Mutagenetix > Incidental Mutations

Incidental Mutation 'R6334:Polr3e'

510705

Institutional Source

Beutler Lab

Gene Symbol

Polr3e

Ensembl Gene

ENSMUSG00000030880

Gene Name

polymerase (RNA) III (DNA directed) polypeptide E

Synonyms

Sin, RPC5

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120917744-120947432 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120927999 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 67 (S67P)

Ref Sequence

ENSEMBL: ENSMUSP00000146970 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000033173
AA Change: S93P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000033173
Gene: ENSMUSG00000030880
AA Change: S93P

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

possibly damaging
Transcript: ENSMUST00000106483
AA Change: S93P

PolyPhen 2 Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102092
Gene: ENSMUSG00000030880
AA Change: S93P

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

possibly damaging
Transcript: ENSMUST00000207481
AA Change: S67P

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	T	A	11: 58,880,114	S141T	probably benign	Het
Afap1l2	A	G	19: 56,917,976		probably null	Het
Aox2	C	T	1: 58,307,407	Q567*	probably null	Het
Aqp4	T	A	18: 15,393,591	M278L	probably benign	Het
Atp23	A	C	10: 126,887,669	L188R	probably benign	Het
B230359F08Rik	A	G	14: 53,795,942	T103A	probably damaging	Het
Catsperg1	C	T	7: 29,206,357	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,662,678	S6P	unknown	Het
Cfap46	T	C	7: 139,680,831	E117G	probably damaging	Het
Chek1	A	G	9: 36,714,492	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,344,786	V35I	probably benign	Het
Cntn4	C	A	6: 106,506,192	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,761,552	G84V	probably benign	Het
Dnah12	A	T	14: 26,706,834	H205L	possibly damaging	Het
Dock1	G	A	7: 134,851,576	V845I	probably benign	Het
Drg1	T	C	11: 3,266,292	K7E	possibly damaging	Het
Eloa	G	A	4: 136,009,822	P488S	probably damaging	Het
Evi5	G	A	5: 107,820,521	R187*	probably null	Het
Fam53a	T	A	5: 33,600,875	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,337,653	K63E	probably damaging	Het
Gast	C	A	11: 100,336,612	Q44K	probably benign	Het
Gm4788	A	G	1: 139,773,924		probably null	Het
Gng10	T	A	4: 59,035,257	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,570,462	T375I	probably benign	Het
Haus5	C	T	7: 30,658,976	W298*	probably null	Het
Hspa14	A	T	2: 3,489,072		probably null	Het
Kcna3	T	C	3: 107,036,424	M1T	probably null	Het
Kcnj15	T	G	16: 95,296,236	L239R	probably damaging	Het
Klhl2	G	T	8: 64,759,808	D232E	probably benign	Het
Lamb3	A	T	1: 193,335,474	I888F	probably damaging	Het
Lars	C	A	18: 42,217,486	M919I	probably benign	Het
Lfng	T	C	5: 140,612,767	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,789,033	A16T	probably benign	Het
Mamdc2	A	T	19: 23,363,906	I235N	probably damaging	Het
Map9	T	A	3: 82,383,305	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,085,147	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,768,651	K823R	probably null	Het
Nbea	G	T	3: 56,037,149	T598K	probably damaging	Het
Nrcam	C	A	12: 44,572,300	H877N	probably benign	Het
Nrxn2	T	C	19: 6,531,292		probably null	Het
Nwd2	A	T	5: 63,800,253	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,274,724		probably null	Het
Pkp2	C	T	16: 16,226,069	T229I	probably damaging	Het
Plagl2	G	A	2: 153,232,691	P97S	probably benign	Het
Plekhh2	C	A	17: 84,566,866	N526K	probably benign	Het
Plin4	A	G	17: 56,103,261	L1217P	probably benign	Het
Postn	A	G	3: 54,385,282	K757E	probably benign	Het
Prpf39	T	A	12: 65,042,813		probably null	Het
Ptprg	C	T	14: 12,166,832	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,825,254	A292P	probably damaging	Het
Rpl35	G	T	2: 39,001,742	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,422,208	V782I	possibly damaging	Het
Syn2	T	A	6: 115,263,914	M415K	possibly damaging	Het
Tmem117	A	C	15: 95,011,443	I246L	probably benign	Het
Tmem221	A	T	8: 71,558,784	V9E	probably damaging	Het
Ubxn7	T	A	16: 32,372,189		probably null	Het
Vmn2r101	G	T	17: 19,589,850	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 19,794,082	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,541,178	N639S	probably benign	Het
Wdr26	T	C	1: 181,203,206			Het
Zfp109	T	A	7: 24,228,883	Y367F	probably damaging	Het
Zfp143	G	A	7: 110,086,131	C389Y	probably damaging	Het
Zfp553	G	T	7: 127,236,892		probably null	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
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
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

Predicted Primers

PCR Primer
(F):5'- CATTGGGAAGGACACTGGTC -3'
(R):5'- CTGGGATAAGCCAACGTAGG -3'

Sequencing Primer
(F):5'- AAGGACACTGGTCACTCTTG -3'
(R):5'- GAGGGAAGGCCAACAACACTC -3'

Posted On

2018-04-02