Mutagenetix > Incidental Mutation

Incidental Mutation 'R4964:Polr1e'

383774

Institutional Source

Beutler Lab

Gene Symbol

Polr1e

Ensembl Gene

ENSMUSG00000028318

Gene Name

polymerase (RNA) I polypeptide E

Synonyms

53kDa, Praf1, Paf53, D030019D19Rik

MMRRC Submission

042561-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4964 (G1)

Quality Score

211

Status

Validated

Chromosome

Chromosomal Location

45018609-45034279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45029429 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 297 (A297T)

Ref Sequence

ENSEMBL: ENSMUSP00000121007 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029999] [ENSMUST00000052236] [ENSMUST00000107814] [ENSMUST00000133157]

AlphaFold

Q8K202

Predicted Effect

probably benign
Transcript: ENSMUST00000029999
AA Change: A345T

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: A345T

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	51	476	2.1e-98	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000052236

SMART Domains

Protein: ENSMUSP00000058233
Gene: ENSMUSG00000048232

Domain	Start	End	E-Value	Type
FBOX	6	48	1.92e-6	SMART
PbH1	198	217	8.34e3	SMART
PbH1	238	260	1.37e3	SMART
CASH	337	511	7.29e-6	SMART
PbH1	423	444	1.41e2	SMART
PbH1	467	489	1.33e3	SMART
PbH1	490	512	1.32e2	SMART
PbH1	513	535	8.34e3	SMART
PbH1	536	558	2.87e1	SMART
CASH	536	672	5.49e1	SMART
PbH1	559	581	1.25e1	SMART
PbH1	582	604	2.64e2	SMART
PbH1	605	627	6.05e3	SMART
PbH1	628	650	2.46e2	SMART
PbH1	651	673	2.14e2	SMART
CASH	681	804	6.58e1	SMART
PbH1	713	735	6.52e2	SMART
PbH1	736	758	5.92e2	SMART
PbH1	760	782	1.13e3	SMART
PbH1	783	805	1.86e2	SMART
PbH1	828	850	9.32e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000054723
AA Change: A269T

SMART Domains

Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318
AA Change: A269T

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	24	401	7.9e-104	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000107814
AA Change: A297T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: A297T

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	49	385	4.1e-105	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000133157
AA Change: A297T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: A297T

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_I_A49	49	431	1.4e-117	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140008

SMART Domains

Protein: ENSMUSP00000119862
Gene: ENSMUSG00000048232

Domain	Start	End	E-Value	Type
PbH1	25	44	8.34e3	SMART
PbH1	65	87	1.37e3	SMART
CASH	164	338	7.29e-6	SMART
PbH1	250	271	1.41e2	SMART
PbH1	294	316	1.33e3	SMART
PbH1	317	339	1.32e2	SMART
PbH1	340	362	8.34e3	SMART
PbH1	363	385	2.87e1	SMART
CASH	363	499	5.49e1	SMART
PbH1	386	408	1.25e1	SMART
PbH1	409	431	2.64e2	SMART
PbH1	432	454	6.05e3	SMART
PbH1	455	477	2.46e2	SMART
PbH1	478	500	2.14e2	SMART
CASH	508	631	6.58e1	SMART
PbH1	540	562	6.52e2	SMART
PbH1	563	585	5.92e2	SMART
PbH1	587	609	1.13e3	SMART
PbH1	610	632	1.86e2	SMART
PbH1	655	677	9.32e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150663

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153252

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

98% (100/102)

