Incidental Mutation 'R9612:Bdp1'
ID 724341
Institutional Source Beutler Lab
Gene Symbol Bdp1
Ensembl Gene ENSMUSG00000049658
Gene Name B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB
Synonyms Tfnr, TFIIIB90, TFC5, B130055N23Rik, TAF3B1, TFIIIB150, G630013P12Rik
MMRRC Submission
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R9612 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 100154502-100240578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100214370 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 490 (S490P)
Ref Sequence ENSEMBL: ENSMUSP00000105005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379]
AlphaFold Q571C7
Predicted Effect possibly damaging
Transcript: ENSMUST00000038104
AA Change: S490P

PolyPhen 2 Score 0.476 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: S490P

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
SANT 301 349 1.52e-4 SMART
coiled coil region 375 399 N/A INTRINSIC
coiled coil region 457 487 N/A INTRINSIC
internal_repeat_1 593 895 3.56e-18 PROSPERO
coiled coil region 1013 1038 N/A INTRINSIC
internal_repeat_1 1253 1612 3.56e-18 PROSPERO
low complexity region 1718 1733 N/A INTRINSIC
low complexity region 1763 1774 N/A INTRINSIC
low complexity region 1912 1921 N/A INTRINSIC
low complexity region 2185 2199 N/A INTRINSIC
low complexity region 2335 2346 N/A INTRINSIC
low complexity region 2398 2412 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000109379
AA Change: S490P

PolyPhen 2 Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: S490P

DomainStartEndE-ValueType
low complexity region 25 45 N/A INTRINSIC
low complexity region 81 92 N/A INTRINSIC
low complexity region 147 164 N/A INTRINSIC
low complexity region 231 242 N/A INTRINSIC
SANT 301 349 1.52e-4 SMART
coiled coil region 457 487 N/A INTRINSIC
internal_repeat_1 593 895 4.79e-19 PROSPERO
coiled coil region 1013 1038 N/A INTRINSIC
internal_repeat_1 1253 1612 4.79e-19 PROSPERO
low complexity region 1718 1733 N/A INTRINSIC
low complexity region 1763 1774 N/A INTRINSIC
low complexity region 1912 1921 N/A INTRINSIC
low complexity region 2185 2199 N/A INTRINSIC
low complexity region 2335 2346 N/A INTRINSIC
low complexity region 2398 2412 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The product of this gene is a subunit of the TFIIIB transcription initiation complex, which recruits RNA polymerase III to target promoters in order to initiate transcription. The encoded protein localizes to concentrated aggregates in the nucleus, and is required for transcription from all three types of polymerase III promoters. It is phosphorylated by casein kinase II during mitosis, resulting in its release from chromatin and suppression of polymerase III transcription. [provided by RefSeq, Jul 2008]
Allele List at MGI

All alleles(4) : Gene trapped(4)

Other mutations in this stock
Total: 96 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2610021A01Rik T C 7: 41,276,327 (GRCm39) S677P possibly damaging Het
5730480H06Rik A G 5: 48,531,872 (GRCm39) I67V probably benign Het
Adam15 T A 3: 89,249,247 (GRCm39) Y736F probably damaging Het
Adam29 A T 8: 56,325,118 (GRCm39) F445L possibly damaging Het
Adgrv1 A G 13: 81,641,082 (GRCm39) Y3318H probably damaging Het
Akap6 A G 12: 52,958,690 (GRCm39) Y815C probably damaging Het
