Mutagenetix > Incidental Mutation

Incidental Mutation 'R5170:Bdp1'

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

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*

Domain	Start	End	E-Value	Type
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*

Domain	Start	End	E-Value	Type
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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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