Mutagenetix > Incidental Mutation

Incidental Mutation 'R0604:Polr3a'

55601

Institutional Source

Beutler Lab

Gene Symbol

Polr3a

Ensembl Gene

ENSMUSG00000025280

Gene Name

polymerase (RNA) III (DNA directed) polypeptide A

Synonyms

RPC155, 9330175N20Rik, RPC1

MMRRC Submission

038793-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0604 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24498764-24537126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24534232 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 91 (P91L)

Ref Sequence

ENSEMBL: ENSMUSP00000153243 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026322] [ENSMUST00000223718]

AlphaFold

B2RXC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026322
AA Change: P91L

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

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: P91L

Domain	Start	End	E-Value	Type
Blast:RPOLA_N	122	218	5e-43	BLAST
RPOLA_N	248	553	1.09e-176	SMART
Pfam:RNA_pol_Rpb1_4	728	834	4e-35	PFAM
Pfam:RNA_pol_Rpb1_5	841	1318	1.2e-92	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000223718
AA Change: P91L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223931

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225526

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is the catalytic component of RNA polymerase III, which synthesizes small RNAs. The encoded protein also acts as a sensor to detect foreign DNA and trigger an innate immune response. [provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap1	T	C	11: 69,775,451 (GRCm39)	E302G	probably benign	Het
Acsbg3	T	A	17: 57,192,169 (GRCm39)	Y577*	probably null	Het
Adrb2	G	A	18: 62,311,586 (GRCm39)	T413I	possibly damaging	Het
Aqr	T	C	2: 113,961,085 (GRCm39)	K725R	probably benign	Het
Braf	A	G	6: 39,600,631 (GRCm39)	I662T	probably damaging	Het
Ccdc178	A	G	18: 22,200,500 (GRCm39)	S435P	probably benign	Het
Chd9	A	G	8: 91,763,170 (GRCm39)	M2332V	possibly damaging	Het
Clgn	T	C	8: 84,150,823 (GRCm39)	V496A	probably benign	Het
Dnah17	A	C	11: 118,012,297 (GRCm39)	S193R	probably benign	Het
Dntt	A	G	19: 41,041,588 (GRCm39)	E424G	probably benign	Het
Fam149a	A	G	8: 45,798,045 (GRCm39)	L492P	probably damaging	Het
Fetub	T	C	16: 22,754,410 (GRCm39)	Y126H	possibly damaging	Het
Fgfr3	A	T	5: 33,890,126 (GRCm39)	Y96F	probably damaging	Het
Gm4952	A	G	19: 12,602,036 (GRCm39)	E148G	probably benign	Het
Gucy2g	T	A	19: 55,191,519 (GRCm39)	L977F	probably benign	Het
Il1r1	T	C	1: 40,321,406 (GRCm39)	V6A	probably benign	Het
Itsn2	C	A	12: 4,708,189 (GRCm39)	Q832K	probably benign	Het
Lats1	T	A	10: 7,588,425 (GRCm39)	F1014Y	probably damaging	Het
Mcc	G	A	18: 44,606,823 (GRCm39)	A536V	probably damaging	Het
Mtrf1	T	C	14: 79,653,327 (GRCm39)	V334A	possibly damaging	Het
Or1j21	T	A	2: 36,684,119 (GRCm39)	Y290*	probably null	Het
Or2t46	T	A	11: 58,472,174 (GRCm39)	M168K	probably damaging	Het
Or2z8	C	T	8: 72,812,244 (GRCm39)	T240M	probably damaging	Het
Or4p18	T	C	2: 88,232,727 (GRCm39)	T184A	probably benign	Het
Pard6g	A	G	18: 80,160,423 (GRCm39)	S179G	probably damaging	Het
Pierce1	C	A	2: 28,356,103 (GRCm39)	R60L	possibly damaging	Het
Psg27	A	T	7: 18,290,997 (GRCm39)	V402D	probably damaging	Het
Rttn	A	G	18: 88,995,882 (GRCm39)	I222V	probably damaging	Het
Sp9	T	A	2: 73,103,982 (GRCm39)	S179T	probably benign	Het
Tbc1d8	T	A	1: 39,444,407 (GRCm39)	H184L	probably damaging	Het
Vmn1r69	A	G	7: 10,314,581 (GRCm39)	V50A	probably benign	Het
Vmn2r58	A	G	7: 41,510,000 (GRCm39)	F526L	possibly damaging	Het

