Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01617:Polr2i'

92422

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr2i

Ensembl Gene

ENSMUSG00000019738

Gene Name

polymerase (RNA) II (DNA directed) polypeptide I

Synonyms

2810002B19Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

IGL01617

Quality Score

Status

Chromosome

Chromosomal Location

29931499-29932812 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29931817 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 16 (F16S)

Ref Sequence

ENSEMBL: ENSMUSP00000019882 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006254] [ENSMUST00000019882] [ENSMUST00000108192] [ENSMUST00000108193] [ENSMUST00000149654] [ENSMUST00000189482]

AlphaFold

P60898

Predicted Effect

probably benign
Transcript: ENSMUST00000006254

SMART Domains

Protein: ENSMUSP00000006254
Gene: ENSMUSG00000006095

Domain	Start	End	E-Value	Type
Pfam:Ubiquitin_2	10	94	9.6e-30	PFAM
low complexity region	135	152	N/A	INTRINSIC
CAP_GLY	161	230	4.76e-35	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000019882
AA Change: F16S

PolyPhen 2 Score 0.711 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000019882
Gene: ENSMUSG00000019738
AA Change: F16S

Domain	Start	End	E-Value	Type
RPOL9	15	68	1.22e-24	SMART
ZnF_C2C2	84	125	2.18e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108192

SMART Domains

Protein: ENSMUSP00000103827
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	1	46	5.45e-13	SMART
ZnF_C2C2	62	103	2.18e-11	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000108193
AA Change: F16S

SMART Domains

Protein: ENSMUSP00000103828
Gene: ENSMUSG00000019738
AA Change: F16S

Domain	Start	End	E-Value	Type
Pfam:RNA_POL_M_15KD	14	41	1.8e-14	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138118

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138886

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145559

Predicted Effect

probably benign
Transcript: ENSMUST00000149654

SMART Domains

Protein: ENSMUSP00000116741
Gene: ENSMUSG00000019738

Domain	Start	End	E-Value	Type
RPOL9	1	46	5.45e-13	SMART
Blast:ZnF_C2C2	62	83	2e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150841

Predicted Effect

probably benign
Transcript: ENSMUST00000189482

SMART Domains

Protein: ENSMUSP00000140811
Gene: ENSMUSG00000100512

Domain	Start	End	E-Value	Type
ZnF_C2H2	69	91	3.2e-4	SMART
ZnF_C2H2	97	119	1.4e-6	SMART
ZnF_C2H2	125	148	3.2e-5	SMART
ZnF_C2H2	164	186	5.3e-4	SMART

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 a subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. This subunit, in combination with two other polymerase subunits, forms the DNA binding domain of the polymerase, a groove in which the DNA template is transcribed into RNA. The product of this gene has two zinc finger motifs with conserved cysteines and the subunit does possess zinc binding activity. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aass	T	A	6: 23,115,149 (GRCm39)	I160F	possibly damaging	Het
Cacna1d	C	T	14: 29,824,328 (GRCm39)	A1030T	probably damaging	Het
Ceacam13	A	T	7: 17,745,308 (GRCm39)	D126V	possibly damaging	Het
Cep68	G	T	11: 20,189,510 (GRCm39)	Q501K	probably benign	Het
Cfhr1	A	T	1: 139,481,417 (GRCm39)	C154*	probably null	Het
Chd3	A	G	11: 69,249,060 (GRCm39)		probably benign	Het
Chrna5	A	G	9: 54,912,297 (GRCm39)	M262V	probably damaging	Het
Csrnp2	T	C	15: 100,382,524 (GRCm39)	Y172C	probably benign	Het
Dzip1	G	T	14: 119,118,477 (GRCm39)	P752Q	probably benign	Het
Frem1	G	A	4: 82,854,376 (GRCm39)	T1630I	probably benign	Het
Gabrr1	G	A	4: 33,162,634 (GRCm39)	S400N	probably benign	Het
Hmcn1	C	T	1: 150,547,783 (GRCm39)	A2723T	probably benign	Het
Htt	A	G	5: 35,034,099 (GRCm39)	H1895R	possibly damaging	Het
Kif21a	T	C	15: 90,879,840 (GRCm39)		probably benign	Het
Mitf	A	G	6: 97,973,389 (GRCm39)	I241V	probably benign	Het
Mterf1b	A	T	5: 4,246,503 (GRCm39)	D48V	probably benign	Het
Nmbr	G	T	10: 14,646,173 (GRCm39)	R349M	probably benign	Het
Pik3r4	T	C	9: 105,532,164 (GRCm39)	S579P	probably benign	Het
Psmg2	G	A	18: 67,786,293 (GRCm39)	V218I	probably benign	Het
Rgs11	A	G	17: 26,427,224 (GRCm39)	H385R	probably damaging	Het
Rufy4	G	A	1: 74,168,513 (GRCm39)	G99R	probably damaging	Het
Slc29a1	A	G	17: 45,900,375 (GRCm39)	F185S	probably benign	Het
Spag17	G	A	3: 100,016,824 (GRCm39)	V2200I	possibly damaging	Het
Trappc14	A	T	5: 138,260,478 (GRCm39)	L47Q	probably damaging	Het
Ttc7b	G	T	12: 100,352,215 (GRCm39)	A414D	possibly damaging	Het
Ugt2b37	A	T	5: 87,399,738 (GRCm39)	W257R	probably damaging	Het
Ythdc2	A	G	18: 44,974,482 (GRCm39)	I381M	possibly damaging	Het

Other mutations in Polr2i

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0086:Polr2i	UTSW	7	29,932,511 (GRCm39)	missense	probably damaging	1.00
R0594:Polr2i	UTSW	7	29,932,170 (GRCm39)	splice site	probably null
R1474:Polr2i	UTSW	7	29,932,227 (GRCm39)	missense	probably damaging	1.00
R1730:Polr2i	UTSW	7	29,932,493 (GRCm39)	missense	probably damaging	1.00
R1783:Polr2i	UTSW	7	29,932,493 (GRCm39)	missense	probably damaging	1.00
R8783:Polr2i	UTSW	7	29,931,790 (GRCm39)	missense	possibly damaging	0.96
R9015:Polr2i	UTSW	7	29,932,513 (GRCm39)	missense	unknown
R9792:Polr2i	UTSW	7	29,932,190 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-12-09