Mutagenetix > Incidental Mutation

Incidental Mutation 'R7494:Polr2f'

581010

Institutional Source

Beutler Lab

Gene Symbol

Polr2f

Ensembl Gene

ENSMUSG00000033020

Gene Name

polymerase (RNA) II (DNA directed) polypeptide F

Synonyms

RNA Pol II, 1810060D16Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7494 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

79025525-79035974 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 79028865 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000043566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040077] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000229973] [ENSMUST00000230271]

AlphaFold

P61219

Predicted Effect

probably null
Transcript: ENSMUST00000040077

SMART Domains

Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020

Domain	Start	End	E-Value	Type
low complexity region	3	37	N/A	INTRINSIC
Pfam:RNA_pol_Rpb6	51	104	2.7e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000169604

SMART Domains

Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	4	213	3.2e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186053

SMART Domains

Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	58	3.5e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186459

SMART Domains

Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	54	5e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000187550

SMART Domains

Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000188562

Predicted Effect

probably benign
Transcript: ENSMUST00000189761

SMART Domains

Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	39	4.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190400

Predicted Effect

probably benign
Transcript: ENSMUST00000190509

SMART Domains

Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	33	195	4.4e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190730

SMART Domains

Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	57	2.1e-22	PFAM
Pfam:UPF0193	54	155	8.3e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000190959

SMART Domains

Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029

Domain	Start	End	E-Value	Type
Pfam:UPF0193	1	216	1.5e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000229973

