Mutagenetix > Incidental Mutation

Incidental Mutation 'R8025:Polr1c'

617674

Institutional Source

Beutler Lab

Gene Symbol

Polr1c

Ensembl Gene

ENSMUSG00000067148

Gene Name

polymerase (RNA) I polypeptide C

Synonyms

40kDa, Rpo1-1, RPA40

MMRRC Submission

067464-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8025 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

46554846-46558971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 46555974 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 162 (L162P)

Ref Sequence

ENSEMBL: ENSMUSP00000084252 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000087031] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000142706] [ENSMUST00000173232] [ENSMUST00000173349]

AlphaFold

P52432

Predicted Effect

probably damaging
Transcript: ENSMUST00000087026
AA Change: L162P

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

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: L162P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000087031

SMART Domains

Protein: ENSMUSP00000084257
Gene: ENSMUSG00000067150

Domain	Start	End	E-Value	Type
IBN_N	33	100	6.73e-3	SMART
Pfam:Xpo1	109	271	1.4e-34	PFAM
low complexity region	326	342	N/A	INTRINSIC
low complexity region	770	779	N/A	INTRINSIC

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

probably damaging
Transcript: ENSMUST00000124655
AA Change: L76P

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

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148
AA Change: L76P

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 damaging
Transcript: ENSMUST00000142706
AA Change: L178P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
AA Change: L178P

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

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

possibly damaging
Transcript: ENSMUST00000173349
AA Change: L126P

PolyPhen 2 Score 0.808 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148
AA Change: L126P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579G24Rik	T	G	3: 79,536,635 (GRCm39)	L51R	probably damaging	Het
Actl7b	T	C	4: 56,741,137 (GRCm39)	T74A	probably damaging	Het
Aip	C	A	19: 4,165,346 (GRCm39)	A207S	probably benign	Het
AL732309.1	A	G	2: 25,136,331 (GRCm39)		probably benign	Het
Apcdd1	G	T	18: 63,069,979 (GRCm39)	C82F	probably damaging	Het
Arhgap42	T	G	9: 9,005,823 (GRCm39)	I736L	probably benign	Het
Baz1a	A	T	12: 54,955,921 (GRCm39)	I1056N	probably benign	Het
Bzw2	T	C	12: 36,157,517 (GRCm39)	E316G	probably damaging	Het
Carns1	A	T	19: 4,216,505 (GRCm39)	I559N	probably damaging	Het
Chrnb2	A	T	3: 89,668,649 (GRCm39)	V222E	probably damaging	Het
Cngb3	A	T	4: 19,280,960 (GRCm39)	N10Y	possibly damaging	Het
Dennd1b	A	G	1: 139,038,158 (GRCm39)	K267E		Het
Dhx32	A	G	7: 133,323,100 (GRCm39)	Y705H	probably damaging	Het
Dnah7c	G	A	1: 46,496,456 (GRCm39)	V114I	probably benign	Het
Dnah8	T	A	17: 30,960,311 (GRCm39)	C2229*	probably null	Het
Dync2i2	T	C	2: 29,938,730 (GRCm39)	Q51R	probably benign	Het
Gm14401	T	C	2: 176,778,249 (GRCm39)	F112L	probably damaging	Het
Gm57858	C	A	3: 36,073,136 (GRCm39)	R382L	probably damaging	Het
Habp4	G	A	13: 64,322,645 (GRCm39)	R238H	probably benign	Het
Herpud1	A	G	8: 95,119,149 (GRCm39)	Y301C	probably damaging	Het
Itih5	G	A	2: 10,245,833 (GRCm39)	A641T	probably benign	Het
Kcns3	A	T	12: 11,141,846 (GRCm39)	N284K	probably damaging	Het
Mcrs1	G	A	15: 99,144,814 (GRCm39)	Q267*	probably null	Het
Midn	G	A	10: 79,991,126 (GRCm39)	A379T	probably benign	Het
Muc21	GTGCTGGATTCAGTGGTGGGCAGGGTGGGGGTAGAGCCTGAGCCACTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	GTGCTGGATGCAGTGGTGGTCAGGGTGGGTGTAGAGCCTGAGCCA	17: 35,931,879 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,127,224 (GRCm39)	N996K	probably benign	Het
Or2d36	A	G	7: 106,746,930 (GRCm39)	M136V	possibly damaging	Het
Or4d2b	A	T	11: 87,779,777 (GRCm39)		probably null	Het
Or51f5	T	C	7: 102,424,463 (GRCm39)	V244A	probably benign	Het
Or5m11	A	T	2: 85,781,856 (GRCm39)	I150F	probably benign	Het
Or7e175	T	C	9: 20,048,928 (GRCm39)	V172A	probably benign	Het
Parpbp	T	C	10: 87,928,970 (GRCm39)	D490G	probably benign	Het
Pcbp2	T	A	15: 102,396,711 (GRCm39)	S262R	probably benign	Het
Pcdhgc5	T	C	18: 37,953,992 (GRCm39)	I422T	possibly damaging	Het
Pcsk5	T	A	19: 17,538,415 (GRCm39)		probably benign	Het
Plxna1	G	A	6: 89,308,254 (GRCm39)	R1278W	probably damaging	Het
Rasl2-9	A	G	7: 5,128,481 (GRCm39)	S150P	probably damaging	Het
Raver2	C	A	4: 100,960,162 (GRCm39)	S214*	probably null	Het
Rbpjl	C	A	2: 164,252,166 (GRCm39)		probably benign	Het
Rec114	T	G	9: 58,567,605 (GRCm39)	E127A	possibly damaging	Het
Recql5	C	A	11: 115,818,938 (GRCm39)	L209F	probably damaging	Het
Rgs11	T	C	17: 26,423,359 (GRCm39)		probably null	Het
Rgs3	C	A	4: 62,608,831 (GRCm39)	H366N	probably damaging	Het
Rnf148	C	T	6: 23,654,196 (GRCm39)	D267N	possibly damaging	Het
Scn1a	T	C	2: 66,148,557 (GRCm39)	N1007S	probably benign	Het
Sdcbp	A	G	4: 6,393,022 (GRCm39)	T220A	probably benign	Het
Sema5a	A	G	15: 32,548,928 (GRCm39)	N134S	probably benign	Het
Smg1	G	A	7: 117,806,212 (GRCm39)	Q210*	probably null	Het
Snx7	A	G	3: 117,626,526 (GRCm39)	V328A	probably benign	Het
Sult1c2	A	T	17: 54,138,837 (GRCm39)	S247T	probably benign	Het
Tceanc2	C	T	4: 106,996,997 (GRCm39)		probably null	Het
Tead3	T	C	17: 28,554,009 (GRCm39)	D141G	probably benign	Het
Tlcd5	T	A	9: 43,022,848 (GRCm39)	T169S	probably benign	Het
Ube3b	T	C	5: 114,546,270 (GRCm39)	M692T	probably damaging	Het
Vmn1r188	T	C	13: 22,272,084 (GRCm39)	F13L	probably benign	Het
Vmn2r3	A	G	3: 64,182,871 (GRCm39)	V276A	possibly damaging	Het
Vmn2r57	A	G	7: 41,076,183 (GRCm39)	I443T	probably benign	Het
Vps33a	T	C	5: 123,696,738 (GRCm39)	N305S	possibly damaging	Het
Vps33b	A	T	7: 79,940,094 (GRCm39)		probably benign	Het
Wdr72	T	A	9: 74,050,781 (GRCm39)	M91K	probably benign	Het
Xylb	T	C	9: 119,210,569 (GRCm39)	F351L	probably damaging	Het
Zan	C	T	5: 137,404,614 (GRCm39)	D3883N	unknown	Het
Zfp82	T	A	7: 29,756,278 (GRCm39)	H268L	probably damaging	Het

