Mutagenetix > Incidental Mutation

Incidental Mutation 'R9679:Bdp1'

728430

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100154502-100240578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100180285 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 1845 (I1845F)

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: I1845F

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: I1845F

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 damaging
Transcript: ENSMUST00000109379
AA Change: I1845F

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: I1845F

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,509,542 (GRCm39)	N638K	probably benign	Het
Arid5a	A	G	1: 36,357,648 (GRCm39)	K188E	possibly damaging	Het
Atp11a	T	C	8: 12,909,388 (GRCm39)	I1082T	possibly damaging	Het
Ccdc87	A	C	19: 4,891,299 (GRCm39)	E597A	probably benign	Het
Cfap53	A	T	18: 74,492,656 (GRCm39)	Q460L	possibly damaging	Het
Clcn1	G	A	6: 42,263,753 (GRCm39)	S18N	probably damaging	Het
Cntnap3	C	A	13: 64,899,562 (GRCm39)	C977F	probably damaging	Het
Colec11	C	A	12: 28,644,829 (GRCm39)	V222L	probably benign	Het
Dchs2	G	T	3: 83,261,697 (GRCm39)	S2655I	probably damaging	Het
Dnah8	A	G	17: 31,037,115 (GRCm39)	T4227A	probably benign	Het
Dock5	G	A	14: 68,018,450 (GRCm39)	R1242W	probably damaging	Het
Ebf3	T	A	7: 136,832,964 (GRCm39)	N237I	possibly damaging	Het
F2rl3	T	A	8: 73,489,661 (GRCm39)	L296Q	probably damaging	Het
Fbn2	A	G	18: 58,201,433 (GRCm39)	I1328T	probably damaging	Het
Fes	T	C	7: 80,033,050 (GRCm39)	E258G	probably benign	Het
Gins4	G	A	8: 23,717,132 (GRCm39)	A212V	probably damaging	Het
Il15	T	C	8: 83,071,094 (GRCm39)	Y7C	probably benign	Het
Il9r	T	G	11: 32,140,853 (GRCm39)	H395P	probably benign	Het
Jade1	T	C	3: 41,567,569 (GRCm39)	S546P	probably damaging	Het
Krt72	C	T	15: 101,685,152 (GRCm39)	G469D	probably damaging	Het
Limd1	T	A	9: 123,308,457 (GRCm39)	M52K	probably damaging	Het
Mamdc2	T	C	19: 23,351,380 (GRCm39)	N182S	probably benign	Het
Mrpl14	A	G	17: 46,009,240 (GRCm39)	N113S	probably damaging	Het
Ms4a14	A	G	19: 11,280,048 (GRCm39)	S837P	possibly damaging	Het
Mtrex	A	G	13: 113,032,055 (GRCm39)	S586P	probably damaging	Het
Muc21	A	G	17: 35,930,491 (GRCm39)	S1232P	unknown	Het
Myh11	A	T	16: 14,095,436 (GRCm39)	Y109N		Het
Nfrkb	C	T	9: 31,321,385 (GRCm39)	T694M	probably benign	Het
Nlrp4b	T	G	7: 10,449,184 (GRCm39)	S462R	probably benign	Het
Or4k37	A	G	2: 111,159,345 (GRCm39)	T194A	probably benign	Het
Or52e2	T	C	7: 102,804,652 (GRCm39)	I101V	probably benign	Het
Or5g9	T	A	2: 85,552,482 (GRCm39)	H244Q	probably damaging	Het
Or5h19	A	G	16: 58,856,521 (GRCm39)	L193P	possibly damaging	Het
Or6c76	A	G	10: 129,611,882 (GRCm39)	Y33C	probably damaging	Het
Rasip1	T	C	7: 45,277,327 (GRCm39)	V45A	possibly damaging	Het
Rgs22	A	G	15: 36,087,587 (GRCm39)	S568P	probably benign	Het
Sephs1	T	A	2: 4,898,105 (GRCm39)	L172Q	probably damaging	Het
Slc16a3	T	C	11: 120,847,223 (GRCm39)	L137P	probably damaging	Het
Slc22a4	T	C	11: 53,881,599 (GRCm39)	Y373C	probably damaging	Het
Snx1	T	C	9: 65,998,002 (GRCm39)	D410G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stam2	G	T	2: 52,606,582 (GRCm39)	A101D	probably damaging	Het
Surf4	A	G	2: 26,814,364 (GRCm39)	F179S	probably benign	Het
Taf8	C	T	17: 47,801,101 (GRCm39)	R294Q	unknown	Het
Tnr	A	G	1: 159,719,608 (GRCm39)	T962A	probably benign	Het
Tpx2	T	A	2: 152,711,618 (GRCm39)	I51K	possibly damaging	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,394,369 (GRCm39)	Y2305N		Het
Vil1	C	A	1: 74,469,833 (GRCm39)	Q740K	probably benign	Het
Vmn1r236	T	C	17: 21,507,286 (GRCm39)	F135L	possibly damaging	Het
Vmn1r57	A	C	7: 5,224,230 (GRCm39)	I252L	probably benign	Het
Vmn2r77	T	C	7: 86,460,741 (GRCm39)	L689P	probably benign	Het
Wdr1	A	G	5: 38,685,216 (GRCm39)	L585P	probably damaging	Het
Wdr6	T	C	9: 108,450,358 (GRCm39)	I1057V	probably benign	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	100,197,847 (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
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
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

Posted On

2022-10-06