Incidental Mutation 'R8871:Bdp1'
ID 676312
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 068685-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R8871 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 100154502-100240578 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 100186175 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glycine at position 1759 (V1759G)
Ref Sequence ENSEMBL: ENSMUSP00000105005 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379]
AlphaFold Q571C7
Predicted Effect probably damaging
Transcript: ENSMUST00000038104
AA Change: V1759G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: V1759G

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 damaging
Transcript: ENSMUST00000109379
AA Change: V1759G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: V1759G

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.3%
Validation Efficiency 99% (76/77)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T G 11: 9,248,071 (GRCm39) M2606R probably benign Het
Abcg5 C T 17: 84,990,295 (GRCm39) E3K probably benign Het
Adam20 A C 8: 41,248,601 (GRCm39) H237P probably damaging Het
Alg3 T C 16: 20,424,684 (GRCm39) Y361C probably damaging Het
Ano8 A T 8: 71,931,944 (GRCm39) Y752N probably benign Het
AW551984 A T 9: 39,500,998 (GRCm39) L759* probably null Het
Bicdl2 C A 17: 23,885,777 (GRCm39) Q273K probably damaging Het
Cc2d2a A T 5: 43,857,285 (GRCm39) T491S possibly damaging Het
Cdkl2 A G 5: 92,164,989 (GRCm39) S545P possibly damaging Het
Ceacam5 T A 7: 17,494,827 (GRCm39) I945K probably benign Het
Celf1 A G 2: 90,840,840 (GRCm39) Y369C probably damaging Het
Cmtm1 TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG TCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGGCTGGCTGGTGTCCCGGGTACTGAAGGTCCCTGG 8: 105,036,334 (GRCm39) probably null Het
Col14a1 T G 15: 55,245,958 (GRCm39) D487E unknown Het
Crybg3 T C 16: 59,378,519 (GRCm39) N912D probably benign Het
Cstl1 A G 2: 148,596,554 (GRCm39) T86A probably damaging Het
Dixdc1 C T 9: 50,595,096 (GRCm39) V482M possibly damaging Het
Dmbt1 T C 7: 130,718,597 (GRCm39) Y1773H unknown Het
Dock4 T C 12: 40,795,730 (GRCm39) I849T probably benign Het
Fbln2 A T 6: 91,233,215 (GRCm39) probably null Het
Fbxo16 A G 14: 65,531,348 (GRCm39) E84G probably damaging Het
Fras1 T A 5: 96,855,257 (GRCm39) V1922D probably benign Het
G6pc3 A G 11: 102,082,896 (GRCm39) H85R probably damaging Het
Galc A T 12: 98,212,543 (GRCm39) N197K probably damaging Het
Galnt12 T G 4: 47,108,582 (GRCm39) probably null Het
Gm10220 T A 5: 26,322,863 (GRCm39) Q183L probably benign Het
Gxylt2 A G 6: 100,760,109 (GRCm39) T215A probably damaging Het
Hnrnpf T G 6: 117,900,811 (GRCm39) S32A probably benign Het
Hspa1l T C 17: 35,197,799 (GRCm39) Y613H probably benign Het
Il1r2 T A 1: 40,144,424 (GRCm39) V37D probably benign Het
Itga11 C A 9: 62,668,823 (GRCm39) Y693* probably null Het
Itgax T A 7: 127,735,223 (GRCm39) F459L probably damaging Het
Jph1 A G 1: 17,067,719 (GRCm39) V656A possibly damaging Het
Kcnn4 A T 7: 24,083,500 (GRCm39) I394F possibly damaging Het
Kdelr3 T A 15: 79,410,044 (GRCm39) Y176* probably null Het
