Incidental Mutation 'R5170:Bdp1'
ID 397521
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 TAF3B1, TFC5, Tfnr, B130055N23Rik, TFIIIB90, TFIIIB150, G630013P12Rik
MMRRC Submission 042750-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5170 (G1)
Quality Score 225
Status Not validated
Chromosome 13
Chromosomal Location 100017994-100104070 bp(-) (GRCm38)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 100030794 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 2237 (C2237*)
Ref Sequence ENSEMBL: ENSMUSP00000105005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379]
AlphaFold Q571C7
Predicted Effect probably null
Transcript: ENSMUST00000038104
AA Change: C2237*
SMART Domains Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: C2237*

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: ENSMUST00000099262
Predicted Effect probably null
Transcript: ENSMUST00000109379
AA Change: C2237*
SMART Domains Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: C2237*

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: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
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: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acox3 A G 5: 35,588,625 (GRCm38) I51V probably benign Het
Agbl2 A G 2: 90,803,197 (GRCm38) K559R probably benign Het
Arhgap30 A G 1: 171,408,050 (GRCm38) D664G probably benign Het
BC034090 A G 1: 155,213,650 (GRCm38) V798A probably damaging Het
C3 C T 17: 57,223,938 (GRCm38) V388M probably damaging Het
Ccdc170 G A 10: 4,514,200 (GRCm38) E60K probably damaging Het
Cdh8 G A 8: 99,279,550 (GRCm38) T135M probably damaging Het
Cep131 G T 11: 120,070,609 (GRCm38) A572E probably damaging Het
Clec16a A G 16: 10,741,791 (GRCm38) Y976C probably benign Het
Dmpk C G 7: 19,088,019 (GRCm38) L301V probably benign Het
Eno3 A G 11: 70,662,214 (GRCm38) I393V probably benign Het
Fbxo47 A G 11: 97,857,694 (GRCm38) V305A probably benign Het
Fry G A 5: 150,429,854 (GRCm38) V1779M probably benign Het
Gm15293 A T 8: 21,201,680 (GRCm38) D26V probably damaging Het
Gtse1 T C 15: 85,864,264 (GRCm38) probably null Het
Gucy2e A T 11: 69,235,570 (GRCm38) L328Q probably damaging Het
Ifi207 T C 1: 173,730,498 (GRCm38) T225A unknown Het
Igkv4-80 A C 6: 69,016,665 (GRCm38) S81A probably benign Het
Lamc3 A T 2: 31,887,344 (GRCm38) M1L probably benign Het
Lman1l G A 9: 57,615,619 (GRCm38) R153* probably null Het
Myo16 A G 8: 10,569,745 (GRCm38) D1432G probably benign Het
Nwd2 A T 5: 63,806,037 (GRCm38) N988I probably damaging Het
Otx1 C A 11: 21,997,037 (GRCm38) A91S probably damaging Het
Parp14 T C 16: 35,857,279 (GRCm38) E773G probably benign Het
Psen1 T A 12: 83,714,862 (GRCm38) M146K probably damaging Het
Ptx4 G A 17: 25,123,178 (GRCm38) R209Q probably benign Het
Slc13a2 T C 11: 78,400,808 (GRCm38) T340A probably damaging Het
St8sia1 T C 6: 142,963,708 (GRCm38) K21E probably damaging Het
