Mutagenetix > Incidental Mutation

Incidental Mutation 'R5631:Polr3h'

439879

Institutional Source

Beutler Lab

Gene Symbol

Polr3h

Ensembl Gene

ENSMUSG00000022476

Gene Name

polymerase (RNA) III (DNA directed) polypeptide H

Synonyms

5031409G22Rik, RPC8

MMRRC Submission

043282-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R5631 (G1)

Quality Score

150

Status

Not validated

Chromosome

Chromosomal Location

81799231-81813824 bp(-) (GRCm39)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 81810113 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 benign
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 benign
Transcript: ENSMUST00000230050

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	C	A	11: 72,067,590 (GRCm39)	V567L	possibly damaging	Het
Abraxas1	T	G	5: 100,965,840 (GRCm39)	Y68S	probably damaging	Het
Adamtsl1	C	T	4: 86,195,160 (GRCm39)	Q543*	probably null	Het
Anapc1	T	C	2: 128,499,137 (GRCm39)	Y845C	possibly damaging	Het
Ap4m1	A	G	5: 138,173,051 (GRCm39)	*98W	probably null	Het
Clock	G	A	5: 76,378,185 (GRCm39)	P572S	probably benign	Het
Cramp1	T	A	17: 25,204,577 (GRCm39)	T275S	possibly damaging	Het
Dock3	T	C	9: 106,832,898 (GRCm39)	S1038G	probably benign	Het
Fancm	T	C	12: 65,160,617 (GRCm39)	V1397A	probably damaging	Het
Fn1	T	C	1: 71,629,355 (GRCm39)	T2203A	probably damaging	Het
Gm57858	G	C	3: 36,101,026 (GRCm39)	Q49E	probably damaging	Het
Heatr5a	T	A	12: 52,002,310 (GRCm39)	I209F	probably benign	Het
Hfm1	A	G	5: 107,052,629 (GRCm39)	S285P	probably damaging	Het
Hpx	A	T	7: 105,244,808 (GRCm39)	C126S	probably damaging	Het
Ipo4	A	G	14: 55,869,526 (GRCm39)	V378A	probably damaging	Het
Ipo4	C	T	14: 55,870,838 (GRCm39)	V265I	probably benign	Het
Kcnv1	T	A	15: 44,972,753 (GRCm39)	T377S	probably damaging	Het
Kmt2a	A	T	9: 44,731,985 (GRCm39)		probably benign	Het
Ldlrad3	T	C	2: 101,900,301 (GRCm39)	D67G	probably damaging	Het
Lrrc71	T	A	3: 87,646,456 (GRCm39)	M535L	probably benign	Het
Mfhas1	G	A	8: 36,055,573 (GRCm39)	R16Q	probably damaging	Het
Mrc1	A	T	2: 14,333,383 (GRCm39)	K1355*	probably null	Het
Mrgprf	A	G	7: 144,862,283 (GRCm39)	I282V	probably benign	Het
Mvb12b	G	T	2: 33,717,715 (GRCm39)	P142Q	probably damaging	Het
Naip6	T	C	13: 100,436,646 (GRCm39)	I626V	probably benign	Het
Ncoa5	T	C	2: 164,855,041 (GRCm39)	D27G	possibly damaging	Het
Nrap	T	G	19: 56,342,553 (GRCm39)	E780A	probably benign	Het
Oplah	T	C	15: 76,189,441 (GRCm39)	I228V	probably benign	Het
Or5w1b	A	T	2: 87,475,952 (GRCm39)	S172T	probably benign	Het
Pkdrej	T	C	15: 85,704,638 (GRCm39)	M433V	probably benign	Het
Ppfibp1	T	C	6: 146,898,358 (GRCm39)	Y105H	probably damaging	Het
Rplp2	A	C	7: 141,031,172 (GRCm39)		probably benign	Het
Rps6ka4	T	C	19: 6,808,345 (GRCm39)		probably benign	Het
Rspry1	A	T	8: 95,355,706 (GRCm39)	M1L	possibly damaging	Het
Runx1	C	A	16: 92,492,451 (GRCm39)	R64L	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Slc9a5	C	T	8: 106,076,141 (GRCm39)	H45Y	possibly damaging	Het
Smc4	T	C	3: 68,937,645 (GRCm39)	I890T	probably benign	Het
Smtnl1	T	C	2: 84,649,098 (GRCm39)	E52G	probably benign	Het
Stag3	T	A	5: 138,294,139 (GRCm39)	I319N	probably damaging	Het
Stt3b	G	A	9: 115,083,913 (GRCm39)	T421I	probably benign	Het
Thumpd1	A	G	7: 119,319,825 (GRCm39)	L47P	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	T	C	14: 16,409,882 (GRCm38)	Y850H	probably damaging	Het
Trim34a	A	T	7: 103,897,946 (GRCm39)	E158V	probably damaging	Het
Trp53i13	C	A	11: 77,400,419 (GRCm39)		probably null	Het
Ugt3a1	T	C	15: 9,361,971 (GRCm39)	V249A	probably damaging	Het
Vmn1r128	G	A	7: 21,083,300 (GRCm39)	M1I	probably null	Het
Yars1	T	G	4: 129,103,542 (GRCm39)	L297R	probably damaging	Het
Yju2b	G	T	8: 84,990,510 (GRCm39)	Q41K	probably damaging	Het
Zkscan3	A	G	13: 21,578,703 (GRCm39)	L176P	probably damaging	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
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
Y4339:Polr3h	UTSW	15	81,806,609 (GRCm39)	critical splice donor site	probably null

Predicted Primers

Posted On

2016-11-08