Mutagenetix > Incidental Mutations

Incidental Mutation 'R6009:Polr3c'

479634

Institutional Source

Beutler Lab

Gene Symbol

Polr3c

Ensembl Gene

ENSMUSG00000028099

Gene Name

polymerase (RNA) III (DNA directed) polypeptide C

Synonyms

4933407E01Rik, RPC62, RPC3

MMRRC Submission

044186-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R6009 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96711490-96727628 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 96713614 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 463 (S463P)

Ref Sequence

ENSEMBL: ENSMUSP00000122435 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000029741
AA Change: S463P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: S463P

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

probably damaging
Transcript: ENSMUST00000154679
AA Change: S463P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: S463P

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

Meta Mutation Damage Score

0.3519

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.3%
20x: 91.5%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,978,497		probably benign	Het
Afap1	T	C	5: 35,997,560	S683P	probably damaging	Het
Chid1	T	A	7: 141,529,580	D131V	probably damaging	Het
Clstn2	C	T	9: 97,456,526	R860Q	probably benign	Het
Crlf1	A	C	8: 70,503,479	K403T	probably damaging	Het
Ctdspl2	T	G	2: 121,988,838	N201K	probably benign	Het
Cyb561a3	G	A	19: 10,586,808	V171I	possibly damaging	Het
Dazap1	T	C	10: 80,285,304		probably benign	Het
Dbf4	G	T	5: 8,403,718	Q235K	probably damaging	Het
Dgka	C	T	10: 128,723,679	G471D	probably damaging	Het
Fam13b	A	T	18: 34,497,405	F100Y	possibly damaging	Het
Flii	A	T	11: 60,720,757	L376*	probably null	Het
Fnip1	G	T	11: 54,502,271	G487V	probably damaging	Het
Gm7247	C	T	14: 51,364,348	S26F	probably benign	Het
Golgb1	G	T	16: 36,914,959	A1523S	probably damaging	Het
Gstm4	A	G	3: 108,043,343	V114A	possibly damaging	Het
Gtf3c1	A	G	7: 125,647,430	F1569S	possibly damaging	Het
Gtf3c5	A	T	2: 28,571,165	D312E	probably benign	Het
Gtpbp1	G	A	15: 79,712,096	V149M	probably damaging	Het
Hoxa7	C	T	6: 52,217,387	V7M	probably damaging	Het
Il17f	C	T	1: 20,779,286		probably null	Het
Ints9	T	C	14: 65,008,082	V263A	probably benign	Het
Kansl1l	C	T	1: 66,735,600	C689Y	probably benign	Het
Kctd7	G	A	5: 130,145,198	G39E	probably damaging	Het
Krt82	T	A	15: 101,545,105	D282V	probably benign	Het
Lemd1	G	T	1: 132,228,252	E11*	probably null	Het
Maml2	A	G	9: 13,620,998	T503A	probably benign	Het
Mief2	A	G	11: 60,731,659	T352A	probably benign	Het
Msantd1	C	A	5: 34,917,705	T37K	probably benign	Het
Mtus2	A	G	5: 148,306,652	E94G	probably damaging	Het
Naaa	A	T	5: 92,259,581	L353Q	probably benign	Het
Nek5	T	C	8: 22,120,822	E55G	probably benign	Het
Npat	T	C	9: 53,563,449	M847T	probably damaging	Het
Nus1	G	A	10: 52,433,443	V268I	probably benign	Het
Olfr550	A	G	7: 102,578,594	N33S	possibly damaging	Het
Parn	C	T	16: 13,667,564	D23N	probably damaging	Het
Pdgfa	T	C	5: 138,979,199	E176G	probably damaging	Het
Plcl1	T	A	1: 55,696,246	F249I	probably damaging	Het
Plscr5	C	T	9: 92,204,435	Q153*	probably null	Het
Polr2b	T	C	5: 77,320,252	I133T	probably benign	Het
Pprc1	A	T	19: 46,071,732	I1530L	probably damaging	Het
Prex1	C	T	2: 166,581,984	S996N	probably damaging	Het
Rnf169	C	A	7: 99,927,123	R291S	possibly damaging	Het
Setd5	A	G	6: 113,110,519	K127R	probably damaging	Het
Slc25a26	G	T	6: 94,510,826	V89L	probably benign	Het
Slc4a10	A	G	2: 62,046,690	T16A	probably benign	Het
Smchd1	A	T	17: 71,440,956	H430Q	probably damaging	Het
Ttll7	A	T	3: 146,934,535	D503V	probably damaging	Het
Vav2	A	T	2: 27,271,900		probably null	Het
Zfp345	A	T	2: 150,472,517	C367S	probably damaging	Het
Zfp651	T	C	9: 121,762,871	S86P	possibly damaging	Het
Zfp964	T	A	8: 69,663,456	H235Q	possibly 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
IGL01904:Polr3c	APN	3	96716665	critical splice donor site	probably null
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
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

Predicted Primers

PCR Primer
(F):5'- CTCACATTAAGGTGCAGAAGGC -3'
(R):5'- TGACCCCGAGTTTTAAGTGC -3'

Sequencing Primer
(F):5'- CCGTATTTGTTTGAAAGGCAATGC -3'
(R):5'- ACCCCGAGTTTTAAGTGCTACTGAG -3'

Posted On

2017-06-26