Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01764:Polr3g'

153626

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3g

Ensembl Gene

ENSMUSG00000035834

Gene Name

polymerase (RNA) III (DNA directed) polypeptide G

Synonyms

RPC32, 2310047G20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01764

Quality Score

Status

Chromosome

Chromosomal Location

81821962-81859132 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81830238 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 145 (T145M)

Ref Sequence

ENSEMBL: ENSMUSP00000035289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048993]

AlphaFold

Q6NXY9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048993
AA Change: T145M

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000035289
Gene: ENSMUSG00000035834
AA Change: T145M

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	223	7e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162535

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	T	10: 86,909,910 (GRCm39)	M1L	probably benign	Het
BC025920	T	A	10: 81,444,984 (GRCm39)	Y36N	probably damaging	Het
Cdk11b	G	A	4: 155,713,260 (GRCm39)	R112H	possibly damaging	Het
Ctu2	G	A	8: 123,206,161 (GRCm39)		probably benign	Het
Ddx56	A	C	11: 6,215,692 (GRCm39)	V219G	probably null	Het
Dnah14	T	C	1: 181,572,342 (GRCm39)	V2891A	probably benign	Het
Fbn2	G	T	18: 58,178,423 (GRCm39)	N1938K	probably damaging	Het
Fbxw20	A	G	9: 109,052,427 (GRCm39)	M302T	possibly damaging	Het
Fhdc1	G	A	3: 84,352,042 (GRCm39)	A1061V	possibly damaging	Het
Gpat2	T	C	2: 127,269,456 (GRCm39)	I36T	probably benign	Het
Gsta5	A	T	9: 78,211,789 (GRCm39)		probably null	Het
Hmcn2	A	G	2: 31,295,642 (GRCm39)	E2617G	possibly damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Krba1	C	T	6: 48,392,770 (GRCm39)	R895W	probably benign	Het
Large2	G	T	2: 92,197,531 (GRCm39)		probably benign	Het
Lrp1b	C	T	2: 40,587,454 (GRCm39)	V165M	unknown	Het
Mapk1	T	A	16: 16,801,597 (GRCm39)	M36K	possibly damaging	Het
Nf1	A	G	11: 79,275,013 (GRCm39)	T25A	probably benign	Het
Nrxn3	G	A	12: 90,171,524 (GRCm39)	V1316I	possibly damaging	Het
Pik3r4	G	A	9: 105,562,321 (GRCm39)		probably benign	Het
Plekhh1	G	T	12: 79,101,679 (GRCm39)	A250S	probably benign	Het
Prss32	A	G	17: 24,075,085 (GRCm39)	D145G	probably damaging	Het
Rab11fip3	T	C	17: 26,287,667 (GRCm39)	K162R	probably benign	Het
Spag7	A	G	11: 70,554,933 (GRCm39)		probably benign	Het
Spata2l	T	A	8: 123,960,914 (GRCm39)	Q125L	probably benign	Het
Tlr9	G	T	9: 106,103,004 (GRCm39)	C765F	probably damaging	Het
Trip11	A	T	12: 101,850,890 (GRCm39)	I773N	probably damaging	Het
Vcan	T	G	13: 89,873,507 (GRCm39)	T116P	probably damaging	Het
Vmn2r22	C	T	6: 123,627,379 (GRCm39)		probably null	Het
Yme1l1	T	C	2: 23,052,556 (GRCm39)	I70T	probably benign	Het
Zfp938	T	A	10: 82,063,624 (GRCm39)		probably benign	Het

Other mutations in Polr3g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00886:Polr3g	APN	13	81,842,796 (GRCm39)	missense	probably damaging	1.00
R0118:Polr3g	UTSW	13	81,824,240 (GRCm39)	unclassified	probably benign
R0550:Polr3g	UTSW	13	81,842,892 (GRCm39)	missense	probably damaging	0.99
R3725:Polr3g	UTSW	13	81,842,754 (GRCm39)	missense	probably damaging	0.99
R6536:Polr3g	UTSW	13	81,826,335 (GRCm39)	missense	unknown
R6684:Polr3g	UTSW	13	81,847,650 (GRCm39)	splice site	probably null
R7645:Polr3g	UTSW	13	81,842,563 (GRCm39)	missense	unknown
R8296:Polr3g	UTSW	13	81,842,682 (GRCm39)	missense	unknown
R8317:Polr3g	UTSW	13	81,826,302 (GRCm39)	missense	unknown
R9178:Polr3g	UTSW	13	81,842,535 (GRCm39)	missense	unknown

Posted On

2014-02-04