Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01013:Polr2f'

53995

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL01013

Quality Score

Status

Chromosome

Chromosomal Location

79025525-79035974 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 79030329 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 56 (Y56C)

Ref Sequence

ENSEMBL: ENSMUSP00000155332 (fasta)

Gene Model

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

AlphaFold

P61219

Predicted Effect

probably damaging
Transcript: ENSMUST00000040077
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
AA Change: Y56C

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 damaging
Transcript: ENSMUST00000230271
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000229973
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

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: ENSMUST00000190959

SMART Domains

Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229762

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

noncoding transcript
Transcript: ENSMUST00000229978

Coding Region Coverage

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	T	A	5: 77,034,053 (GRCm39)	E499D	possibly damaging	Het
Abca1	A	T	4: 53,038,185 (GRCm39)	L2059*	probably null	Het
Ankar	T	A	1: 72,690,148 (GRCm39)	I1228F	possibly damaging	Het
Appl1	A	T	14: 26,671,433 (GRCm39)	Y340N	possibly damaging	Het
Atp8b4	C	A	2: 126,165,007 (GRCm39)	R1103L	probably benign	Het
B4galt6	A	G	18: 20,822,070 (GRCm39)	V308A	probably damaging	Het
Ccdc162	G	A	10: 41,457,335 (GRCm39)	P1534L	probably benign	Het
Ccdc78	A	G	17: 26,008,028 (GRCm39)	E313G	possibly damaging	Het
Cep57l1	G	A	10: 41,616,865 (GRCm39)	R141*	probably null	Het
Cpsf1	G	A	15: 76,483,497 (GRCm39)	Q883*	probably null	Het
Crot	A	G	5: 9,043,575 (GRCm39)	Y16H	probably benign	Het
Cyld	T	G	8: 89,468,990 (GRCm39)	L587R	probably damaging	Het
Fam114a1	G	A	5: 65,188,738 (GRCm39)		probably null	Het
Fam89b	G	T	19: 5,779,397 (GRCm39)	D53E	probably benign	Het
Fig4	T	C	10: 41,143,782 (GRCm39)	M226V	probably benign	Het
Gm10722	A	T	9: 3,002,230 (GRCm39)	Y184F	probably damaging	Het
Hp	C	A	8: 110,305,653 (GRCm39)		probably benign	Het
Igsf9b	G	T	9: 27,245,600 (GRCm39)	R1189L	probably damaging	Het
Ilf3	A	G	9: 21,310,987 (GRCm39)	N620D	possibly damaging	Het
Jakmip3	A	C	7: 138,619,302 (GRCm39)	E228A	possibly damaging	Het
Kpna3	A	T	14: 61,607,966 (GRCm39)	I413K	probably damaging	Het
Letm1	A	T	5: 33,919,934 (GRCm39)	C202S	possibly damaging	Het
Lmod2	C	A	6: 24,604,134 (GRCm39)	Q370K	probably damaging	Het
Map4k5	T	C	12: 69,874,300 (GRCm39)		probably benign	Het
Mcidas	T	A	13: 113,134,119 (GRCm39)		probably benign	Het
Mme	A	G	3: 63,235,281 (GRCm39)		probably null	Het
Mrc1	T	C	2: 14,333,236 (GRCm39)	W1306R	probably damaging	Het
Mthfd1l	C	A	10: 3,980,716 (GRCm39)	Q473K	probably damaging	Het
Muc6	A	T	7: 141,234,333 (GRCm39)	C719*	probably null	Het
Nsun7	T	C	5: 66,440,944 (GRCm39)	I355T	possibly damaging	Het
Padi6	A	G	4: 140,456,314 (GRCm39)	L560P	probably damaging	Het
Parl	C	A	16: 20,101,540 (GRCm39)	A285S	possibly damaging	Het
Pclo	A	T	5: 14,843,848 (GRCm39)	M4795L	unknown	Het
Rasgrp2	A	T	19: 6,454,413 (GRCm39)	H152L	probably damaging	Het
Rpl10l	T	C	12: 66,331,001 (GRCm39)	D44G	probably benign	Het
Slc25a16	A	G	10: 62,780,212 (GRCm39)		probably null	Het
Snrnp200	G	A	2: 127,074,392 (GRCm39)	E1411K	probably damaging	Het
Tanc2	G	A	11: 105,515,891 (GRCm39)	R3Q	probably damaging	Het
Tbc1d32	G	T	10: 56,078,055 (GRCm39)		probably null	Het
Tcf7l2	T	C	19: 55,908,059 (GRCm39)		probably benign	Het
Tnrc6c	G	T	11: 117,612,855 (GRCm39)	V498L	probably benign	Het
Tymp	G	A	15: 89,260,513 (GRCm39)	H102Y	probably damaging	Het
Wdr76	T	C	2: 121,365,978 (GRCm39)	S492P	probably benign	Het
Zc3h12d	T	C	10: 7,715,720 (GRCm39)	I41T	probably damaging	Het

Other mutations in Polr2f

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R7494:Polr2f	UTSW	15	79,028,865 (GRCm39)	critical splice donor site	probably null

Posted On

2013-06-28