Mutagenetix > Incidental Mutation

Incidental Mutation 'R1322:Polr1c'

157724

Institutional Source

Beutler Lab

Gene Symbol

Polr1c

Ensembl Gene

ENSMUSG00000067148

Gene Name

polymerase (RNA) I polypeptide C

Synonyms

40kDa, Rpo1-1, RPA40

MMRRC Submission

039388-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1322 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

46554846-46558971 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 46555089 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 327 (K327R)

Ref Sequence

ENSEMBL: ENSMUSP00000084252 (fasta)

Gene Model

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

AlphaFold

P52432

Predicted Effect

possibly damaging
Transcript: ENSMUST00000087026
AA Change: K327R

PolyPhen 2 Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: K327R

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

noncoding transcript
Transcript: ENSMUST00000124126

Predicted Effect

probably benign
Transcript: ENSMUST00000124655
AA Change: K241R

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148
AA Change: K241R

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

noncoding transcript
Transcript: ENSMUST00000152583

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174392

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151488

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

probably benign
Transcript: ENSMUST00000173349

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148

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

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

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.9%
20x: 92.5%

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aco2	C	T	15: 81,779,394 (GRCm39)	S33L	probably damaging	Het
Col27a1	A	C	4: 63,246,803 (GRCm39)		probably benign	Het
Fam184a	G	T	10: 53,528,415 (GRCm39)	D815E	probably damaging	Het
Gjb3	G	A	4: 127,220,224 (GRCm39)	R103W	probably damaging	Het
Gpr162	G	T	6: 124,835,864 (GRCm39)	T512K	probably damaging	Het
Hipk1	A	T	3: 103,651,297 (GRCm39)	S1155R	probably damaging	Het
Itih2	A	G	2: 10,114,333 (GRCm39)	V417A	probably damaging	Het
Kmt2a	A	G	9: 44,732,418 (GRCm39)		probably benign	Het
Mecom	G	T	3: 30,011,522 (GRCm39)	P670Q	probably damaging	Het
Mgat4d	A	G	8: 84,092,354 (GRCm39)	T247A	possibly damaging	Het
Nrbp1	T	A	5: 31,403,157 (GRCm39)	I210N	probably damaging	Het
Or7g18	T	C	9: 18,786,817 (GRCm39)	F65L	possibly damaging	Het
Prpf39	A	T	12: 65,089,436 (GRCm39)	N58I	possibly damaging	Het
Sh3bp2	T	A	5: 34,712,837 (GRCm39)	N92K	probably damaging	Het
Sppl3	TGG	TG	5: 115,226,352 (GRCm39)		probably null	Het
Tnc	C	T	4: 63,932,231 (GRCm39)	V728M	probably damaging	Het
Trgc3	T	C	13: 19,445,364 (GRCm39)	F104S	probably benign	Het
Vmn2r88	T	G	14: 51,651,565 (GRCm39)	I293S	probably damaging	Het
Zfp251	C	T	15: 76,738,436 (GRCm39)	R219Q	possibly damaging	Het
Zfp930	A	G	8: 69,680,820 (GRCm39)	T171A	probably benign	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
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
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'- GCTGAGGCAAGGCTCATTACTAGAC -3'
(R):5'- AGGGAAATCTTCCGGCATGAGAAAC -3'

Sequencing Primer
(F):5'- CCTTACAAAGGCAAAGGTGTCTG -3'
(R):5'- TCTTCCGGCATGAGAAACTCAAG -3'

Posted On

2014-02-18