Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02214:Bdp1'

284795

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

Tfnr, TFIIIB90, TFC5, B130055N23Rik, TAF3B1, TFIIIB150, G630013P12Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02214

Quality Score

Status

Chromosome

Chromosomal Location

100154502-100240578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100178043 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1942 (V1942A)

Ref Sequence

ENSEMBL: ENSMUSP00000105005 (fasta)

Gene Model

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

AlphaFold

Q571C7

Predicted Effect

probably benign
Transcript: ENSMUST00000038104
AA Change: V1942A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: V1942A

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

noncoding transcript
Transcript: ENSMUST00000105697

Predicted Effect

probably benign
Transcript: ENSMUST00000109379
AA Change: V1942A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: V1942A

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

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
9430097D07Rik	T	C	2: 32,464,736 (GRCm39)		probably benign	Het
A330008L17Rik	T	A	8: 100,148,390 (GRCm39)		noncoding transcript	Het
A930004D18Rik	A	G	2: 18,032,067 (GRCm39)	L17P	unknown	Het
Abca14	A	T	7: 119,893,398 (GRCm39)	M1283L	probably benign	Het
Adarb1	A	T	10: 77,158,135 (GRCm39)	V104E	probably damaging	Het
Ano1	T	A	7: 144,209,445 (GRCm39)	N252Y	possibly damaging	Het
Atp6v0a1	A	G	11: 100,930,666 (GRCm39)	S498G	probably benign	Het
Carf	T	A	1: 60,187,240 (GRCm39)	D579E	probably damaging	Het
Cltc	A	T	11: 86,623,412 (GRCm39)	S200R	probably benign	Het
Cpeb1	T	C	7: 81,021,805 (GRCm39)	S113G	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ehd3	T	A	17: 74,127,541 (GRCm39)	L158H	probably damaging	Het
Etfa	C	A	9: 55,372,095 (GRCm39)	G289W	probably damaging	Het
Fndc3c1	G	A	X: 105,469,435 (GRCm39)	T1029I	probably benign	Het
Gipr	C	A	7: 18,891,471 (GRCm39)	G402V	possibly damaging	Het
Hacd1	C	T	2: 14,031,758 (GRCm39)	V242M	probably damaging	Het
Hecw1	A	G	13: 14,474,978 (GRCm39)	L520P	probably damaging	Het
Ibtk	A	T	9: 85,596,232 (GRCm39)		probably benign	Het
Igkv16-104	A	C	6: 68,402,778 (GRCm39)	I24L	probably benign	Het
Kcnh8	A	T	17: 53,184,939 (GRCm39)	Y407F	possibly damaging	Het
Mansc1	C	T	6: 134,587,323 (GRCm39)	V285M	probably benign	Het
Mindy4	A	G	6: 55,193,636 (GRCm39)	R110G	possibly damaging	Het
Morn1	C	T	4: 155,176,776 (GRCm39)	H100Y	probably damaging	Het
Naip6	A	T	13: 100,452,567 (GRCm39)	S165T	probably damaging	Het
Or13a24	A	T	7: 140,154,470 (GRCm39)	R135*	probably null	Het
Or5aq1	T	G	2: 86,965,849 (GRCm39)	K272T	probably damaging	Het
Prx	G	T	7: 27,218,337 (GRCm39)	R946M	probably damaging	Het
Ptchd1	A	G	X: 154,356,706 (GRCm39)	V833A	possibly damaging	Het
Rgl2	A	G	17: 34,154,163 (GRCm39)	D481G	probably benign	Het
Serpinb3a	A	G	1: 106,976,218 (GRCm39)		probably null	Het
Shtn1	T	C	19: 58,988,318 (GRCm39)		probably benign	Het
Slco1a7	T	A	6: 141,668,911 (GRCm39)	D507V	possibly damaging	Het
Sult1b1	C	T	5: 87,682,949 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,923,106 (GRCm39)		probably benign	Het
Trappc9	C	T	15: 72,884,731 (GRCm39)	W416*	probably null	Het
Ubr4	T	C	4: 139,155,894 (GRCm39)	Y2240H	possibly damaging	Het
Ubr4	G	A	4: 139,189,138 (GRCm39)		probably null	Het
Vmn2r76	A	C	7: 85,879,138 (GRCm39)	F387L	probably benign	Het
Vps8	G	A	16: 21,336,035 (GRCm39)	C729Y	probably 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
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
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

Posted On

2015-04-16