Mutagenetix > Incidental Mutation

Incidental Mutation 'R8478:Polr3c'

668195

Institutional Source

Beutler Lab

Gene Symbol

Polr3c

Ensembl Gene

ENSMUSG00000028099

Gene Name

polymerase (RNA) III (DNA directed) polypeptide C

Synonyms

4933407E01Rik, RPC62, RPC3

MMRRC Submission

067922-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R8478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

96618836-96634803 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 96624066 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000122435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029741] [ENSMUST00000154679]

AlphaFold

Q9D483

Predicted Effect

probably benign
Transcript: ENSMUST00000029741

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	9.4e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099
AA Change: T183I

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_Rpc82	20	180	5.9e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000154679

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	1.6e-26	PFAM
Pfam:RNA_pol_Rpc82	146	344	7.6e-46	PFAM

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	A	T	9: 107,805,844 (GRCm39)	I56F	possibly damaging	Het
Adgrl3	G	T	5: 81,942,348 (GRCm39)	R1357L	possibly damaging	Het
Alpk1	T	A	3: 127,522,961 (GRCm39)	D27V	probably damaging	Het
Als2	T	C	1: 59,225,175 (GRCm39)	E986G	probably damaging	Het
Ankle2	T	A	5: 110,400,818 (GRCm39)	L717Q	possibly damaging	Het
Arl8b	A	G	6: 108,760,285 (GRCm39)	T24A	possibly damaging	Het
Atp2a1	A	G	7: 126,047,502 (GRCm39)	I718T	probably damaging	Het
Atp6v0e2	T	A	6: 48,517,031 (GRCm39)	N70K	probably benign	Het
Bcl11a	A	G	11: 24,115,086 (GRCm39)	S810G	probably damaging	Het
Bcl2a1d	T	G	9: 88,605,488 (GRCm39)	*173S	probably null	Het
Bltp1	A	T	3: 37,087,426 (GRCm39)	D511V	possibly damaging	Het
Cacna1g	A	G	11: 94,317,278 (GRCm39)	Y1494H	probably damaging	Het
Ccdc7a	T	C	8: 129,487,850 (GRCm39)	K186E	possibly damaging	Het
Cfap43	T	C	19: 47,764,515 (GRCm39)	I817V	probably benign	Het
Chd5	C	T	4: 152,441,147 (GRCm39)	R196*	probably null	Het
Chsy1	C	T	7: 65,820,748 (GRCm39)	H328Y	probably benign	Het
Clcn3	A	T	8: 61,372,522 (GRCm39)	S713T	probably benign	Het
Csrnp3	A	T	2: 65,708,400 (GRCm39)		probably null	Het
Dnhd1	A	G	7: 105,332,001 (GRCm39)	N86S	probably benign	Het
Epha3	T	C	16: 63,593,444 (GRCm39)	T215A	probably damaging	Het
Fgf1	T	C	18: 38,987,944 (GRCm39)		probably null	Het
Fosl1	T	C	19: 5,504,947 (GRCm39)	S145P	probably damaging	Het
Frem3	T	A	8: 81,338,187 (GRCm39)	V160E	probably damaging	Het
Galk2	A	T	2: 125,771,505 (GRCm39)	K177*	probably null	Het
Gria1	T	C	11: 57,200,668 (GRCm39)	Y782H	probably damaging	Het
Gria4	C	T	9: 4,793,882 (GRCm39)	E59K	probably damaging	Het
Ighv1-11	A	G	12: 114,575,919 (GRCm39)	Y99H	possibly damaging	Het
Insm2	A	T	12: 55,647,330 (GRCm39)	Y358F	probably damaging	Het
Marveld3	C	T	8: 110,688,600 (GRCm39)	G47D	probably damaging	Het
Mthfd1l	A	G	10: 4,098,064 (GRCm39)	D967G	probably damaging	Het
Nav2	G	T	7: 49,111,733 (GRCm39)	M746I	probably damaging	Het
Niban1	C	A	1: 151,512,263 (GRCm39)	T55K	possibly damaging	Het
Nmnat1	A	G	4: 149,557,841 (GRCm39)	I67T	possibly damaging	Het
Nub1	G	T	5: 24,906,422 (GRCm39)	R316L	probably benign	Het
Nxn	A	G	11: 76,164,869 (GRCm39)	V214A	probably damaging	Het
Or52n5	C	A	7: 104,588,477 (GRCm39)	S248Y	probably benign	Het
Pelp1	A	T	11: 70,285,146 (GRCm39)	D907E	unknown	Het
Pik3c2a	A	T	7: 116,017,584 (GRCm39)	S58T	probably damaging	Het
Pik3ca	A	G	3: 32,505,997 (GRCm39)	N703S	probably benign	Het
Pon1	C	T	6: 5,185,318 (GRCm39)	G61R	probably damaging	Het
Pou2f1	A	T	1: 165,759,287 (GRCm39)	M1K	probably null	Het
Prkdc	T	A	16: 15,466,788 (GRCm39)	C90S	probably benign	Het
Prokr1	A	G	6: 87,558,330 (GRCm39)	Y352H	probably benign	Het
Rhod	C	T	19: 4,476,719 (GRCm39)	R134H	probably damaging	Het
Rufy3	C	T	5: 88,762,895 (GRCm39)	R110W	probably damaging	Het
Sema4c	A	T	1: 36,590,871 (GRCm39)	M460K	probably benign	Het
Slc46a3	T	C	5: 147,815,963 (GRCm39)	S455G	probably benign	Het
Smyd1	A	T	6: 71,193,811 (GRCm39)	H371Q	probably damaging	Het
Steap1	A	G	5: 5,786,432 (GRCm39)	M335T	probably benign	Het
Suox	A	G	10: 128,506,921 (GRCm39)	V369A	probably damaging	Het
Thbs2	T	C	17: 14,900,666 (GRCm39)	I514V	probably benign	Het
Tie1	A	T	4: 118,341,979 (GRCm39)		probably null	Het
Tmem131l	T	C	3: 83,805,769 (GRCm39)	E1558G	probably damaging	Het
Tpcn1	G	T	5: 120,698,386 (GRCm39)	H45Q	probably benign	Het
Ush1c	A	G	7: 45,870,857 (GRCm39)	S327P	probably damaging	Het
Ush2a	G	A	1: 188,175,429 (GRCm39)	V1176M	possibly damaging	Het
Utrn	A	G	10: 12,524,892 (GRCm39)	M2197T	probably benign	Het
Vmn1r50	G	T	6: 90,085,071 (GRCm39)	C272F	probably benign	Het
Vmn2r10	A	T	5: 109,143,636 (GRCm39)	N771K	probably damaging	Het
Vmn2r2	A	T	3: 64,024,257 (GRCm39)	F691I	possibly damaging	Het
Vmn2r53	T	C	7: 12,340,281 (GRCm39)	Q64R	probably benign	Het
Vmn2r95	G	T	17: 18,672,544 (GRCm39)	L760F	probably damaging	Het
Wdr97	T	C	15: 76,247,629 (GRCm39)		probably null	Het
Xdh	C	A	17: 74,213,053 (GRCm39)	E863D	probably benign	Het
Ykt6	A	G	11: 5,912,407 (GRCm39)	Y120C	possibly damaging	Het
Zranb2	A	G	3: 157,251,745 (GRCm39)	*321W	probably null	Het

