Mutagenetix > Incidental Mutation

Incidental Mutation 'R4966:Polr1e'

383991

Institutional Source

Beutler Lab

Gene Symbol

Polr1e

Ensembl Gene

ENSMUSG00000028318

Gene Name

polymerase (RNA) I polypeptide E

Synonyms

53kDa, Praf1, Paf53, D030019D19Rik

MMRRC Submission

042562-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4966 (G1)

Quality Score

225

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: 99.0%
3x: 98.2%
10x: 95.8%
20x: 90.6%

Validation Efficiency

96% (94/98)

Allele List at MGI

Other mutations in this stock

Total: 85 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
Abcb5	T	A	12: 118,850,626 (GRCm39)		probably benign	Het
Acox3	A	G	5: 35,747,080 (GRCm39)	N166D	probably damaging	Het
Actn1	T	C	12: 80,219,904 (GRCm39)	I656V	probably benign	Het
Arhgef15	A	G	11: 68,838,143 (GRCm39)	V659A	probably benign	Het
AW551984	T	C	9: 39,508,472 (GRCm39)	E348G	possibly damaging	Het
Bbs2	A	T	8: 94,807,435 (GRCm39)	V453E	probably damaging	Het
Caskin1	A	T	17: 24,726,135 (GRCm39)	D1414V	probably damaging	Het
Ccdc57	A	T	11: 120,751,978 (GRCm39)	S868T	probably benign	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
Cyld	A	G	8: 89,468,929 (GRCm39)	I567V	possibly damaging	Het
Dact3	G	C	7: 16,620,013 (GRCm39)	V503L	unknown	Het
Dlg1	C	T	16: 31,573,626 (GRCm39)	T9I	probably benign	Het
Dnase1	T	C	16: 3,855,771 (GRCm39)		probably benign	Het
Drc7	G	A	8: 95,798,224 (GRCm39)	E490K	probably benign	Het
Drd4	T	C	7: 140,873,690 (GRCm39)	M114T	probably damaging	Het
Exoc3l4	A	G	12: 111,395,155 (GRCm39)	H591R	probably benign	Het
Fgfr1	C	A	8: 26,062,461 (GRCm39)	Y665*	probably null	Het
G2e3	A	G	12: 51,418,413 (GRCm39)	I603V	probably benign	Het
Glp2r	G	T	11: 67,648,419 (GRCm39)	Y94*	probably null	Het
Gnat1	A	T	9: 107,554,433 (GRCm39)	M115K	probably benign	Het
Gpr45	A	G	1: 43,072,280 (GRCm39)	T308A	probably benign	Het
Grm1	T	A	10: 10,595,409 (GRCm39)	K740*	probably null	Het
Gtsf2	T	C	15: 103,352,755 (GRCm39)	E88G	possibly damaging	Het
Hsh2d	C	T	8: 72,947,372 (GRCm39)	A23V	probably benign	Het
Ino80c	T	C	18: 24,239,702 (GRCm39)	D153G	probably damaging	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
Map4k1	A	T	7: 28,682,427 (GRCm39)	H16L	probably benign	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
Myf5	A	T	10: 107,321,733 (GRCm39)	C20*	probably null	Het
Myh11	T	C	16: 14,023,818 (GRCm39)	E1512G	probably damaging	Het
Myo5c	T	C	9: 75,176,878 (GRCm39)	S608P	probably benign	Het
Myo9a	A	G	9: 59,779,017 (GRCm39)	D1591G	probably benign	Het
Myof	T	A	19: 37,924,300 (GRCm39)	I1306F	probably damaging	Het
Nlgn1	C	T	3: 25,974,401 (GRCm39)	G165D	possibly damaging	Het
Noc2l	C	G	4: 156,330,368 (GRCm39)	D513E	probably damaging	Het
Nup205	G	A	6: 35,220,784 (GRCm39)	R1862H	probably benign	Het
Nup210l	A	G	3: 90,014,208 (GRCm39)	H65R	probably benign	Het
Or2y16	A	G	11: 49,334,945 (GRCm39)	D89G	possibly damaging	Het
Or9k7	A	T	10: 130,046,306 (GRCm39)	M231K	probably benign	Het
Pcmtd1	C	A	1: 7,231,233 (GRCm39)	Y176*	probably null	Het
Pde6h	C	T	6: 136,938,201 (GRCm39)	T58I	possibly damaging	Het
Pkd1	T	C	17: 24,805,042 (GRCm39)		probably null	Het
Rbm34	T	C	8: 127,678,087 (GRCm39)	D269G	possibly damaging	Het
Rdx	T	C	9: 51,986,309 (GRCm39)	V372A	probably benign	Het
Reep6	T	A	10: 80,169,633 (GRCm39)	F107Y	probably benign	Het
Rere	G	T	4: 150,698,273 (GRCm39)		probably benign	Het
Rmdn2	G	T	17: 79,974,304 (GRCm39)	A266S	probably damaging	Het
Rnf32	G	A	5: 29,403,576 (GRCm39)	R7H	probably benign	Het
Rnpepl1	A	T	1: 92,844,483 (GRCm39)	N325I	probably damaging	Het
Rps6ka5	T	A	12: 100,519,325 (GRCm39)	M763L	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
Serpina3j	T	A	12: 104,286,043 (GRCm39)	C399*	probably null	Het
Serpinb9	T	A	13: 33,192,847 (GRCm39)	W135R	probably damaging	Het
Sim2	T	C	16: 93,924,280 (GRCm39)	V475A	probably benign	Het
Slc24a5	G	A	2: 124,910,188 (GRCm39)	V30I	probably benign	Het
Snrnp25	A	G	11: 32,157,595 (GRCm39)	K58E	probably damaging	Het
Stx1b	T	C	7: 127,407,093 (GRCm39)	I55V	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
Tm2d3	A	G	7: 65,347,469 (GRCm39)	N101S	possibly damaging	Het
Tmem201	G	T	4: 149,803,144 (GRCm39)	Q575K	probably benign	Het
Tmem241	A	G	18: 12,237,176 (GRCm39)	S87P	probably damaging	Het
Trak2	G	A	1: 58,958,480 (GRCm39)	T267I	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
Ttk	T	A	9: 83,747,201 (GRCm39)	I680N	probably benign	Het
Ttn	T	C	2: 76,785,380 (GRCm39)	D665G	probably damaging	Het
Tulp4	G	A	17: 6,249,088 (GRCm39)	E36K	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
Vmn2r67	A	T	7: 84,785,593 (GRCm39)	V804E	probably damaging	Het
Wdr81	T	A	11: 75,336,775 (GRCm39)	Q1538L	probably benign	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
Zmat4	T	C	8: 24,392,085 (GRCm39)	S83P	probably damaging	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
R4964: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'- TGTCCCCATTTCCAGAACAGAAG -3'

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

Posted On

2016-04-27