Incidental Mutation 'R7895:Bbof1'
ID 609627
Institutional Source Beutler Lab
Gene Symbol Bbof1
Ensembl Gene ENSMUSG00000057265
Gene Name basal body orientation factor 1
Synonyms 2900006K08Rik, Ccdc176
MMRRC Submission 045947-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.097) question?
Stock # R7895 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 84455243-84488279 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 84466763 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 177 (R177G)
Ref Sequence ENSEMBL: ENSMUSP00000080512 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081828] [ENSMUST00000151789] [ENSMUST00000153540] [ENSMUST00000183146]
AlphaFold Q3V079
Predicted Effect probably damaging
Transcript: ENSMUST00000081828
AA Change: R177G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080512
Gene: ENSMUSG00000057265
AA Change: R177G

DomainStartEndE-ValueType
low complexity region 4 29 N/A INTRINSIC
Pfam:DUF4515 83 276 1.8e-44 PFAM
coiled coil region 277 308 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000151789
AA Change: R76G

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115708
Gene: ENSMUSG00000057265
AA Change: R76G

DomainStartEndE-ValueType
Pfam:DUF4515 1 138 6.7e-29 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000153540
AA Change: R6G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000114625
Gene: ENSMUSG00000057265
AA Change: R6G

DomainStartEndE-ValueType
Pfam:DUF4515 1 105 3.9e-19 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000183146
SMART Domains Protein: ENSMUSP00000138536
Gene: ENSMUSG00000098134

