Mutagenetix > Incidental Mutation

Incidental Mutation 'R4642:Polr3h'

351696

Institutional Source

Beutler Lab

Gene Symbol

Polr3h

Ensembl Gene

ENSMUSG00000022476

Gene Name

polymerase (RNA) III (DNA directed) polypeptide H

Synonyms

5031409G22Rik, RPC8

MMRRC Submission

041904-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.956) question?

Stock #

R4642 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81799231-81813824 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 81806667 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 51 (I51V)

Ref Sequence

ENSEMBL: ENSMUSP00000023113 (fasta)

Gene Model

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

AlphaFold

Q9D2C6

Predicted Effect

probably benign
Transcript: ENSMUST00000023113
AA Change: I51V

PolyPhen 2 Score 0.164 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: I51V

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
AA Change: I51V

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Meta Mutation Damage Score

0.0851

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

96% (46/48)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	T	C	8: 80,415,982 (GRCm39)	T387A	probably damaging	Het
Acaca	A	T	11: 84,171,287 (GRCm39)	T3S	probably damaging	Het
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Cacna1g	A	G	11: 94,308,920 (GRCm39)	I1631T	probably damaging	Het
Camk1g	T	A	1: 193,038,667 (GRCm39)	D85V	probably damaging	Het
Caskin1	G	A	17: 24,725,602 (GRCm39)	S1296N	probably benign	Het
Ccbe1	A	T	18: 66,424,654 (GRCm39)		probably benign	Het
Ccdc184	T	G	15: 98,066,537 (GRCm39)	V114G	probably benign	Het
Cpxm2	C	T	7: 131,672,610 (GRCm39)	R313H	probably benign	Het
Crebrf	G	T	17: 26,962,035 (GRCm39)	E377D	probably benign	Het
Dcstamp	T	C	15: 39,618,118 (GRCm39)	F176L	probably benign	Het
Dnah2	T	C	11: 69,387,385 (GRCm39)	D947G	probably benign	Het
Erbb4	A	G	1: 68,289,791 (GRCm39)	I750T	probably damaging	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm16391	T	G	17: 76,591,826 (GRCm39)		noncoding transcript	Het
Gm973	A	T	1: 59,597,273 (GRCm39)	E434D	probably damaging	Het
Hdac7	T	C	15: 97,704,397 (GRCm39)	E491G	probably damaging	Het
Hyal5	A	G	6: 24,876,621 (GRCm39)	N165D	probably benign	Het
Ly86	A	T	13: 37,560,877 (GRCm39)	R79S	possibly damaging	Het
Mapk7	A	G	11: 61,381,727 (GRCm39)	I13T	probably damaging	Het
Medag	T	A	5: 149,335,444 (GRCm39)	M1K	probably null	Het
Myh9	T	C	15: 77,646,151 (GRCm39)	D1944G	probably benign	Het
Nadk2	T	C	15: 9,092,810 (GRCm39)	W206R	possibly damaging	Het
Or7g18	T	A	9: 18,787,463 (GRCm39)	M280K	probably damaging	Het
Pcdhb11	T	A	18: 37,555,021 (GRCm39)	F117Y	probably benign	Het
Pdzd8	C	T	19: 59,293,662 (GRCm39)	E396K	probably damaging	Het
Piezo1	T	A	8: 123,222,193 (GRCm39)	Y541F	probably damaging	Het
Prune2	T	C	19: 16,998,019 (GRCm39)		probably null	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rars2	T	G	4: 34,656,229 (GRCm39)	V461G	probably damaging	Het
Rasgrp3	T	C	17: 75,805,443 (GRCm39)	C145R	possibly damaging	Het
Ryr1	T	C	7: 28,785,463 (GRCm39)	T1743A	possibly damaging	Het
Sac3d1	G	A	19: 6,166,434 (GRCm39)	A325V	possibly damaging	Het
Shank1	A	T	7: 43,962,565 (GRCm39)	D93V	unknown	Het
Smg1	T	C	7: 117,753,487 (GRCm39)		probably benign	Het
Tbl1xr1	A	T	3: 22,242,584 (GRCm39)	N38I	probably damaging	Het
Ufc1	A	G	1: 171,117,467 (GRCm39)	I82T	probably benign	Het
Uggt2	A	T	14: 119,272,347 (GRCm39)	M434K	probably benign	Het
Unc80	G	A	1: 66,710,873 (GRCm39)		probably null	Het
Zan	T	A	5: 137,462,450 (GRCm39)	T910S	unknown	Het
Zfp64	A	G	2: 168,776,851 (GRCm39)	C256R	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
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
Y4339:Polr3h	UTSW	15	81,806,609 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TACCTGTAGTCATCCACACTGATG -3'
(R):5'- AGTTCTGCATCCTGAGGTCC -3'

Sequencing Primer
(F):5'- GTGCCCAGTCACTGAAGTCAATTC -3'
(R):5'- ATCCTGAGGTCCCTGCCAC -3'

Posted On

2015-10-08