Mutagenetix > Incidental Mutation

Incidental Mutation 'R2277:Bdp1'

242869

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

040276-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100154502-100240578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100197847 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 846 (E846V)

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: E846V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: E846V

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 damaging
Transcript: ENSMUST00000109379
AA Change: E846V

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: E846V

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

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.5%

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd13d	T	C	19: 4,331,012 (GRCm39)	H165R	probably benign	Het
Arhgap21	T	C	2: 20,868,037 (GRCm39)	I829V	possibly damaging	Het
Atxn1	T	C	13: 45,710,544 (GRCm39)	N796S	probably damaging	Het
Cdh4	C	A	2: 179,439,317 (GRCm39)	H155N	possibly damaging	Het
Cela3a	T	C	4: 137,133,187 (GRCm39)	I62V	possibly damaging	Het
Cr2	T	C	1: 194,839,676 (GRCm39)	R960G	possibly damaging	Het
Ddx42	T	A	11: 106,133,765 (GRCm39)	D580E	probably damaging	Het
Dnah17	T	C	11: 117,987,387 (GRCm39)	K1308E	possibly damaging	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Gh	T	C	11: 106,191,613 (GRCm39)	E143G	probably damaging	Het
Hcn3	C	A	3: 89,055,168 (GRCm39)	R693L	probably benign	Het
Hdlbp	G	A	1: 93,335,900 (GRCm39)	R1199*	probably null	Het
Hook2	C	T	8: 85,729,560 (GRCm39)	Q667*	probably null	Het
Ibtk	T	C	9: 85,585,204 (GRCm39)	I1147V	probably benign	Het
Itpk1	T	C	12: 102,536,519 (GRCm39)	T376A	probably benign	Het
Lars1	C	T	18: 42,368,567 (GRCm39)	V425I	probably benign	Het
Lgi4	T	G	7: 30,760,037 (GRCm39)	L78V	probably damaging	Het
Madd	A	T	2: 90,974,028 (GRCm39)	C1419S	possibly damaging	Het
Mamld1	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	ACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCAGCAGCA	X: 70,162,421 (GRCm39)		probably benign	Het
Mpp2	T	C	11: 101,955,127 (GRCm39)	E166G	probably damaging	Het
Mrgprb5	A	G	7: 47,818,579 (GRCm39)	L52P	probably damaging	Het
Nlrp2	T	C	7: 5,331,128 (GRCm39)	T423A	probably benign	Het
Nphs1	T	A	7: 30,166,989 (GRCm39)	L732*	probably null	Het
Pcdhb10	T	C	18: 37,545,677 (GRCm39)	I251T	possibly damaging	Het
Plcg1	T	A	2: 160,597,725 (GRCm39)	M789K	possibly damaging	Het
Pom121l2	T	C	13: 22,168,417 (GRCm39)	I896T	probably benign	Het
Ptpn4	T	C	1: 119,612,321 (GRCm39)	D24G	probably damaging	Het
Rbm28	T	C	6: 29,135,513 (GRCm39)		probably null	Het
Rbp3	C	T	14: 33,677,975 (GRCm39)	T641M	probably damaging	Het
Rhebl1	A	T	15: 98,776,167 (GRCm39)	D162E	probably benign	Het
Runx1t1	T	C	4: 13,771,501 (GRCm39)	V15A	probably benign	Het
Serpina10	T	A	12: 103,593,002 (GRCm39)	I291F	probably benign	Het
Slc23a2	A	G	2: 131,933,179 (GRCm39)	I93T	possibly damaging	Het
Slc25a29	T	C	12: 108,792,852 (GRCm39)	E242G	probably benign	Het
Sulf1	A	C	1: 12,867,018 (GRCm39)	R67S	probably benign	Het
Syne2	A	G	12: 75,974,240 (GRCm39)	E1146G	possibly damaging	Het
Tmem45a	A	T	16: 56,643,882 (GRCm39)	L89Q	probably damaging	Het
Top3a	A	C	11: 60,636,700 (GRCm39)	V655G	possibly damaging	Het
Ttc23l	A	G	15: 10,523,678 (GRCm39)	I347T	possibly damaging	Het

Other mutations in Bdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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	100,197,838 (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'- GTCTCCATTTCCATAGTGACATCTG -3'
(R):5'- CCTGTCATCTGTTCAGCTGG -3'

Sequencing Primer
(F):5'- TCTGACTCTGAGTCCTTG -3'
(R):5'- CATCTGTTCAGCTGGTAATCTGG -3'

Posted On

2014-10-16