Incidental Mutation 'R5761:Bud13'
ID 445310
Institutional Source Beutler Lab
Gene Symbol Bud13
Ensembl Gene ENSMUSG00000032077
Gene Name BUD13 homolog
Synonyms D030060M11Rik
MMRRC Submission 043363-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.955) question?
Stock # R5761 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 46194281-46210084 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 46199350 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 237 (A237V)
Ref Sequence ENSEMBL: ENSMUSP00000074490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074957] [ENSMUST00000213932]
AlphaFold Q8R149
Predicted Effect probably benign
Transcript: ENSMUST00000074957
AA Change: A237V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077
AA Change: A237V

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: ENSMUST00000124887
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: 99.5%
  • 3x: 98.8%
  • 10x: 97.3%
  • 20x: 95.2%
Validation Efficiency 99% (67/68)
Allele List at MGI
Other mutations in this stock
Total: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca6 A T 11: 110,100,927 (GRCm39) V953D probably damaging Het
Abcb8 T C 5: 24,610,879 (GRCm39) probably benign Het
Acad12 A T 5: 121,742,243 (GRCm39) probably benign Het
Adam2 A T 14: 66,283,595 (GRCm39) C436S probably damaging Het
Aebp2 T C 6: 140,569,943 (GRCm39) probably benign Het
Akap8 A T 17: 32,536,159 (GRCm39) C85S possibly damaging Het
Aldh1a3 C A 7: 66,068,927 (GRCm39) R19L probably damaging Het
Baz2a A G 10: 127,955,559 (GRCm39) T848A possibly damaging Het
Cbarp CGCCTCTGCTGCCTCT CGCCTCT 10: 79,968,067 (GRCm39) probably benign Het
Ccdc187 G A 2: 26,166,104 (GRCm39) P775L possibly damaging Het
Ccz1 C T 5: 143,929,328 (GRCm39) G367R probably damaging Het
Cep104 T C 4: 154,065,681 (GRCm39) V56A possibly damaging Het
Chd6 C A 2: 160,798,998 (GRCm39) R2362S probably damaging Het
Chd6 C T 2: 160,798,999 (GRCm39) R2362K probably damaging Het
Cmc1 T C 9: 117,944,443 (GRCm39) E25G probably benign Het
Cntnap5b T C 1: 100,374,619 (GRCm39) S1123P probably damaging Het
Col4a3 T A 1: 82,693,778 (GRCm39) L66* probably null Het
Crmp1 A G 5: 37,440,212 (GRCm39) T329A probably benign Het
Cybb C G X: 9,316,989 (GRCm39) D246H probably benign Het
Cyp3a16 A G 5: 145,378,843 (GRCm39) S393P possibly damaging Het
Cyp4f18 T A 8: 72,749,975 (GRCm39) I225F probably damaging Het
Ddhd2 A G 8: 26,231,726 (GRCm39) V432A probably benign Het
Ecpas T C 4: 58,853,131 (GRCm39) I401M probably damaging Het
Foxq1 G A 13: 31,743,314 (GRCm39) A139T probably damaging Het
Gm10428 G T 11: 62,644,169 (GRCm39) probably benign Het
Gpr89 A G 3: 96,800,196 (GRCm39) L134P probably damaging Het
Hjv T C 3: 96,435,938 (GRCm39) S399P probably benign Het
Hrc A T 7: 44,986,025 (GRCm39) probably null Het
Igf1r T A 7: 67,857,001 (GRCm39) Y988N probably damaging Het
Igf2r A C 17: 12,917,239 (GRCm39) probably null Het
Itga2b A G 11: 102,357,100 (GRCm39) F260S probably benign Het
Kif2a T A 13: 107,098,672 (GRCm39) N698I probably benign Het
Lap3 A C 5: 45,662,147 (GRCm39) I316L probably benign Het
Map2k6 T G 11: 110,290,197 (GRCm39) probably benign Het
Mtrex T A 13: 113,054,196 (GRCm39) I146F probably damaging Het
Myh1 A G 11: 67,110,078 (GRCm39) E1422G probably damaging Het
Ncoa6 A G 2: 155,250,061 (GRCm39) V1081A probably benign Het
Nom1 A G 5: 29,642,639 (GRCm39) E380G probably damaging Het
Nwd2 A T 5: 63,882,573 (GRCm39) Y75F probably damaging Het
Or3a1b T A 11: 74,012,335 (GRCm39) D73E probably damaging Het
Or51a24 G A 7: 103,733,376 (GRCm39) R304W probably benign Het
Pkd1l1 A G 11: 8,866,301 (GRCm39) V518A probably damaging Het
Ptgs2 A G 1: 149,981,279 (GRCm39) M521V probably benign Het
Qsox1 T A 1: 155,655,274 (GRCm39) M630L probably benign Het
Spty2d1 A G 7: 46,648,032 (GRCm39) L299P probably damaging Het
St6gal1 T G 16: 23,139,805 (GRCm39) probably benign Het
Sult2a6 T C 7: 13,984,283 (GRCm39) Y149C probably damaging Het
Tlr3 G A 8: 45,855,808 (GRCm39) T124M probably benign Het
Tmem171 A G 13: 98,829,019 (GRCm39) Y44H probably damaging Het
Usp35 C T 7: 96,961,558 (GRCm39) V623I probably benign Het
Vangl2 T A 1: 171,833,694 (GRCm39) H463L probably damaging Het
Vmn1r175 A C 7: 23,507,905 (GRCm39) L241V probably benign Het
Vmn1r19 A T 6: 57,382,338 (GRCm39) K297I unknown Het
Vmn2r23 C A 6: 123,689,718 (GRCm39) T198K probably benign Het
Vmn2r-ps69 T A 7: 84,953,223 (GRCm39) noncoding transcript Het
Xirp2 A G 2: 67,341,311 (GRCm39) Y1184C probably benign Het
Ythdc1 A G 5: 86,983,810 (GRCm39) probably benign Het
Zbtb39 C T 10: 127,578,515 (GRCm39) A363V probably damaging Het
Zmiz1 T A 14: 25,651,728 (GRCm39) I527K possibly damaging Het
Zmiz1 C A 14: 25,651,730 (GRCm39) P534T probably damaging Het
Other mutations in Bud13
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02323:Bud13 APN 9 46,194,350 (GRCm39) missense probably benign
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
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
Predicted Primers PCR Primer
(F):5'- AGAAAGGCCCGTCATGACAC -3'
(R):5'- CCAAATCAGGGGACTCATGATG -3'

Sequencing Primer
(F):5'- AGGAAGGCCCGTCATGACAC -3'
(R):5'- ATGATGGGCCCTCCTGAGATG -3'
Posted On 2016-11-21