Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:Polr1c'

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395729

Institutional Source

Beutler Lab

Gene Symbol

Polr1c

Ensembl Gene

ENSMUSG00000067148

Gene Name

polymerase (RNA) I polypeptide C

Synonyms

RPA40, Rpo1-1, 40kDa

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

46243920-46248054 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

G to T at 46247709 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133861 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000142706] [ENSMUST00000173232] [ENSMUST00000173349]

Predicted Effect

probably benign
Transcript: ENSMUST00000087026

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	339	4.53e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000095263

SMART Domains

Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
low complexity region	59	75	N/A	INTRINSIC
transmembrane domain	146	168	N/A	INTRINSIC
transmembrane domain	183	205	N/A	INTRINSIC
transmembrane domain	212	234	N/A	INTRINSIC
transmembrane domain	238	260	N/A	INTRINSIC
transmembrane domain	272	294	N/A	INTRINSIC
low complexity region	320	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123311

SMART Domains

Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
transmembrane domain	51	73	N/A	INTRINSIC
transmembrane domain	88	110	N/A	INTRINSIC
transmembrane domain	117	139	N/A	INTRINSIC
transmembrane domain	143	165	N/A	INTRINSIC
transmembrane domain	177	199	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124126

Predicted Effect

probably benign
Transcript: ENSMUST00000124655

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	1	253	2.14e-93	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127378

SMART Domains

Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

Domain	Start	End	E-Value	Type
Pfam:Yip1	30	178	4.6e-13	PFAM
low complexity region	189	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142706

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	60	255	9.13e-47	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149989

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152583

Predicted Effect

probably benign
Transcript: ENSMUST00000173232

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_L	61	100	1.7e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174392

Predicted Effect

probably benign
Transcript: ENSMUST00000173349

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

Domain	Start	End	E-Value	Type
RPOLD	42	170	2.3e-5	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921501E09Rik	A	C	17: 33,067,760	C23G	probably damaging	Het
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	probably damaging	Het

Other mutations in Polr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Polr1c	APN	17	46244209	missense	probably damaging	1.00
IGL02035:Polr1c	APN	17	46246159	missense	possibly damaging	0.72
R0068:Polr1c	UTSW	17	46244903	missense	probably benign	0.00
R0457:Polr1c	UTSW	17	46247763	missense	probably benign	0.00
R0828:Polr1c	UTSW	17	46245064	missense	probably damaging	0.96
R0881:Polr1c	UTSW	17	46244613	missense	possibly damaging	0.69
R1322:Polr1c	UTSW	17	46244163	missense	possibly damaging	0.74
R1518:Polr1c	UTSW	17	46247895	missense	possibly damaging	0.89
R3765:Polr1c	UTSW	17	46247924	missense	probably damaging	0.99
R4212:Polr1c	UTSW	17	46246120	missense	probably damaging	0.97
R4548:Polr1c	UTSW	17	46247809	splice site	probably null
R5017:Polr1c	UTSW	17	46247709	intron	probably benign
R5018:Polr1c	UTSW	17	46247709	intron	probably benign
R5167:Polr1c	UTSW	17	46247709	intron	probably benign
R5168:Polr1c	UTSW	17	46247709	intron	probably benign
R5971:Polr1c	UTSW	17	46247709	intron	probably benign
R6979:Polr1c	UTSW	17	46246169	missense	probably damaging	1.00
R7812:Polr1c	UTSW	17	46246127	missense	probably damaging	1.00
R7869:Polr1c	UTSW	17	46244891	missense	probably benign	0.00
R8025:Polr1c	UTSW	17	46245048	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCTGGATTCAGTGCATCAATG -3'
(R):5'- GTTCGCAATGTAAGAGATCGGG -3'

Sequencing Primer
(F):5'- AGTGCATCAATGATTCCTGACC -3'
(R):5'- TGTAAGAGATCGGGGCGCG -3'

Posted On

2016-06-21