Mutagenetix > Incidental Mutation

Incidental Mutation 'RF003:Bdp1'

602651

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

RF003 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100017994-100104070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100060449 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 1143 (V1143F)

Ref Sequence

ENSEMBL: ENSMUSP00000105005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379]

AlphaFold

Q571C7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000038104
AA Change: V1143F

PolyPhen 2 Score 0.630 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: V1143F

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 benign
Transcript: ENSMUST00000109379
AA Change: V1143F

PolyPhen 2 Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: V1143F

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: 99.8%
3x: 99.7%
10x: 99.2%
20x: 98.1%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055 (GRCm38)		probably benign	Het
A630073D07Rik	A	C	6: 132,627,443 (GRCm38)	L13R	unknown	Het
Alg9	GGC	GGCCGC	9: 50,775,427 (GRCm38)		probably benign	Het
Arc	G	C	15: 74,672,131 (GRCm38)	T81S	probably benign	Het
Atad5	A	T	11: 80,111,560 (GRCm38)	K1059N	probably damaging	Het
Ccdc33	T	C	9: 58,058,291 (GRCm38)	S583G	probably benign	Het
Cd109	TTAT	TTATTTATTTATATAT	9: 78,712,531 (GRCm38)		probably benign	Het
Cep192	A	T	18: 67,837,956 (GRCm38)	R1009S	probably benign	Het
Clvs2	T	A	10: 33,622,925 (GRCm38)	H3L	probably damaging	Het
Cnot6	T	C	11: 49,702,613 (GRCm38)	M14V	probably benign	Het
Colec10	A	G	15: 54,462,391 (GRCm38)	R206G	possibly damaging	Het
Dennd6a	T	C	14: 26,629,534 (GRCm38)	I598T	probably damaging	Het
Dmrt2	T	C	19: 25,678,134 (GRCm38)	S366P	probably damaging	Het
Dnmt1	AGTTCCTACCTCGTT	AGTTCCTACCTCGTTTTGGGGGCGGAGCACCGTTCCTACCTCGTT	9: 20,910,131 (GRCm38)		probably null	Het
Efhb	T	C	17: 53,400,891 (GRCm38)	D748G	probably damaging	Het
Etl4	C	T	2: 20,519,918 (GRCm38)	Q21*	probably null	Het
Fam172a	A	T	13: 77,834,675 (GRCm38)	I135L	possibly damaging	Het
Fam71e1	C	CGGAGGGAGGAAGGCTGGATCCTGGATACCTGGGTA	7: 44,500,527 (GRCm38)		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACACACTCCTGGTGT	17: 23,762,166 (GRCm38)		probably null	Het
Fmn1	ACCTCC	ACCTCCCCCTCC	2: 113,525,786 (GRCm38)		probably benign	Het
Fsip2	T	A	2: 82,991,521 (GRCm38)	M5866K	probably benign	Het
Gab3	CTT	CTTATT	X: 75,000,006 (GRCm38)		probably null	Het
Gnl2	T	A	4: 125,043,725 (GRCm38)		probably null	Het
Grip2	C	T	6: 91,783,593 (GRCm38)	R341Q	probably benign	Het
Hmcn1	T	A	1: 150,624,561 (GRCm38)	H3960L	probably damaging	Het
Igkv6-25	T	A	6: 70,215,778 (GRCm38)	Y56*	probably null	Het
Il12a	A	T	3: 68,695,229 (GRCm38)	T102S	probably benign	Het
Il1a	T	A	2: 129,302,932 (GRCm38)	I189F	possibly damaging	Het
Inpp4b	T	A	8: 81,969,521 (GRCm38)	Y361*	probably null	Het
Iqcf4	CTTTTCCTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCATTTTCCTTTTCCTTTT	9: 106,570,607 (GRCm38)		probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 95,940,816 (GRCm38)		probably benign	Het