Ankar T A 1: 72,704,294 (GRCm39) D876V possibly damaging Het
Atp6v1g2 G A 17: 35,456,733 (GRCm39) V106I probably benign Het
Bet1 A T 6: 4,077,918 (GRCm39) V107D probably damaging Het
Bri3bp T C 5: 125,531,390 (GRCm39) V112A probably damaging Het
Cage1 T A 13: 38,216,351 (GRCm39) D33V probably damaging Het
Ccdc146 G T 5: 21,535,577 (GRCm39) A159E probably damaging Het
Ccnl1 C A 3: 65,865,404 (GRCm39) G49V probably damaging Het
Cdk13 A C 13: 17,926,440 (GRCm39) F787V Het
Cdk5r1 T C 11: 80,368,480 (GRCm39) V49A probably benign Het
Cdon G A 9: 35,398,201 (GRCm39) V973I probably damaging Het
Cfap298 A T 16: 90,724,275 (GRCm39) M166K probably benign Het
Chd1l T A 3: 97,488,463 (GRCm39) K518* probably null Het
Col24a1 A G 3: 145,250,960 (GRCm39) D1653G probably benign Het
Cstf3 G T 2: 104,483,370 (GRCm39) V359F possibly damaging Het
Dchs2 T C 3: 83,178,193 (GRCm39) I1082T probably damaging Het
Dlec1 A T 9: 118,956,533 (GRCm39) I736F probably damaging Het
Dnah9 T C 11: 65,818,475 (GRCm39) N3288D probably benign Het
Dpcd G T 19: 45,560,422 (GRCm39) E82* probably null Het
Ehbp1 T C 11: 22,119,124 (GRCm39) D182G probably damaging Het
Eif1ad13 A G 12: 87,762,507 (GRCm39) I76V probably benign Het
Evc2 G T 5: 37,544,130 (GRCm39) E626D probably benign Het
Evi5 T C 5: 107,943,578 (GRCm39) E589G probably benign Het
Exoc4 T C 6: 33,226,161 (GRCm39) I25T probably benign Het
Extl2 T A 3: 115,821,145 (GRCm39) *331R probably null Het
Fkbp8 G A 8: 70,984,324 (GRCm39) R225H probably damaging Het
Foxred2 A T 15: 77,836,206 (GRCm39) S384T probably damaging Het
Garre1 A T 7: 33,947,656 (GRCm39) C451S probably damaging Het
Glmn T C 5: 107,741,731 (GRCm39) E18G probably damaging Het
Gm7489 A C 15: 53,749,369 (GRCm39) Q147P unknown Het
Gm7489 C A 15: 53,749,368 (GRCm39) Q147K unknown Het
Gm8005 T A 14: 42,260,355 (GRCm39) I94F Het
Golgb1 G A 16: 36,739,967 (GRCm39) V2810M probably benign Het
Gpr21 T C 2: 37,408,399 (GRCm39) L315P probably damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
Herc6 T G 6: 57,629,017 (GRCm39) S643A probably benign Het
Igkv14-100 T A 6: 68,496,317 (GRCm39) I70N probably damaging Het
Kcnn3 A G 3: 89,516,703 (GRCm39) M371V probably benign Het
Kif1a T A 1: 92,953,416 (GRCm39) H1256L probably damaging Het
Klhdc4 A G 8: 122,527,917 (GRCm39) S266P possibly damaging Het
Kmt2d CTGTTG CTG 15: 98,743,057 (GRCm39) probably benign Het
Lefty2 T A 1: 180,722,286 (GRCm39) L208Q probably damaging Het
Lingo2 T C 4: 35,708,450 (GRCm39) Y510C probably damaging Het
Lrif1 T A 3: 106,639,200 (GRCm39) V70D probably damaging Het
Lrrc74a A T 12: 86,805,345 (GRCm39) K389I possibly damaging Het
Megf8 A T 7: 25,054,488 (GRCm39) E1868V probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp8 A G 9: 7,560,608 (GRCm39) D95G probably damaging Het
Mmrn1 T A 6: 60,953,408 (GRCm39) I563N probably damaging Het
Mroh3 T C 1: 136,118,713 (GRCm39) T535A probably benign Het
Mroh9 A G 1: 162,866,498 (GRCm39) L715P probably damaging Het
Myh6 G T 14: 55,201,054 (GRCm39) A136E probably benign Het
Myom1 G T 17: 71,412,475 (GRCm39) E1231* probably null Het
Nod2 G T 8: 89,397,101 (GRCm39) C837F probably benign Het
Nos2 T A 11: 78,839,984 (GRCm39) W698R probably damaging Het
Nup210l C T 3: 90,107,173 (GRCm39) P1570L probably benign Het
Oas1a A T 5: 121,040,028 (GRCm39) S188T possibly damaging Het
