Incidental Mutation 'R5822:Bud23'
ID 501599
Institutional Source Beutler Lab
Gene Symbol Bud23
Ensembl Gene ENSMUSG00000005378
Gene Name BUD23, rRNA methyltransferase and ribosome maturation factor
Synonyms 1110003N24Rik, Wbscr22
MMRRC Submission 044052-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5822 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 135081811-135093813 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 135092775 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 9 (F9L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071263] [ENSMUST00000071677] [ENSMUST00000085984] [ENSMUST00000111205] [ENSMUST00000141309] [ENSMUST00000148549] [ENSMUST00000201554]
AlphaFold Q9CY21
Predicted Effect probably benign
Transcript: ENSMUST00000071263
SMART Domains Protein: ENSMUSP00000094318
Gene: ENSMUSG00000061118

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
DnaJ 41 99 8.75e-19 SMART
low complexity region 123 141 N/A INTRINSIC
low complexity region 167 187 N/A INTRINSIC
low complexity region 204 217 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000071677
SMART Domains Protein: ENSMUSP00000071600
Gene: ENSMUSG00000005378

DomainStartEndE-ValueType
Pfam:Methyltransf_11 36 120 4.7e-13 PFAM
Pfam:WBS_methylT 182 258 9.6e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000085984
AA Change: F17L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000083146
Gene: ENSMUSG00000005378
AA Change: F17L

DomainStartEndE-ValueType
Pfam:Methyltransf_11 58 143 5.3e-11 PFAM
Pfam:WBS_methylT 204 279 1.1e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111205
AA Change: F17L

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000106836
Gene: ENSMUSG00000005378
AA Change: F17L

DomainStartEndE-ValueType
Pfam:Methyltransf_11 58 142 1.1e-12 PFAM
Pfam:WBS_methylT 168 245 1.3e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129013
Predicted Effect probably benign
Transcript: ENSMUST00000141309
Predicted Effect probably damaging
Transcript: ENSMUST00000202478
AA Change: F9L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000148549
SMART Domains Protein: ENSMUSP00000118370
Gene: ENSMUSG00000005378

