Mutagenetix > Incidental Mutation

Incidental Mutation 'R4416:Polr3e'

326842

Institutional Source

Beutler Lab

Gene Symbol

Polr3e

Ensembl Gene

ENSMUSG00000030880

Gene Name

polymerase (RNA) III (DNA directed) polypeptide E

Synonyms

Sin, RPC5

MMRRC Submission

041137-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R4416 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

120917744-120947432 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 120939057 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000146970 (fasta)

Gene Model

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

AlphaFold

Q9CZT4

Predicted Effect

probably null
Transcript: ENSMUST00000033173

SMART Domains

Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880

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 null
Transcript: ENSMUST00000106483

SMART Domains

Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880

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 null
Transcript: ENSMUST00000106483

SMART Domains

Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880

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 null
Transcript: ENSMUST00000207481

Predicted Effect

probably null
Transcript: ENSMUST00000207481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209014

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,505,574	T183A	possibly damaging	Het
4933412E24Rik	T	A	15: 60,016,423	E56V	possibly damaging	Het
Adam28	A	G	14: 68,622,082		probably null	Het
Bnc1	G	T	7: 81,968,960	H786N	probably benign	Het
Cav1	T	A	6: 17,339,249	M100K	probably benign	Het
Cdk9	A	G	2: 32,708,072	L273P	probably damaging	Het
Celsr1	A	G	15: 85,927,999	V2065A	probably damaging	Het
Cyp2c54	T	C	19: 40,038,259	Q484R	probably benign	Het
Elfn1	T	C	5: 139,972,194	S318P	possibly damaging	Het
Fam160b1	G	T	19: 57,385,397		probably null	Het
Fbxl6	T	C	15: 76,537,724	E205G	possibly damaging	Het
Frmd6	T	A	12: 70,877,249	Y94N	probably benign	Het
Gdpd1	A	T	11: 87,035,288	V277D	probably benign	Het
Gm1141	G	A	X: 71,939,619	C399Y	possibly damaging	Het
Grik1	C	A	16: 88,051,461	V140L	probably benign	Het
Grpel1	A	G	5: 36,471,272	H175R	probably damaging	Het
Gtdc1	G	T	2: 44,575,590		probably null	Het
Hivep2	A	T	10: 14,129,170	Q504L	probably benign	Het
Icos	A	T	1: 60,994,690	I160L	probably benign	Het
Igsf9b	G	T	9: 27,322,917	C442F	probably damaging	Het
Itga10	T	C	3: 96,658,246	V1062A	possibly damaging	Het
Lrp1b	C	T	2: 40,663,667	V386I	unknown	Het
Lrp2	G	T	2: 69,527,231	F409L	probably benign	Het
Nadk	T	G	4: 155,587,726	Y291*	probably null	Het
Nudt6	A	T	3: 37,405,229		probably null	Het
Oit3	T	C	10: 59,428,103	Y403C	probably damaging	Het
Olfr694	G	A	7: 106,689,011	T240I	probably benign	Het
Olfr814	T	C	10: 129,873,957	T267A	probably benign	Het
Olfr974	A	G	9: 39,942,428	H56R	probably damaging	Het
Pds5b	C	T	5: 150,736,396	P275S	probably damaging	Het
Pdzd7	T	A	19: 45,040,580	E117V	probably damaging	Het
Pik3ca	T	C	3: 32,461,530	V784A	probably damaging	Het
Rab3gap2	A	T	1: 185,282,347	D1231V	probably benign	Het
Rapgef2	C	A	3: 79,069,057	G1481*	probably null	Het
Rho	G	A	6: 115,935,230	V76I	probably benign	Het
Rrm1	A	G	7: 102,447,801	D96G	probably benign	Het
Slc35b2	G	A	17: 45,566,429	V161M	probably benign	Het
Srp9	A	T	1: 182,131,411	M50L	probably benign	Het
Stox1	T	C	10: 62,659,569	N975S	probably benign	Het
Sult1d1	A	G	5: 87,558,576	F169S	probably damaging	Het
Tmem63c	C	G	12: 87,081,902	T567R	probably benign	Het
Tmf1	G	T	6: 97,178,988	F12L	probably damaging	Het
Ush2a	T	C	1: 188,356,874	I342T	probably damaging	Het
Veph1	A	T	3: 66,061,185	N712K	probably damaging	Het
Vti1a	T	G	19: 55,380,948	S91A	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
R2362:Polr3e	UTSW	7	120942564	missense	probably damaging	1.00
R2696:Polr3e	UTSW	7	120933377	missense	probably damaging	1.00
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'- AAAGGCTGAAGGTGTCTCAG -3'
(R):5'- TTGATAAACTCCAGGTCGTAAGGC -3'

Sequencing Primer
(F):5'- TCTCAGGTGTAGAGGCTACCCAAG -3'
(R):5'- CAGTAAGAACTCCCAGCCTTTGTTG -3'

Posted On

2015-07-07