Mutagenetix > Incidental Mutation

Incidental Mutation 'R9186:Polr1c'

697408

Institutional Source

Beutler Lab

Gene Symbol

Polr1c

Ensembl Gene

ENSMUSG00000067148

Gene Name

polymerase (RNA) I polypeptide C

Synonyms

40kDa, Rpo1-1, RPA40

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9186 (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 T at 46556633 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 97 (N97K)

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: N97K

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

SMART Domains

Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: N97K

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: N11K

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

SMART Domains

Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148
AA Change: N11K

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: N113K

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

SMART Domains

Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
AA Change: N113K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173232
AA Change: N97K

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

SMART Domains

Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148
AA Change: N97K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000173349
AA Change: N61K

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

SMART Domains

Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148
AA Change: N61K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	C	A	9: 57,164,472 (GRCm39)	R634L	probably damaging	Het
Ankhd1	T	C	18: 36,767,383 (GRCm39)	I210T	possibly damaging	Het
Ankle2	G	A	5: 110,400,610 (GRCm39)	V649M	possibly damaging	Het
Arid3b	A	T	9: 57,702,217 (GRCm39)		probably null	Het
Arl10	A	G	13: 54,726,620 (GRCm39)	N133D	probably damaging	Het
Bag6	C	T	17: 35,363,667 (GRCm39)	R784W	probably damaging	Het
Ccnl1	T	C	3: 65,865,426 (GRCm39)	T42A	unknown	Het
Cd164	C	A	10: 41,404,695 (GRCm39)	P151Q	probably damaging	Het
Cdh23	G	A	10: 60,143,306 (GRCm39)	A3005V	possibly damaging	Het
Ceacam2	T	A	7: 25,227,213 (GRCm39)	N218I	probably damaging	Het
Cfap97	C	T	8: 46,644,665 (GRCm39)	R466C	possibly damaging	Het
Colgalt2	C	A	1: 152,384,403 (GRCm39)	T581K	probably damaging	Het
Dnah11	T	A	12: 118,154,632 (GRCm39)	D216V	probably benign	Het
Dusp13b	A	T	14: 21,798,563 (GRCm39)	S34T	probably damaging	Het
Esf1	T	A	2: 139,990,792 (GRCm39)	K564I	possibly damaging	Het
F5	A	G	1: 164,021,470 (GRCm39)	N1315S	probably benign	Het
Fubp1	A	T	3: 151,926,153 (GRCm39)	M292L	probably damaging	Het
Gabrb2	A	T	11: 42,378,200 (GRCm39)	M139L	possibly damaging	Het
Gk5	T	A	9: 96,015,469 (GRCm39)	V95D	probably benign	Het
Glcci1	C	A	6: 8,537,826 (GRCm39)	P148Q	possibly damaging	Het
Gm19410	A	T	8: 36,282,629 (GRCm39)	S1952C	possibly damaging	Het
Gstm4	T	C	3: 107,952,049 (GRCm39)		probably benign	Het
Heatr1	T	A	13: 12,436,227 (GRCm39)	L1211Q	probably damaging	Het
Helz2	A	G	2: 180,876,457 (GRCm39)	S1346P	possibly damaging	Het
Hexb	A	C	13: 97,325,836 (GRCm39)	V158G	probably damaging	Het
Hipk3	T	C	2: 104,301,439 (GRCm39)	E251G	probably damaging	Het
Hps5	T	C	7: 46,438,370 (GRCm39)	Y89C	probably damaging	Het
Iqub	A	T	6: 24,450,766 (GRCm39)	V611D	possibly damaging	Het
Itgbl1	G	A	14: 124,094,970 (GRCm39)	D332N	probably benign	Het
Krtap26-1	C	A	16: 88,444,609 (GRCm39)	R4L	unknown	Het
Lgi3	A	G	14: 70,772,193 (GRCm39)	Y246C	probably damaging	Het
Mug2	T	A	6: 122,052,248 (GRCm39)	I1002N	probably damaging	Het
Myo18a	C	T	11: 77,749,847 (GRCm39)	T66M		Het
Naip6	T	C	13: 100,436,390 (GRCm39)	D711G	possibly damaging	Het
Or4f59	C	A	2: 111,873,095 (GRCm39)	C94F	probably damaging	Het
Orc5	T	A	5: 22,752,944 (GRCm39)	Q48L	probably benign	Het
Oxct2a	C	A	4: 123,216,461 (GRCm39)	A307S	probably damaging	Het
Pgls	T	C	8: 72,048,833 (GRCm39)	*258Q	probably null	Het
Plekha6	C	T	1: 133,220,171 (GRCm39)	R955W	probably damaging	Het
Prr27	C	A	5: 87,990,994 (GRCm39)	P202Q	probably benign	Het
Prtg	T	C	9: 72,764,159 (GRCm39)	V544A	probably benign	Het
Rbl2	G	A	8: 91,828,006 (GRCm39)	G574S	probably damaging	Het
Scamp1	T	A	13: 94,344,682 (GRCm39)	T272S	possibly damaging	Het
Sun2	T	A	15: 79,611,737 (GRCm39)	D562V	probably damaging	Het
Szt2	A	G	4: 118,242,288 (GRCm39)	F1565S	probably damaging	Het
Tatdn2	C	T	6: 113,687,125 (GRCm39)	R779C	probably benign	Het
Tbc1d30	T	C	10: 121,111,639 (GRCm39)	I430V	probably benign	Het
Tmem86b	T	C	7: 4,632,725 (GRCm39)	D43G	probably damaging	Het
Tnrc18	T	C	5: 142,773,488 (GRCm39)	N447S		Het
Trmt2a	T	C	16: 18,069,033 (GRCm39)	S292P	probably benign	Het
Trpc2	T	C	7: 101,737,492 (GRCm39)	V428A	probably damaging	Het
Tsc2	T	C	17: 24,823,862 (GRCm39)	E981G	probably damaging	Het
Ucp1	G	T	8: 84,017,272 (GRCm39)	G21*	probably null	Het
Utrn	T	C	10: 12,490,318 (GRCm39)	T21A	probably benign	Het
Vapa	A	T	17: 65,900,507 (GRCm39)	N88K	probably damaging	Het
Wasl	T	C	6: 24,664,615 (GRCm39)	R10G	probably damaging	Het
Zan	C	A	5: 137,391,810 (GRCm39)	V4662F	unknown	Het
Zap70	G	A	1: 36,818,832 (GRCm39)	M382I	possibly damaging	Het
Zdhhc17	T	C	10: 110,780,281 (GRCm39)	I624M	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
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
R8025:Polr1c	UTSW	17	46,555,974 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTAAAGCCCCAGCAGTAGG -3'
(R):5'- ACAGTCTGGGCTACATAGTAAAC -3'

Sequencing Primer
(F):5'- AGTAGGCCTGGGACCTGAG -3'
(R):5'- AAAGTGCTGCCTCTTCCT -3'

Posted On

2022-02-07