Ogfr GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG 2: 180,237,059 (GRCm39) probably benign Het
Opa1 T C 16: 29,430,255 (GRCm39) M394T Het
Or1e1d-ps1 T A 11: 73,819,375 (GRCm39) D108E possibly damaging Het
Or5an6 A T 19: 12,371,983 (GRCm39) M119L probably damaging Het
Or5p66 A G 7: 107,885,487 (GRCm39) M282T probably benign Het
Or7g21 T A 9: 19,032,760 (GRCm39) S167T probably benign Het
Or7g29 A G 9: 19,286,677 (GRCm39) S167P possibly damaging Het
Oxct2a T A 4: 123,217,129 (GRCm39) D84V probably damaging Het
Oxct2b A C 4: 123,011,019 (GRCm39) D313A probably damaging Het
Phldb3 G A 7: 24,328,372 (GRCm39) V639M probably damaging Het
Plppr4 T A 3: 117,115,610 (GRCm39) N749I probably benign Het
Pmp22 G T 11: 63,024,065 (GRCm39) V25F probably benign Het
Pofut2 A T 10: 77,101,763 (GRCm39) M267L probably benign Het
Ppp1r42 T A 1: 10,039,067 (GRCm39) N351I possibly damaging Het
Prl2b1 T C 13: 27,572,479 (GRCm39) E37G probably benign Het
Ptpro G T 6: 137,391,318 (GRCm39) V813F probably benign Het
Rnaseh2c T C 19: 5,652,343 (GRCm39) F99L probably benign Het
Scn9a T A 2: 66,363,708 (GRCm39) I857F probably damaging Het
Slf1 A G 13: 77,197,204 (GRCm39) probably null Het
Smyd2 T C 1: 189,612,983 (GRCm39) *434W probably null Het
Spata31h1 T A 10: 82,125,453 (GRCm39) N2519I possibly damaging Het
Stk40 A G 4: 126,030,650 (GRCm39) D290G probably damaging Het
Tdo2 C A 3: 81,879,001 (GRCm39) W82C probably damaging Het
Tmem101 A G 11: 102,044,194 (GRCm39) V231A probably damaging Het
Tns2 G A 15: 102,015,577 (GRCm39) E160K probably damaging Het
Trim31 A T 17: 37,212,551 (GRCm39) D174V probably benign Het
Unc13d A T 11: 115,961,144 (GRCm39) Y404* probably null Het
Ush2a C A 1: 188,092,063 (GRCm39) Y531* probably null Het
Vapa G A 17: 65,889,736 (GRCm39) P144S probably benign Het
Vmn1r212 C T 13: 23,067,443 (GRCm39) V297M possibly damaging Het
Vmn2r80 A C 10: 79,030,712 (GRCm39) N846T probably damaging Het
Zfp811 A G 17: 33,017,740 (GRCm39) V100A probably benign Het
Zfp958 T A 8: 4,678,298 (GRCm39) C108S probably damaging Het
Zic5 G A 14: 122,697,100 (GRCm39) T505I unknown Het
Other mutations in Bdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Bdp1 APN 13 100,235,018 (GRCm39) missense probably damaging 1.00
IGL00096:Bdp1 APN 13 100,197,373 (GRCm39) missense possibly damaging 0.61
IGL00160:Bdp1 APN 13 100,197,706 (GRCm39) missense probably benign 0.00
IGL00924:Bdp1 APN 13 100,234,087 (GRCm39) missense possibly damaging 0.89
IGL01337:Bdp1 APN 13 100,192,700 (GRCm39) missense probably benign 0.00
IGL01344:Bdp1 APN 13 100,214,588 (GRCm39) missense probably benign 0.06
IGL01347:Bdp1 APN 13 100,206,711 (GRCm39) missense possibly damaging 0.79
IGL01620:Bdp1 APN 13 100,220,713 (GRCm39) splice site probably benign
IGL01871:Bdp1 APN 13 100,202,561 (GRCm39) missense probably benign 0.01
IGL02008:Bdp1 APN 13 100,160,335 (GRCm39) missense possibly damaging 0.92
IGL02112:Bdp1 APN 13 100,174,308 (GRCm39) missense probably benign 0.02
IGL02214:Bdp1 APN 13 100,178,043 (GRCm39) missense probably benign 0.00
IGL02236:Bdp1 APN 13 100,197,399 (GRCm39) missense probably benign
IGL02307:Bdp1 APN 13 100,229,946 (GRCm39) missense probably damaging 1.00
IGL02364:Bdp1 APN 13 100,191,816 (GRCm39) splice site probably benign
IGL02415:Bdp1 APN 13 100,225,916 (GRCm39) missense probably damaging 0.96
