Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01904:Polr3c'

179630

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3c

Ensembl Gene

ENSMUSG00000028099

Gene Name

polymerase (RNA) III (DNA directed) polypeptide C

Synonyms

4933407E01Rik, RPC62, RPC3

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL01904

Quality Score

Status

Chromosome

Chromosomal Location

96711490-96727628 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to T at 96716665 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029741] [ENSMUST00000154679]

Predicted Effect

probably null
Transcript: ENSMUST00000029741

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	9.4e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128918

SMART Domains

Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpc82	20	180	5.9e-32	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137009

Predicted Effect

probably null
Transcript: ENSMUST00000154679

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	1.6e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402N22Rik	A	C	5: 11,921,456	N125T	probably benign	Het
Dnah5	T	C	15: 28,307,364	I1746T	probably benign	Het
Eml3	T	C	19: 8,936,766		probably benign	Het
Eml6	C	A	11: 29,838,613	E491*	probably null	Het
Gm10717	C	T	9: 3,025,616	S67L	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979	S144L	probably benign	Het
Hs3st2	C	T	7: 121,500,984	P351L	probably damaging	Het
Igf2r	A	T	17: 12,714,911	Y819N	probably damaging	Het
Kifc3	C	A	8: 95,137,957	A42S	possibly damaging	Het
Mrps17	A	G	5: 129,716,801	T20A	probably damaging	Het
Msh6	T	C	17: 87,984,732	V305A	probably benign	Het
Olfr449	T	C	6: 42,838,289	M136T	possibly damaging	Het
Olfr872	T	G	9: 20,260,290	M150R	probably damaging	Het
Pappa2	A	G	1: 158,783,941	L1484P	probably damaging	Het
Ros1	C	A	10: 52,077,911	E1877D	probably damaging	Het
Slc5a4b	T	C	10: 76,060,426	N565S	probably damaging	Het
Slf2	T	C	19: 44,949,141		probably null	Het
Suclg2	A	T	6: 95,588,934		probably benign	Het
Sult2a8	T	C	7: 14,425,457	E79G	probably damaging	Het
Triobp	A	G	15: 78,967,364	T573A	possibly damaging	Het
Vmn2r-ps159	C	T	4: 156,338,254		noncoding transcript	Het
Zfand5	C	T	19: 21,279,758		probably benign	Het
Zfhx4	C	A	3: 5,412,709	H3461Q	probably damaging	Het

Other mutations in Polr3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Polr3c	APN	3	96713520	missense	probably damaging	1.00
IGL01964:Polr3c	APN	3	96711975	unclassified	probably benign
IGL02640:Polr3c	APN	3	96716686	missense	probably damaging	0.98
IGL02955:Polr3c	APN	3	96714312	missense	probably damaging	1.00
IGL03129:Polr3c	APN	3	96719454	splice site	probably benign
IGL03263:Polr3c	APN	3	96714251	splice site	probably benign
R0503:Polr3c	UTSW	3	96713636	splice site	probably null
R0800:Polr3c	UTSW	3	96719311	missense	probably damaging	0.99
R0881:Polr3c	UTSW	3	96723847	missense	probably damaging	0.99
R1763:Polr3c	UTSW	3	96713595	missense	probably damaging	1.00
R1931:Polr3c	UTSW	3	96719298	missense	probably damaging	1.00
R1932:Polr3c	UTSW	3	96719298	missense	probably damaging	1.00
R1994:Polr3c	UTSW	3	96714373	splice site	probably null
R3771:Polr3c	UTSW	3	96725854	missense	probably damaging	1.00
R4116:Polr3c	UTSW	3	96715244	missense	probably damaging	1.00
R4614:Polr3c	UTSW	3	96716471	missense	probably benign	0.00
R4732:Polr3c	UTSW	3	96723661	missense	probably damaging	1.00
R4733:Polr3c	UTSW	3	96723661	missense	probably damaging	1.00
R5057:Polr3c	UTSW	3	96712057	missense	probably damaging	0.98
R5058:Polr3c	UTSW	3	96723517	missense	probably benign	0.01
R5756:Polr3c	UTSW	3	96714134	missense	probably damaging	1.00
R6005:Polr3c	UTSW	3	96719468	missense	possibly damaging	0.96
R6009:Polr3c	UTSW	3	96713614	missense	probably damaging	1.00
R6580:Polr3c	UTSW	3	96727343	splice site	probably null
R7003:Polr3c	UTSW	3	96723638	missense	possibly damaging	0.94
R7475:Polr3c	UTSW	3	96715185	missense	probably benign	0.11
R8065:Polr3c	UTSW	3	96715652	missense	probably null	0.80
R8067:Polr3c	UTSW	3	96715652	missense	probably null	0.80

Posted On

2014-05-07