Incidental Mutation 'R0115:Bdp1'
ID 20743
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 038401-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0115 (G1)
Quality Score 180
Status Validated (trace)
Chromosome 13
Chromosomal Location 100154502-100240578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 100177962 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 1969 (I1969T)
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: I1969T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: I1969T

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 noncoding transcript
Transcript: ENSMUST00000105697
Predicted Effect probably benign
Transcript: ENSMUST00000109379
AA Change: I1969T

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: I1969T

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: 98.8%
  • 3x: 97.7%
  • 10x: 94.2%
  • 20x: 86.0%
Validation Efficiency 98% (98/100)
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: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921528I07Rik A G 9: 114,108,452 (GRCm39) noncoding transcript Het
Alas1 A T 9: 106,115,451 (GRCm39) probably null Het
Arf5 A G 6: 28,426,075 (GRCm39) Y154C probably damaging Het
Arhgap20 T A 9: 51,750,272 (GRCm39) I344N probably damaging Het
Arhgap30 A C 1: 171,235,516 (GRCm39) E630A possibly damaging Het
B4galt5 A G 2: 167,151,154 (GRCm39) L118P probably damaging Het
Bysl C T 17: 47,921,867 (GRCm39) R77Q probably benign Het
Cap1 A T 4: 122,756,868 (GRCm39) H272Q possibly damaging Het
Ccdc146 T C 5: 21,527,754 (GRCm39) I187M possibly damaging Het
Ccdc192 G A 18: 57,727,214 (GRCm39) probably benign Het
Cdhr18 A G 14: 13,899,571 (GRCm38) V117A probably damaging Het
Cdk13 C A 13: 17,894,079 (GRCm39) A1123S probably damaging Het
Ces5a A T 8: 94,228,811 (GRCm39) M473K probably damaging Het
Chd8 A G 14: 52,474,663 (GRCm39) S123P probably benign Het
Cwc22 G A 2: 77,738,455 (GRCm39) A497V probably damaging Het
Cwh43 T C 5: 73,575,370 (GRCm39) S296P probably damaging Het
Cyp2c50 T A 19: 40,080,837 (GRCm39) probably benign Het
Dlg1 C A 16: 31,624,508 (GRCm39) Y399* probably null Het
Drosha A T 15: 12,846,216 (GRCm39) E92D probably benign Het
Fanca C T 8: 123,995,278 (GRCm39) G1408D probably benign Het
Frem1 T A 4: 82,854,406 (GRCm39) D1621V possibly damaging Het
Frem2 G A 3: 53,563,629 (GRCm39) R293C probably damaging Het
Fut8 T A 12: 77,495,334 (GRCm39) V308D probably damaging Het
Glipr1 A G 10: 111,829,446 (GRCm39) I105T probably benign Het
Glmn A T 5: 107,708,800 (GRCm39) S385T probably benign Het
Gon4l T A 3: 88,802,989 (GRCm39) V1200D probably damaging Het
Gpc1 G A 1: 92,785,221 (GRCm39) D387N probably damaging Het
Gsdmc A G 15: 63,675,486 (GRCm39) Y110H probably damaging Het
Gucy1b1 T A 3: 81,941,698 (GRCm39) H586L probably benign Het
Gucy2e A G 11: 69,127,458 (GRCm39) L5P unknown Het
Hectd4 A G 5: 121,433,569 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,684,398 (GRCm39) I391F possibly damaging Het
Hsf4 A T 8: 105,999,336 (GRCm39) probably null Het
I830077J02Rik G A 3: 105,833,886 (GRCm39) T90M probably damaging Het
Ino80 A T 2: 119,261,497 (GRCm39) H722Q probably damaging Het
Kcnma1 C A 14: 23,364,243 (GRCm39) R980L probably damaging Het
