Incidental Mutation 'R2069:Bdp1'
ID 226980
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 040074-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2069 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 100154502-100240578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 100187496 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 1624 (T1624A)
Ref Sequence ENSEMBL: ENSMUSP00000105005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379]
AlphaFold Q571C7
Predicted Effect probably benign
Transcript: ENSMUST00000038104
AA Change: T1624A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: T1624A

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 unknown
Transcript: ENSMUST00000099262
AA Change: T253A
Predicted Effect noncoding transcript
Transcript: ENSMUST00000105697
Predicted Effect probably benign
Transcript: ENSMUST00000109379
AA Change: T1624A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: T1624A

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 100% (104/104)
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: 104 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930519G04Rik T C 5: 115,012,341 (GRCm39) V86A probably benign Het
Abcc3 A T 11: 94,255,243 (GRCm39) I601N probably damaging Het
Abl2 T A 1: 156,448,397 (GRCm39) probably null Het
Adgrf4 C T 17: 42,977,789 (GRCm39) R518Q possibly damaging Het
Ahi1 C T 10: 20,835,895 (GRCm39) T76I probably damaging Het
Arhgap42 C T 9: 9,035,601 (GRCm39) G247D probably damaging Het
Arid2 C T 15: 96,260,471 (GRCm39) L407F probably damaging Het
Atp13a1 T C 8: 70,252,423 (GRCm39) F606L probably benign Het
Avl9 T A 6: 56,713,420 (GRCm39) probably benign Het
B3glct C T 5: 149,632,845 (GRCm39) A65V probably damaging Het
Bcorl1 T C X: 47,490,794 (GRCm39) probably benign Het
Bmp15 A G X: 6,228,075 (GRCm39) M263T probably benign Het
Brd8 T C 18: 34,747,532 (GRCm39) K110E probably damaging Het
Cachd1 A G 4: 100,848,041 (GRCm39) D1052G probably damaging Het
Capn9 G A 8: 125,332,450 (GRCm39) G430R possibly damaging Het
Ccdc113 G A 8: 96,283,924 (GRCm39) E333K probably benign Het
Ccnl2 A T 4: 155,896,938 (GRCm39) probably null Het
Ccr9 T C 9: 123,608,429 (GRCm39) F37S probably benign Het
Cdh20 A T 1: 110,065,889 (GRCm39) D721V probably damaging Het
Ceacam10 A T 7: 24,477,797 (GRCm39) N104I probably damaging Het
Cenpk T A 13: 104,372,684 (GRCm39) probably benign Het
Cfi A G 3: 129,652,453 (GRCm39) probably null Het
Chd1 T C 17: 15,962,556 (GRCm39) F771S probably damaging Het
Chil4 G A 3: 106,126,771 (GRCm39) L4F probably benign Het
Cilp G A 9: 65,185,372 (GRCm39) R489Q possibly damaging Het
Cntnap5b G A 1: 100,286,450 (GRCm39) G402R probably benign Het
Coq8b A G 7: 26,956,802 (GRCm39) E485G probably damaging Het
Cse1l A G 2: 166,783,412 (GRCm39) S733G probably benign Het
Dnah5 G A 15: 28,312,534 (GRCm39) probably null Het
Dnmt3l T C 10: 77,888,566 (GRCm39) V156A probably damaging Het
Duox1 A T 2: 122,163,543 (GRCm39) T792S probably benign Het
Duox2 T C 2: 122,117,589 (GRCm39) D915G probably benign Het
Efcab5 A T 11: 77,063,147 (GRCm39) M115K probably benign Het
Eif2s1 G A 12: 78,923,959 (GRCm39) D139N probably benign Het
Erg A G 16: 95,161,937 (GRCm39) F390L probably damaging Het
Fam193b A T 13: 55,690,811 (GRCm39) S650R probably damaging Het
Fbp2 T A 13: 63,001,875 (GRCm39) K113N possibly damaging Het
Fnbp4 T G 2: 90,588,716 (GRCm39) S496A probably damaging Het
Gab3 C A X: 74,043,701 (GRCm39) R475L probably damaging Het
Gsap T C 5: 21,431,837 (GRCm39) probably benign Het
Gucy1a2 C T 9: 3,582,697 (GRCm39) L160F probably damaging Het
Hivep1 C T 13: 42,337,262 (GRCm39) A2447V possibly damaging Het
Insc G T 7: 114,403,828 (GRCm39) probably null Het
Jph2 A G 2: 163,181,605 (GRCm39) S520P possibly damaging Het
Kidins220 T A 12: 25,037,005 (GRCm39) probably benign Het
Krtap29-1 A G 11: 99,869,438 (GRCm39) S148P probably damaging Het
