Mutagenetix > Incidental Mutations

Incidental Mutation 'R4195:Polr1e'

318528

Institutional Source

Beutler Lab

Gene Symbol

Polr1e

Ensembl Gene

ENSMUSG00000028318

Gene Name

polymerase (RNA) I polypeptide E

Synonyms

53kDa, D030019D19Rik, Paf53, Praf1

MMRRC Submission

041026-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4195 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45018583-45036565 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45019327 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 59 (Y59H)

Ref Sequence

ENSEMBL: ENSMUSP00000121007 (fasta)

Gene Model

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

AlphaFold

Q8K202

Predicted Effect

probably damaging
Transcript: ENSMUST00000029999
AA Change: Y59H

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

SMART Domains

Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: Y59H

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

Predicted Effect

unknown
Transcript: ENSMUST00000054723
AA Change: Y31H

SMART Domains

Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318
AA Change: Y31H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000095105

Predicted Effect

probably damaging
Transcript: ENSMUST00000107814
AA Change: Y59H

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

SMART Domains

Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: Y59H

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: Y59H

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

SMART Domains

Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: Y59H

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149284

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186030

Meta Mutation Damage Score

0.5226

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.8%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	G	1: 127,749,194	L152R	probably damaging	Het
Actg2	T	G	6: 83,523,173	T39P	probably damaging	Het
Agap1	A	G	1: 89,834,539	E531G	probably damaging	Het
Alox12b	A	G	11: 69,169,600	S661G	probably benign	Het
Apod	T	C	16: 31,297,574	M113V	probably benign	Het
Atl3	A	G	19: 7,518,546	I171V	possibly damaging	Het
Atrn	C	A	2: 130,933,412	T145K	probably damaging	Het
Cacna1f	A	G	X: 7,608,930	H57R	probably damaging	Het
Cldn9	T	C	17: 23,683,174	E159G	probably damaging	Het
Cnnm4	C	A	1: 36,499,508	H590Q	probably benign	Het
Col19a1	G	A	1: 24,534,052	S213L	unknown	Het
Cse1l	A	G	2: 166,929,979	T387A	probably damaging	Het
Eif4enif1	T	C	11: 3,243,186	V675A	possibly damaging	Het
Fbll1	A	G	11: 35,797,666	S257P	possibly damaging	Het
Fbll1	T	A	11: 35,797,872	H188L	possibly damaging	Het
Frem2	A	G	3: 53,539,268	F2360L	possibly damaging	Het
G3bp2	A	G	5: 92,055,416	S349P	probably damaging	Het
Gm2396	A	G	9: 88,917,662		noncoding transcript	Het
Gm281	C	A	14: 13,829,772	V657L	probably benign	Het
Gm6569	C	T	15: 73,836,243	P22L	probably damaging	Het
Itih2	T	C	2: 10,115,285	N314D	probably damaging	Het
Lman2l	A	C	1: 36,424,941	I266M	probably damaging	Het
Mrps9	T	G	1: 42,901,094		probably benign	Het
Mtmr11	T	C	3: 96,167,891		probably benign	Het
Neb	G	T	2: 52,271,559	R2074S	probably damaging	Het
Neb	A	T	2: 52,290,835	H1226Q	probably damaging	Het
Nmi	A	C	2: 51,948,620	S301A	probably benign	Het
Olfr266	A	T	3: 106,822,012	C182*	probably null	Het
Pclo	A	G	5: 14,677,563		probably benign	Het
Pkd1l1	T	A	11: 8,909,929	I560F	probably damaging	Het
Slc30a4	G	A	2: 122,685,270	T401M	probably damaging	Het
Tas1r3	T	C	4: 155,862,985	E81G	probably damaging	Het
Zfp990	A	T	4: 145,536,977		probably null	Het
Zzz3	A	G	3: 152,428,465	T387A	probably benign	Het

Other mutations in Polr1e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00973:Polr1e	APN	4	45031364	unclassified	probably benign
IGL01146:Polr1e	APN	4	45031369	missense	probably damaging	1.00
IGL01514:Polr1e	APN	4	45018723	missense	probably benign	0.00
IGL01533:Polr1e	APN	4	45019328	missense	probably damaging	1.00
R0207:Polr1e	UTSW	4	45025143	splice site	probably null
R0562:Polr1e	UTSW	4	45029421	missense	probably damaging	0.99
R0761:Polr1e	UTSW	4	45027392	missense	probably damaging	0.98
R1472:Polr1e	UTSW	4	45028026	missense	probably damaging	1.00
R1707:Polr1e	UTSW	4	45027469	missense	probably damaging	0.99
R2994:Polr1e	UTSW	4	45027473	critical splice donor site	probably null
R3054:Polr1e	UTSW	4	45018724	missense	possibly damaging	0.77
R4031:Polr1e	UTSW	4	45018685	missense	probably benign	0.02
R4771:Polr1e	UTSW	4	45019282	missense	probably damaging	1.00
R4806:Polr1e	UTSW	4	45024482	missense	probably benign
R4880:Polr1e	UTSW	4	45022280	missense	probably damaging	1.00
R4964:Polr1e	UTSW	4	45029429	missense	probably damaging	1.00
R4966:Polr1e	UTSW	4	45029429	missense	probably damaging	1.00
R5605:Polr1e	UTSW	4	45018723	missense	probably benign	0.00
R5934:Polr1e	UTSW	4	45029369	missense	probably damaging	0.99
R6358:Polr1e	UTSW	4	45026813	missense	probably damaging	1.00
R7241:Polr1e	UTSW	4	45029340	missense	probably damaging	1.00
R7436:Polr1e	UTSW	4	45024553	splice site	probably null
R8952:Polr1e	UTSW	4	45018727	missense	probably damaging	0.98
X0061:Polr1e	UTSW	4	45029436	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTGGACCAGGGCTTTCTTC -3'
(R):5'- CCAAAATCTTGCTCCTCAGTGG -3'

Sequencing Primer
(F):5'- GGACCAGGGCTTTCTTCATACC -3'
(R):5'- GGGCCAGAGTCTCATTTGCTAC -3'

Posted On

2015-06-10