Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03383:Polr3k'

420771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3k

Ensembl Gene

ENSMUSG00000038628

Gene Name

polymerase (RNA) III (DNA directed) polypeptide K

Synonyms

C11, RPC11, 12.3kDa, 1500004O14Rik, RPC10

Accession Numbers

Essential gene?

Probably essential (E-score: 0.962) question?

Stock #

IGL03383

Quality Score

Status

Chromosome

Chromosomal Location

181506153-181512623 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 181507820 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 65 (T65A)

Ref Sequence

ENSEMBL: ENSMUSP00000044582 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000039551]

AlphaFold

Q9CQZ7

Predicted Effect

probably damaging
Transcript: ENSMUST00000039551
AA Change: T65A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000044582
Gene: ENSMUSG00000038628
AA Change: T65A

Domain	Start	End	E-Value	Type
RPOL9	3	53	8.44e-19	SMART
ZnF_C2C2	67	108	8.14e-20	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153214

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 small essential subunit of RNA polymerase III, the polymerase responsible for synthesizing transfer and small ribosomal RNAs in eukaryotes. The carboxy-terminal domain of this subunit shares a high degree of sequence similarity to the carboxy-terminal domain of an RNA polymerase II elongation factor. This similarity in sequence is supported by functional studies showing that this subunit is required for proper pausing and termination during transcription. Pseudogenes of this gene are found on chromosomes 13 and 17.[provided by RefSeq, Jul 2010]

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl4	C	T	4: 111,514,620 (GRCm39)		probably benign	Het
Cit	T	C	5: 116,011,904 (GRCm39)		probably benign	Het
Clmp	A	G	9: 40,685,737 (GRCm39)	N211S	probably damaging	Het
Cnot2	A	G	10: 116,330,722 (GRCm39)		probably benign	Het
Cntn6	A	G	6: 104,753,418 (GRCm39)		probably benign	Het
Dnajb9	C	T	12: 44,255,096 (GRCm39)		probably benign	Het
Ece2	T	A	16: 20,451,847 (GRCm39)	N411K	possibly damaging	Het
Fshr	A	G	17: 89,354,127 (GRCm39)	I77T	possibly damaging	Het
Fshr	A	G	17: 89,293,121 (GRCm39)	M519T	probably damaging	Het
Gm10654	G	A	8: 71,384,775 (GRCm39)		noncoding transcript	Het
Gm5093	A	G	17: 46,750,517 (GRCm39)	I170T	probably benign	Het
Meis3	A	G	7: 15,917,744 (GRCm39)	K299R	probably damaging	Het
Nxf1	T	C	19: 8,741,061 (GRCm39)	F15L	probably damaging	Het
Nxpe3	T	C	16: 55,670,076 (GRCm39)	D343G	probably benign	Het
Or4a73	A	T	2: 89,420,656 (GRCm39)	Y268N	probably benign	Het
Preb	A	T	5: 31,115,665 (GRCm39)	W222R	probably damaging	Het
Psmd11	T	C	11: 80,360,671 (GRCm39)	I56T	probably damaging	Het
Rtkn2	A	G	10: 67,853,667 (GRCm39)	T232A	probably damaging	Het
Scaf11	T	C	15: 96,318,064 (GRCm39)		probably null	Het
Slc4a10	A	T	2: 62,097,780 (GRCm39)	K493M	probably damaging	Het
Stard10	A	G	7: 100,991,777 (GRCm39)	K112E	probably damaging	Het
Sugp1	A	T	8: 70,522,217 (GRCm39)		probably benign	Het
Tasor	A	G	14: 27,163,918 (GRCm39)	I235V	possibly damaging	Het
Tmem156	T	C	5: 65,233,040 (GRCm39)	E139G	probably damaging	Het
Tubd1	C	T	11: 86,439,834 (GRCm39)		probably benign	Het
Uap1	G	A	1: 169,986,460 (GRCm39)	T174M	probably damaging	Het
Vmn2r13	T	C	5: 109,304,398 (GRCm39)	T678A	probably damaging	Het
Vmn2r84	A	T	10: 130,222,556 (GRCm39)	C555S	probably damaging	Het
Vps13d	T	C	4: 144,894,889 (GRCm39)		probably null	Het
Vps8	T	C	16: 21,254,573 (GRCm39)		probably null	Het
Wee1	A	G	7: 109,738,899 (GRCm39)	N590S	probably damaging	Het
Zfp112	C	A	7: 23,825,103 (GRCm39)	S357Y	probably damaging	Het
Zfp423	T	A	8: 88,586,080 (GRCm39)	K48*	probably null	Het
Zscan4d	A	G	7: 10,896,692 (GRCm39)	V226A	probably benign	Het

Other mutations in Polr3k

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01787:Polr3k	APN	2	181,506,251 (GRCm39)	utr 5 prime	probably benign
R4214:Polr3k	UTSW	2	181,510,035 (GRCm39)	missense	probably benign	0.02
R4779:Polr3k	UTSW	2	181,506,340 (GRCm39)	missense	probably damaging	1.00
R6056:Polr3k	UTSW	2	181,506,281 (GRCm39)	missense	probably damaging	0.99

Posted On

2016-08-02