Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02008:Bdp1'

183244

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

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

Accession Numbers

Genbank: NM_001081061; MGI: 1347077

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02008

Quality Score

Status

Chromosome

Chromosomal Location

100017994-100104070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100023827 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 2349 (S2349P)

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: S2349P

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

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: S2349P

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

possibly damaging
Transcript: ENSMUST00000109379
AA Change: S2349P

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

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: S2349P

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	A	G	3: 122,176,101	T2252A	probably benign	Het
Abcc2	C	T	19: 43,821,750		probably benign	Het
Abcf1	T	C	17: 35,962,062	E231G	probably benign	Het
Astn2	T	C	4: 66,059,153	Y379C	probably damaging	Het
Atp8b1	G	T	18: 64,538,695		probably benign	Het
Atr	T	A	9: 95,881,420		probably benign	Het
Bmp2	T	C	2: 133,560,966	S146P	probably damaging	Het
Cacna1c	T	C	6: 118,715,924	S218G	probably null	Het
Cand2	T	C	6: 115,803,638	V1161A	probably damaging	Het
Clec16a	T	C	16: 10,580,960	V330A	probably damaging	Het
Cpsf1	A	T	15: 76,603,091	V161D	probably damaging	Het
Ctsh	A	G	9: 90,061,547	Y75C	probably damaging	Het
Cyp26c1	C	A	19: 37,688,923	L267M	probably damaging	Het
Cyp26c1	T	A	19: 37,688,924	L267Q	probably damaging	Het
Cyp2c50	G	A	19: 40,091,099	W212*	probably null	Het
Dnah5	T	A	15: 28,343,552	M2366K	probably damaging	Het
Ermp1	A	G	19: 29,612,920	M794T	probably damaging	Het
F11	G	T	8: 45,250,095	S186Y	probably damaging	Het
Fam184b	A	T	5: 45,532,823	F815I	possibly damaging	Het
Fezf2	T	C	14: 12,343,705	I347V	probably benign	Het
Fip1l1	C	T	5: 74,545,423	T114I	possibly damaging	Het
Gbp7	A	C	3: 142,546,450	D598A	probably benign	Het
Gm1110	T	A	9: 26,883,230	D500V	probably benign	Het
Gm1840	A	T	8: 5,639,896		noncoding transcript	Het
Gm3248	T	A	14: 5,943,928	M99L	probably benign	Het
Gm906	G	A	13: 50,246,685	P535L	probably benign	Het
Hspa9	G	A	18: 34,947,975	R218*	probably null	Het
Ikbip	G	A	10: 91,093,257		probably null	Het
Kcnb2	C	T	1: 15,710,809	T635M	probably benign	Het
Krtap29-1	T	A	11: 99,978,279	I259F	possibly damaging	Het
Lnpep	T	C	17: 17,570,957	T442A	probably benign	Het
Mgat1	T	A	11: 49,260,735	I15N	probably damaging	Het
Nlrp9c	A	T	7: 26,385,151	S334R	probably benign	Het
Notch2	A	T	3: 98,147,296	D2425V	probably damaging	Het
Ntn1	C	T	11: 68,213,263	V520M	probably damaging	Het
Olfr1089	A	C	2: 86,733,177	I145R	possibly damaging	Het
Olfr1167	A	T	2: 88,149,578	V147E	probably damaging	Het
Olfr1179	T	A	2: 88,402,077	T286S	possibly damaging	Het
Olfr149	A	G	9: 39,702,253	V172A	probably damaging	Het
Olfr803	T	A	10: 129,692,018	T8S	probably benign	Het
Olfr972	A	T	9: 39,873,485	D70V	probably damaging	Het
Osr2	A	G	15: 35,301,992	H246R	probably damaging	Het
Papolg	T	C	11: 23,879,898	R224G	probably damaging	Het
Pax6	T	A	2: 105,692,278		probably null	Het
Pcyox1	A	G	6: 86,392,268	V192A	probably benign	Het
Phf1	C	T	17: 26,935,286	A159V	possibly damaging	Het
Ppfia4	G	A	1: 134,332,391	R45W	probably damaging	Het
Psmb9	T	A	17: 34,183,679	K109M	probably damaging	Het
Ptprt	T	A	2: 161,927,673	Y424F	probably benign	Het
Ptrh2	A	G	11: 86,689,766	I70V	probably benign	Het
Rnf213	G	A	11: 119,418,309		probably benign	Het
Rom1	T	A	19: 8,928,004	I271F	probably benign	Het
Satb2	T	A	1: 56,796,793	D731V	possibly damaging	Het
Serpinb7	G	T	1: 107,448,129	G159V	possibly damaging	Het
Slit1	T	C	19: 41,646,140	I393V	probably damaging	Het
Spata20	T	A	11: 94,483,463	D327V	probably damaging	Het
Tbc1d32	G	T	10: 56,151,775	Q744K	possibly damaging	Het
Thegl	A	T	5: 77,060,758	I378L	probably benign	Het
Tmem108	G	T	9: 103,489,240	N517K	possibly damaging	Het
Trp63	T	A	16: 25,862,461	N160K	probably damaging	Het
Ttll5	T	C	12: 85,933,611	S119P	probably damaging	Het
Ubqln3	T	A	7: 104,142,316	Q189L	probably damaging	Het
Vwa5a	G	A	9: 38,737,776	R638H	probably benign	Het
Wdr3	A	G	3: 100,150,982	S436P	probably damaging	Het
Zfp975	A	T	7: 42,662,791	C133S	probably damaging	Het
Zfp976	A	T	7: 42,614,232		probably benign	Het
Zmiz1	A	G	14: 25,656,879	M860V	probably damaging	Het
Zscan4d	T	C	7: 11,162,369	E358G	probably benign	Het