IGL02601:Bdp1 APN 13 100,235,022 (GRCm39) missense possibly damaging 0.72
IGL02605:Bdp1 APN 13 100,214,623 (GRCm39) critical splice acceptor site probably null
IGL02664:Bdp1 APN 13 100,188,047 (GRCm39) missense probably benign 0.29
IGL02738:Bdp1 APN 13 100,187,861 (GRCm39) missense probably benign 0.26
IGL02754:Bdp1 APN 13 100,197,481 (GRCm39) missense possibly damaging 0.94
IGL02967:Bdp1 APN 13 100,178,778 (GRCm39) missense possibly damaging 0.92
IGL02974:Bdp1 APN 13 100,191,800 (GRCm39) missense probably benign 0.00
IGL03156:Bdp1 APN 13 100,197,544 (GRCm39) missense probably benign 0.44
IGL03166:Bdp1 APN 13 100,172,308 (GRCm39) missense probably benign 0.28
IGL03232:Bdp1 APN 13 100,187,989 (GRCm39) missense probably damaging 1.00
D3080:Bdp1 UTSW 13 100,160,129 (GRCm39) missense probably benign 0.02
R0115:Bdp1 UTSW 13 100,177,962 (GRCm39) missense probably benign 0.28
R0481:Bdp1 UTSW 13 100,177,962 (GRCm39) missense probably benign 0.28
R0619:Bdp1 UTSW 13 100,174,366 (GRCm39) missense probably benign 0.00
R0730:Bdp1 UTSW 13 100,195,459 (GRCm39) splice site probably benign
R0744:Bdp1 UTSW 13 100,172,333 (GRCm39) missense probably benign 0.01
R0833:Bdp1 UTSW 13 100,172,333 (GRCm39) missense probably benign 0.01
R1307:Bdp1 UTSW 13 100,186,271 (GRCm39) missense possibly damaging 0.89
R1325:Bdp1 UTSW 13 100,235,516 (GRCm39) missense probably damaging 0.97
R1346:Bdp1 UTSW 13 100,215,263 (GRCm39) nonsense probably null
R1644:Bdp1 UTSW 13 100,197,448 (GRCm39) missense probably benign 0.03
R1670:Bdp1 UTSW 13 100,163,941 (GRCm39) critical splice donor site probably null
R1836:Bdp1 UTSW 13 100,171,653 (GRCm39) missense probably benign
R1869:Bdp1 UTSW 13 100,178,709 (GRCm39) missense probably damaging 0.99
R1920:Bdp1 UTSW 13 100,235,097 (GRCm39) missense probably benign 0.30
R1944:Bdp1 UTSW 13 100,210,889 (GRCm39) splice site probably null
R2030:Bdp1 UTSW 13 100,197,697 (GRCm39) missense probably benign 0.00
R2069:Bdp1 UTSW 13 100,187,496 (GRCm39) missense probably benign 0.00
R2180:Bdp1 UTSW 13 100,197,913 (GRCm39) small insertion probably benign
R2263:Bdp1 UTSW 13 100,202,545 (GRCm39) missense probably damaging 0.96
R2277:Bdp1 UTSW 13 100,197,847 (GRCm39) missense probably damaging 1.00
R2277:Bdp1 UTSW 13 100,197,838 (GRCm39) missense probably benign 0.05
R2278:Bdp1 UTSW 13 100,197,847 (GRCm39) missense probably damaging 1.00
R2278:Bdp1 UTSW 13 100,197,838 (GRCm39) missense probably benign 0.05
R2336:Bdp1 UTSW 13 100,189,510 (GRCm39) missense probably damaging 0.99
R2380:Bdp1 UTSW 13 100,196,878 (GRCm39) missense probably benign 0.08
R3154:Bdp1 UTSW 13 100,186,322 (GRCm39) missense probably damaging 1.00
R4212:Bdp1 UTSW 13 100,196,093 (GRCm39) missense probably benign
R4322:Bdp1 UTSW 13 100,228,731 (GRCm39) missense probably damaging 0.97
R4414:Bdp1 UTSW 13 100,167,369 (GRCm39) missense probably damaging 0.99
R4415:Bdp1 UTSW 13 100,167,369 (GRCm39) missense probably damaging 0.99
R4764:Bdp1 UTSW 13 100,192,775 (GRCm39) missense probably damaging 0.99
R4766:Bdp1 UTSW 13 100,186,376 (GRCm39) missense probably damaging 0.96
R4888:Bdp1 UTSW 13 100,187,627 (GRCm39) missense probably benign 0.26
R4914:Bdp1 UTSW 13 100,192,844 (GRCm39) missense probably benign 0.28
R4917:Bdp1 UTSW 13 100,191,713 (GRCm39) missense probably damaging 0.99
R4918:Bdp1 UTSW 13 100,191,713 (GRCm39) missense probably damaging 0.99