Other mutations in Polr3c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01734:Polr3c	APN	3	96,620,836 (GRCm39)	missense	probably damaging	1.00
IGL01904:Polr3c	APN	3	96,623,981 (GRCm39)	critical splice donor site	probably null
IGL01964:Polr3c	APN	3	96,619,291 (GRCm39)	unclassified	probably benign
IGL02640:Polr3c	APN	3	96,624,002 (GRCm39)	missense	probably damaging	0.98
IGL02955:Polr3c	APN	3	96,621,628 (GRCm39)	missense	probably damaging	1.00
IGL03129:Polr3c	APN	3	96,626,770 (GRCm39)	splice site	probably benign
IGL03263:Polr3c	APN	3	96,621,567 (GRCm39)	splice site	probably benign
R0503:Polr3c	UTSW	3	96,620,952 (GRCm39)	splice site	probably null
R0800:Polr3c	UTSW	3	96,626,627 (GRCm39)	missense	probably damaging	0.99
R0881:Polr3c	UTSW	3	96,631,163 (GRCm39)	missense	probably damaging	0.99
R1763:Polr3c	UTSW	3	96,620,911 (GRCm39)	missense	probably damaging	1.00
R1931:Polr3c	UTSW	3	96,626,614 (GRCm39)	missense	probably damaging	1.00
R1932:Polr3c	UTSW	3	96,626,614 (GRCm39)	missense	probably damaging	1.00
R1994:Polr3c	UTSW	3	96,621,689 (GRCm39)	splice site	probably null
R3771:Polr3c	UTSW	3	96,633,170 (GRCm39)	missense	probably damaging	1.00
R4116:Polr3c	UTSW	3	96,622,560 (GRCm39)	missense	probably damaging	1.00
R4614:Polr3c	UTSW	3	96,623,787 (GRCm39)	missense	probably benign	0.00
R4732:Polr3c	UTSW	3	96,630,977 (GRCm39)	missense	probably damaging	1.00
R4733:Polr3c	UTSW	3	96,630,977 (GRCm39)	missense	probably damaging	1.00
R5057:Polr3c	UTSW	3	96,619,373 (GRCm39)	missense	probably damaging	0.98
R5058:Polr3c	UTSW	3	96,630,833 (GRCm39)	missense	probably benign	0.01
R5756:Polr3c	UTSW	3	96,621,450 (GRCm39)	missense	probably damaging	1.00
R6005:Polr3c	UTSW	3	96,626,784 (GRCm39)	missense	possibly damaging	0.96
R6009:Polr3c	UTSW	3	96,620,930 (GRCm39)	missense	probably damaging	1.00
R6580:Polr3c	UTSW	3	96,634,659 (GRCm39)	splice site	probably null
R7003:Polr3c	UTSW	3	96,630,954 (GRCm39)	missense	possibly damaging	0.94
R7475:Polr3c	UTSW	3	96,622,501 (GRCm39)	missense	probably benign	0.11
R8065:Polr3c	UTSW	3	96,622,968 (GRCm39)	missense	probably null	0.80
R8067:Polr3c	UTSW	3	96,622,968 (GRCm39)	missense	probably null	0.80
R8729:Polr3c	UTSW	3	96,634,796 (GRCm39)	unclassified	probably benign
R8865:Polr3c	UTSW	3	96,622,517 (GRCm39)	unclassified	probably benign
R9532:Polr3c	UTSW	3	96,629,866 (GRCm39)	missense	probably null

Predicted Primers

PCR Primer
(F):5'- CTTTCCTGTTGGGTGAAGGGAC -3'
(R):5'- TTATCACTGGACACTTGGGTTTT -3'

Sequencing Primer
(F):5'- ACTTTGTCTGGGATGGCTAAGTACAC -3'
(R):5'- TGGTCTACAAAGCGAGTTCC -3'

Posted On

2021-04-21