Lrmp	AGCACATTG	AGCACATTGTGCACATTG	6: 145,173,783 (GRCm38)		probably benign	Het
Lrrc8d	T	C	5: 105,812,641 (GRCm38)	Y306H	probably damaging	Het
Mamld1	AGC	AGCCGC	X: 71,118,820 (GRCm38)		probably benign	Het
Map1a	CTCCAGCTCCAGCTCCAGCTCCA	CTCCAGCTCCAGCTCCAGCTCCAGCTCCAGATCCAGCTCCAGCTCCAGCTCCA	2: 121,306,296 (GRCm38)		probably benign	Het
Map1b	G	T	13: 99,430,750 (GRCm38)	A1821E	unknown	Het
Maz	A	G	7: 127,025,497 (GRCm38)	C284R	probably damaging	Het
Med23	A	G	10: 24,903,785 (GRCm38)	H920R	probably damaging	Het
Megf10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	18: 57,294,027 (GRCm38)		probably benign	Het
Mmp14	C	T	14: 54,439,014 (GRCm38)	R339*	probably null	Het
Mroh9	T	G	1: 163,058,061 (GRCm38)	K334T	probably damaging	Het
Nab1	A	T	1: 52,479,282 (GRCm38)	C320S	probably damaging	Het
Noto	T	C	6: 85,424,210 (GRCm38)	S74P	probably benign	Het
Nudt4	T	C	10: 95,549,374 (GRCm38)	N152D	possibly damaging	Het
Nup155	T	TTTTG	15: 8,119,176 (GRCm38)		probably benign	Het
Nusap1	AGCTGAGA	AGCTGAGATACACGTTAGCAGTGAGGAGCAGGCTGAGA	2: 119,627,603 (GRCm38)		probably benign	Het
Olfr118	A	C	17: 37,672,858 (GRCm38)	K278N	probably damaging	Het
Olfr330	CA	C	11: 58,529,157 (GRCm38)		probably null	Het
Olfr461	T	C	6: 40,544,362 (GRCm38)	I206V	probably benign	Het
Olfr585	GTTAT	GTTATTAT	7: 103,098,305 (GRCm38)			Het
Olfr585	TTA	TTAGTA	7: 103,098,306 (GRCm38)		probably null	Het
Olfr710	T	A	7: 106,944,648 (GRCm38)	M118L	probably damaging	Het
Olfr828	T	C	9: 18,815,482 (GRCm38)	T271A	probably benign	Het
Plxnc1	T	C	10: 94,794,444 (GRCm38)	Y1531C	probably damaging	Het
Pnmal2	TGA	TGAAGA	7: 16,946,016 (GRCm38)		probably benign	Het
Rp1	A	G	1: 4,344,694 (GRCm38)	V2065A	probably damaging	Het
Sbp	AAGATGCTGACAACA	AAGATGCTGACAACAGAGATGCTGACAACA	17: 23,945,369 (GRCm38)		probably benign	Het
Sepsecs	G	A	5: 52,647,191 (GRCm38)	T379M	probably benign	Het
Sfswap	GGCC	GGCCCACTCTGCC	5: 129,569,764 (GRCm38)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,370 (GRCm38)		probably benign	Het
Tfeb	C	T	17: 47,788,078 (GRCm38)	T259I	possibly damaging	Het
Tgoln1	A	AAACTCAG	6: 72,616,352 (GRCm38)		probably null	Het
Tmem94	G	A	11: 115,796,132 (GRCm38)	V1108M	probably damaging	Het
Usp35	T	C	7: 97,322,096 (GRCm38)	K297E	possibly damaging	Het
Vcpkmt	T	A	12: 69,582,824 (GRCm38)	T55S	possibly damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471 (GRCm38)		probably benign	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,036,483 (GRCm38)		probably benign	Het
Zfp384	GGCCC	GGCCCTGGCCCAAGCCC	6: 125,036,476 (GRCm38)		probably benign	Het
Zfp407	A	T	18: 84,209,563 (GRCm38)	S1974T	probably benign	Het
Zfp677	T	C	17: 21,397,442 (GRCm38)	S254P	probably 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
R5170:Bdp1	UTSW	13	100,030,794 (GRCm38)	nonsense	probably null
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
Z1177:Bdp1	UTSW	13	100,061,396 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGACTGGAAAGGACCTTAGATTC -3'
(R):5'- ACTTCCCAGAGAGGAAAGGC -3'

Sequencing Primer
(F):5'- ATTACATCTGCCTCAGGC -3'
(R):5'- AGTGGAGTCGAGCACTGC -3'

Posted On

2019-12-04