Mutagenetix > Incidental Mutation

Incidental Mutation 'R5050:Polr2f'

394614

Institutional Source

Beutler Lab

Gene Symbol

Polr2f

Ensembl Gene

ENSMUSG00000033020

Gene Name

polymerase (RNA) II (DNA directed) polypeptide F

Synonyms

RNA Pol II, 1810060D16Rik

MMRRC Submission

042640-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5050 (G1)

Quality Score

210

Status

Validated

Chromosome

Chromosomal Location

79025525-79035974 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 79028862 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140347 (fasta)

Gene Model

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

AlphaFold

P61219

Predicted Effect

unknown
Transcript: ENSMUST00000040077
AA Change: E30G

SMART Domains

Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
AA Change: E30G

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

unknown
Transcript: ENSMUST00000230271
AA Change: E30G

Predicted Effect

unknown
Transcript: ENSMUST00000229973
AA Change: E30G

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: 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: 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: ENSMUST00000190400

Meta Mutation Damage Score

0.0861

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.7%
20x: 93.6%

Validation Efficiency

100% (69/69)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	A	G	19: 8,989,822 (GRCm39)		probably benign	Het
Ap3m1	A	G	14: 21,094,843 (GRCm39)	I108T	probably benign	Het
Apobec1	T	C	6: 122,568,061 (GRCm39)	M1V	probably null	Het
Aqr	A	T	2: 113,943,090 (GRCm39)	L1161*	probably null	Het
Aqr	A	T	2: 114,000,506 (GRCm39)		probably null	Het
Arhgef37	A	G	18: 61,637,402 (GRCm39)	I420T	probably benign	Het
Cacna1g	C	T	11: 94,350,541 (GRCm39)	E435K	probably damaging	Het
Card6	G	T	15: 5,129,858 (GRCm39)	H513N	probably benign	Het
Ccdc158	A	C	5: 92,814,738 (GRCm39)	F29L	probably benign	Het
Ccr6	T	C	17: 8,474,936 (GRCm39)	L47S	probably damaging	Het
Cdc42bpa	T	A	1: 179,900,018 (GRCm39)	Y444*	probably null	Het
Cdh17	A	G	4: 11,784,654 (GRCm39)	Y270C	probably damaging	Het
Cdh9	T	C	15: 16,778,233 (GRCm39)	F16S	probably benign	Het
Cdkl1	T	C	12: 69,804,014 (GRCm39)	K141R	probably damaging	Het
Cfhr4	T	A	1: 139,664,578 (GRCm39)	I494F	probably damaging	Het
Chd4	T	C	6: 125,084,443 (GRCm39)	Y692H	probably damaging	Het
Dhrs7	T	A	12: 72,704,184 (GRCm39)	D104V	probably damaging	Het
Dhtkd1	A	T	2: 5,922,500 (GRCm39)	L553Q	probably benign	Het
Dnah7a	T	G	1: 53,536,255 (GRCm39)	D2596A	probably benign	Het
Dync1li2	T	C	8: 105,164,073 (GRCm39)	K151E	probably damaging	Het
Eno4	C	T	19: 58,943,928 (GRCm39)	H297Y	probably benign	Het
Epg5	T	A	18: 78,019,156 (GRCm39)	D976E	possibly damaging	Het
Fhip2a	T	A	19: 57,371,602 (GRCm39)	F571L	probably damaging	Het
Gm4553	C	A	7: 141,718,773 (GRCm39)	K218N	unknown	Het
Gpld1	A	T	13: 25,146,739 (GRCm39)	T234S	probably benign	Het
Gtpbp6	A	T	5: 110,252,567 (GRCm39)		probably benign	Het
Gucy2g	T	C	19: 55,229,367 (GRCm39)	E101G	probably benign	Het
Gvin3	T	C	7: 106,196,179 (GRCm39)		noncoding transcript	Het
Hira	G	A	16: 18,744,609 (GRCm39)	R442K	possibly damaging	Het
Hrh3	A	G	2: 179,742,350 (GRCm39)	L394P	probably damaging	Het
Igkv1-110	T	A	6: 68,248,176 (GRCm39)	F95Y	probably damaging	Het
Iqgap3	T	G	3: 87,997,493 (GRCm39)	V223G	probably damaging	Het
Itpk1	T	C	12: 102,671,069 (GRCm39)	T3A	probably damaging	Het
Jag1	A	G	2: 136,927,074 (GRCm39)	V895A	possibly damaging	Het
Kazn	G	A	4: 141,845,514 (GRCm39)		probably benign	Het
Large2	A	T	2: 92,198,124 (GRCm39)	L282Q	probably benign	Het
Lgmn	A	G	12: 102,369,680 (GRCm39)		probably null	Het
Lrp4	A	T	2: 91,322,767 (GRCm39)	I1119F	probably benign	Het
Map3k19	T	C	1: 127,751,299 (GRCm39)	H684R	probably benign	Het
Mier3	C	T	13: 111,851,107 (GRCm39)	A367V	possibly damaging	Het
Mpdz	A	G	4: 81,213,685 (GRCm39)	V1579A	probably benign	Het
Mroh2b	A	T	15: 4,929,932 (GRCm39)	D6V	possibly damaging	Het
Myh7b	A	G	2: 155,473,670 (GRCm39)	I1568V	probably benign	Het
Or52e8b	T	A	7: 104,673,594 (GRCm39)	I198F	probably damaging	Het
Plch2	C	T	4: 155,127,766 (GRCm39)		probably benign	Het
Plek	T	C	11: 16,945,216 (GRCm39)	D38G	probably damaging	Het
Samsn1	A	G	16: 75,685,645 (GRCm39)	S38P	probably benign	Het
Sf1	C	T	19: 6,422,589 (GRCm39)	T248I	probably damaging	Het
Sgms2	C	T	3: 131,124,005 (GRCm39)	V232M	probably benign	Het
Sharpin	A	T	15: 76,232,530 (GRCm39)	L160H	probably damaging	Het
Sympk	C	T	7: 18,769,967 (GRCm39)	R215C	probably benign	Het
Syn3	T	C	10: 86,243,532 (GRCm39)	T136A	probably benign	Het
Tcam1	G	A	11: 106,176,278 (GRCm39)	V335M	possibly damaging	Het
Tedc1	G	T	12: 113,120,325 (GRCm39)	V56L	possibly damaging	Het
Tenm4	T	C	7: 96,544,995 (GRCm39)	L2337P	probably damaging	Het
Ttn	G	A	2: 76,715,155 (GRCm39)		probably benign	Het
Tysnd1	T	A	10: 61,532,050 (GRCm39)	I234N	probably damaging	Het
Vmn2r51	T	C	7: 9,834,349 (GRCm39)	K230E	probably damaging	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
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
R7494:Polr2f	UTSW	15	79,028,865 (GRCm39)	critical splice donor site	probably null

Predicted Primers

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

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

Posted On

2016-06-15