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,610,757 (GRCm39)		probably benign	Het
9030619P08Rik	T	A	15: 75,303,267 (GRCm39)		noncoding transcript	Het
A430033K04Rik	G	T	5: 138,645,119 (GRCm39)	E335*	probably null	Het
Abcb1b	A	T	5: 8,862,671 (GRCm39)	T118S	probably benign	Het
Abcb1b	T	A	5: 8,911,602 (GRCm39)	I133N	probably damaging	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Adam5	T	C	8: 25,276,248 (GRCm39)	Y473C	probably damaging	Het
Ankmy2	A	G	12: 36,236,917 (GRCm39)	K242E	possibly damaging	Het
Apc2	A	C	10: 80,149,841 (GRCm39)	I1603L	probably benign	Het
Arhgef25	T	A	10: 127,021,472 (GRCm39)	I249F	probably damaging	Het
Birc2	T	C	9: 7,860,553 (GRCm39)	H255R	probably benign	Het
Cables1	A	T	18: 12,074,334 (GRCm39)	R486W	possibly damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc175	A	G	12: 72,227,619 (GRCm39)	S55P	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	Het
Ccny	A	T	18: 9,449,516 (GRCm39)		probably null	Het
Cdc34b	A	T	11: 94,633,087 (GRCm39)	I96F	probably damaging	Het
Ctnnd1	A	G	2: 84,452,417 (GRCm39)	F69L	possibly damaging	Het
Cul9	C	T	17: 46,849,451 (GRCm39)	D565N	probably damaging	Het
Cxcl16	A	G	11: 70,346,519 (GRCm39)	V208A	probably benign	Het
Cyb5rl	A	G	4: 106,926,329 (GRCm39)		probably benign	Het
Ddx18	T	C	1: 121,493,823 (GRCm39)	K54E	probably benign	Het
Ddx60	G	A	8: 62,432,372 (GRCm39)	V885I	probably damaging	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Egfr	A	T	11: 16,858,949 (GRCm39)	D976V	probably damaging	Het
Eif2s1	T	A	12: 78,926,785 (GRCm39)	N178K	probably benign	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Galntl6	T	C	8: 59,152,945 (GRCm39)		probably benign	Het
Glipr1l2	T	A	10: 111,942,904 (GRCm39)	I253K	possibly damaging	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hormad1	T	A	3: 95,492,531 (GRCm39)		probably null	Het
Hydin	A	T	8: 111,217,305 (GRCm39)	I1398F	possibly damaging	Het
Ifnar1	T	C	16: 91,301,974 (GRCm39)	V483A	probably benign	Het
Ints11	T	C	4: 155,971,385 (GRCm39)	F278L	probably damaging	Het
Ints6	A	G	14: 62,939,911 (GRCm39)	L593P	probably damaging	Het
Krt7	C	T	15: 101,311,853 (GRCm39)	R104C	probably damaging	Het
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	Het
Mef2d	T	A	3: 88,075,404 (GRCm39)	I422N	probably damaging	Het
Mipep	G	T	14: 61,022,231 (GRCm39)	R32L	probably damaging	Het
Mon1a	A	G	9: 107,779,850 (GRCm39)	E473G	probably damaging	Het
Mterf2	T	A	10: 84,955,979 (GRCm39)	Q215L	probably damaging	Het
Mybpc1	T	A	10: 88,391,525 (GRCm39)	Y324F	probably benign	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo1g	A	T	11: 6,465,976 (GRCm39)	F370I	probably damaging	Het
Myo5c	T	A	9: 75,204,791 (GRCm39)	M1548K	possibly damaging	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nle1	A	G	11: 82,799,018 (GRCm39)	F21S	probably damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Or1e17	A	T	11: 73,832,028 (GRCm39)	I319F	probably benign	Het
Or2z2	A	G	11: 58,346,733 (GRCm39)	V14A	probably benign	Het
Orc1	T	C	4: 108,471,670 (GRCm39)	*841R	probably null	Het
Patz1	A	G	11: 3,257,720 (GRCm39)	D573G	probably damaging	Het
Pcdhga3	A	G	18: 37,809,154 (GRCm39)	T536A	probably benign	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pip5k1a	T	C	3: 94,978,094 (GRCm39)	I275V	probably benign	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Polrmt	A	G	10: 79,582,385 (GRCm39)	M1T	probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rnf122	T	A	8: 31,602,177 (GRCm39)	M1K	probably null	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Ryr2	T	C	13: 11,729,497 (GRCm39)	E2375G	possibly damaging	Het
Ryr2	T	C	13: 11,848,878 (GRCm39)	T361A	probably benign	Het
Serpina3m	T	C	12: 104,355,360 (GRCm39)	I9T	probably benign	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sf3b1	T	C	1: 55,038,871 (GRCm39)	N804S	probably benign	Het
Shroom1	A	G	11: 53,355,999 (GRCm39)	T350A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Slc38a8	A	T	8: 120,209,423 (GRCm39)		probably null	Het
Smarcd1	A	G	15: 99,605,862 (GRCm39)	S378G	possibly damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	probably damaging	Het
Sult2a8	A	G	7: 14,159,457 (GRCm39)	V54A	probably damaging	Het
Tacc2	T	C	7: 130,330,507 (GRCm39)	S264P	probably damaging	Het
Tbc1d4	A	T	14: 101,695,610 (GRCm39)	Y943N	probably damaging	Het
Tlr5	T	C	1: 182,801,038 (GRCm39)	I114T	probably benign	Het
Tmco6	T	C	18: 36,868,555 (GRCm39)		probably null	Het
Treh	T	C	9: 44,593,945 (GRCm39)	L144P	probably damaging	Het
Trmt2a	T	A	16: 18,067,418 (GRCm39)	C30*	probably null	Het
Ttbk2	A	T	2: 120,603,758 (GRCm39)	F258L	possibly damaging	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Unc93b1	T	C	19: 3,992,023 (GRCm39)		probably null	Het
Uroc1	T	C	6: 90,322,376 (GRCm39)	L300P	probably damaging	Het
Vps35l	T	C	7: 118,379,491 (GRCm39)	I426T	possibly damaging	Het
Xbp1	A	G	11: 5,471,125 (GRCm39)	E44G	probably damaging	Het
Zfp451	A	T	1: 33,816,942 (GRCm39)	V119D	probably damaging	Het
Zfp457	T	A	13: 67,441,342 (GRCm39)	H315L	probably damaging	Het
Zfp518a	T	A	19: 40,904,295 (GRCm39)	V1408D	possibly damaging	Het
Zfp52	T	G	17: 21,780,665 (GRCm39)	L171R	probably benign	Het
Zfp712	C	T	13: 67,188,676 (GRCm39)	C617Y	probably damaging	Het
Zfp770	T	C	2: 114,027,868 (GRCm39)	N67S	probably benign	Het