Predicted Effect

probably null
Transcript: ENSMUST00000230271

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	G	A	11: 110,099,571 (GRCm39)	T992I	possibly damaging	Het
Adamts10	T	A	17: 33,768,352 (GRCm39)	C841*	probably null	Het
AI661453	C	T	17: 47,779,105 (GRCm39)	P944S	unknown	Het
Als2	G	A	1: 59,222,325 (GRCm39)		probably null	Het
Anapc2	A	G	2: 25,166,376 (GRCm39)	E381G	possibly damaging	Het
Ank3	T	C	10: 69,824,756 (GRCm39)	Y1142H		Het
Apip	A	T	2: 102,922,896 (GRCm39)	N238I	probably benign	Het
Cblc	A	T	7: 19,526,737 (GRCm39)	V165D	possibly damaging	Het
Cep295nl	T	A	11: 118,224,758 (GRCm39)	M29L	probably benign	Het
Clec12a	A	G	6: 129,330,362 (GRCm39)	I47V	possibly damaging	Het
Dpp9	T	C	17: 56,507,619 (GRCm39)	Y350C	probably damaging	Het
Enpp2	C	T	15: 54,773,554 (GRCm39)	G56R	probably damaging	Het
Epsti1	G	T	14: 78,166,194 (GRCm39)	E82D	probably benign	Het
Eri2	C	A	7: 119,385,304 (GRCm39)	C399F	probably damaging	Het
Ern1	T	C	11: 106,298,361 (GRCm39)	T672A	probably damaging	Het
Fbxo21	T	A	5: 118,138,388 (GRCm39)	C445S	possibly damaging	Het
Folh1	G	T	7: 86,368,907 (GRCm39)	T740K	probably damaging	Het
Gapt	A	G	13: 110,490,262 (GRCm39)	Y134H	probably damaging	Het
Gm19410	T	C	8: 36,262,684 (GRCm39)	S874P	probably damaging	Het
Gm2431	G	A	7: 141,811,547 (GRCm39)	P119L	unknown	Het
Gzmc	G	A	14: 56,469,785 (GRCm39)	Q172*	probably null	Het
Hoxa1	C	A	6: 52,134,571 (GRCm39)	V211F	probably damaging	Het
Hyou1	G	T	9: 44,300,706 (GRCm39)	R925L	probably benign	Het
Ift70a1	A	C	2: 75,810,242 (GRCm39)	F614V	probably damaging	Het
Ilvbl	A	G	10: 78,414,857 (GRCm39)	Y240C	possibly damaging	Het
Lama1	T	A	17: 68,118,441 (GRCm39)	F2551Y		Het
Lrrtm3	A	G	10: 63,924,958 (GRCm39)	Y70H	probably damaging	Het
Naa38	T	A	11: 69,287,126 (GRCm39)	C69S	probably damaging	Het
Or12e7	T	A	2: 87,287,912 (GRCm39)	N134K	probably damaging	Het
Or2t46	T	C	11: 58,472,038 (GRCm39)	S123P	probably damaging	Het
Or8k25	A	T	2: 86,243,592 (GRCm39)	I268N	probably benign	Het
Panx3	A	G	9: 37,572,608 (GRCm39)	L314P	probably damaging	Het
Prkcd	C	A	14: 30,331,150 (GRCm39)	R75L	probably benign	Het
Psap	A	C	10: 60,135,275 (GRCm39)	L313F	probably benign	Het
Psen1	T	A	12: 83,775,017 (GRCm39)	C263S	probably benign	Het
Ptma	GGAAGAAG	GGAAGAAGAAG	1: 86,457,261 (GRCm39)		probably benign	Het
Pura	T	A	18: 36,420,942 (GRCm39)	M243K	probably damaging	Het
Sec16b	T	C	1: 157,388,369 (GRCm39)	S579P	probably benign	Het
Septin1	T	A	7: 126,814,122 (GRCm39)	E338V	probably damaging	Het
Sgms1	A	G	19: 32,107,091 (GRCm39)	F255L	probably benign	Het
Slc4a2	A	G	5: 24,637,862 (GRCm39)	T353A	possibly damaging	Het
Smg6	T	C	11: 74,820,449 (GRCm39)	V240A	probably benign	Het
Sntg2	T	G	12: 30,279,633 (GRCm39)	D340A	possibly damaging	Het
Sun1	C	T	5: 139,221,475 (GRCm39)	P553S	probably benign	Het
Tas2r140	T	C	6: 40,468,254 (GRCm39)	V28A	probably damaging	Het
Tfcp2l1	T	C	1: 118,592,686 (GRCm39)	F323S	probably damaging	Het
Thoc2l	T	C	5: 104,666,284 (GRCm39)	Y269H	possibly damaging	Het
Tpcn2	G	A	7: 144,832,586 (GRCm39)	T90I	possibly damaging	Het
Ttn	A	T	2: 76,720,321 (GRCm39)	Y6968*	probably null	Het
Vmn2r44	A	T	7: 8,386,122 (GRCm39)	L39*	probably null	Het

Other mutations in Polr2f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01013:Polr2f	APN	15	79,030,329 (GRCm39)	missense	probably damaging	1.00
R1727:Polr2f	UTSW	15	79,028,805 (GRCm39)	unclassified	probably benign
R3120:Polr2f	UTSW	15	79,028,788 (GRCm39)	splice site	probably null
R4724:Polr2f	UTSW	15	79,030,269 (GRCm39)	missense	probably benign	0.01
R5050:Polr2f	UTSW	15	79,028,862 (GRCm39)	unclassified	probably benign
R5139:Polr2f	UTSW	15	79,035,858 (GRCm39)	missense	possibly damaging	0.53
R5768:Polr2f	UTSW	15	79,035,845 (GRCm39)	missense	probably damaging	1.00
R5817:Polr2f	UTSW	15	79,035,869 (GRCm39)	missense	probably damaging	0.98
R6313:Polr2f	UTSW	15	79,035,573 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTCCTAGCAAACTGTGGGGAC -3'
(R):5'- ACCATACATAAGACGACACGATT -3'

Sequencing Primer
(F):5'- ACAGAGTGACCCTCCAGAGTTTG -3'
(R):5'- CGATTATCCCAAGACCTAGTTGAG -3'

Posted On

2019-10-17