Kif1a A G 1: 92,974,500 (GRCm39) probably benign Het
Klhdc7b A G 15: 89,272,724 (GRCm39) H1202R probably benign Het
Lig3 A G 11: 82,684,761 (GRCm39) D559G probably damaging Het
Lyst T C 13: 13,852,537 (GRCm39) V2179A probably benign Het
Mab21l4 A T 1: 93,087,447 (GRCm39) S135R possibly damaging Het
Mansc4 A G 6: 146,976,725 (GRCm39) I297T possibly damaging Het
Marchf6 A T 15: 31,475,958 (GRCm39) F633I probably benign Het
Marf1 C T 16: 13,960,398 (GRCm39) A549T probably damaging Het
Megf10 G T 18: 57,392,874 (GRCm39) V424L possibly damaging Het
Mfsd13a C T 19: 46,354,943 (GRCm39) T40I probably benign Het
Mib2 A G 4: 155,740,519 (GRCm39) probably benign Het
Mmut C T 17: 41,267,118 (GRCm39) T564M probably damaging Het
Myh8 A G 11: 67,197,090 (GRCm39) probably benign Het
Mypn T C 10: 63,028,159 (GRCm39) probably benign Het
Nf1 G A 11: 79,359,702 (GRCm39) probably null Het
Notch3 T A 17: 32,352,436 (GRCm39) T1866S possibly damaging Het
Or1e30 A G 11: 73,678,141 (GRCm39) I126V possibly damaging Het
Or1o11 C T 17: 37,756,670 (GRCm39) A86V probably benign Het
Or4c102 A T 2: 88,422,999 (GRCm39) I284F probably damaging Het
Or4k51 T A 2: 111,584,930 (GRCm39) M112K probably damaging Het
Pkhd1 A T 1: 20,420,714 (GRCm39) I2464N probably damaging Het
Pkn1 A G 8: 84,397,658 (GRCm39) S817P probably damaging Het
Prkg2 A T 5: 99,142,514 (GRCm39) probably null Het
Prl8a6 T C 13: 27,617,084 (GRCm39) D201G probably benign Het
Psmd1 C T 1: 86,010,993 (GRCm39) T356I possibly damaging Het
Ptk6 G A 2: 180,844,320 (GRCm39) probably benign Het
Ptprn2 T C 12: 117,175,466 (GRCm39) probably benign Het
Rbm42 G A 7: 30,347,200 (GRCm39) T106I probably damaging Het
Rims4 A T 2: 163,706,040 (GRCm39) V198E probably damaging Het
Ripk1 T C 13: 34,193,733 (GRCm39) S32P probably damaging Het
Rorc T C 3: 94,284,916 (GRCm39) probably benign Het
Rpl22l1 T C 3: 28,860,685 (GRCm39) F15L probably damaging Het
Slc6a20a C A 9: 123,507,823 (GRCm39) A17S possibly damaging Het
Sorcs1 A G 19: 50,624,891 (GRCm39) probably benign Het
Sp100 A G 1: 85,577,852 (GRCm39) probably benign Het
Ssc5d G A 7: 4,930,880 (GRCm39) probably benign Het
Taf11 A G 17: 28,126,635 (GRCm39) L4P probably benign Het
Tm2d3 A G 7: 65,345,082 (GRCm39) probably benign Het
Tmub2 T C 11: 102,179,201 (GRCm39) probably null Het
Trim34a T A 7: 103,897,109 (GRCm39) C58S probably damaging Het
Trpc3 T C 3: 36,678,566 (GRCm39) I840V probably benign Het
Trpm6 T C 19: 18,807,316 (GRCm39) V1020A probably damaging Het
Vmn1r214 T A 13: 23,219,464 (GRCm39) Y319* probably null Het
Vmn1r59 T C 7: 5,457,115 (GRCm39) N215S probably benign Het
Vmn2r74 T C 7: 85,606,564 (GRCm39) M261V probably benign Het
Vmn2r89 T C 14: 51,693,577 (GRCm39) F309S probably damaging Het
Wdr95 A T 5: 149,487,855 (GRCm39) D163V probably damaging Het
Xirp2 T A 2: 67,340,253 (GRCm39) F831L possibly damaging Het
Ythdc2 C T 18: 44,974,490 (GRCm39) probably benign 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
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
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'- ACCTCCAGAGTGCTGTGAATCAGG -3'
(R):5'- AGACAGACACAGGGACTCTCATGAC -3'

Sequencing Primer
(F):5'- gcagtcagttctctcttctacc -3'
(R):5'- ACAGGGACTCTCATGACTTTAC -3'
Posted On 2013-04-11