R5170:Bdp1 UTSW 13 100,167,302 (GRCm39) nonsense probably null
R5266:Bdp1 UTSW 13 100,204,043 (GRCm39) missense probably benign 0.33
R5312:Bdp1 UTSW 13 100,234,109 (GRCm39) splice site probably null
R5420:Bdp1 UTSW 13 100,202,551 (GRCm39) missense possibly damaging 0.88
R5486:Bdp1 UTSW 13 100,235,018 (GRCm39) missense probably damaging 1.00
R5909:Bdp1 UTSW 13 100,228,794 (GRCm39) missense probably benign 0.08
R5913:Bdp1 UTSW 13 100,187,612 (GRCm39) missense probably benign 0.41
R6018:Bdp1 UTSW 13 100,174,732 (GRCm39) missense probably benign 0.00
R6037:Bdp1 UTSW 13 100,163,957 (GRCm39) missense possibly damaging 0.65
R6037:Bdp1 UTSW 13 100,163,957 (GRCm39) missense possibly damaging 0.65
R6700:Bdp1 UTSW 13 100,162,036 (GRCm39) missense probably benign 0.00
R6969:Bdp1 UTSW 13 100,211,039 (GRCm39) missense probably damaging 0.97
R6972:Bdp1 UTSW 13 100,174,269 (GRCm39) missense probably null 1.00
R6996:Bdp1 UTSW 13 100,180,321 (GRCm39) missense probably damaging 1.00
R7043:Bdp1 UTSW 13 100,215,215 (GRCm39) missense probably benign 0.03
R7060:Bdp1 UTSW 13 100,196,002 (GRCm39) missense probably damaging 1.00
R7105:Bdp1 UTSW 13 100,206,689 (GRCm39) missense probably damaging 1.00
R7155:Bdp1 UTSW 13 100,197,659 (GRCm39) missense possibly damaging 0.93
R7175:Bdp1 UTSW 13 100,186,478 (GRCm39) missense probably damaging 0.97
R7177:Bdp1 UTSW 13 100,186,478 (GRCm39) missense probably damaging 0.97
R7327:Bdp1 UTSW 13 100,178,040 (GRCm39) missense probably damaging 0.97
R7512:Bdp1 UTSW 13 100,187,457 (GRCm39) missense probably benign 0.03
R7562:Bdp1 UTSW 13 100,162,049 (GRCm39) missense probably benign 0.04
R7583:Bdp1 UTSW 13 100,186,320 (GRCm39) missense probably damaging 1.00
R7788:Bdp1 UTSW 13 100,191,759 (GRCm39) missense possibly damaging 0.64
R7842:Bdp1 UTSW 13 100,235,637 (GRCm39) missense probably damaging 1.00
R7850:Bdp1 UTSW 13 100,228,832 (GRCm39) missense probably damaging 1.00
R7904:Bdp1 UTSW 13 100,177,944 (GRCm39) missense probably benign 0.37
R7975:Bdp1 UTSW 13 100,156,884 (GRCm39) missense probably benign 0.01
R7999:Bdp1 UTSW 13 100,195,404 (GRCm39) missense possibly damaging 0.93
R8126:Bdp1 UTSW 13 100,192,790 (GRCm39) missense probably damaging 1.00
R8340:Bdp1 UTSW 13 100,202,476 (GRCm39) missense possibly damaging 0.61
R8414:Bdp1 UTSW 13 100,200,985 (GRCm39) missense probably benign 0.03
R8468:Bdp1 UTSW 13 100,197,076 (GRCm39) missense probably benign 0.04
R8688:Bdp1 UTSW 13 100,240,307 (GRCm39) missense probably damaging 1.00
R8871:Bdp1 UTSW 13 100,186,175 (GRCm39) missense probably damaging 1.00
R8976:Bdp1 UTSW 13 100,197,407 (GRCm39) nonsense probably null
R8987:Bdp1 UTSW 13 100,204,021 (GRCm39) missense probably benign 0.01
R9157:Bdp1 UTSW 13 100,186,436 (GRCm39) missense probably benign 0.40
R9437:Bdp1 UTSW 13 100,162,158 (GRCm39) missense probably benign 0.31
R9679:Bdp1 UTSW 13 100,180,285 (GRCm39) missense probably damaging 0.98
RF003:Bdp1 UTSW 13 100,196,958 (GRCm39) missense probably benign 0.31
RF003:Bdp1 UTSW 13 100,196,957 (GRCm39) missense probably benign 0.31
Z1177:Bdp1 UTSW 13 100,197,904 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- GGAAATGATGCATCTTAGGCAC -3'
(R):5'- CCAGAAAGATCTCAAAATGATGCTG -3'

Sequencing Primer
(F):5'- AGTAAATGGCAACTTGTAACATAGC -3'
(R):5'- CTCAAAATGATGCTGAGACAGTC -3'
Posted On 2022-09-12