Other mutations in Bdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00088:Bdp1	APN	13	100098510	missense	probably damaging	1.00
IGL00096:Bdp1	APN	13	100060865	missense	possibly damaging	0.61
IGL00160:Bdp1	APN	13	100061198	missense	probably benign	0.00
IGL00924:Bdp1	APN	13	100097579	missense	possibly damaging	0.89
IGL01337:Bdp1	APN	13	100056192	missense	probably benign	0.00
IGL01344:Bdp1	APN	13	100078080	missense	probably benign	0.06
IGL01347:Bdp1	APN	13	100070203	missense	possibly damaging	0.79
IGL01620:Bdp1	APN	13	100084205	splice site	probably benign
IGL01871:Bdp1	APN	13	100066053	missense	probably benign	0.01
IGL02112:Bdp1	APN	13	100037800	missense	probably benign	0.02
IGL02214:Bdp1	APN	13	100041535	missense	probably benign	0.00
IGL02236:Bdp1	APN	13	100060891	missense	probably benign
IGL02307:Bdp1	APN	13	100093438	missense	probably damaging	1.00
IGL02364:Bdp1	APN	13	100055308	splice site	probably benign
IGL02415:Bdp1	APN	13	100089408	missense	probably damaging	0.96
IGL02601:Bdp1	APN	13	100098514	missense	possibly damaging	0.72
IGL02605:Bdp1	APN	13	100078115	critical splice acceptor site	probably null
IGL02664:Bdp1	APN	13	100051539	missense	probably benign	0.29
IGL02738:Bdp1	APN	13	100051353	missense	probably benign	0.26
IGL02754:Bdp1	APN	13	100060973	missense	possibly damaging	0.94
IGL02967:Bdp1	APN	13	100042270	missense	possibly damaging	0.92
IGL02974:Bdp1	APN	13	100055292	missense	probably benign	0.00
IGL03156:Bdp1	APN	13	100061036	missense	probably benign	0.44
IGL03166:Bdp1	APN	13	100035800	missense	probably benign	0.28
IGL03232:Bdp1	APN	13	100051481	missense	probably damaging	1.00
D3080:Bdp1	UTSW	13	100023621	missense	probably benign	0.02
R0115:Bdp1	UTSW	13	100041454	missense	probably benign	0.28
R0481:Bdp1	UTSW	13	100041454	missense	probably benign	0.28
R0619:Bdp1	UTSW	13	100037858	missense	probably benign	0.00
R0730:Bdp1	UTSW	13	100058951	splice site	probably benign
R0744:Bdp1	UTSW	13	100035825	missense	probably benign	0.01
R0833:Bdp1	UTSW	13	100035825	missense	probably benign	0.01
R1307:Bdp1	UTSW	13	100049763	missense	possibly damaging	0.89
R1325:Bdp1	UTSW	13	100099008	missense	probably damaging	0.97
R1346:Bdp1	UTSW	13	100078755	nonsense	probably null
R1644:Bdp1	UTSW	13	100060940	missense	probably benign	0.03
R1670:Bdp1	UTSW	13	100027433	critical splice donor site	probably null
R1836:Bdp1	UTSW	13	100035145	missense	probably benign
R1869:Bdp1	UTSW	13	100042201	missense	probably damaging	0.99
R1920:Bdp1	UTSW	13	100098589	missense	probably benign	0.30
R1944:Bdp1	UTSW	13	100074381	splice site	probably null
R2030:Bdp1	UTSW	13	100061189	missense	probably benign	0.00
R2069:Bdp1	UTSW	13	100050988	missense	probably benign	0.00
R2180:Bdp1	UTSW	13	100061405	small insertion	probably benign
R2263:Bdp1	UTSW	13	100066037	missense	probably damaging	0.96
R2277:Bdp1	UTSW	13	100061330	missense	probably benign	0.05
R2277:Bdp1	UTSW	13	100061339	missense	probably damaging	1.00
R2278:Bdp1	UTSW	13	100061330	missense	probably benign	0.05
R2278:Bdp1	UTSW	13	100061339	missense	probably damaging	1.00
R2336:Bdp1	UTSW	13	100053002	missense	probably damaging	0.99
R2380:Bdp1	UTSW	13	100060370	missense	probably benign	0.08
R3154:Bdp1	UTSW	13	100049814	missense	probably damaging	1.00
R4212:Bdp1	UTSW	13	100059585	missense	probably benign
