Mutagenetix > Incidental Mutation

Incidental Mutation 'R5605:Polr1e'

439237

Institutional Source

Beutler Lab

Gene Symbol

Polr1e

Ensembl Gene

ENSMUSG00000028318

Gene Name

polymerase (RNA) I polypeptide E

Synonyms

53kDa, Praf1, Paf53, D030019D19Rik

MMRRC Submission

043270-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5605 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45018609-45034279 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45018723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

Ref Sequence

ENSEMBL: ENSMUSP00000121007 (fasta)

Gene Model

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

AlphaFold

Q8K202

Predicted Effect

probably benign
Transcript: ENSMUST00000029999
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000029999
Gene: ENSMUSG00000028318
AA Change: T18A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000054723

SMART Domains

Protein: ENSMUSP00000059941
Gene: ENSMUSG00000028318

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 benign
Transcript: ENSMUST00000107814
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103444
Gene: ENSMUSG00000028318
AA Change: T18A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000133157
AA Change: T18A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000121007
Gene: ENSMUSG00000028318
AA Change: T18A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg3l2	C	A	18: 67,575,425 (GRCm39)	G83*	probably null	Het
Arap2	A	T	5: 62,772,410 (GRCm39)	M1476K	possibly damaging	Het
Catsper2	G	A	2: 121,227,533 (GRCm39)	R546C	possibly damaging	Het
Ceacam5	T	C	7: 17,481,161 (GRCm39)	F303L	probably benign	Het
Clvs1	A	G	4: 9,281,751 (GRCm39)	D65G	probably damaging	Het
Coq5	T	C	5: 115,421,776 (GRCm39)		probably null	Het
D630045J12Rik	A	T	6: 38,168,699 (GRCm39)	V950E	probably damaging	Het
Dennd4b	G	A	3: 90,175,675 (GRCm39)	R148Q	probably damaging	Het
Dnah7c	A	G	1: 46,837,395 (GRCm39)	D3936G	possibly damaging	Het
Doc2b	T	C	11: 75,662,786 (GRCm39)	E404G	probably damaging	Het
Dsg1b	C	T	18: 20,532,596 (GRCm39)	P547S	probably benign	Het
Eif1ad17	T	A	12: 87,978,768 (GRCm39)	C51S	probably damaging	Het
Erich6	A	G	3: 58,532,540 (GRCm39)	Y356H	probably damaging	Het
Galnt6	C	T	15: 100,595,106 (GRCm39)	R465Q	probably damaging	Het
Gbp5	T	C	3: 142,207,037 (GRCm39)	S69P	probably damaging	Het
Gdpd4	T	C	7: 97,655,507 (GRCm39)	V562A	probably benign	Het
Greb1	A	T	12: 16,758,727 (GRCm39)	V663D	probably damaging	Het
Gtf3c3	A	T	1: 54,455,085 (GRCm39)	S593T	probably benign	Het
H2-Eb1	T	C	17: 34,528,807 (GRCm39)	S113P	probably benign	Het
Herc3	C	T	6: 58,834,712 (GRCm39)	R240C	probably damaging	Het
Iqub	T	C	6: 24,505,620 (GRCm39)	D96G	probably benign	Het
Irag1	C	T	7: 110,545,209 (GRCm39)	C29Y	possibly damaging	Het
Kcnt2	A	T	1: 140,502,481 (GRCm39)	E858D	possibly damaging	Het
Lcor	T	A	19: 41,571,302 (GRCm39)	I165N	probably damaging	Het
Lrp2	C	T	2: 69,353,643 (GRCm39)	R539K	probably damaging	Het
Lrrc10	C	A	10: 116,881,805 (GRCm39)	P160T	probably damaging	Het
Map3k12	G	T	15: 102,412,300 (GRCm39)	D280E	probably benign	Het
Mcub	T	C	3: 129,710,658 (GRCm39)	E258G	probably damaging	Het
Mdn1	T	C	4: 32,765,664 (GRCm39)	S5208P	probably benign	Het
Med20	C	A	17: 47,934,069 (GRCm39)		probably benign	Het
Mertk	T	C	2: 128,580,227 (GRCm39)	V227A	probably benign	Het
Ncstn	A	G	1: 171,908,717 (GRCm39)		probably benign	Het
Nedd4l	T	C	18: 65,307,315 (GRCm39)		probably null	Het
Nfyc	A	G	4: 120,647,686 (GRCm39)		probably benign	Het
Npdc1	G	A	2: 25,298,957 (GRCm39)	D284N	probably damaging	Het
Nt5dc1	C	T	10: 34,279,691 (GRCm39)	C117Y	probably benign	Het
Nup88	A	T	11: 70,834,896 (GRCm39)		probably benign	Het
Or6z7	C	T	7: 6,483,325 (GRCm39)	V277M	probably benign	Het
Pbrm1	T	A	14: 30,757,949 (GRCm39)	I193K	probably benign	Het
Pcsk2	T	C	2: 143,591,165 (GRCm39)		probably benign	Het
Pdzd2	A	T	15: 12,592,436 (GRCm39)	C69*	probably null	Het
Prima1	T	A	12: 103,166,163 (GRCm39)	I124F	probably benign	Het
Rbm34	T	C	8: 127,676,169 (GRCm39)	K382R	probably benign	Het
Rftn1	T	G	17: 50,354,435 (GRCm39)	N309T	probably damaging	Het
Septin1	C	T	7: 126,814,598 (GRCm39)	D260N	probably damaging	Het
Serpina3g	T	C	12: 104,207,299 (GRCm39)	V154A	probably damaging	Het
Spef2	A	T	15: 9,609,606 (GRCm39)	N1306K	probably damaging	Het
Stk4	T	C	2: 163,921,486 (GRCm39)	F29S	probably damaging	Het
Stxbp5	A	G	10: 9,645,490 (GRCm39)		probably benign	Het
Tbl3	T	C	17: 24,919,733 (GRCm39)	T774A	probably benign	Het
Tinag	A	G	9: 76,952,694 (GRCm39)	Y97H	probably damaging	Het
Tpm1	T	C	9: 66,956,317 (GRCm39)	E33G	probably damaging	Het
Usp17lb	T	C	7: 104,489,847 (GRCm39)	E359G	probably benign	Het
Vmn2r91	A	G	17: 18,356,763 (GRCm39)	E810G	probably damaging	Het
Vwce	A	T	19: 10,635,402 (GRCm39)	T633S	possibly damaging	Het
Ylpm1	G	A	12: 85,075,627 (GRCm39)	R326H	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
R4966:Polr1e	UTSW	4	45,029,429 (GRCm39)	missense	probably damaging	1.00
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'- GGAGTTACTGCATCCTCCTG -3'
(R):5'- GTCCGAAGTGGTGACGATAG -3'

Sequencing Primer
(F):5'- AGGGTGTGATCCTCAAGGG -3'
(R):5'- TCCGAAGTGGTGACGATAGATGAATG -3'

Posted On

2016-10-26