Stxbp1 T C 2: 32,794,674 (GRCm38) D581G probably benign Het
Sumo2 G A 11: 115,534,660 (GRCm38) probably benign Het
Supt5 G A 7: 28,316,083 (GRCm38) P910S probably benign Het
Tbc1d30 T C 10: 121,306,838 (GRCm38) Q158R possibly damaging Het
Tenm2 T A 11: 36,024,806 (GRCm38) H1968L probably damaging Het
Trmt1 T C 8: 84,695,232 (GRCm38) Y220H probably damaging Het
Trp73 C T 4: 154,104,838 (GRCm38) E60K possibly damaging Het
Ttn A G 2: 76,787,069 (GRCm38) Y8026H probably damaging Het
Zar1l A G 5: 150,517,585 (GRCm38) probably null Het
Zfp740 T C 15: 102,209,205 (GRCm38) Y117H probably damaging Het
Zfp941 G A 7: 140,812,957 (GRCm38) probably benign Het
Zp1 C A 19: 10,920,554 (GRCm38) V8F possibly damaging Het
Other mutations in Bdp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00088:Bdp1 APN 13 100,098,510 (GRCm38) missense probably damaging 1.00
IGL00096:Bdp1 APN 13 100,060,865 (GRCm38) missense possibly damaging 0.61
IGL00160:Bdp1 APN 13 100,061,198 (GRCm38) missense probably benign 0.00
IGL00924:Bdp1 APN 13 100,097,579 (GRCm38) missense possibly damaging 0.89
IGL01337:Bdp1 APN 13 100,056,192 (GRCm38) missense probably benign 0.00
IGL01344:Bdp1 APN 13 100,078,080 (GRCm38) missense probably benign 0.06
IGL01347:Bdp1 APN 13 100,070,203 (GRCm38) missense possibly damaging 0.79
IGL01620:Bdp1 APN 13 100,084,205 (GRCm38) splice site probably benign
IGL01871:Bdp1 APN 13 100,066,053 (GRCm38) missense probably benign 0.01
IGL02008:Bdp1 APN 13 100,023,827 (GRCm38) missense possibly damaging 0.92
IGL02112:Bdp1 APN 13 100,037,800 (GRCm38) missense probably benign 0.02
IGL02214:Bdp1 APN 13 100,041,535 (GRCm38) missense probably benign 0.00
IGL02236:Bdp1 APN 13 100,060,891 (GRCm38) missense probably benign
IGL02307:Bdp1 APN 13 100,093,438 (GRCm38) missense probably damaging 1.00
IGL02364:Bdp1 APN 13 100,055,308 (GRCm38) splice site probably benign
IGL02415:Bdp1 APN 13 100,089,408 (GRCm38) missense probably damaging 0.96
IGL02601:Bdp1 APN 13 100,098,514 (GRCm38) missense possibly damaging 0.72
IGL02605:Bdp1 APN 13 100,078,115 (GRCm38) critical splice acceptor site probably null
IGL02664:Bdp1 APN 13 100,051,539 (GRCm38) missense probably benign 0.29
IGL02738:Bdp1 APN 13 100,051,353 (GRCm38) missense probably benign 0.26
IGL02754:Bdp1 APN 13 100,060,973 (GRCm38) missense possibly damaging 0.94
IGL02967:Bdp1 APN 13 100,042,270 (GRCm38) missense possibly damaging 0.92
IGL02974:Bdp1 APN 13 100,055,292 (GRCm38) missense probably benign 0.00
IGL03156:Bdp1 APN 13 100,061,036 (GRCm38) missense probably benign 0.44
IGL03166:Bdp1 APN 13 100,035,800 (GRCm38) missense probably benign 0.28
IGL03232:Bdp1 APN 13 100,051,481 (GRCm38) missense probably damaging 1.00
D3080:Bdp1 UTSW 13 100,023,621 (GRCm38) missense probably benign 0.02
R0115:Bdp1 UTSW 13 100,041,454 (GRCm38) missense probably benign 0.28
