Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00096:Bdp1'

306539

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL00096

Quality Score

Status

Chromosome

Chromosomal Location

100017994-100104070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100060865 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1004 (D1004G)

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: D1004G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: D1004G

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

possibly damaging
Transcript: ENSMUST00000109379
AA Change: D1004G

PolyPhen 2 Score 0.613 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: D1004G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167815

Coding Region Coverage

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: 16 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acrbp	T	C	6: 125,050,514 (GRCm38)	Y42H	probably damaging	Het
Alpk1	A	T	3: 127,681,043 (GRCm38)	F437Y	probably damaging	Het
C9	A	C	15: 6,486,656 (GRCm38)	Q313H	probably benign	Het
Carmil1	T	A	13: 24,111,838 (GRCm38)	N398Y	possibly damaging	Het
Cyp2s1	A	G	7: 25,809,258 (GRCm38)	V253A	probably damaging	Het
Inpp5k	T	A	11: 75,646,820 (GRCm38)	M352K	possibly damaging	Het
Lef1	C	T	3: 131,113,850 (GRCm38)		probably benign	Het
Naip5	C	A	13: 100,246,175 (GRCm38)	E9*	probably null	Het
Olfr220	A	T	1: 174,448,667 (GRCm38)	T15S	probably benign	Het
Peli1	G	A	11: 21,142,619 (GRCm38)	V89I	probably damaging	Het
Plb1	A	G	5: 32,345,736 (GRCm38)	Q1180R	probably benign	Het
Skiv2l	T	A	17: 34,839,548 (GRCm38)	I1198F	probably damaging	Het
Sorcs3	T	A	19: 48,683,658 (GRCm38)		probably null	Het
Spin2f	T	A	X: 31,254,768 (GRCm38)	I51N	probably damaging	Het
Sptbn4	T	C	7: 27,369,434 (GRCm38)	K1800E	probably damaging	Het
Vmn2r67	A	T	7: 85,151,930 (GRCm38)	V266E	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
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
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

Posted On

2015-04-16