Kif13a T C 13: 46,984,279 (GRCm39) D162G probably damaging Het
Klhdc8b G A 9: 108,326,871 (GRCm39) P164S probably damaging Het
Lmbrd1 A T 1: 24,783,435 (GRCm39) Q357L probably damaging Het
Lrrc37a T C 11: 103,347,375 (GRCm39) M3107V unknown Het
Mllt3 ACTGCTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT ACTGCTGCTGCTGCTGCTGCTACTGCTGCTGCTGCTGCTGCT 4: 87,759,552 (GRCm39) probably benign Het
Muc16 C A 9: 18,567,344 (GRCm39) G1725V unknown Het
Myo5c T C 9: 75,185,585 (GRCm39) S983P probably benign Het
Naip1 G A 13: 100,580,146 (GRCm39) H217Y probably damaging Het
Nlrc3 T C 16: 3,781,968 (GRCm39) probably benign Het
Nrl A T 14: 55,758,184 (GRCm39) L181Q probably damaging Het
Olig1 T C 16: 91,067,545 (GRCm39) *261R probably null Het
Or12k5 T C 2: 36,895,060 (GRCm39) T189A probably benign Het
Or2l13b T C 16: 19,349,536 (GRCm39) I45V Het
Or8j3c T C 2: 86,253,697 (GRCm39) M108V probably benign Het
Oscp1 T A 4: 125,952,535 (GRCm39) L21Q probably damaging Het
Oxct1 G A 15: 4,064,763 (GRCm39) V34I probably benign Het
Pdzph1 A G 17: 59,195,033 (GRCm39) L1074P probably damaging Het
Pkd1l1 T A 11: 8,900,503 (GRCm39) S463C Het
Pnpla3 G A 15: 84,063,509 (GRCm39) E296K probably benign Het
Prss35 T G 9: 86,637,244 (GRCm39) L5V possibly damaging Het
Rbck1 T C 2: 152,164,096 (GRCm39) E336G possibly damaging Het
Rgl2 G A 17: 34,153,974 (GRCm39) R460Q probably damaging Het
Rmi1 T A 13: 58,557,156 (GRCm39) N468K probably benign Het
Rptor T A 11: 119,494,751 (GRCm39) I39N probably benign Het
S1pr1 A G 3: 115,505,628 (GRCm39) F322S probably damaging Het
Scgb1b10 T A 7: 31,800,544 (GRCm39) Y44* probably null Het
Setx A G 2: 29,038,114 (GRCm39) D1533G probably benign Het
Sf3b1 A G 1: 55,029,508 (GRCm39) Y1165H probably damaging Het
Sgcz A T 8: 38,420,103 (GRCm39) Y50N probably damaging Het
Sh3gl2 C A 4: 85,305,817 (GRCm39) P227Q Het
She T C 3: 89,759,795 (GRCm39) probably null Het
Slc9a4 T C 1: 40,642,015 (GRCm39) I328T probably damaging Het
Sort1 G A 3: 108,262,887 (GRCm39) probably null Het
Srebf1 A G 11: 60,091,595 (GRCm39) S977P probably benign Het
Srsf9 T C 5: 115,468,712 (GRCm39) V116A probably damaging Het
Tex15 G A 8: 34,066,992 (GRCm39) V2141I possibly damaging Het
Tmprss13 A T 9: 45,249,704 (GRCm39) H347L probably damaging Het
Trpv4 A G 5: 114,768,511 (GRCm39) F519S probably benign Het
Trrap A G 5: 144,758,649 (GRCm39) T2159A probably benign Het
Vmn1r36 A T 6: 66,693,442 (GRCm39) Y144* probably null Het
Vmn2r10 A G 5: 109,146,899 (GRCm39) I463T possibly damaging Het
Vps13a T A 19: 16,641,186 (GRCm39) N2312I probably damaging Het
Wdr81 A T 11: 75,343,919 (GRCm39) Y449* probably null Het
Zfhx3 A G 8: 109,676,867 (GRCm39) D2639G possibly damaging Het
Zfp120 A G 2: 149,959,995 (GRCm39) V131A probably benign Het
Zfp574 G T 7: 24,780,562 (GRCm39) C528F probably damaging Het
Zfp947 A T 17: 22,364,695 (GRCm39) N326K 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
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
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'- TTACGGTGTTCACTAAGTCCC -3'
(R):5'- GCGTGGATCAAAACGAATTCG -3'

Sequencing Primer
(F):5'- TTAAAGGGGTGAAAGTGCC -3'
(R):5'- CTGCTAAGAAGGAACCTAGAGCTTC -3'
Posted On 2021-07-15