Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02967:Bdp1'

365665

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 #

IGL02967

Quality Score

Status

Chromosome

Chromosomal Location

100154502-100240578 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100178778 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1856 (F1856S)

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: F1856S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: F1856S

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

possibly damaging
Transcript: ENSMUST00000109379
AA Change: F1856S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: F1856S

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,328,291 (GRCm39)	T3455A	probably damaging	Het
Abca8a	G	A	11: 109,941,762 (GRCm39)	P1169L	probably damaging	Het
Ablim3	T	A	18: 61,959,574 (GRCm39)	K272*	probably null	Het
Abtb3	A	G	10: 85,469,646 (GRCm39)	T856A	probably benign	Het
Acin1	A	G	14: 54,880,210 (GRCm39)	V574A	possibly damaging	Het
Acot4	A	T	12: 84,090,235 (GRCm39)	I311L	probably benign	Het
Akap9	C	T	5: 4,026,164 (GRCm39)	A1273V	probably benign	Het
Ap1g2	T	A	14: 55,342,479 (GRCm39)		probably benign	Het
Apob	A	T	12: 8,065,366 (GRCm39)	K4112*	probably null	Het
Aspdh	A	G	7: 44,114,963 (GRCm39)		probably null	Het
Atf7ip	T	C	6: 136,583,725 (GRCm39)	I1252T	probably damaging	Het
Avpr1a	A	G	10: 122,285,367 (GRCm39)	T220A	possibly damaging	Het
Cit	A	T	5: 116,083,896 (GRCm39)	N743I	probably benign	Het
Clvs2	T	C	10: 33,471,784 (GRCm39)	K174E	probably damaging	Het
Cyp4f40	A	T	17: 32,893,222 (GRCm39)	Q351L	probably damaging	Het
Dmbt1	G	T	7: 130,672,919 (GRCm39)	V550L	possibly damaging	Het
Edem1	T	G	6: 108,813,738 (GRCm39)	S178A	probably damaging	Het
Fam222b	C	T	11: 78,044,934 (GRCm39)	A165V	probably benign	Het
Fer	T	C	17: 64,203,262 (GRCm39)	V64A	possibly damaging	Het
Fggy	T	G	4: 95,814,986 (GRCm39)	F535C	possibly damaging	Het
Fkbp15	A	T	4: 62,222,627 (GRCm39)	S1091T	probably damaging	Het
Fstl5	G	A	3: 76,229,498 (GRCm39)	V100M	probably damaging	Het
Fut7	G	T	2: 25,315,155 (GRCm39)	V91L	probably damaging	Het
Gemin4	A	T	11: 76,103,067 (GRCm39)	C565S	probably damaging	Het
Gzmm	C	T	10: 79,530,897 (GRCm39)	T233I	possibly damaging	Het
Hps5	A	T	7: 46,418,804 (GRCm39)	L789Q	possibly damaging	Het
Krt32	G	A	11: 99,974,876 (GRCm39)	S357F	possibly damaging	Het
Lrig2	C	T	3: 104,401,512 (GRCm39)		probably benign	Het
Lrp8	C	A	4: 107,718,431 (GRCm39)	Q678K	probably benign	Het
Mmp27	C	A	9: 7,571,591 (GRCm39)	Q45K	probably benign	Het
Myh1	A	G	11: 67,099,896 (GRCm39)	D602G	possibly damaging	Het
Ncoa1	G	T	12: 4,345,294 (GRCm39)	H684Q	probably damaging	Het
Nol9	T	C	4: 152,125,559 (GRCm39)	V170A	possibly damaging	Het
Notch2	A	G	3: 98,053,460 (GRCm39)	D2041G	probably damaging	Het
Nrg3	G	T	14: 38,390,256 (GRCm39)		probably benign	Het
Nuak1	T	A	10: 84,276,085 (GRCm39)	H46L	probably damaging	Het
Pdzd2	G	T	15: 12,374,427 (GRCm39)	Q1903K	probably benign	Het
Pik3c2g	T	C	6: 139,913,554 (GRCm39)	V616A	probably damaging	Het
Ppp6c	A	G	2: 39,116,229 (GRCm39)	Y9H	probably damaging	Het
Prdm11	A	T	2: 92,843,234 (GRCm39)	F75Y	probably damaging	Het
Prelid1	G	A	13: 55,472,219 (GRCm39)	V132I	probably benign	Het
Prom1	A	G	5: 44,201,740 (GRCm39)	S227P	probably damaging	Het
Psmb5	G	A	14: 54,854,083 (GRCm39)	R132C	probably benign	Het
Pus10	A	G	11: 23,668,602 (GRCm39)	N360D	probably damaging	Het
Pygm	G	A	19: 6,443,868 (GRCm39)	V610M	probably damaging	Het
Setd1a	A	G	7: 127,384,349 (GRCm39)		probably benign	Het
Sfmbt1	T	A	14: 30,538,759 (GRCm39)	W793R	probably damaging	Het
Slc25a4	A	G	8: 46,662,187 (GRCm39)	L157P	probably damaging	Het
Sost	T	G	11: 101,855,084 (GRCm39)	E75A	possibly damaging	Het
Tdrd9	A	G	12: 111,958,922 (GRCm39)	S119G	possibly damaging	Het
Tepsin	A	G	11: 119,984,954 (GRCm39)	I238T	probably benign	Het
Tfr2	T	A	5: 137,581,081 (GRCm39)	L507*	probably null	Het
Tmem106a	T	C	11: 101,477,121 (GRCm39)	I110T	possibly damaging	Het
Tmem38a	A	T	8: 73,339,926 (GRCm39)	D298V	possibly damaging	Het
Tmprss12	A	T	15: 100,183,262 (GRCm39)	R201S	probably benign	Het
Ugt2b36	T	C	5: 87,238,759 (GRCm39)	T271A	possibly damaging	Het
Virma	T	G	4: 11,514,096 (GRCm39)	V650G	probably benign	Het
Vmn1r220	A	T	13: 23,368,162 (GRCm39)	I178N	probably damaging	Het
Zfp609	A	G	9: 65,604,901 (GRCm39)	S1276P	possibly damaging	Het
Zfp809	A	G	9: 22,146,398 (GRCm39)	Y29C	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
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
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

2015-12-18