Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03263:Polr3c'

414984

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

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL03263

Quality Score

Status

Chromosome

Chromosomal Location

96618836-96634803 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 96621567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122435 (fasta)

Gene Model

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

AlphaFold

Q9D483

Predicted Effect

probably benign
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 benign
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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123K08Rik	T	A	5: 138,562,499 (GRCm39)	I81F	probably damaging	Het
Acacb	C	T	5: 114,351,754 (GRCm39)	H1164Y	probably damaging	Het
Adamts5	A	T	16: 85,666,830 (GRCm39)	V554E	probably damaging	Het
Asns	G	A	6: 7,689,404 (GRCm39)	R33C	probably benign	Het
BC051076	T	G	5: 88,111,977 (GRCm39)		noncoding transcript	Het
Bcas3	C	T	11: 85,712,948 (GRCm39)		probably benign	Het
Bpifb1	A	G	2: 154,057,226 (GRCm39)	M395V	probably benign	Het
Cdcp1	C	A	9: 123,009,152 (GRCm39)	V509L	probably benign	Het
Cdhr2	A	G	13: 54,865,926 (GRCm39)	T277A	possibly damaging	Het
Ces1d	C	A	8: 93,896,346 (GRCm39)		probably null	Het
Clca4a	T	A	3: 144,672,192 (GRCm39)	E250V	probably damaging	Het
Cplx4	T	C	18: 66,100,559 (GRCm39)	D79G	probably benign	Het
Dcaf11	A	G	14: 55,802,949 (GRCm39)	D246G	probably damaging	Het
Dnah2	A	T	11: 69,420,207 (GRCm39)		probably null	Het
Dock3	A	T	9: 106,807,330 (GRCm39)		probably benign	Het
Fam170a	T	C	18: 50,413,588 (GRCm39)		probably benign	Het
Fgfr2	T	A	7: 129,782,149 (GRCm39)	M423L	probably benign	Het
Gabra2	A	G	5: 71,130,836 (GRCm39)	F331L	probably damaging	Het
Galnt18	C	T	7: 111,119,321 (GRCm39)	R400Q	probably damaging	Het
H2-M11	A	T	17: 36,859,805 (GRCm39)	Q266L	probably damaging	Het
Igf2bp1	A	T	11: 95,857,499 (GRCm39)	V502D	probably damaging	Het
Ik	A	G	18: 36,881,699 (GRCm39)	N111S	probably damaging	Het
Intu	T	A	3: 40,627,027 (GRCm39)	Y269*	probably null	Het
Krt82	T	C	15: 101,450,307 (GRCm39)	Y463C	probably benign	Het
Lrig1	A	G	6: 94,588,628 (GRCm39)	M507T	probably benign	Het
Lrrc37	A	G	11: 103,504,525 (GRCm39)	V2481A	possibly damaging	Het
Mag	T	G	7: 30,598,953 (GRCm39)		probably null	Het
Map7	T	A	10: 20,121,068 (GRCm39)	Y121*	probably null	Het
Marchf6	A	G	15: 31,486,508 (GRCm39)	I349T	probably benign	Het
Mas1	A	G	17: 13,060,451 (GRCm39)	V324A	possibly damaging	Het
Nckap1l	T	C	15: 103,372,832 (GRCm39)	W259R	probably damaging	Het
Nhsl1	T	A	10: 18,373,827 (GRCm39)	Y164*	probably null	Het
Or52e5	T	A	7: 104,719,209 (GRCm39)	H178Q	probably damaging	Het
Or8b38	A	T	9: 37,973,009 (GRCm39)	Y131F	probably damaging	Het
Pcdhb2	A	G	18: 37,429,059 (GRCm39)	D344G	probably damaging	Het
Pclo	T	C	5: 14,731,824 (GRCm39)	V3442A	unknown	Het
Ppp2r2d	C	T	7: 138,474,651 (GRCm39)	R11*	probably null	Het
Ptgfr	T	A	3: 151,541,500 (GRCm39)	M3L	probably benign	Het
Rfx6	A	G	10: 51,601,903 (GRCm39)	S741G	probably benign	Het
Rif1	T	C	2: 51,980,273 (GRCm39)	V490A	probably damaging	Het
Samd7	T	A	3: 30,816,302 (GRCm39)	H349Q	probably damaging	Het
Sh3pxd2a	T	C	19: 47,302,482 (GRCm39)	N199S	probably damaging	Het
Spef2	T	A	15: 9,667,305 (GRCm39)	K794N	possibly damaging	Het
Spta1	C	T	1: 174,041,484 (GRCm39)	A1316V	probably damaging	Het
Vwa7	A	G	17: 35,240,575 (GRCm39)	E410G	probably benign	Het
Washc2	T	A	6: 116,215,084 (GRCm39)		probably benign	Het
Wdr72	A	C	9: 74,064,711 (GRCm39)	Y581S	probably damaging	Het
Zdhhc17	T	C	10: 110,796,877 (GRCm39)	D298G	probably damaging	Het