R0481:Bdp1 UTSW 13 100,041,454 (GRCm38) missense probably benign 0.28
R0619:Bdp1 UTSW 13 100,037,858 (GRCm38) missense probably benign 0.00
R0730:Bdp1 UTSW 13 100,058,951 (GRCm38) splice site probably benign
R0744:Bdp1 UTSW 13 100,035,825 (GRCm38) missense probably benign 0.01
R0833:Bdp1 UTSW 13 100,035,825 (GRCm38) missense probably benign 0.01
R1307:Bdp1 UTSW 13 100,049,763 (GRCm38) missense possibly damaging 0.89
R1325:Bdp1 UTSW 13 100,099,008 (GRCm38) missense probably damaging 0.97
R1346:Bdp1 UTSW 13 100,078,755 (GRCm38) nonsense probably null
R1644:Bdp1 UTSW 13 100,060,940 (GRCm38) missense probably benign 0.03
R1670:Bdp1 UTSW 13 100,027,433 (GRCm38) critical splice donor site probably null
R1836:Bdp1 UTSW 13 100,035,145 (GRCm38) missense probably benign
R1869:Bdp1 UTSW 13 100,042,201 (GRCm38) missense probably damaging 0.99
R1920:Bdp1 UTSW 13 100,098,589 (GRCm38) missense probably benign 0.30
R1944:Bdp1 UTSW 13 100,074,381 (GRCm38) splice site probably null
R2030:Bdp1 UTSW 13 100,061,189 (GRCm38) missense probably benign 0.00
R2069:Bdp1 UTSW 13 100,050,988 (GRCm38) missense probably benign 0.00
R2180:Bdp1 UTSW 13 100,061,405 (GRCm38) small insertion probably benign
R2263:Bdp1 UTSW 13 100,066,037 (GRCm38) missense probably damaging 0.96
R2277:Bdp1 UTSW 13 100,061,339 (GRCm38) missense probably damaging 1.00
R2277:Bdp1 UTSW 13 100,061,330 (GRCm38) missense probably benign 0.05
R2278:Bdp1 UTSW 13 100,061,339 (GRCm38) missense probably damaging 1.00
R2278:Bdp1 UTSW 13 100,061,330 (GRCm38) missense probably benign 0.05
R2336:Bdp1 UTSW 13 100,053,002 (GRCm38) missense probably damaging 0.99
R2380:Bdp1 UTSW 13 100,060,370 (GRCm38) missense probably benign 0.08
R3154:Bdp1 UTSW 13 100,049,814 (GRCm38) missense probably damaging 1.00
R4212:Bdp1 UTSW 13 100,059,585 (GRCm38) missense probably benign
R4322:Bdp1 UTSW 13 100,092,223 (GRCm38) missense probably damaging 0.97
R4414:Bdp1 UTSW 13 100,030,861 (GRCm38) missense probably damaging 0.99
R4415:Bdp1 UTSW 13 100,030,861 (GRCm38) missense probably damaging 0.99
R4764:Bdp1 UTSW 13 100,056,267 (GRCm38) missense probably damaging 0.99
R4766:Bdp1 UTSW 13 100,049,868 (GRCm38) missense probably damaging 0.96
R4888:Bdp1 UTSW 13 100,051,119 (GRCm38) missense probably benign 0.26
R4914:Bdp1 UTSW 13 100,056,336 (GRCm38) missense probably benign 0.28
R4917:Bdp1 UTSW 13 100,055,205 (GRCm38) missense probably damaging 0.99
R4918:Bdp1 UTSW 13 100,055,205 (GRCm38) missense probably damaging 0.99
R5266:Bdp1 UTSW 13 100,067,535 (GRCm38) missense probably benign 0.33
R5312:Bdp1 UTSW 13 100,097,601 (GRCm38) splice site probably null
R5420:Bdp1 UTSW 13 100,066,043 (GRCm38) missense possibly damaging 0.88
R5486:Bdp1 UTSW 13 100,098,510 (GRCm38) missense probably damaging 1.00
R5909:Bdp1 UTSW 13 100,092,286 (GRCm38) missense probably benign 0.08
R5913:Bdp1 UTSW 13 100,051,104 (GRCm38) missense probably benign 0.41
