Mutagenetix > Incidental Mutation

Incidental Mutation 'Y4339:Polr3h'

197514

Institutional Source

Beutler Lab

Gene Symbol

Polr3h

Ensembl Gene

ENSMUSG00000022476

Gene Name

polymerase (RNA) III (DNA directed) polypeptide H

Synonyms

5031409G22Rik, RPC8

Accession Numbers

Essential gene?

Probably essential (E-score: 0.951) question?

Stock #

Y4339 ()

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

81799231-81813824 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 81806609 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155181 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000230050]

AlphaFold

Q9D2C6

Predicted Effect

probably null
Transcript: ENSMUST00000023113

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476

Domain	Start	End	E-Value	Type
Pfam:SHS2_Rpb7-N	8	77	7.1e-23	PFAM
Pfam:RNA_pol_Rbc25	79	201	2.4e-46	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229402

Predicted Effect

probably null
Transcript: ENSMUST00000230050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.2%
20x: 92.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 2 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Tcaf2	C	T	6: 42,606,406 (GRCm39)	S516N	probably benign	Het

Other mutations in Polr3h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Polr3h	APN	15	81,806,697 (GRCm39)	missense	probably damaging	0.99
IGL01886:Polr3h	APN	15	81,801,591 (GRCm39)	missense	probably damaging	1.00
IGL03409:Polr3h	APN	15	81,801,595 (GRCm39)	missense	probably benign	0.01
R2436:Polr3h	UTSW	15	81,801,406 (GRCm39)	missense	probably benign	0.18
R4642:Polr3h	UTSW	15	81,806,667 (GRCm39)	missense	probably benign	0.16
R5631:Polr3h	UTSW	15	81,810,113 (GRCm39)	start gained	probably benign
R5927:Polr3h	UTSW	15	81,801,480 (GRCm39)	splice site	probably null
R5933:Polr3h	UTSW	15	81,800,835 (GRCm39)	missense	probably damaging	1.00
R6638:Polr3h	UTSW	15	81,802,505 (GRCm39)	missense	possibly damaging	0.96
R7412:Polr3h	UTSW	15	81,800,602 (GRCm39)	splice site	probably null
R7646:Polr3h	UTSW	15	81,801,571 (GRCm39)	missense	probably damaging	1.00
R7916:Polr3h	UTSW	15	81,806,613 (GRCm39)	missense	probably benign	0.10
R8487:Polr3h	UTSW	15	81,800,824 (GRCm39)	missense	probably benign	0.02
R9100:Polr3h	UTSW	15	81,806,717 (GRCm39)	splice site	probably benign

Predicted Primers

Posted On

2014-05-23