Incidental Mutation 'P0026:Bud13'
ID8072
Institutional Source Beutler Lab
Gene Symbol Bud13
Ensembl Gene ENSMUSG00000032077
Gene NameBUD13 homolog
SynonymsD030060M11Rik
MMRRC Submission 038279-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.959) question?
Stock #P0026 (G1)
Quality Score
Status Validated
Chromosome9
Chromosomal Location46283008-46299110 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46288358 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 339 (H339R)
Ref Sequence ENSEMBL: ENSMUSP00000074490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074957] [ENSMUST00000213932]
Predicted Effect probably benign
Transcript: ENSMUST00000074957
AA Change: H339R

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077
AA Change: H339R

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 unknown
Transcript: ENSMUST00000124887
AA Change: H37R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154247
Predicted Effect noncoding transcript
Transcript: ENSMUST00000213338
Predicted Effect probably benign
Transcript: ENSMUST00000213932
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 85.6%
  • 3x: 78.9%
  • 10x: 59.5%
  • 20x: 38.1%
Validation Efficiency 97% (63/65)
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi2 A G 1: 60,453,723 N182D probably benign Het
Acad10 T C 5: 121,637,352 Y429C probably damaging Het
Aifm3 A T 16: 17,507,117 probably benign Het
Cpa1 T A 6: 30,640,906 M132K probably damaging Het
Dapk1 T A 13: 60,718,149 probably benign Het
Dchs1 A T 7: 105,758,405 N2073K probably damaging Het
Dnah2 A T 11: 69,464,947 N2227K probably damaging Het
Dnpep C T 1: 75,308,685 V468I probably benign Het
Elf3 A G 1: 135,255,973 probably null Het
Fam124a T G 14: 62,606,122 L360V probably damaging Het
Fam20a A T 11: 109,675,841 probably null Het
Fermt3 A G 19: 7,014,424 S140P probably damaging Het
Gm10440 T C 5: 54,356,169 noncoding transcript Het
Il12rb1 A G 8: 70,812,541 D167G probably damaging Het
Ints8 T A 4: 11,225,788 K590* probably null Het
Kcnu1 T C 8: 25,892,122 F500S probably damaging Het
Mrm3 T C 11: 76,247,500 V238A probably damaging Het
Rap1gap2 A G 11: 74,567,210 probably benign Het
Rusc2 T A 4: 43,415,840 V382E possibly damaging Het
Slc9a5 A G 8: 105,355,291 N216S probably damaging Het
Snx7 A T 3: 117,840,023 F63I probably damaging Het
Syne2 A G 12: 75,880,220 probably benign Het
Tenm4 T C 7: 96,874,527 Y1751H probably damaging Het
Trappc9 G A 15: 72,953,082 P366S probably damaging Het
Trim17 A G 11: 58,971,258 D372G possibly damaging Het
Zfp354a G A 11: 51,061,498 G85R probably null Het
Other mutations in Bud13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Bud13 APN 9 46283052 missense probably benign
R1587:Bud13 UTSW 9 46290215 missense probably damaging 0.98
R1808:Bud13 UTSW 9 46288407 missense probably benign 0.00
R1840:Bud13 UTSW 9 46286408 missense probably damaging 1.00
R2517:Bud13 UTSW 9 46288148 missense probably benign 0.39
R3838:Bud13 UTSW 9 46290192 missense possibly damaging 0.68
R4194:Bud13 UTSW 9 46298495 missense probably damaging 1.00
R5474:Bud13 UTSW 9 46287953 missense probably damaging 0.97
R5510:Bud13 UTSW 9 46292200 missense probably damaging 1.00
R5761:Bud13 UTSW 9 46288052 missense probably benign 0.00
R7248:Bud13 UTSW 9 46283115 nonsense probably null
R7420:Bud13 UTSW 9 46287815 missense probably benign 0.10
R7432:Bud13 UTSW 9 46287074 missense probably benign 0.01
R7444:Bud13 UTSW 9 46298501 missense probably damaging 1.00
Z1177:Bud13 UTSW 9 46291740 missense probably damaging 1.00
Posted On2012-11-20