Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00088:Bdp1'

996

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00088

Quality Score

Status

Chromosome

Chromosomal Location

100017994-100104070 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100098510 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 192 (Y192C)

Ref Sequence

ENSEMBL: ENSMUSP00000105005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038104] [ENSMUST00000109379] [ENSMUST00000163097]

Predicted Effect

probably damaging
Transcript: ENSMUST00000038104
AA Change: Y192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038321
Gene: ENSMUSG00000049658
AA Change: Y192C

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 damaging
Transcript: ENSMUST00000109379
AA Change: Y192C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105005
Gene: ENSMUSG00000049658
AA Change: Y192C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000163097

SMART Domains

Protein: ENSMUSP00000126435
Gene: ENSMUSG00000049658

Domain	Start	End	E-Value	Type
low complexity region	25	45	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167203

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930572O03Rik	C	A	5: 15,656,886		probably benign	Het
Ankhd1	A	G	18: 36,665,459		probably benign	Het
Anpep	A	G	7: 79,825,736	V879A	possibly damaging	Het
Asb13	T	G	13: 3,643,476	V78G	probably null	Het
Atad2b	A	G	12: 5,024,593	R1051G	probably damaging	Het
C1ql2	G	T	1: 120,341,670	G185C	probably damaging	Het
C87499	T	A	4: 88,629,070	K121N	probably benign	Het
Catsperg2	A	G	7: 29,705,404	S745P	possibly damaging	Het
Col19a1	A	T	1: 24,561,306	S52T	unknown	Het
Col4a2	G	T	8: 11,443,685	G1418V	probably damaging	Het
Crnkl1	C	T	2: 145,918,468	D677N	possibly damaging	Het
Cyp2j8	T	A	4: 96,503,842	N125I	probably benign	Het
Cyp2t4	A	T	7: 27,155,298	M68L	probably benign	Het
Dclk2	T	A	3: 86,799,090		probably null	Het
Dmxl2	T	C	9: 54,401,704	D1921G	probably benign	Het
Dnah10	G	A	5: 124,828,603	G4104S	probably damaging	Het
Echdc2	T	C	4: 108,178,911	I273T	probably damaging	Het
Extl1	T	C	4: 134,358,019	K596E	probably damaging	Het
Fads3	A	T	19: 10,052,299	D108V	probably null	Het
Fam135b	A	G	15: 71,450,494	L1274P	probably damaging	Het
Fat1	T	A	8: 45,024,602	H2228Q	possibly damaging	Het
Gcc2	C	T	10: 58,292,680	H1341Y	probably damaging	Het
Gls2	A	G	10: 128,200,971		probably null	Het
Gm13119	T	A	4: 144,362,530	H139Q	possibly damaging	Het
Gpr137	A	C	19: 6,939,704	V139G	probably damaging	Het
Ikbke	A	G	1: 131,270,012		probably null	Het
Irak2	A	T	6: 113,678,675	N285Y	probably benign	Het
Kcnu1	G	A	8: 25,897,856	C566Y	probably benign	Het
Klhl29	G	A	12: 5,140,705	P97S	probably benign	Het
Lama4	T	C	10: 39,065,595		probably benign	Het
Lhx6	G	A	2: 36,091,716		probably benign	Het
Mdn1	T	C	4: 32,723,651	L2529P	probably damaging	Het
Muc4	G	A	16: 32,754,086	G1321R	probably benign	Het
Naa15	T	A	3: 51,438,405	V19D	probably damaging	Het
Ncbp3	A	T	11: 73,073,529		probably benign	Het
Nckipsd	G	A	9: 108,814,969	V530I	probably benign	Het
Neb	A	G	2: 52,308,747	I394T	possibly damaging	Het
Nnmt	A	T	9: 48,591,924		probably benign	Het
Nupl1	T	A	14: 60,242,577	I207L	probably benign	Het
Olfr113	A	T	17: 37,574,917	C169S	probably damaging	Het
Olfr180	C	T	16: 58,915,850	E264K	probably benign	Het
Olfr290	T	A	7: 84,916,370	M197K	probably damaging	Het
Otud4	T	A	8: 79,672,881	N741K	probably damaging	Het
Pard6a	T	A	8: 105,703,201	C264S	probably benign	Het
Plch2	T	C	4: 155,006,642	N276S	probably damaging	Het
Racgap1	T	C	15: 99,636,122		probably benign	Het
Rad51d	T	C	11: 82,889,746	D70G	probably damaging	Het
Recql4	C	T	15: 76,707,336	A484T	possibly damaging	Het
Reg3g	A	T	6: 78,466,779	S149T	probably benign	Het
Rpl13a	C	A	7: 45,127,071		probably null	Het
Scn10a	T	C	9: 119,672,226	Y164C	probably damaging	Het
Scn2a	A	G	2: 65,764,440	I1878V	probably benign	Het
Sgcg	T	A	14: 61,240,347	R98*	probably null	Het
Tas2r137	A	T	6: 40,491,340	I35F	probably benign	Het
Tex19.2	A	G	11: 121,116,812	F270S	possibly damaging	Het
Traip	C	T	9: 107,970,550	R391W	probably benign	Het
Trim7	A	G	11: 48,845,571	N251D	probably damaging	Het
Trmt2a	T	A	16: 18,249,487	V8D	probably benign	Het
Ubr3	A	C	2: 69,988,810	I9L	probably benign	Het
Usp42	A	G	5: 143,717,142	S575P	probably benign	Het
Vmn2r52	G	T	7: 10,169,096	H468Q	probably benign	Het
Vmn2r59	T	A	7: 42,012,064	T776S	possibly damaging	Het
Zcchc6	T	C	13: 59,816,698	E221G	probably damaging	Het

Other mutations in Bdp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
IGL02008:Bdp1	APN	13	100023827	missense	possibly damaging	0.92
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

Posted On

2011-07-12