R4322:Bdp1	UTSW	13	100092223	missense	probably damaging	0.97
R4414:Bdp1	UTSW	13	100030861	missense	probably damaging	0.99
R4415:Bdp1	UTSW	13	100030861	missense	probably damaging	0.99
R4764:Bdp1	UTSW	13	100056267	missense	probably damaging	0.99
R4766:Bdp1	UTSW	13	100049868	missense	probably damaging	0.96
R4888:Bdp1	UTSW	13	100051119	missense	probably benign	0.26
R4914:Bdp1	UTSW	13	100056336	missense	probably benign	0.28
R4917:Bdp1	UTSW	13	100055205	missense	probably damaging	0.99
R4918:Bdp1	UTSW	13	100055205	missense	probably damaging	0.99
R5170:Bdp1	UTSW	13	100030794	nonsense	probably null
R5266:Bdp1	UTSW	13	100067535	missense	probably benign	0.33
R5312:Bdp1	UTSW	13	100097601	splice site	probably null
R5420:Bdp1	UTSW	13	100066043	missense	possibly damaging	0.88
R5486:Bdp1	UTSW	13	100098510	missense	probably damaging	1.00
R5909:Bdp1	UTSW	13	100092286	missense	probably benign	0.08
R5913:Bdp1	UTSW	13	100051104	missense	probably benign	0.41
R6018:Bdp1	UTSW	13	100038224	missense	probably benign	0.00
R6037:Bdp1	UTSW	13	100027449	missense	possibly damaging	0.65
R6037:Bdp1	UTSW	13	100027449	missense	possibly damaging	0.65
R6700:Bdp1	UTSW	13	100025528	missense	probably benign	0.00
R6969:Bdp1	UTSW	13	100074531	missense	probably damaging	0.97
R6972:Bdp1	UTSW	13	100037761	missense	probably null	1.00
R6996:Bdp1	UTSW	13	100043813	missense	probably damaging	1.00
R7043:Bdp1	UTSW	13	100078707	missense	probably benign	0.03
R7060:Bdp1	UTSW	13	100059494	missense	probably damaging	1.00
R7105:Bdp1	UTSW	13	100070181	missense	probably damaging	1.00
R7155:Bdp1	UTSW	13	100061151	missense	possibly damaging	0.93
R7175:Bdp1	UTSW	13	100049970	missense	probably damaging	0.97
R7177:Bdp1	UTSW	13	100049970	missense	probably damaging	0.97
R7327:Bdp1	UTSW	13	100041532	missense	probably damaging	0.97
R7512:Bdp1	UTSW	13	100050949	missense	probably benign	0.03
R7562:Bdp1	UTSW	13	100025541	missense	probably benign	0.04
R7583:Bdp1	UTSW	13	100049812	missense	probably damaging	1.00
R7788:Bdp1	UTSW	13	100055251	missense	possibly damaging	0.64
R7842:Bdp1	UTSW	13	100099129	missense	probably damaging	1.00
R7850:Bdp1	UTSW	13	100092324	missense	probably damaging	1.00
R7904:Bdp1	UTSW	13	100041436	missense	probably benign	0.37
R7975:Bdp1	UTSW	13	100020376	missense	probably benign	0.01
R7999:Bdp1	UTSW	13	100058896	missense	possibly damaging	0.93
R8126:Bdp1	UTSW	13	100056282	missense	probably damaging	1.00
R8340:Bdp1	UTSW	13	100065968	missense	possibly damaging	0.61
R8414:Bdp1	UTSW	13	100064477	missense	probably benign	0.03
R8468:Bdp1	UTSW	13	100060568	missense	probably benign	0.04
R8688:Bdp1	UTSW	13	100103799	missense	probably damaging	1.00
R8871:Bdp1	UTSW	13	100049667	missense	probably damaging	1.00
R8976:Bdp1	UTSW	13	100060899	nonsense	probably null
R8987:Bdp1	UTSW	13	100067513	missense	probably benign	0.01
R9157:Bdp1	UTSW	13	100049928	missense	probably benign	0.40
R9437:Bdp1	UTSW	13	100025650	missense	probably benign	0.31
R9612:Bdp1	UTSW	13	100077862	missense	probably benign	0.18
R9679:Bdp1	UTSW	13	100043777	missense	probably damaging	0.98
RF003:Bdp1	UTSW	13	100060449	missense	probably benign	0.31
RF003:Bdp1	UTSW	13	100060450	missense	probably benign	0.31
Z1177:Bdp1	UTSW	13	100061396	missense	probably damaging	1.00

Posted On

2014-05-07