRCm39) Y421N probably damaging Het
Ccdc121rt2 A G 5: 112,597,600 (GRCm39) Y49C probably benign Het
Clasp2 T C 9: 113,697,794 (GRCm39) probably benign Het
Clca4b T C 3: 144,619,082 (GRCm39) T686A probably benign Het
Cntln T A 4: 84,968,026 (GRCm39) H748Q probably benign Het
Dmtf1 A T 5: 9,170,056 (GRCm39) D683E possibly damaging Het
Dnmt3l A G 10: 77,899,152 (GRCm39) K117R probably damaging Het
Eif2a T C 3: 58,456,024 (GRCm39) M341T possibly damaging Het
Epg5 T A 18: 78,056,047 (GRCm39) Y1740* probably null Het
Fam149b C T 14: 20,413,369 (GRCm39) T157I possibly damaging Het
Fam89b A G 19: 5,778,899 (GRCm39) probably null Het
Fbxo3 T A 2: 103,878,296 (GRCm39) N232K probably benign Het
Gnl3 A C 14: 30,739,359 (GRCm39) H16Q probably damaging Het
Gpld1 T G 13: 25,166,757 (GRCm39) V669G probably damaging Het
Grik3 A G 4: 125,579,783 (GRCm39) probably benign Het
Gzmg A C 14: 56,394,729 (GRCm39) Y180D probably benign Het
H2-M9 A T 17: 36,951,633 (GRCm39) Y281N probably damaging Het
Katnip T A 7: 125,442,001 (GRCm39) S637T probably benign Het
Mical1 G A 10: 41,362,660 (GRCm39) E932K possibly damaging Het
Mrs2 T A 13: 25,188,940 (GRCm39) I125F probably damaging Het
Nfam1 T A 15: 82,907,152 (GRCm39) N15I probably benign Het
Nol8 T A 13: 49,808,721 (GRCm39) probably benign Het
Obscn A G 11: 58,899,348 (GRCm39) V6483A possibly damaging Het
Or2a56 A T 6: 42,932,917 (GRCm39) I162F probably benign Het
Osbpl3 A G 6: 50,323,306 (GRCm39) probably null Het
Plaat3 G A 19: 7,552,357 (GRCm39) W24* probably null Het
Ppfibp2 A T 7: 107,337,836 (GRCm39) Q652H probably damaging Het
Rbm47 A G 5: 66,183,772 (GRCm39) V277A probably damaging Het
Robo3 G A 9: 37,333,497 (GRCm39) A716V probably benign Het
Scart1 G T 7: 139,808,572 (GRCm39) A828S probably benign Het
Semp2l1 A T 1: 32,584,785 (GRCm39) L375* probably null Het
Slc29a4 A G 5: 142,703,407 (GRCm39) E227G probably damaging Het
Slf1 T C 13: 77,199,413 (GRCm39) D656G possibly damaging Het
Sox1 A G 8: 12,446,692 (GRCm39) H111R possibly damaging Het
Spmip9 A G 6: 70,890,679 (GRCm39) probably benign Het
Svep1 G A 4: 58,070,236 (GRCm39) Q2517* probably null Het
Syndig1 G T 2: 149,741,707 (GRCm39) V98L probably benign Het
Synpo2 T C 3: 122,911,183 (GRCm39) E154G probably benign Het
Tkt G A 14: 30,292,992 (GRCm39) G490S possibly damaging Het
Tmem200a T C 10: 25,869,328 (GRCm39) N314D probably benign Het
Tnfaip8l1 A T 17: 56,479,009 (GRCm39) T100S probably damaging Het
Traf7 C A 17: 24,732,020 (GRCm39) C193F possibly damaging Het
Trim12c C T 7: 103,997,473 (GRCm39) A28T probably benign Het
Trpc7 C A 13: 56,931,564 (GRCm39) V595L possibly damaging Het
Ttc39c A G 18: 12,869,800 (GRCm39) R575G probably null Het
Ttn T G 2: 76,681,919 (GRCm39) probably benign Het
Ttn C T 2: 76,553,609 (GRCm39) V31003M probably damaging Het
Ugt2b37 A T 5: 87,398,423 (GRCm39) probably benign Het
Uqcrb A T 13: 67,050,874 (GRCm39) probably benign Het
Usp33 T A 3: 152,076,024 (GRCm39) W415R probably benign Het
Vmn2r110 A T 17: 20,816,399 (GRCm39) D41E probably damaging Het
Vmn2r98 A T 17: 19,286,113 (GRCm39) I204F probably damaging Het
Other mutations in Bud13
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0026:Bud13 UTSW 9 46,199,656 (GRCm39) missense probably benign
R1587:Bud13 UTSW 9 46,201,513 (GRCm39) missense probably damaging 0.98
R1808:Bud13 UTSW 9 46,199,705 (GRCm39) missense probably benign 0.00
R1840:Bud13 UTSW 9 46,197,706 (GRCm39) missense probably damaging 1.00
R2517:Bud13 UTSW 9 46,199,446 (GRCm39) missense probably benign 0.39
R3838:Bud13 UTSW 9 46,201,490 (GRCm39) missense possibly damaging 0.68
R4194:Bud13 UTSW 9 46,209,793 (GRCm39) missense probably damaging 1.00
R5474:Bud13 UTSW 9 46,199,251 (GRCm39) missense probably damaging 0.97
R5510:Bud13 UTSW 9 46,203,498 (GRCm39) missense probably damaging 1.00
R5761:Bud13 UTSW 9 46,199,350 (GRCm39) missense probably benign 0.00
R7248:Bud13 UTSW 9 46,194,413 (GRCm39) nonsense probably null
R7420:Bud13 UTSW 9 46,199,113 (GRCm39) missense probably benign 0.10
R7432:Bud13 UTSW 9 46,198,372 (GRCm39) missense probably benign 0.01
R7444:Bud13 UTSW 9 46,209,799 (GRCm39) missense probably damaging 1.00
R8352:Bud13 UTSW 9 46,199,377 (GRCm39) missense possibly damaging 0.83
R8353:Bud13 UTSW 9 46,199,499 (GRCm39) missense probably benign
R8452:Bud13 UTSW 9 46,199,377 (GRCm39) missense possibly damaging 0.83
R8453:Bud13 UTSW 9 46,199,499 (GRCm39) missense probably benign
Z1177:Bud13 UTSW 9 46,203,038 (GRCm39) missense probably damaging 1.00
Posted On 2015-04-16