Mutagenetix > Incidental Mutation

Incidental Mutation 'R7812:Polr1c'

601261

Institutional Source

Beutler Lab

Gene Symbol

Polr1c

Ensembl Gene

ENSMUSG00000067148

Gene Name

polymerase (RNA) I polypeptide C

Synonyms

40kDa, Rpo1-1, RPA40

MMRRC Submission

045867-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7812 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

46554846-46558971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 46557053 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Tryptophan at position 77 (R77W)

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: R77W

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

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: R77W

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 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 damaging
Transcript: ENSMUST00000142706
AA Change: R77W

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

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
AA Change: R77W

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173232
AA Change: R77W

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

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148
AA Change: R77W

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,165,141 (GRCm39)	C411F	probably damaging	Het
Abhd17c	G	T	7: 83,800,624 (GRCm39)	Y143*	probably null	Het
Acad11	T	G	9: 103,972,747 (GRCm39)	L480R	probably benign	Het
Acad8	A	T	9: 26,890,476 (GRCm39)	N277K	probably damaging	Het
Adcy10	A	G	1: 165,342,938 (GRCm39)	Y268C	probably damaging	Het
Adm2	A	T	15: 89,208,367 (GRCm39)	R102S	possibly damaging	Het
Ambra1	A	T	2: 91,596,911 (GRCm39)	M1L	probably benign	Het
Angpt2	T	C	8: 18,742,161 (GRCm39)	N465S	probably benign	Het
Arhgap17	T	C	7: 122,879,290 (GRCm39)	I820M	unknown	Het
Atf7ip	G	A	6: 136,580,415 (GRCm39)	R1113Q	probably damaging	Het
Atp5pb	A	G	3: 105,851,157 (GRCm39)	V180A	probably benign	Het
Auts2	C	T	5: 131,501,284 (GRCm39)	R43H		Het
Cacna1g	A	T	11: 94,334,880 (GRCm39)	I809N	probably benign	Het
Cand1	A	T	10: 119,053,864 (GRCm39)	M158K	probably benign	Het
Cars1	T	A	7: 143,123,784 (GRCm39)	I500F	probably damaging	Het
Ccdc18	T	A	5: 108,328,699 (GRCm39)	M706K	probably benign	Het
Ccdc180	G	A	4: 45,906,952 (GRCm39)		probably null	Het
Ces1f	A	G	8: 93,984,938 (GRCm39)	V463A	probably benign	Het
Cndp1	G	T	18: 84,655,994 (GRCm39)	D58E	probably benign	Het
Csnk2b	A	T	17: 35,339,431 (GRCm39)	F21Y	probably benign	Het
Dgkg	C	G	16: 22,385,165 (GRCm39)	R447T	probably damaging	Het
Dnajc12	A	G	10: 63,242,905 (GRCm39)	D141G	probably benign	Het
Edar	A	G	10: 58,465,926 (GRCm39)	V4A	probably benign	Het
Elf1	A	G	14: 79,802,998 (GRCm39)	D117G	probably damaging	Het
Fam124b	T	C	1: 80,191,351 (GRCm39)	T11A	probably damaging	Het
Fgl2	C	A	5: 21,577,896 (GRCm39)	T61K	probably benign	Het
Furin	T	C	7: 80,045,722 (GRCm39)	N218S	possibly damaging	Het
Gcn1	T	A	5: 115,731,751 (GRCm39)	H955Q	possibly damaging	Het