DomainStartEndE-ValueType
low complexity region 39 52 N/A INTRINSIC
ZnF_C3H1 196 223 1.8e-7 SMART
RING 262 299 4.05e-5 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 99% (92/93)
Allele List at MGI
Other mutations in this stock
Total: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2700097O09Rik A T 12: 55,106,295 (GRCm39) S143T probably benign Het
9030624G23Rik A T 12: 24,094,724 (GRCm39) M149K unknown Het
Aadacl4fm4 A T 4: 144,396,913 (GRCm39) I273K possibly damaging Het
Agpat3 T A 10: 78,119,034 (GRCm39) I187F probably benign Het
Ahcyl1 C T 3: 107,576,467 (GRCm39) A332T probably damaging Het
Aldh3b3 A G 19: 4,014,871 (GRCm39) I123V possibly damaging Het
Ap5z1 T A 5: 142,456,313 (GRCm39) probably null Het
Apob A T 12: 8,061,933 (GRCm39) I3472F probably benign Het
Arhgef33 C T 17: 80,680,914 (GRCm39) P685S probably benign Het
Arhgef4 T C 1: 34,845,478 (GRCm39) I130T probably damaging Het
Arnt2 A T 7: 83,954,406 (GRCm39) F263I probably benign Het
Bbs2 C A 8: 94,807,764 (GRCm39) G372W probably damaging Het
Blmh T A 11: 76,836,721 (GRCm39) probably null Het
Ccdc30 A T 4: 119,209,910 (GRCm39) probably null Het
Cdca7l G T 12: 117,837,467 (GRCm39) L219F probably damaging Het
Cenpu C A 8: 47,015,499 (GRCm39) A138E probably benign Het
Cfap65 T A 1: 74,972,321 (GRCm39) T13S probably benign Het
Clasp2 A G 9: 113,733,016 (GRCm39) M951V probably benign Het
Clca4a A G 3: 144,674,166 (GRCm39) S190P probably benign Het
Clcn4 A G 7: 7,298,167 (GRCm39) V74A probably benign Het
Cntln C T 4: 84,981,561 (GRCm39) T913M possibly damaging Het
Cntnap4 T A 8: 113,478,829 (GRCm39) V185E probably damaging Het
Col26a1 C T 5: 136,777,031 (GRCm39) probably null Het
Ctcf A T 8: 106,390,690 (GRCm39) Q99L possibly damaging Het
Dgke T C 11: 88,931,682 (GRCm39) Q524R probably damaging Het
Dhrs7 A T 12: 72,699,234 (GRCm39) probably null Het
Dnah7b T C 1: 46,289,110 (GRCm39) Y2969H probably damaging Het
Dync1h1 T G 12: 110,582,891 (GRCm39) I358S probably damaging Het
Efcab3 A C 11: 105,008,150 (GRCm39) D410A probably benign Het
Emilin2 T C 17: 71,580,908 (GRCm39) D606G probably benign Het
Ermard C T 17: 15,283,875 (GRCm39) T622I possibly damaging Het
Exo1 A G 1: 175,728,562 (GRCm39) D542G probably benign Het
Fgd5 A T 6: 91,964,262 (GRCm39) D165V probably benign Het
Gdap1 T C 1: 17,231,368 (GRCm39) W238R probably damaging Het
Gm11096 T G 17: 81,749,328 (GRCm39) I7M unknown Het
Gm40460 ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG 7: 141,794,450 (GRCm39) probably benign Het
Gmppb A T 9: 107,927,770 (GRCm39) M175L probably benign Het
Gorasp2 G A 2: 70,514,442 (GRCm39) S273N probably benign Het
Gtf3c1 T C 7: 125,271,994 (GRCm39) M642V possibly damaging Het
Hmx2 T A 7: 131,157,600 (GRCm39) L238Q probably damaging Het
Kif13b A G 14: 64,973,598 (GRCm39) D316G probably damaging Het
Kmt2c A G 5: 25,578,174 (GRCm39) S701P possibly damaging Het
Lama4 T A 10: 38,964,325 (GRCm39) N1332K probably damaging Het
Lrp2 T C 2: 69,288,823 (GRCm39) D3681G probably damaging Het
Maml3 G T 3: 51,605,143 (GRCm39) P722Q probably damaging Het
Mier2 C A 10: 79,377,719 (GRCm39) probably benign Het
Ms4a15 A T 19: 10,956,694 (GRCm39) probably null Het
Msh5 T C 17: 35,263,355 (GRCm39) M158V probably benign Het
Nova2 A T 7: 18,676,270 (GRCm39) K136I Het
Npm1 A T 11: 33,106,001 (GRCm39) probably null Het
Nr4a3 T A 4: 48,051,390 (GRCm39) M48K probably benign Het
Nrap T G 19: 56,342,584 (GRCm39) T806P probably benign Het
Ntf3 G A 6: 126,079,203 (GRCm39) T101M probably benign Het
Or2aj4 G A 16: 19,385,472 (GRCm39) R54* probably null Het
Paxbp1 T A 16: 90,822,166 (GRCm39) D648V probably damaging Het
Pcdhb18 T A 18: 37,623,520 (GRCm39) D283E probably benign Het
Phrf1 C A 7: 140,839,288 (GRCm39) Q828K unknown Het
Pigq A T 17: 26,156,299 (GRCm39) I43N probably benign Het
Pou6f2 G T 13: 18,300,033 (GRCm39) T542K Het
Ppfibp2 T A 7: 107,320,524 (GRCm39) probably null Het
Rab1b A T 19: 5,150,524 (GRCm39) M163K probably benign Het
Ralgapa1 A G 12: 55,793,934 (GRCm39) M567T probably benign Het
Reck T C 4: 43,890,970 (GRCm39) V36A probably benign Het
