Mutagenetix > Incidental Mutation

Incidental Mutation 'R3771:Polr3c'

273261

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

040747-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96618836-96634803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 96633170 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 43 (T43S)

Ref Sequence

ENSEMBL: ENSMUSP00000122435 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029740] [ENSMUST00000029741] [ENSMUST00000125183] [ENSMUST00000141377] [ENSMUST00000154679] [ENSMUST00000199051]

AlphaFold

Q9D483

Predicted Effect

probably benign
Transcript: ENSMUST00000029740

SMART Domains

Protein: ENSMUSP00000029740
Gene: ENSMUSG00000028098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
RING	229	269	1.14e-8	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000029741
AA Change: T43S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: T43S

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

noncoding transcript
Transcript: ENSMUST00000083735

Predicted Effect

possibly damaging
Transcript: ENSMUST00000125183
AA Change: T43S

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000123513
Gene: ENSMUSG00000028099
AA Change: T43S

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	4.6e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000128918

SMART Domains

Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137009

Predicted Effect

probably damaging
Transcript: ENSMUST00000141377
AA Change: T43S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115300
Gene: ENSMUSG00000028099
AA Change: T43S

Domain	Start	End	E-Value	Type
Pfam:HTH_9	7	68	3.3e-27	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000154679
AA Change: T43S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: T43S

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000199974

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197075

Predicted Effect

probably benign
Transcript: ENSMUST00000199051

SMART Domains

Protein: ENSMUSP00000143321
Gene: ENSMUSG00000028098

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
Pfam:zf-RING_3	18	49	4.5e-9	PFAM

Meta Mutation Damage Score

0.2483

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,487,697 (GRCm39)	G132V	probably damaging	Het
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adam26b	T	A	8: 43,973,751 (GRCm39)	D417V	probably damaging	Het
Ank1	T	C	8: 23,613,913 (GRCm39)	S1482P	probably benign	Het
Aoc1l2	T	C	6: 48,908,130 (GRCm39)	Y377H	probably damaging	Het
Armc2	C	T	10: 41,798,223 (GRCm39)	V768M	probably damaging	Het
Ascc3	C	T	10: 50,596,814 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh12	A	T	15: 21,578,640 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,639,550 (GRCm39)	I184V	probably benign	Het
Dagla	G	A	19: 10,225,831 (GRCm39)	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,747,613 (GRCm39)	K107R	probably benign	Het
Dpyd	G	A	3: 119,205,927 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,964,171 (GRCm39)	K87T	probably benign	Het
Fap	C	A	2: 62,363,354 (GRCm39)	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,208,041 (GRCm39)	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Irf2bp2	T	C	8: 127,318,550 (GRCm39)	K339E	probably damaging	Het
Kat6b	A	G	14: 21,567,166 (GRCm39)	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,219,389 (GRCm39)	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,541,083 (GRCm39)	C725F	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrn3	T	A	12: 41,502,869 (GRCm39)	I483L	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Med23	G	T	10: 24,778,099 (GRCm39)	G810C	probably damaging	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Numb	T	C	12: 83,846,350 (GRCm39)	D344G	probably damaging	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Ogg1	T	C	6: 113,310,804 (GRCm39)	V317A	possibly damaging	Het
Or1o2	T	A	17: 37,542,356 (GRCm39)	I302F	possibly damaging	Het
Or6c69c	A	G	10: 129,911,143 (GRCm39)	Y288C	probably damaging	Het
Pclo	A	T	5: 14,589,422 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,088,174 (GRCm39)	M195T	probably benign	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,309,349 (GRCm39)	T134S	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf39	T	C	17: 37,258,121 (GRCm39)	W96R	probably damaging	Het
Ros1	G	T	10: 52,005,087 (GRCm39)	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tc2n	T	A	12: 101,660,833 (GRCm39)	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tex2	T	C	11: 106,437,720 (GRCm39)	D650G	unknown	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690 (GRCm39)	F16S	probably benign	Het
Usp16	T	C	16: 87,255,571 (GRCm39)	M1T	probably null	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Vpreb3	A	T	10: 75,775,800 (GRCm39)	V26E	probably benign	Het
Vps39	C	T	2: 120,172,497 (GRCm39)	V179I	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	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
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
R8478:Polr3c	UTSW	3	96,624,066 (GRCm39)	splice site	probably benign
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'- CACGGGGCCTAAGTACAATACC -3'
(R):5'- TGTGAAGAGAACTCATGGCATG -3'

Sequencing Primer
(F):5'- GGGGCCTAAGTACAATACCACACC -3'
(R):5'- GAGAACTCATGGCATGGTTTTTAC -3'

Posted On

2015-03-25