R6018:Bdp1 UTSW 13 100,038,224 (GRCm38) missense probably benign 0.00
R6037:Bdp1 UTSW 13 100,027,449 (GRCm38) missense possibly damaging 0.65
R6037:Bdp1 UTSW 13 100,027,449 (GRCm38) missense possibly damaging 0.65
R6700:Bdp1 UTSW 13 100,025,528 (GRCm38) missense probably benign 0.00
R6969:Bdp1 UTSW 13 100,074,531 (GRCm38) missense probably damaging 0.97
R6972:Bdp1 UTSW 13 100,037,761 (GRCm38) missense probably null 1.00
R6996:Bdp1 UTSW 13 100,043,813 (GRCm38) missense probably damaging 1.00
R7043:Bdp1 UTSW 13 100,078,707 (GRCm38) missense probably benign 0.03
R7060:Bdp1 UTSW 13 100,059,494 (GRCm38) missense probably damaging 1.00
R7105:Bdp1 UTSW 13 100,070,181 (GRCm38) missense probably damaging 1.00
R7155:Bdp1 UTSW 13 100,061,151 (GRCm38) missense possibly damaging 0.93
R7175:Bdp1 UTSW 13 100,049,970 (GRCm38) missense probably damaging 0.97
R7177:Bdp1 UTSW 13 100,049,970 (GRCm38) missense probably damaging 0.97
R7327:Bdp1 UTSW 13 100,041,532 (GRCm38) missense probably damaging 0.97
R7512:Bdp1 UTSW 13 100,050,949 (GRCm38) missense probably benign 0.03
R7562:Bdp1 UTSW 13 100,025,541 (GRCm38) missense probably benign 0.04
R7583:Bdp1 UTSW 13 100,049,812 (GRCm38) missense probably damaging 1.00
R7788:Bdp1 UTSW 13 100,055,251 (GRCm38) missense possibly damaging 0.64
R7842:Bdp1 UTSW 13 100,099,129 (GRCm38) missense probably damaging 1.00
R7850:Bdp1 UTSW 13 100,092,324 (GRCm38) missense probably damaging 1.00
R7904:Bdp1 UTSW 13 100,041,436 (GRCm38) missense probably benign 0.37
R7975:Bdp1 UTSW 13 100,020,376 (GRCm38) missense probably benign 0.01
R7999:Bdp1 UTSW 13 100,058,896 (GRCm38) missense possibly damaging 0.93
R8126:Bdp1 UTSW 13 100,056,282 (GRCm38) missense probably damaging 1.00
R8340:Bdp1 UTSW 13 100,065,968 (GRCm38) missense possibly damaging 0.61
R8414:Bdp1 UTSW 13 100,064,477 (GRCm38) missense probably benign 0.03
R8468:Bdp1 UTSW 13 100,060,568 (GRCm38) missense probably benign 0.04
R8688:Bdp1 UTSW 13 100,103,799 (GRCm38) missense probably damaging 1.00
R8871:Bdp1 UTSW 13 100,049,667 (GRCm38) missense probably damaging 1.00
R8976:Bdp1 UTSW 13 100,060,899 (GRCm38) nonsense probably null
R8987:Bdp1 UTSW 13 100,067,513 (GRCm38) missense probably benign 0.01
R9157:Bdp1 UTSW 13 100,049,928 (GRCm38) missense probably benign 0.40
R9437:Bdp1 UTSW 13 100,025,650 (GRCm38) missense probably benign 0.31
R9612:Bdp1 UTSW 13 100,077,862 (GRCm38) missense probably benign 0.18
R9679:Bdp1 UTSW 13 100,043,777 (GRCm38) missense probably damaging 0.98
RF003:Bdp1 UTSW 13 100,060,450 (GRCm38) missense probably benign 0.31
RF003:Bdp1 UTSW 13 100,060,449 (GRCm38) missense probably benign 0.31
Z1177:Bdp1 UTSW 13 100,061,396 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGCCACTGTAGGTTTCCTG -3'
(R):5'- TTGGTTGTTCAAGATGCTCCATC -3'

Sequencing Primer
(F):5'- AGCCACTGTAGGTTTCCTGATTAATG -3'
(R):5'- CCTTATCTCCTTCTAGAAGTGGCAG -3'
Posted On 2016-07-06