DomainStartEndE-ValueType
Pfam:Methyltransf_23 3 89 1.4e-8 PFAM
Pfam:Methyltransf_11 27 93 5.1e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144891
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141765
Predicted Effect probably benign
Transcript: ENSMUST00000201554
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149108
Meta Mutation Damage Score 0.3150 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.2%
  • 20x: 94.8%
Validation Efficiency 96% (54/56)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing a nuclear localization signal and an S-adenosyl-L-methionine binding motif typical of methyltransferases, suggesting that the encoded protein may act on DNA methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively spliced transcript variants have been found. [provided by RefSeq, Feb 2011]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930553M12Rik T C 4: 88,786,596 (GRCm39) I7M unknown Het
Abca8a C T 11: 109,921,705 (GRCm39) E1450K probably damaging Het
B4galnt2 T C 11: 95,756,985 (GRCm39) Y482C probably damaging Het
Cacna1s A T 1: 136,039,816 (GRCm39) E1214V probably damaging Het
Cdh20 T C 1: 104,861,823 (GRCm39) M1T probably null Het
Chkb T C 15: 89,313,715 (GRCm39) E30G probably benign Het
Crp A C 1: 172,525,635 (GRCm39) probably benign Het
Cyp11b1 T C 15: 74,708,670 (GRCm39) R375G probably null Het
Ddx11 C T 17: 66,436,976 (GRCm39) S90L probably benign Het
Flnc A C 6: 29,459,429 (GRCm39) I2510L probably damaging Het
Ftdc1 C A 16: 58,436,075 (GRCm39) probably null Het
Fyb1 T A 15: 6,692,707 (GRCm39) probably benign Het
Gbp3 C T 3: 142,272,239 (GRCm39) P247L probably benign Het
Ggn C T 7: 28,871,981 (GRCm39) P454S probably damaging Het
Herc1 T A 9: 66,352,894 (GRCm39) S2127T probably benign Het
Ipo11 A G 13: 106,984,926 (GRCm39) probably benign Het
Kcnh7 G A 2: 62,546,582 (GRCm39) R1000W probably benign Het
Kdm5b A T 1: 134,516,511 (GRCm39) probably benign Het
Klc3 C T 7: 19,129,724 (GRCm39) probably null Het
Lst1 A T 17: 35,407,359 (GRCm39) M3K unknown Het
Madd C T 2: 90,982,878 (GRCm39) R1355Q probably damaging Het
Map3k10 A G 7: 27,356,159 (GRCm39) L920P probably damaging Het
Mdga2 A G 12: 66,702,109 (GRCm39) V423A probably damaging Het
Mogat2 T C 7: 98,869,112 (GRCm39) D302G possibly damaging Het
Nkapl A C 13: 21,652,593 (GRCm39) S7A unknown Het
Npas2 A G 1: 39,386,647 (GRCm39) S639G probably benign Het
Nr1h5 T G 3: 102,856,644 (GRCm39) H260P probably damaging Het
Or2g25 T C 17: 37,971,122 (GRCm39) Y34C probably damaging Het
Or2t49 A T 11: 58,392,464 (GRCm39) L306Q possibly damaging Het
Or4c35 T C 2: 89,808,787 (GRCm39) S222P probably damaging Het
Or7a36 C T 10: 78,820,023 (GRCm39) T133I possibly damaging Het
Or8a1b T C 9: 37,623,087 (GRCm39) M163V probably benign Het
Pan2 T C 10: 128,156,249 (GRCm39) L1142P probably damaging Het
Pdik1l C T 4: 134,014,474 (GRCm39) E11K possibly damaging Het
Ppp1r15a A G 7: 45,172,727 (GRCm39) V555A probably damaging Het
Ppp6c G A 2: 39,090,064 (GRCm39) Q81* probably null Het
Pramel18 A G 4: 101,767,440 (GRCm39) M230V probably damaging Het
Ptprz1 A T 6: 23,001,444 (GRCm39) Y1178F probably benign Het
Relch G A 1: 105,646,581 (GRCm39) V660M probably damaging Het
Rictor G A 15: 6,823,487 (GRCm39) E1555K probably benign Het
Rims2 T A 15: 39,339,886 (GRCm39) L860Q probably damaging Het
Sdr39u1 A G 14: 56,135,196 (GRCm39) V249A probably benign Het
Serhl T C 15: 83,000,528 (GRCm39) V305A probably benign Het
Slc5a11 T C 7: 122,851,654 (GRCm39) I201T probably damaging Het
Stk32a A T 18: 43,446,552 (GRCm39) E334V probably benign Het
Tmem217 A G 17: 29,745,529 (GRCm39) L67P probably damaging Het
Tnnt1 A T 7: 4,519,345 (GRCm39) L12* probably null Het
Trim80 C T 11: 115,338,747 (GRCm39) R526C probably damaging Het
Unc5b A T 10: 60,608,306 (GRCm39) F635I possibly damaging Het
Utp20 T G 10: 88,653,147 (GRCm39) N311T probably benign Het
Zfp276 A G 8: 123,982,457 (GRCm39) T74A probably benign Het
Other mutations in Bud23
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01097:Bud23 APN 5 135,089,935 (GRCm39) missense probably damaging 0.99
IGL03281:Bud23 APN 5 135,092,741 (GRCm39) missense probably benign 0.01
R1103:Bud23 UTSW 5 135,089,993 (GRCm39) missense probably damaging 1.00
R1765:Bud23 UTSW 5 135,084,897 (GRCm39) missense probably benign 0.00
R3710:Bud23 UTSW 5 135,085,204 (GRCm39) missense possibly damaging 0.54
R4486:Bud23 UTSW 5 135,092,779 (GRCm39) splice site probably null
R5109:Bud23 UTSW 5 135,089,877 (GRCm39) intron probably benign
R5550:Bud23 UTSW 5 135,092,744 (GRCm39) missense probably benign
R5614:Bud23 UTSW 5 135,087,966 (GRCm39) missense probably benign 0.00
R7575:Bud23 UTSW 5 135,089,982 (GRCm39) nonsense probably null
R9573:Bud23 UTSW 5 135,082,274 (GRCm39) missense possibly damaging 0.95
R9608:Bud23 UTSW 5 135,086,526 (GRCm39) critical splice acceptor site probably null
R9673:Bud23 UTSW 5 135,082,571 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- CTTTACCGGTGGCAGAACTG -3'
(R):5'- AATGGAGGCCTCGAATCCTG -3'

Sequencing Primer
(F):5'- TGCATGTACGCAGACCCAC -3'
(R):5'- GGCGCAGATTGATGACGTC -3'
Posted On 2017-12-01