Gucy2e	A	G	11: 69,117,069 (GRCm39)	I784T	probably damaging	Het
Ice1	T	A	13: 70,751,124 (GRCm39)	Q1654L	possibly damaging	Het
Klhl28	T	C	12: 64,990,363 (GRCm39)	N526S	possibly damaging	Het
Ldlrad4	C	A	18: 68,239,742 (GRCm39)	P54Q	probably benign	Het
Lsm14a	A	G	7: 34,088,301 (GRCm39)		probably benign	Het
Mdga1	A	G	17: 30,062,115 (GRCm39)	V438A	probably benign	Het
Mrto4	A	G	4: 139,075,278 (GRCm39)	V175A	possibly damaging	Het
Nav2	T	G	7: 49,246,921 (GRCm39)	S2149A	probably benign	Het
Nr4a2	A	G	2: 57,002,430 (GRCm39)	Y8H	probably damaging	Het
Or10q12	T	C	19: 13,746,380 (GRCm39)	F225L	probably benign	Het
Or1j12	T	A	2: 36,343,290 (GRCm39)	I231N	probably benign	Het
Or1j18	A	T	2: 36,624,737 (GRCm39)	M135L	probably benign	Het
Or52e4	T	C	7: 104,705,894 (GRCm39)	L147P	possibly damaging	Het
Oxr1	T	A	15: 41,615,138 (GRCm39)	M1K	probably null	Het
Pbx3	T	C	2: 34,114,478 (GRCm39)	Y152C	probably damaging	Het
Pcdhb13	T	A	18: 37,575,645 (GRCm39)	C8S	probably benign	Het
Psg25	A	T	7: 18,255,093 (GRCm39)	N474K	possibly damaging	Het
Ralgapa1	T	A	12: 55,766,413 (GRCm39)	M838L	possibly damaging	Het
Ranbp2	A	G	10: 58,303,224 (GRCm39)	T799A	probably benign	Het
Sbf2	C	T	7: 110,049,170 (GRCm39)	V265I	possibly damaging	Het
Scarf2	G	A	16: 17,621,692 (GRCm39)	G381R	probably damaging	Het
Shprh	A	G	10: 11,027,735 (GRCm39)	Q114R	probably benign	Het
Sipa1l2	A	C	8: 126,218,334 (GRCm39)	D334E	probably damaging	Het
Slc26a4	T	A	12: 31,594,449 (GRCm39)	I300F	probably damaging	Het
Sox7	C	T	14: 64,185,681 (GRCm39)	T239I	probably benign	Het
Sry	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG	Y: 2,662,638 (GRCm39)		probably benign	Het
St6galnac1	G	T	11: 116,659,927 (GRCm39)	H129N	probably benign	Het
Stxbp4	A	G	11: 90,485,654 (GRCm39)	L231P	probably damaging	Het
Syngap1	A	C	17: 27,160,478 (GRCm39)	Y18S	probably benign	Het
Tenm3	T	C	8: 48,729,335 (GRCm39)	Y1557C	probably benign	Het
Trim44	G	T	2: 102,230,489 (GRCm39)	P181T	possibly damaging	Het
Trp53i13	A	T	11: 77,399,666 (GRCm39)	V221D	possibly damaging	Het
Trpm7	A	G	2: 126,641,236 (GRCm39)	S1554P	probably damaging	Het
Vcl	A	G	14: 21,045,158 (GRCm39)	N288D	probably benign	Het
Vmn2r59	A	T	7: 41,695,196 (GRCm39)	Y405*	probably null	Het
Vps35	T	C	8: 86,010,818 (GRCm39)	D175G	probably benign	Het
Wdr90	A	T	17: 26,071,532 (GRCm39)	L949Q	probably damaging	Het
Wwp1	G	A	4: 19,639,991 (GRCm39)	T517I	probably damaging	Het
Zfp462	T	G	4: 55,008,509 (GRCm39)	F158L	probably benign	Het
Zfp703	T	A	8: 27,469,906 (GRCm39)	H523Q	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
R7869:Polr1c	UTSW	17	46,555,817 (GRCm39)	missense	probably benign	0.00
R8025:Polr1c	UTSW	17	46,555,974 (GRCm39)	missense	probably damaging	1.00
R9186:Polr1c	UTSW	17	46,556,633 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGGACTATGGACGTGTTG -3'
(R):5'- TGAGCACCATGACTTTAGGG -3'

Sequencing Primer
(F):5'- GGACGTGTTGTTATACACCAAGACC -3'
(R):5'- ACCATGACTTTAGGGTGAGGG -3'

Posted On

2019-11-26