Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02738:Bdp1'

305765

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 #

IGL02738

Quality Score

Status

Chromosome

Chromosomal Location

100154502-100240578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 100187861 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 1575 (A1575S)

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: A1575S

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: A1575S

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

unknown
Transcript: ENSMUST00000099262
AA Change: A204S

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000105697

Predicted Effect

probably benign
Transcript: ENSMUST00000109379
AA Change: A1575S

PolyPhen 2 Score 0.258 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: A1575S

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acss1	A	T	2: 150,466,792 (GRCm39)		probably benign	Het
Akr1c21	A	T	13: 4,630,300 (GRCm39)	N198Y	probably damaging	Het
Anapc11	A	T	11: 120,490,102 (GRCm39)	K6I	probably benign	Het
Angel1	G	A	12: 86,752,060 (GRCm39)	L554F	probably benign	Het
Arhgap11a	A	T	2: 113,663,320 (GRCm39)	*988K	probably null	Het
Arnt	T	A	3: 95,402,631 (GRCm39)		probably null	Het
Atp1a3	T	A	7: 24,689,901 (GRCm39)	D519V	possibly damaging	Het
Bglap	G	A	3: 88,291,715 (GRCm39)	T3I	unknown	Het
Brca2	C	T	5: 150,490,500 (GRCm39)	P3054L	probably damaging	Het
Btn2a2	C	A	13: 23,662,976 (GRCm39)	E316*	probably null	Het
C1qtnf9	C	T	14: 61,017,388 (GRCm39)	T306I	probably benign	Het
Caprin2	T	C	6: 148,744,360 (GRCm39)	T1022A	probably damaging	Het
Cd109	T	C	9: 78,598,581 (GRCm39)	Y940H	probably damaging	Het
Cd300ld	A	G	11: 114,875,076 (GRCm39)	L186S	probably benign	Het
Cdc45	C	T	16: 18,617,479 (GRCm39)	M200I	probably benign	Het
Chd6	A	T	2: 160,807,618 (GRCm39)	S1865R	probably benign	Het
Chrna2	T	C	14: 66,386,889 (GRCm39)	V345A	probably benign	Het
Dnah1	T	G	14: 31,014,597 (GRCm39)	E1756A	probably benign	Het
Dnah3	C	T	7: 119,564,720 (GRCm39)	A2637T	probably benign	Het
Ern2	A	G	7: 121,782,122 (GRCm39)	F80S	probably damaging	Het
Ero1b	A	G	13: 12,619,322 (GRCm39)	I439V	possibly damaging	Het
Eva1a	T	G	6: 82,048,211 (GRCm39)	S30A	probably benign	Het
Fer1l4	A	G	2: 155,887,648 (GRCm39)	L516P	probably benign	Het
Garin2	T	A	12: 78,780,989 (GRCm39)		probably benign	Het
Hexim2	T	C	11: 103,029,103 (GRCm39)	S52P	probably damaging	Het
Hoxb9	A	T	11: 96,165,554 (GRCm39)	M208L	possibly damaging	Het
Lbr	A	G	1: 181,659,778 (GRCm39)	V139A	probably benign	Het
Lcn10	G	A	2: 25,574,032 (GRCm39)		probably benign	Het
Letm2	A	G	8: 26,076,789 (GRCm39)	I271T	probably damaging	Het
Lrrc34	T	C	3: 30,685,441 (GRCm39)	S303G	possibly damaging	Het
Matn2	C	A	15: 34,388,885 (GRCm39)	A325D	probably benign	Het
Mboat4	T	C	8: 34,582,258 (GRCm39)	L4P	probably damaging	Het
Mmp1a	T	A	9: 7,464,301 (GRCm39)		probably benign	Het
Naip2	T	A	13: 100,325,685 (GRCm39)	R74S	probably benign	Het
Neb	G	T	2: 52,133,862 (GRCm39)	Q3374K	probably damaging	Het
Nup210l	A	G	3: 90,044,157 (GRCm39)	E486G	possibly damaging	Het
Or4b13	A	G	2: 90,082,699 (GRCm39)	I211T	possibly damaging	Het
Or4k51	A	C	2: 111,584,699 (GRCm39)	Y35S	probably damaging	Het
Or5m12	A	G	2: 85,735,293 (GRCm39)	V35A	probably benign	Het
Or6c69	A	T	10: 129,747,200 (GRCm39)		probably benign	Het
Pde8a	A	C	7: 80,976,090 (GRCm39)	N677H	probably damaging	Het
Plag1	G	A	4: 3,903,812 (GRCm39)	Q460*	probably null	Het
Podnl1	A	G	8: 84,858,824 (GRCm39)	T550A	probably benign	Het
Ptpn22	A	G	3: 103,781,382 (GRCm39)		probably benign	Het
Pycr3	A	T	15: 75,790,565 (GRCm39)	I98N	probably damaging	Het
Rtn4r	A	G	16: 17,969,052 (GRCm39)	Y160C	probably damaging	Het
Slc27a4	A	G	2: 29,701,238 (GRCm39)	N343S	probably benign	Het
Slc2a4	A	G	11: 69,836,940 (GRCm39)	Y43H	probably damaging	Het
Sorbs1	A	T	19: 40,365,348 (GRCm39)	L145Q	probably damaging	Het
Speer2	A	T	16: 69,658,600 (GRCm39)	S22T	probably benign	Het
Sugp2	G	T	8: 70,696,449 (GRCm39)	G474V	probably damaging	Het
Syt3	C	T	7: 44,035,447 (GRCm39)	S18L	possibly damaging	Het
Tacc1	T	C	8: 25,691,159 (GRCm39)	E48G	probably damaging	Het
Tdrd6	A	G	17: 43,931,337 (GRCm39)	V2083A	probably benign	Het
Thra	A	T	11: 98,655,185 (GRCm39)	H355L	probably benign	Het
Tmem35b	C	T	4: 127,019,981 (GRCm39)	Q34*	probably null	Het
Unk	G	T	11: 115,947,017 (GRCm39)	G537V	probably damaging	Het
Usp32	T	A	11: 84,974,632 (GRCm39)	D92V	probably damaging	Het
Vmn1r209	G	T	13: 22,990,290 (GRCm39)	Y133*	probably null	Het
Vmn1r42	A	G	6: 89,821,630 (GRCm39)	V313A	possibly damaging	Het
Vnn1	A	G	10: 23,780,520 (GRCm39)	I503V	probably benign	Het
Vwa2	G	A	19: 56,886,361 (GRCm39)	G143R	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
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