Mutagenetix > Incidental Mutations

Incidental Mutation 'R5927:Polr3h'

459977

Institutional Source

Beutler Lab

Gene Symbol

Polr3h

Ensembl Gene

ENSMUSG00000022476

Gene Name

polymerase (RNA) III (DNA directed) polypeptide H

Synonyms

5031409G22Rik, RPC8

MMRRC Submission

044122-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.948) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

81888228-81926240 bp(-) (GRCm38)

Type of Mutation

unclassified (2146 bp from exon)

DNA Base Change (assembly)

G to T at 81917279 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000023116 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023113] [ENSMUST00000023116] [ENSMUST00000230050]

Predicted Effect

probably damaging
Transcript: ENSMUST00000023113
AA Change: S161Y

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000023113
Gene: ENSMUSG00000022476
AA Change: S161Y

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

probably null
Transcript: ENSMUST00000023116

SMART Domains

Protein: ENSMUSP00000023116
Gene: ENSMUSG00000022477

Domain	Start	End	E-Value	Type
Pfam:Aconitase	65	503	2.2e-160	PFAM
Pfam:Aconitase_C	582	712	5e-50	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229402

Predicted Effect

probably damaging
Transcript: ENSMUST00000230050
AA Change: S132Y

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230066

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230842

Meta Mutation Damage Score

0.2805

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,939,108	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,507,636		probably null	Het
Arhgdib	A	T	6: 136,924,138	W198R	probably damaging	Het
Atad5	T	A	11: 80,127,285	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,308,621	K500*	probably null	Het
Cdk11b	G	A	4: 155,648,240		probably benign	Het
Cmip	A	T	8: 117,257,309	T70S	possibly damaging	Het
Col22a1	G	T	15: 72,006,966	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,361,680	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,444,323		probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,381,672		probably benign	Het
Dnah5	A	T	15: 28,335,718	T2277S	probably benign	Het
Dysf	T	A	6: 84,207,212	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,290,243		probably benign	Het
Elp3	A	G	14: 65,582,177	Y111H	probably damaging	Het
Eps8l2	A	T	7: 141,356,346	Q243L	probably benign	Het
Eri2	C	A	7: 119,786,068	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,166,887	N614K	probably damaging	Het
Gm5108	T	G	5: 67,976,871	I74S	unknown	Het
Gpn1	T	C	5: 31,500,891	F130L	probably damaging	Het
Gpr176	T	A	2: 118,373,040	I50F	probably benign	Het
Gramd1a	A	G	7: 31,139,821	S221P	probably benign	Het
Hivep3	A	G	4: 120,097,108	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,879,399		noncoding transcript	Het
Itgb2	C	A	10: 77,546,034	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,843,005	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,909,376		probably benign	Het
Kif15	A	G	9: 123,017,261	S76G	probably benign	Het
Kpna3	C	T	14: 61,384,647	V223I	probably damaging	Het
Krt80	A	G	15: 101,364,208		probably benign	Het
Lama4	A	G	10: 39,072,812	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,725,424		probably benign	Het
Map4k3	A	G	17: 80,613,919	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,202	N255K	possibly damaging	Het
Npat	A	T	9: 53,562,221	K438*	probably null	Het
Olfr1246	T	A	2: 89,591,100	N5I	possibly damaging	Het
P4htm	T	C	9: 108,597,383	Y61C	probably damaging	Het
Prlr	C	T	15: 10,322,446	T176I	probably benign	Het
Psme4	T	G	11: 30,804,294	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 101,060,652	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792	E448G	probably damaging	Het
Rpf1	A	T	3: 146,519,463		probably null	Het
Sectm1b	T	C	11: 121,055,674	I132V	probably benign	Het
Sestd1	T	A	2: 77,187,159	H688L	probably benign	Het
Sidt2	T	C	9: 45,944,454	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,111,111	K938M	probably damaging	Het
Sin3b	C	A	8: 72,749,878	R647S	probably benign	Het
Slc16a14	T	C	1: 84,912,267	H439R	possibly damaging	Het
Stc1	T	C	14: 69,032,373	V134A	probably benign	Het
Stk11ip	G	A	1: 75,524,691	V24I	possibly damaging	Het
Tbx6	G	A	7: 126,784,853	A359T	possibly damaging	Het
Thra	G	A	11: 98,763,688	V295I	possibly damaging	Het
Tmem8	T	C	17: 26,121,998	Y692H	probably benign	Het
Tnr	T	C	1: 159,912,766	M1170T	probably damaging	Het
Tpcn2	T	A	7: 145,278,784	I112F	probably damaging	Het
Trdv2-2	T	C	14: 53,961,541	L96P	probably damaging	Het
Trim24	T	A	6: 37,958,569	W832R	probably damaging	Het
Usp4	T	G	9: 108,391,760	S891A	probably benign	Het
Vmn1r88	A	T	7: 13,178,513	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,624,494	L60S	probably benign	Het
Wdr74	T	C	19: 8,739,833	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,268,653		probably benign	Het
Xpo1	A	T	11: 23,268,656		probably benign	Het
Zfp850	C	A	7: 27,990,195	G196V	probably benign	Het

Other mutations in Polr3h

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01103:Polr3h	APN	15	81922496	missense	probably damaging	0.99
IGL01886:Polr3h	APN	15	81917390	missense	probably damaging	1.00
IGL03409:Polr3h	APN	15	81917394	missense	probably benign	0.01
R2436:Polr3h	UTSW	15	81917205	missense	probably benign	0.18
R4642:Polr3h	UTSW	15	81922466	missense	probably benign	0.16
R5631:Polr3h	UTSW	15	81925912	start gained	probably benign
R5933:Polr3h	UTSW	15	81916634	missense	probably damaging	1.00
R6638:Polr3h	UTSW	15	81918304	missense	possibly damaging	0.96
R7412:Polr3h	UTSW	15	81916401	splice site	probably null
R7646:Polr3h	UTSW	15	81917370	missense	probably damaging	1.00
Y4339:Polr3h	UTSW	15	81922408	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TGCCTGCCCATCATCTACAG -3'
(R):5'- CTCATGTACTCCCATGACACG -3'

Sequencing Primer
(F):5'- CCTCAAAAGCAGACTAGTGTGACTG -3'
(R):5'- CATGTACTCCCATGACACGATTGTG -3'

Posted On

2017-02-28