Mutagenetix > Incidental Mutations

Incidental Mutation 'R2362:Polr3e'

247184

Institutional Source

Beutler Lab

Gene Symbol

Polr3e

Ensembl Gene

ENSMUSG00000030880

Gene Name

polymerase (RNA) III (DNA directed) polypeptide E

Synonyms

Sin, RPC5

MMRRC Submission

040343-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.963) question?

Stock #

R2362 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120917744-120947432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 120942564 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 623 (D623E)

Ref Sequence

ENSEMBL: ENSMUSP00000146970 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033173] [ENSMUST00000106483] [ENSMUST00000207481]

AlphaFold

Q9CZT4

Predicted Effect

probably damaging
Transcript: ENSMUST00000033173
AA Change: D649E

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

SMART Domains

Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: D649E

Domain	Start	End	E-Value	Type
Pfam:Sin_N	5	432	7.1e-161	PFAM
coiled coil region	458	491	N/A	INTRINSIC
low complexity region	504	518	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000106483
AA Change: D649E

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

SMART Domains

Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: D649E

Domain	Start	End	E-Value	Type
Pfam:Sin_N	4	29	2.8e-10	PFAM
Pfam:Sin_N	29	408	6.9e-141	PFAM
coiled coil region	432	465	N/A	INTRINSIC
low complexity region	478	492	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000207481
AA Change: D623E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209014

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 94.9%

Validation Efficiency

100% (35/35)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630073D07Rik	A	T	6: 132,627,479	M1K	probably null	Het
Aadat	A	G	8: 60,532,298		probably benign	Het
Acsm5	T	C	7: 119,528,426		probably benign	Het
Avl9	A	T	6: 56,736,570	N271I	probably benign	Het
Ccdc30	T	A	4: 119,324,056	N636I	probably damaging	Het
Cdr2	T	G	7: 120,970,331	I62L	possibly damaging	Het
Clk3	T	C	9: 57,754,619	I382V	possibly damaging	Het
Ctsr	T	A	13: 61,162,796	E45V	probably damaging	Het
Cyp2b19	A	G	7: 26,764,377	Y318C	probably damaging	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dapk1	A	G	13: 60,730,931	N578S	probably damaging	Het
Dlg5	A	T	14: 24,158,687	M817K	probably benign	Het
Dtx4	A	G	19: 12,492,535	V76A	probably damaging	Het
Eps15	T	C	4: 109,361,230	V430A	probably benign	Het
Fam160b2	A	G	14: 70,586,365	Y568H	probably benign	Het
Fxyd5	T	C	7: 31,036,471	N104S	probably benign	Het
Gm5155	T	G	7: 17,902,473		noncoding transcript	Het
Ift122	A	G	6: 115,884,350	D193G	probably damaging	Het
Lrrcc1	A	G	3: 14,563,024	E542G	probably damaging	Het
Macc1	T	C	12: 119,447,658		probably benign	Het
Ndst3	T	A	3: 123,552,678	Y234F	possibly damaging	Het
Olfr1477	A	T	19: 13,502,508	H55L	probably damaging	Het
Pes1	T	C	11: 3,977,123	F429S	probably damaging	Het
Rapgef6	T	C	11: 54,694,272	Y1494H	probably damaging	Het
Rbm14	T	C	19: 4,801,707		probably benign	Het
Rnf103	A	G	6: 71,510,017	D544G	probably benign	Het
Slc10a7	A	G	8: 78,509,632	I20V	probably damaging	Het
Sort1	C	T	3: 108,346,665	T549I	possibly damaging	Het
Stambpl1	G	A	19: 34,236,354	V328I	probably benign	Het
Thbd	A	G	2: 148,406,364	L528P	probably damaging	Het
Wbp11	A	T	6: 136,824,332	M63K	probably damaging	Het
Wdr11	T	A	7: 129,634,836	I1178N	probably benign	Het

Other mutations in Polr3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Polr3e	APN	7	120940811	nonsense	probably null
IGL01664:Polr3e	APN	7	120931317	splice site	probably benign
IGL01980:Polr3e	APN	7	120940296	splice site	probably benign
IGL02027:Polr3e	APN	7	120930963	missense	probably damaging	1.00
IGL02208:Polr3e	APN	7	120932140	missense	probably damaging	0.99
IGL02549:Polr3e	APN	7	120939759	missense	probably damaging	1.00
IGL03338:Polr3e	APN	7	120937620	missense	probably benign	0.06
R1192:Polr3e	UTSW	7	120933308	missense	probably benign	0.03
R1328:Polr3e	UTSW	7	120933823	splice site	probably benign
R1435:Polr3e	UTSW	7	120940788	missense	probably benign	0.16
R1528:Polr3e	UTSW	7	120940597	missense	probably damaging	1.00
R1754:Polr3e	UTSW	7	120939298	critical splice donor site	probably null
R1924:Polr3e	UTSW	7	120940597	missense	probably damaging	1.00
R2169:Polr3e	UTSW	7	120932137	missense	probably damaging	1.00
R2201:Polr3e	UTSW	7	120932242	missense	probably benign
R2696:Polr3e	UTSW	7	120933377	missense	probably damaging	1.00
R4416:Polr3e	UTSW	7	120939057	critical splice donor site	probably null
R5278:Polr3e	UTSW	7	120922961	missense	possibly damaging	0.67
R5560:Polr3e	UTSW	7	120922949	missense	possibly damaging	0.83
R5689:Polr3e	UTSW	7	120940689	missense	possibly damaging	0.82
R5790:Polr3e	UTSW	7	120927967	missense	probably damaging	1.00
R6242:Polr3e	UTSW	7	120940467	missense	possibly damaging	0.62
R6317:Polr3e	UTSW	7	120927982	missense	possibly damaging	0.49
R6334:Polr3e	UTSW	7	120927999	missense	possibly damaging	0.87
R6891:Polr3e	UTSW	7	120944650	missense	probably damaging	0.98
R7110:Polr3e	UTSW	7	120940287	splice site	probably null
R7771:Polr3e	UTSW	7	120940578	missense	probably benign
R7809:Polr3e	UTSW	7	120924226	missense	probably damaging	1.00
R8431:Polr3e	UTSW	7	120931305	missense	probably damaging	0.99
R8753:Polr3e	UTSW	7	120940317	missense	possibly damaging	0.55
R9038:Polr3e	UTSW	7	120937683	missense	possibly damaging	0.91
R9049:Polr3e	UTSW	7	120939239	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- ATTGCAGATTCCTCAGAGCC -3'
(R):5'- ATAGCGAGGCCACCATACTC -3'

Sequencing Primer
(F):5'- ATTCCTCAGAGCCAGTGAGTG -3'
(R):5'- CAAAGGTGATTCTGTGCTAATTTGGC -3'

Posted On

2014-10-30