Mutagenetix > Incidental Mutation

Incidental Mutation 'R5058:Polr3c'

391002

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

042648-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R5058 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

96618836-96634803 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 96630833 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 196 (I196V)

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 benign
Transcript: ENSMUST00000029741
AA Change: I196V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000029741
Gene: ENSMUSG00000028099
AA Change: I196V

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

probably benign
Transcript: ENSMUST00000125183

SMART Domains

Protein: ENSMUSP00000123513
Gene: ENSMUSG00000028099

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

Predicted Effect

unknown
Transcript: ENSMUST00000128918
AA Change: I69V

SMART Domains

Protein: ENSMUSP00000119236
Gene: ENSMUSG00000028099
AA Change: I69V

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 benign
Transcript: ENSMUST00000141377
AA Change: I196V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000115300
Gene: ENSMUSG00000028099
AA Change: I196V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154679
AA Change: I196V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000122435
Gene: ENSMUSG00000028099
AA Change: I196V

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

0.0609

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.2%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	T	C	8: 13,292,625 (GRCm39)	Y222C	probably damaging	Het
Adprs	A	G	4: 126,212,238 (GRCm39)	S94P	probably damaging	Het
Atp11b	A	G	3: 35,863,510 (GRCm39)	E202G	probably benign	Het
Cacna1d	G	T	14: 29,836,201 (GRCm39)	S849*	probably null	Het
Camsap1	T	C	2: 25,829,375 (GRCm39)	D783G	probably benign	Het
Cbfa2t2	T	A	2: 154,346,665 (GRCm39)	I124N	probably damaging	Het
Ccdc13	A	T	9: 121,646,613 (GRCm39)		probably benign	Het
Cfap44	G	A	16: 44,240,567 (GRCm39)		probably null	Het
Col17a1	C	A	19: 47,673,989 (GRCm39)	E13*	probably null	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
Dennd6b	A	G	15: 89,071,553 (GRCm39)	L288P	possibly damaging	Het
Dhx37	A	C	5: 125,499,295 (GRCm39)	Y638D	probably benign	Het
Epb41	G	A	4: 131,734,746 (GRCm39)		probably benign	Het
Esp31	A	T	17: 38,955,500 (GRCm39)	I48L	possibly damaging	Het
Fat3	T	C	9: 15,908,154 (GRCm39)	Q2616R	probably damaging	Het
Fbxo33	A	G	12: 59,265,919 (GRCm39)	I116T	probably benign	Het
Flnb	G	T	14: 7,924,262 (GRCm38)	E1792*	probably null	Het
Fzd2	G	A	11: 102,495,633 (GRCm39)	G26R	probably damaging	Het
Gm11677	T	A	11: 111,616,264 (GRCm39)		noncoding transcript	Het
Gm7137	A	T	10: 77,623,905 (GRCm39)		probably benign	Het
Hnrnpr	A	G	4: 136,063,648 (GRCm39)	T252A	possibly damaging	Het
Hyal5	T	C	6: 24,891,484 (GRCm39)	F433L	probably damaging	Het
Kcnmb4	T	A	10: 116,299,833 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,706,421 (GRCm39)		probably null	Het
Mllt6	G	A	11: 97,560,326 (GRCm39)	S210N	possibly damaging	Het
Muc6	T	C	7: 141,230,491 (GRCm39)	D1213G	probably benign	Het
Ncam1	A	C	9: 49,709,995 (GRCm39)	F12C	probably benign	Het
Nfxl1	A	T	5: 72,713,582 (GRCm39)	D120E	probably benign	Het
Nrg1	T	C	8: 32,314,587 (GRCm39)	Q142R	probably damaging	Het
Or10c1	A	G	17: 37,522,558 (GRCm39)	L62P	probably damaging	Het
Or1j18	T	G	2: 36,625,011 (GRCm39)	L226R	possibly damaging	Het
Or2h15	G	A	17: 38,441,432 (GRCm39)	S217F	probably damaging	Het
Or56a4	T	C	7: 104,806,355 (GRCm39)	N178S	probably damaging	Het
Or5k16	T	C	16: 58,736,435 (GRCm39)	T190A	probably benign	Het
Or8c10	C	A	9: 38,279,220 (GRCm39)	T116K	probably damaging	Het
Or8g30	C	A	9: 39,229,960 (GRCm39)	V317L	probably benign	Het
Or9s18	C	A	13: 65,300,743 (GRCm39)	A235D	possibly damaging	Het
Padi2	G	T	4: 140,659,432 (GRCm39)	V246L	probably benign	Het
Pgghg	C	T	7: 140,522,455 (GRCm39)	T63I	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,758 (GRCm39)	N1117S	probably benign	Het
Plch1	G	T	3: 63,630,202 (GRCm39)	T534K	probably damaging	Het
Poc1a	G	T	9: 106,227,012 (GRCm39)		probably benign	Het
Prph	A	T	15: 98,953,113 (GRCm39)		probably benign	Het
Ptprg	C	A	14: 12,037,387 (GRCm38)	T189K	possibly damaging	Het
R3hcc1	A	T	14: 69,941,463 (GRCm39)	I183N	probably damaging	Het
Rundc1	T	C	11: 101,316,363 (GRCm39)	L145P	probably benign	Het
Slc26a3	A	G	12: 31,520,964 (GRCm39)	K723E	possibly damaging	Het
Slc38a3	T	C	9: 107,536,390 (GRCm39)	E2G	possibly damaging	Het
Slc9a5	G	T	8: 106,082,490 (GRCm39)	V252L	probably benign	Het
Smim26	C	T	2: 144,437,043 (GRCm39)	T64M	probably benign	Het
Socs4	C	T	14: 47,527,589 (GRCm39)	R175*	probably null	Het
Srebf2	T	C	15: 82,066,251 (GRCm39)	S600P	probably damaging	Het
Tas2r107	A	T	6: 131,636,705 (GRCm39)	S115T	probably damaging	Het
Tenm2	T	C	11: 36,097,907 (GRCm39)	D447G	possibly damaging	Het
Thbs2	T	A	17: 14,896,591 (GRCm39)	D766V	probably damaging	Het
Tinagl1	A	G	4: 130,061,250 (GRCm39)	V300A	probably benign	Het
Tle6	T	A	10: 81,430,072 (GRCm39)	N332I	possibly damaging	Het
Tle6	C	A	10: 81,431,791 (GRCm39)	W151L	probably damaging	Het
Tnfrsf13c	C	T	15: 82,108,408 (GRCm39)	V36M	probably damaging	Het
Tns2	T	C	15: 102,016,295 (GRCm39)	I211T	possibly damaging	Het
Trp63	A	G	16: 25,701,344 (GRCm39)	N379D	probably damaging	Het
Trpc2	T	C	7: 101,738,316 (GRCm39)	W433R	probably damaging	Het
Tyw1	T	A	5: 130,305,927 (GRCm39)	L350Q	probably benign	Het
Usf3	T	C	16: 44,033,070 (GRCm39)	L76P	probably damaging	Het
Vmn2r79	T	C	7: 86,651,423 (GRCm39)	L274P	probably damaging	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
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'- TGCACAAATCCAGTCCTTCC -3'
(R):5'- TGGCAAGACCATGGACTACG -3'

Sequencing Primer
(F):5'- CTGGAAATTGAACCTGGGTCCTC -3'
(R):5'- ACCATGGACTACGCTGAGGTATC -3'

Posted On

2016-06-06