Other mutations in Polr3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Polr3c	APN	3	96,620,836 (GRCm39)	missense	probably damaging	1.00
IGL01904:Polr3c	APN	3	96,623,981 (GRCm39)	critical splice donor site	probably null
IGL01964:Polr3c	APN	3	96,619,291 (GRCm39)	unclassified	probably benign
IGL02640:Polr3c	APN	3	96,624,002 (GRCm39)	missense	probably damaging	0.98
IGL02955:Polr3c	APN	3	96,621,628 (GRCm39)	missense	probably damaging	1.00
IGL03129:Polr3c	APN	3	96,626,770 (GRCm39)	splice site	probably benign
R0503:Polr3c	UTSW	3	96,620,952 (GRCm39)	splice site	probably null
R0800:Polr3c	UTSW	3	96,626,627 (GRCm39)	missense	probably damaging	0.99
R0881:Polr3c	UTSW	3	96,631,163 (GRCm39)	missense	probably damaging	0.99
R1763:Polr3c	UTSW	3	96,620,911 (GRCm39)	missense	probably damaging	1.00
R1931:Polr3c	UTSW	3	96,626,614 (GRCm39)	missense	probably damaging	1.00
R1932:Polr3c	UTSW	3	96,626,614 (GRCm39)	missense	probably damaging	1.00
R1994:Polr3c	UTSW	3	96,621,689 (GRCm39)	splice site	probably null
R3771:Polr3c	UTSW	3	96,633,170 (GRCm39)	missense	probably damaging	1.00
R4116:Polr3c	UTSW	3	96,622,560 (GRCm39)	missense	probably damaging	1.00
R4614:Polr3c	UTSW	3	96,623,787 (GRCm39)	missense	probably benign	0.00
R4732:Polr3c	UTSW	3	96,630,977 (GRCm39)	missense	probably damaging	1.00
R4733:Polr3c	UTSW	3	96,630,977 (GRCm39)	missense	probably damaging	1.00
R5057:Polr3c	UTSW	3	96,619,373 (GRCm39)	missense	probably damaging	0.98
R5058:Polr3c	UTSW	3	96,630,833 (GRCm39)	missense	probably benign	0.01
R5756:Polr3c	UTSW	3	96,621,450 (GRCm39)	missense	probably damaging	1.00
R6005:Polr3c	UTSW	3	96,626,784 (GRCm39)	missense	possibly damaging	0.96
R6009:Polr3c	UTSW	3	96,620,930 (GRCm39)	missense	probably damaging	1.00
R6580:Polr3c	UTSW	3	96,634,659 (GRCm39)	splice site	probably null
R7003:Polr3c	UTSW	3	96,630,954 (GRCm39)	missense	possibly damaging	0.94
R7475:Polr3c	UTSW	3	96,622,501 (GRCm39)	missense	probably benign	0.11
R8065:Polr3c	UTSW	3	96,622,968 (GRCm39)	missense	probably null	0.80
R8067:Polr3c	UTSW	3	96,622,968 (GRCm39)	missense	probably null	0.80
R8478:Polr3c	UTSW	3	96,624,066 (GRCm39)	splice site	probably benign
R8729:Polr3c	UTSW	3	96,634,796 (GRCm39)	unclassified	probably benign
R8865:Polr3c	UTSW	3	96,622,517 (GRCm39)	unclassified	probably benign
R9532:Polr3c	UTSW	3	96,629,866 (GRCm39)	missense	probably null

Posted On

2016-08-02