Resp18 C T 1: 75,254,846 (GRCm39) D36N probably null Het
Rint1 A C 5: 24,005,720 (GRCm39) H134P probably damaging Het
Rps19 A T 7: 24,587,764 (GRCm39) K77M possibly damaging Het
Sec24b A T 3: 129,789,598 (GRCm39) S808T probably benign Het
Sema4c A C 1: 36,592,199 (GRCm39) V216G probably damaging Het
Septin10 T A 10: 59,016,871 (GRCm39) T218S probably benign Het
Septin3 A T 15: 82,170,020 (GRCm39) H182L probably benign Het
Sipa1 A G 19: 5,702,690 (GRCm39) S836P probably benign Het
Slc9a5 A G 8: 106,089,998 (GRCm39) K652R probably damaging Het
Slco5a1 T A 1: 13,059,927 (GRCm39) I265F possibly damaging Het
Snapc5 T A 9: 64,086,614 (GRCm39) M1K probably null Het
Snx5 T A 2: 144,095,740 (GRCm39) D307V possibly damaging Het
Srebf2 A T 15: 82,061,441 (GRCm39) M381L probably benign Het
Ssh2 G C 11: 77,345,452 (GRCm39) E1146Q probably benign Het
Suco A T 1: 161,672,937 (GRCm39) probably null Het
Tanc2 T A 11: 105,812,651 (GRCm39) L1365Q probably damaging Het
Tas1r3 A G 4: 155,947,005 (GRCm39) L200P probably damaging Het
Thbs2 T G 17: 14,896,483 (GRCm39) D802A probably damaging Het
Trav3-1 G A 14: 52,818,550 (GRCm39) V75M probably benign Het
Trim9 G A 12: 70,301,961 (GRCm39) P559L probably benign Het
Trpc6 G A 9: 8,655,219 (GRCm39) G683D probably damaging Het
Unc5b C A 10: 60,615,509 (GRCm39) V164L possibly damaging Het
Usf3 A T 16: 44,036,565 (GRCm39) R348S possibly damaging Het
Vmn1r236 T C 17: 21,507,728 (GRCm39) V282A possibly damaging Het
Vmn2r1 A G 3: 63,997,130 (GRCm39) E262G possibly damaging Het
Xirp2 A G 2: 67,339,841 (GRCm39) E694G probably damaging Het
Xpo4 T A 14: 57,840,048 (GRCm39) H572L probably benign Het
Zfhx4 A G 3: 5,307,259 (GRCm39) T162A probably benign Het
Zfp110 T A 7: 12,571,020 (GRCm39) H59Q possibly damaging Het
Other mutations in Bbof1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01509:Bbof1 APN 12 84,457,859 (GRCm39) missense possibly damaging 0.92
IGL02572:Bbof1 APN 12 84,475,139 (GRCm39) missense probably damaging 1.00
IGL02933:Bbof1 APN 12 84,473,740 (GRCm39) missense probably damaging 1.00
IGL03099:Bbof1 APN 12 84,473,539 (GRCm39) nonsense probably null
P4717OSA:Bbof1 UTSW 12 84,473,734 (GRCm39) missense probably damaging 1.00
R0100:Bbof1 UTSW 12 84,457,829 (GRCm39) missense probably benign 0.00
R0100:Bbof1 UTSW 12 84,457,829 (GRCm39) missense probably benign 0.00
R0230:Bbof1 UTSW 12 84,471,978 (GRCm39) missense probably damaging 1.00
R0511:Bbof1 UTSW 12 84,477,045 (GRCm39) missense probably benign 0.02
R1506:Bbof1 UTSW 12 84,470,273 (GRCm39) missense probably damaging 0.97
R1920:Bbof1 UTSW 12 84,457,859 (GRCm39) missense possibly damaging 0.92
R2097:Bbof1 UTSW 12 84,460,081 (GRCm39) missense probably damaging 1.00
R2355:Bbof1 UTSW 12 84,470,223 (GRCm39) missense probably damaging 1.00
R3935:Bbof1 UTSW 12 84,457,984 (GRCm39) missense probably damaging 1.00
R4210:Bbof1 UTSW 12 84,455,957 (GRCm39) start codon destroyed probably null
R4321:Bbof1 UTSW 12 84,473,902 (GRCm39) nonsense probably null
R5001:Bbof1 UTSW 12 84,473,630 (GRCm39) missense possibly damaging 0.80
R5033:Bbof1 UTSW 12 84,458,044 (GRCm39) splice site probably null
R5244:Bbof1 UTSW 12 84,476,847 (GRCm39) missense possibly damaging 0.56
R6169:Bbof1 UTSW 12 84,473,588 (GRCm39) missense probably benign 0.02
R6295:Bbof1 UTSW 12 84,457,942 (GRCm39) missense possibly damaging 0.58
R7073:Bbof1 UTSW 12 84,473,609 (GRCm39) missense probably damaging 1.00
R8050:Bbof1 UTSW 12 84,457,991 (GRCm39) missense probably benign 0.01
R8163:Bbof1 UTSW 12 84,473,536 (GRCm39) missense possibly damaging 0.93
R8398:Bbof1 UTSW 12 84,475,188 (GRCm39) missense probably damaging 1.00
R8796:Bbof1 UTSW 12 84,460,068 (GRCm39) missense possibly damaging 0.80
R9352:Bbof1 UTSW 12 84,461,394 (GRCm39) missense probably benign 0.44
X0019:Bbof1 UTSW 12 84,473,567 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- ATATCTGAATGCCCTAGGAACTG -3'
(R):5'- GGTGCATATGAACACACCTTG -3'

Sequencing Primer
(F):5'- CTGAATGCCCTAGGAACTGTTATTC -3'
(R):5'- CTGACAACAGCGTTTGGAATAGTCTG -3'
Posted On 2019-12-20