Mutagenetix > Incidental Mutation

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

RPC5, Sin

MMRRC Submission

044488-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.967) question?

Stock #

R6334 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

120516967-120546655 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120527222 bp (GRCm39)

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]

AlphaFold

Q9CZT4

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: 58,770,940 (GRCm39)	S141T	probably benign	Het
Afap1l2	A	G	19: 56,906,408 (GRCm39)		probably null	Het
Aox1	C	T	1: 58,346,566 (GRCm39)	Q567*	probably null	Het
Aqp4	T	A	18: 15,526,648 (GRCm39)	M278L	probably benign	Het
Atp23	A	C	10: 126,723,538 (GRCm39)	L188R	probably benign	Het
Catsperg1	C	T	7: 28,905,782 (GRCm39)	G215D	probably benign	Het
Cavin4	T	C	4: 48,663,824 (GRCm39)	V68A	possibly damaging	Het
Ccl4	T	C	11: 83,553,504 (GRCm39)	S6P	unknown	Het
Cfap46	T	C	7: 139,260,747 (GRCm39)	E117G	probably damaging	Het
Cfhr4	A	G	1: 139,701,662 (GRCm39)		probably null	Het
Chek1	A	G	9: 36,625,788 (GRCm39)	S286P	possibly damaging	Het
Cntn4	G	A	6: 106,321,747 (GRCm39)	V35I	probably benign	Het
Cntn4	C	A	6: 106,483,153 (GRCm39)	P236Q	probably benign	Het
Cyp2d40	C	A	15: 82,645,753 (GRCm39)	G84V	probably benign	Het
Dnah12	A	T	14: 26,427,989 (GRCm39)	H205L	possibly damaging	Het
Dock1	G	A	7: 134,453,305 (GRCm39)	V845I	probably benign	Het
Drg1	T	C	11: 3,216,292 (GRCm39)	K7E	possibly damaging	Het
Eloa	G	A	4: 135,737,133 (GRCm39)	P488S	probably damaging	Het
Evi5	G	A	5: 107,968,387 (GRCm39)	R187*	probably null	Het
Fam53a	T	A	5: 33,758,219 (GRCm39)	L301F	probably damaging	Het
Fmnl3	T	C	15: 99,235,534 (GRCm39)	K63E	probably damaging	Het
Gast	C	A	11: 100,227,438 (GRCm39)	Q44K	probably benign	Het
Gng10	T	A	4: 59,035,257 (GRCm39)	V7E	probably benign	Het
Gtf3c5	G	A	2: 28,460,474 (GRCm39)	T375I	probably benign	Het
Haus5	C	T	7: 30,358,401 (GRCm39)	W298*	probably null	Het
Hspa14	A	T	2: 3,490,109 (GRCm39)		probably null	Het
Kcna3	T	C	3: 106,943,740 (GRCm39)	M1T	probably null	Het
Kcnj15	T	G	16: 95,097,095 (GRCm39)	L239R	probably damaging	Het
Klhl2	G	T	8: 65,212,842 (GRCm39)	D232E	probably benign	Het
Lamb3	A	T	1: 193,017,782 (GRCm39)	I888F	probably damaging	Het
Lars1	C	A	18: 42,350,551 (GRCm39)	M919I	probably benign	Het
Lfng	T	C	5: 140,598,522 (GRCm39)	V247A	possibly damaging	Het
Lrp1b	C	T	2: 41,679,045 (GRCm39)	A16T	probably benign	Het
Mamdc2	A	T	19: 23,341,270 (GRCm39)	I235N	probably damaging	Het
Map9	T	A	3: 82,290,612 (GRCm39)	L492Q	probably damaging	Het
Mcpt8	A	G	14: 56,322,604 (GRCm39)	V14A	possibly damaging	Het
Myo1b	T	C	1: 51,807,810 (GRCm39)	K823R	probably null	Het
Nbea	G	T	3: 55,944,570 (GRCm39)	T598K	probably damaging	Het
Nrcam	C	A	12: 44,619,083 (GRCm39)	H877N	probably benign	Het
Nrxn2	T	C	19: 6,581,322 (GRCm39)		probably null	Het
Nwd2	A	T	5: 63,957,596 (GRCm39)	I309F	possibly damaging	Het
Phyhd1	G	A	2: 30,164,736 (GRCm39)		probably null	Het
Pkp2	C	T	16: 16,043,933 (GRCm39)	T229I	probably damaging	Het
Plagl2	G	A	2: 153,074,611 (GRCm39)	P97S	probably benign	Het
Plekhh2	C	A	17: 84,874,294 (GRCm39)	N526K	probably benign	Het
Plin4	A	G	17: 56,410,261 (GRCm39)	L1217P	probably benign	Het
Postn	A	G	3: 54,292,703 (GRCm39)	K757E	probably benign	Het
Prpf39	T	A	12: 65,089,587 (GRCm39)		probably null	Het
Ptprg	C	T	14: 12,166,832 (GRCm38)	T745I	probably damaging	Het
Pxylp1	C	G	9: 96,707,307 (GRCm39)	A292P	probably damaging	Het
Rpl35	G	T	2: 38,891,754 (GRCm39)	D82E	possibly damaging	Het
Slc9a1	G	A	4: 133,149,519 (GRCm39)	V782I	possibly damaging	Het
Syn2	T	A	6: 115,240,875 (GRCm39)	M415K	possibly damaging	Het
Tmem117	A	C	15: 94,909,324 (GRCm39)	I246L	probably benign	Het
Tmem221	A	T	8: 72,011,428 (GRCm39)	V9E	probably damaging	Het
Trav13-5	A	G	14: 54,033,399 (GRCm39)	T103A	probably damaging	Het
Ubxn7	T	A	16: 32,191,007 (GRCm39)		probably null	Het
Vmn2r101	G	T	17: 19,810,112 (GRCm39)	M299I	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,344 (GRCm39)	S379T	probably damaging	Het
Vmn2r109	T	C	17: 20,761,440 (GRCm39)	N639S	probably benign	Het
Wdr26	T	C	1: 181,030,771 (GRCm39)			Het
Zfp109	T	A	7: 23,928,308 (GRCm39)	Y367F	probably damaging	Het
Zfp143	G	A	7: 109,685,338 (GRCm39)	C389Y	probably damaging	Het
Zfp553	G	T	7: 126,836,064 (GRCm39)		probably null	Het