Other mutations in Polr1c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01412:Polr1c	APN	17	46,555,135 (GRCm39)	missense	probably damaging	1.00
IGL02035:Polr1c	APN	17	46,557,085 (GRCm39)	missense	possibly damaging	0.72
R0068:Polr1c	UTSW	17	46,555,829 (GRCm39)	missense	probably benign	0.00
R0457:Polr1c	UTSW	17	46,558,689 (GRCm39)	missense	probably benign	0.00
R0828:Polr1c	UTSW	17	46,555,990 (GRCm39)	missense	probably damaging	0.96
R0881:Polr1c	UTSW	17	46,555,539 (GRCm39)	missense	possibly damaging	0.69
R1322:Polr1c	UTSW	17	46,555,089 (GRCm39)	missense	possibly damaging	0.74
R1518:Polr1c	UTSW	17	46,558,821 (GRCm39)	missense	possibly damaging	0.89
R3765:Polr1c	UTSW	17	46,558,850 (GRCm39)	missense	probably damaging	0.99
R4212:Polr1c	UTSW	17	46,557,046 (GRCm39)	missense	probably damaging	0.97
R4548:Polr1c	UTSW	17	46,558,735 (GRCm39)	splice site	probably null
R5017:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R5018:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R5039:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R5167:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R5168:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R5971:Polr1c	UTSW	17	46,558,635 (GRCm39)	intron	probably benign
R6979:Polr1c	UTSW	17	46,557,095 (GRCm39)	missense	probably damaging	1.00
R7812:Polr1c	UTSW	17	46,557,053 (GRCm39)	missense	probably damaging	1.00
R7869:Polr1c	UTSW	17	46,555,817 (GRCm39)	missense	probably benign	0.00
R9186:Polr1c	UTSW	17	46,556,633 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATGAGGATGTCGTCGTGCAC -3'
(R):5'- CTTCTTGTCAGCCTGGTATTAGAG -3'

Sequencing Primer
(F):5'- ATGTCGTCGTGCACTGGAC -3'
(R):5'- TTTACTCCAAGCACTGGCAGAGG -3'

Posted On

2020-01-23