Other mutations in Polr1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Polr1e	APN	4	45,031,364 (GRCm39)	unclassified	probably benign
IGL01146:Polr1e	APN	4	45,031,369 (GRCm39)	missense	probably damaging	1.00
IGL01514:Polr1e	APN	4	45,018,723 (GRCm39)	missense	probably benign	0.00
IGL01533:Polr1e	APN	4	45,019,328 (GRCm39)	missense	probably damaging	1.00
R0207:Polr1e	UTSW	4	45,025,143 (GRCm39)	splice site	probably null
R0562:Polr1e	UTSW	4	45,029,421 (GRCm39)	missense	probably damaging	0.99
R0761:Polr1e	UTSW	4	45,027,392 (GRCm39)	missense	probably damaging	0.98
R1472:Polr1e	UTSW	4	45,028,026 (GRCm39)	missense	probably damaging	1.00
R1707:Polr1e	UTSW	4	45,027,469 (GRCm39)	missense	probably damaging	0.99
R2994:Polr1e	UTSW	4	45,027,473 (GRCm39)	critical splice donor site	probably null
R3054:Polr1e	UTSW	4	45,018,724 (GRCm39)	missense	possibly damaging	0.77
R4031:Polr1e	UTSW	4	45,018,685 (GRCm39)	missense	probably benign	0.02
R4195:Polr1e	UTSW	4	45,019,327 (GRCm39)	missense	probably damaging	1.00
R4771:Polr1e	UTSW	4	45,019,282 (GRCm39)	missense	probably damaging	1.00
R4806:Polr1e	UTSW	4	45,024,482 (GRCm39)	missense	probably benign
R4880:Polr1e	UTSW	4	45,022,280 (GRCm39)	missense	probably damaging	1.00
R4966:Polr1e	UTSW	4	45,029,429 (GRCm39)	missense	probably damaging	1.00
R5605:Polr1e	UTSW	4	45,018,723 (GRCm39)	missense	probably benign	0.00
R5934:Polr1e	UTSW	4	45,029,369 (GRCm39)	missense	probably damaging	0.99
R6358:Polr1e	UTSW	4	45,026,813 (GRCm39)	missense	probably damaging	1.00
R7241:Polr1e	UTSW	4	45,029,340 (GRCm39)	missense	probably damaging	1.00
R7436:Polr1e	UTSW	4	45,024,553 (GRCm39)	splice site	probably null
R8952:Polr1e	UTSW	4	45,018,727 (GRCm39)	missense	probably damaging	0.98
R9460:Polr1e	UTSW	4	45,018,691 (GRCm39)	missense	probably benign	0.25
R9709:Polr1e	UTSW	4	45,018,678 (GRCm39)	missense	probably benign
X0061:Polr1e	UTSW	4	45,029,436 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATACAGACAGTGTGCTGGGG -3'
(R):5'- GTCCCCATTTCCAGAACAGAAG -3'

Sequencing Primer
(F):5'- GAGGGGGTGTGGCTCCTC -3'
(R):5'- AAGAGAGCCCTGTGTGGCTC -3'

Posted On

2016-04-27