Other mutations in Polr3e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Polr3e	APN	7	120,540,034 (GRCm39)	nonsense	probably null
IGL01664:Polr3e	APN	7	120,530,540 (GRCm39)	splice site	probably benign
IGL01980:Polr3e	APN	7	120,539,519 (GRCm39)	splice site	probably benign
IGL02027:Polr3e	APN	7	120,530,186 (GRCm39)	missense	probably damaging	1.00
IGL02208:Polr3e	APN	7	120,531,363 (GRCm39)	missense	probably damaging	0.99
IGL02549:Polr3e	APN	7	120,538,982 (GRCm39)	missense	probably damaging	1.00
IGL03338:Polr3e	APN	7	120,536,843 (GRCm39)	missense	probably benign	0.06
R1192:Polr3e	UTSW	7	120,532,531 (GRCm39)	missense	probably benign	0.03
R1328:Polr3e	UTSW	7	120,533,046 (GRCm39)	splice site	probably benign
R1435:Polr3e	UTSW	7	120,540,011 (GRCm39)	missense	probably benign	0.16
R1528:Polr3e	UTSW	7	120,539,820 (GRCm39)	missense	probably damaging	1.00
R1754:Polr3e	UTSW	7	120,538,521 (GRCm39)	critical splice donor site	probably null
R1924:Polr3e	UTSW	7	120,539,820 (GRCm39)	missense	probably damaging	1.00
R2169:Polr3e	UTSW	7	120,531,360 (GRCm39)	missense	probably damaging	1.00
R2201:Polr3e	UTSW	7	120,531,465 (GRCm39)	missense	probably benign
R2362:Polr3e	UTSW	7	120,541,787 (GRCm39)	missense	probably damaging	1.00
R2696:Polr3e	UTSW	7	120,532,600 (GRCm39)	missense	probably damaging	1.00
R4416:Polr3e	UTSW	7	120,538,280 (GRCm39)	critical splice donor site	probably null
R5278:Polr3e	UTSW	7	120,522,184 (GRCm39)	missense	possibly damaging	0.67
R5560:Polr3e	UTSW	7	120,522,172 (GRCm39)	missense	possibly damaging	0.83
R5689:Polr3e	UTSW	7	120,539,912 (GRCm39)	missense	possibly damaging	0.82
R5790:Polr3e	UTSW	7	120,527,190 (GRCm39)	missense	probably damaging	1.00
R6242:Polr3e	UTSW	7	120,539,690 (GRCm39)	missense	possibly damaging	0.62
R6317:Polr3e	UTSW	7	120,527,205 (GRCm39)	missense	possibly damaging	0.49
R6891:Polr3e	UTSW	7	120,543,873 (GRCm39)	missense	probably damaging	0.98
R7110:Polr3e	UTSW	7	120,539,510 (GRCm39)	splice site	probably null
R7771:Polr3e	UTSW	7	120,539,801 (GRCm39)	missense	probably benign
R7809:Polr3e	UTSW	7	120,523,449 (GRCm39)	missense	probably damaging	1.00
R8431:Polr3e	UTSW	7	120,530,528 (GRCm39)	missense	probably damaging	0.99
R8753:Polr3e	UTSW	7	120,539,540 (GRCm39)	missense	possibly damaging	0.55
R9038:Polr3e	UTSW	7	120,536,906 (GRCm39)	missense	possibly damaging	0.91
R9049:Polr3e	UTSW	7	120,538,462 (GRCm39)	missense	probably benign

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