Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00886:Polr3g'

28815

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

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00886

Quality Score

Status

Chromosome

Chromosomal Location

81673843-81711013 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81694677 bp

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 73 (Y73C)

Ref Sequence

ENSEMBL: ENSMUSP00000035289 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048993] [ENSMUST00000161920]

Predicted Effect

probably damaging
Transcript: ENSMUST00000048993
AA Change: Y73C

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

SMART Domains

Protein: ENSMUSP00000035289
Gene: ENSMUSG00000035834
AA Change: Y73C

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160331

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161093

SMART Domains

Protein: ENSMUSP00000124885
Gene: ENSMUSG00000035834

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	83	1.6e-14	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161920
AA Change: Y73C

PolyPhen 2 Score 0.781 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125054
Gene: ENSMUSG00000035834
AA Change: Y73C

Domain	Start	End	E-Value	Type
Pfam:RNA_pol_3_Rpc31	1	105	1e-13	PFAM
transmembrane domain	136	158	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	T	11: 110,163,275	R67H	possibly damaging	Het
Ak4	G	T	4: 101,447,189	E59*	probably null	Het
Ano10	T	C	9: 122,271,324	N116S	probably benign	Het
Arid1b	T	A	17: 5,126,979	H658Q	probably damaging	Het
Atf2	G	A	2: 73,845,503	T208I	possibly damaging	Het
Bco1	T	C	8: 117,130,637	W448R	probably damaging	Het
Cel	A	T	2: 28,559,385	C277S	probably damaging	Het
Chd5	T	A	4: 152,359,699	D296E	probably benign	Het
Crygd	C	T	1: 65,062,091	R115Q	probably benign	Het
Fmo9	T	C	1: 166,680,145		probably null	Het
Gdpgp1	T	G	7: 80,239,352	L377R	probably damaging	Het
Gm26938	T	A	5: 139,826,336	D3V	probably damaging	Het
Gpld1	T	A	13: 24,962,353	Y193*	probably null	Het
Gtf2h4	T	C	17: 35,669,982	H265R	probably damaging	Het
Hadh	G	T	3: 131,249,816	T83K	probably benign	Het
Hao1	T	C	2: 134,523,159	M183V	probably benign	Het
Hnrnpm	C	A	17: 33,649,902	R517L	probably damaging	Het
Ift88	T	C	14: 57,478,068	Y523H	probably damaging	Het
Il23r	G	T	6: 67,473,890	Q202K	possibly damaging	Het
Iyd	T	C	10: 3,540,444	D50A	probably benign	Het
Katnal2	A	T	18: 77,002,754	L248Q	probably damaging	Het
Krtap26-1	A	T	16: 88,647,379	V118E	possibly damaging	Het
Lzic	T	C	4: 149,493,296		probably null	Het
Mical2	T	A	7: 112,315,072	N316K	probably benign	Het
Ndufc2	T	A	7: 97,400,190	M1K	probably null	Het
Net1	A	G	13: 3,893,391		probably benign	Het
Olfr309	G	A	7: 86,307,051	L21F	probably damaging	Het
Pde1c	A	G	6: 56,173,674	Y287H	probably damaging	Het
Pitpnm1	T	C	19: 4,110,665		probably null	Het
Pla2r1	T	A	2: 60,424,324	E1300V	probably damaging	Het
Ryr1	T	A	7: 29,024,229	E4137V	probably damaging	Het
Scrib	T	C	15: 76,048,794	D1425G	possibly damaging	Het
Slc25a12	A	G	2: 71,344,032	Y23H	possibly damaging	Het
Spef2	C	A	15: 9,663,095	G867W	probably damaging	Het
Strn3	A	T	12: 51,610,150	Y698N	probably damaging	Het
Tldc1	T	C	8: 119,773,268		probably benign	Het
Ube3a	T	A	7: 59,284,737	F533I	probably damaging	Het

Other mutations in Polr3g

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01764:Polr3g	APN	13	81682119	missense	possibly damaging	0.93
R0118:Polr3g	UTSW	13	81676121	unclassified	probably benign
R0550:Polr3g	UTSW	13	81694773	missense	probably damaging	0.99
R3725:Polr3g	UTSW	13	81694635	missense	probably damaging	0.99
R6536:Polr3g	UTSW	13	81678216	missense	unknown
R6684:Polr3g	UTSW	13	81699531	intron	probably null
R7645:Polr3g	UTSW	13	81694444	missense	unknown

Posted On

2013-04-17