Ltbp2 A C 12: 84,840,507 (GRCm39) C1000G probably damaging Het
Map2k3 T C 11: 60,840,853 (GRCm39) F294S probably damaging Het
Map4k2 C A 19: 6,392,768 (GRCm39) probably benign Het
Mboat2 T C 12: 25,001,442 (GRCm39) V281A probably benign Het
Mdga2 G A 12: 66,615,691 (GRCm39) R570* probably null Het
Mlxipl A G 5: 135,135,859 (GRCm39) D28G probably damaging Het
Morc2b T C 17: 33,355,734 (GRCm39) I679M probably benign Het
Myh4 T C 11: 67,137,192 (GRCm39) probably benign Het
Nfib A C 4: 82,416,852 (GRCm39) L61R probably damaging Het
Noc2l C A 4: 156,325,907 (GRCm39) Y227* probably null Het
Nrde2 A G 12: 100,108,491 (GRCm39) S367P probably damaging Het
Nup93 C A 8: 94,970,367 (GRCm39) P89T probably damaging Het
Obsl1 G A 1: 75,486,756 (GRCm38) T1764M probably benign Het
Or10a2 A T 7: 106,673,826 (GRCm39) K264* probably null Het
Or11h4 T A 14: 50,974,033 (GRCm39) E195D possibly damaging Het
Or4a68 C T 2: 89,269,927 (GRCm39) R232H probably benign Het
Or4k77 A G 2: 111,199,440 (GRCm39) I154M probably benign Het
Or6b9 A T 7: 106,555,494 (GRCm39) Y216* probably null Het
Or9r7 A G 10: 129,962,074 (GRCm39) I284T possibly damaging Het
Oxct1 G T 15: 4,122,007 (GRCm39) A319S probably null Het
P2ry10 A G X: 106,146,859 (GRCm39) S265G probably benign Het
Peak1 A T 9: 56,166,043 (GRCm39) N628K probably damaging Het
Pkdrej T A 15: 85,705,432 (GRCm39) Q168L probably benign Het
Plaat5 T C 19: 7,590,003 (GRCm39) S10P possibly damaging Het
Plec A G 15: 76,073,126 (GRCm39) M604T probably benign Het
Pmfbp1 A T 8: 110,258,735 (GRCm39) N680I possibly damaging Het
Pnma8b T C 7: 16,679,714 (GRCm39) W233R probably damaging Het
Pxn A G 5: 115,683,726 (GRCm39) N186S probably benign Het
Rsad1 A C 11: 94,439,951 (GRCm39) probably benign Het
Runx2 A G 17: 45,046,229 (GRCm39) I112T probably benign Het
S1pr2 A T 9: 20,878,790 (GRCm39) L346Q probably damaging Het
Skint6 A G 4: 113,095,329 (GRCm39) I110T probably damaging Het
Slc36a4 T A 9: 15,638,276 (GRCm39) F234Y probably damaging Het
Slitrk2 T A X: 65,698,235 (GRCm39) V242D probably damaging Het
Sp100 A G 1: 85,608,863 (GRCm39) probably null Het
Spryd3 A C 15: 102,026,616 (GRCm39) L352V probably benign Het
Ssc4d A C 5: 135,999,171 (GRCm39) W11G possibly damaging Het
Stx17 T A 4: 48,158,870 (GRCm39) D83E probably damaging Het
Tlk2 A T 11: 105,131,266 (GRCm39) Q204L probably benign Het
Tnfrsf21 A T 17: 43,348,829 (GRCm39) H147L possibly damaging Het
Tnrc18 A T 5: 142,751,842 (GRCm39) D1154E unknown Het
Trap1 A G 16: 3,886,200 (GRCm39) S86P probably benign Het
Trim32 T A 4: 65,533,013 (GRCm39) C523* probably null Het
Ttc38 G T 15: 85,722,989 (GRCm39) D146Y probably damaging Het
Ttc9 T A 12: 81,678,570 (GRCm39) L131Q probably damaging Het
Ttn T C 2: 76,557,192 (GRCm39) probably benign Het
Ttn C T 2: 76,643,683 (GRCm39) G11436R probably damaging Het
Ubash3b G A 9: 40,954,869 (GRCm39) P92S possibly damaging Het
Ube4a T C 9: 44,859,397 (GRCm39) N367S probably damaging Het
Ubr4 T A 4: 139,206,851 (GRCm39) H4899Q possibly damaging Het
Ufl1 C T 4: 25,269,036 (GRCm39) G265D possibly damaging Het
Vmn2r27 T A 6: 124,201,442 (GRCm39) I172F probably damaging Het
Vmn2r6 A T 3: 64,463,519 (GRCm39) H438Q possibly damaging Het
Vmn2r61 A G 7: 41,949,425 (GRCm39) D615G probably benign Het
Wdr24 T A 17: 26,045,256 (GRCm39) D330E probably damaging Het
Zbbx A T 3: 74,985,719 (GRCm39) N444K probably benign Het
Zc3h7b A T 15: 81,676,529 (GRCm39) Q757L probably damaging Het
Zpld2 T G 4: 133,929,252 (GRCm39) N351T possibly damaging 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
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
R9612:Bdp1 UTSW 13 100,214,370 (GRCm39) missense probably benign 0.18
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'- AAGGCACACTATCTTTTGGTCAG -3'
(R):5'- TCACGTTTTAGGAGACAGGC -3'

Sequencing Primer
(F):5'- GTGCTTATTCTGAGTCTCTAA -3'
(R):5'- GGCCAGACTGCTAAACCATATTG -3'
Posted On 2014-09-17