Other mutations in Polr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Polr3a	APN	14	24,525,931 (GRCm39)	missense	probably benign	0.35
IGL00974:Polr3a	APN	14	24,529,492 (GRCm39)	missense	probably benign	0.05
IGL01348:Polr3a	APN	14	24,511,831 (GRCm39)	missense	probably damaging	1.00
IGL01464:Polr3a	APN	14	24,520,749 (GRCm39)	splice site	probably benign
IGL01785:Polr3a	APN	14	24,534,188 (GRCm39)	nonsense	probably null
IGL01786:Polr3a	APN	14	24,534,188 (GRCm39)	nonsense	probably null
IGL01936:Polr3a	APN	14	24,529,256 (GRCm39)	missense	probably damaging	1.00
IGL02095:Polr3a	APN	14	24,504,678 (GRCm39)	missense	possibly damaging	0.91
IGL02454:Polr3a	APN	14	24,525,891 (GRCm39)	missense	possibly damaging	0.87
IGL02702:Polr3a	APN	14	24,520,945 (GRCm39)	missense	probably benign	0.07
IGL02961:Polr3a	APN	14	24,517,108 (GRCm39)	nonsense	probably null
IGL03069:Polr3a	APN	14	24,511,808 (GRCm39)	missense	probably damaging	0.99
R0001:Polr3a	UTSW	14	24,502,257 (GRCm39)	splice site	probably benign
R0048:Polr3a	UTSW	14	24,519,323 (GRCm39)	splice site	probably benign
R0157:Polr3a	UTSW	14	24,529,254 (GRCm39)	missense	probably damaging	0.99
R0445:Polr3a	UTSW	14	24,504,989 (GRCm39)	missense	probably benign	0.00
R0449:Polr3a	UTSW	14	24,534,534 (GRCm39)	missense	probably damaging	0.99
R0597:Polr3a	UTSW	14	24,534,202 (GRCm39)	missense	probably benign	0.29
R0644:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0703:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0754:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0767:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0816:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0817:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0819:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R0840:Polr3a	UTSW	14	24,502,268 (GRCm39)	missense	possibly damaging	0.95
R1481:Polr3a	UTSW	14	24,502,616 (GRCm39)	missense	probably null	0.98
R1644:Polr3a	UTSW	14	24,520,692 (GRCm39)	missense	probably damaging	1.00
R1699:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
R1704:Polr3a	UTSW	14	24,534,188 (GRCm39)	nonsense	probably null
R2363:Polr3a	UTSW	14	24,525,960 (GRCm39)	splice site	probably null
R3419:Polr3a	UTSW	14	24,517,103 (GRCm39)	missense	probably damaging	1.00
R3934:Polr3a	UTSW	14	24,526,169 (GRCm39)	missense	probably benign	0.30
R4296:Polr3a	UTSW	14	24,503,264 (GRCm39)	missense	possibly damaging	0.82
R4611:Polr3a	UTSW	14	24,502,576 (GRCm39)	splice site	probably null
R4690:Polr3a	UTSW	14	24,514,349 (GRCm39)	missense	possibly damaging	0.78
R4934:Polr3a	UTSW	14	24,502,692 (GRCm39)	missense	probably benign	0.11
R4947:Polr3a	UTSW	14	24,532,532 (GRCm39)	missense	probably benign	0.00
R5232:Polr3a	UTSW	14	24,503,279 (GRCm39)	missense	probably benign	0.00
R5263:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5264:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5265:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5282:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5319:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5321:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5323:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5387:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5388:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5401:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5402:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5443:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5444:Polr3a	UTSW	14	24,505,009 (GRCm39)	missense	possibly damaging	0.65
R5725:Polr3a	UTSW	14	24,515,455 (GRCm39)	splice site	probably null
R5841:Polr3a	UTSW	14	24,500,766 (GRCm39)	missense	probably benign	0.00
R6408:Polr3a	UTSW	14	24,536,939 (GRCm39)	critical splice donor site	probably null
R6704:Polr3a	UTSW	14	24,511,910 (GRCm39)	missense	probably damaging	1.00
R7136:Polr3a	UTSW	14	24,511,883 (GRCm39)	missense	probably damaging	1.00
R7307:Polr3a	UTSW	14	24,510,055 (GRCm39)	missense	probably benign	0.03
R7368:Polr3a	UTSW	14	24,517,144 (GRCm39)	missense	probably damaging	0.98
R7800:Polr3a	UTSW	14	24,534,455 (GRCm39)	missense	probably null	0.83
R8753:Polr3a	UTSW	14	24,513,702 (GRCm39)	nonsense	probably null
R8785:Polr3a	UTSW	14	24,502,383 (GRCm39)	missense	probably benign	0.06
R8848:Polr3a	UTSW	14	24,500,834 (GRCm39)	missense	probably damaging	1.00
R9025:Polr3a	UTSW	14	24,519,479 (GRCm39)	missense	probably damaging	1.00
R9139:Polr3a	UTSW	14	24,519,416 (GRCm39)	missense	probably damaging	1.00
R9264:Polr3a	UTSW	14	24,520,899 (GRCm39)	missense	probably benign
R9309:Polr3a	UTSW	14	24,510,067 (GRCm39)	missense	probably benign
R9363:Polr3a	UTSW	14	24,500,831 (GRCm39)	missense	probably damaging	1.00
R9526:Polr3a	UTSW	14	24,503,313 (GRCm39)	missense	probably benign	0.00
R9585:Polr3a	UTSW	14	24,502,289 (GRCm39)	missense	probably damaging	1.00
Z1088:Polr3a	UTSW	14	24,529,792 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- GCACGGCTTGCGATGAATAAACTAC -3'
(R):5'- TCCCAGTGTTCCACAGTTGACACG -3'

Sequencing Primer
(F):5'- agcaccaaacgccttacc -3'
(R):5'- ACGTGAAATCGTTGGTCCC -3'

Posted On

2013-07-11