Mutagenetix > Incidental Mutation

Incidental Mutation 'R6704:Polr3a'

528873

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

044822-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6704 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24498764-24537126 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24511910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 882 (L882P)

Ref Sequence

ENSEMBL: ENSMUSP00000026322 (fasta)

Gene Model

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

AlphaFold

B2RXC6

Predicted Effect

probably damaging
Transcript: ENSMUST00000026322
AA Change: L882P

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

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: L882P

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 benign
Transcript: ENSMUST00000223718

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.9%
20x: 94.0%

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: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apob	T	C	12: 8,060,379 (GRCm39)	S2921P	probably damaging	Het
Asxl3	G	A	18: 22,650,362 (GRCm39)	A784T	probably benign	Het
Atm	T	C	9: 53,370,153 (GRCm39)	I2320V	probably benign	Het
Ccdc152	T	A	15: 3,310,195 (GRCm39)	I227F	probably damaging	Het
Cd109	T	C	9: 78,587,357 (GRCm39)	V675A	probably benign	Het
Col3a1	T	C	1: 45,386,892 (GRCm39)	Y235H	probably damaging	Het
Dnmbp	T	C	19: 43,889,652 (GRCm39)	D705G	probably damaging	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ermn	T	C	2: 57,938,046 (GRCm39)	D189G	possibly damaging	Het
Evx2	C	A	2: 74,486,499 (GRCm39)	A297S	probably damaging	Het
Fat1	T	C	8: 45,477,410 (GRCm39)	F2152S	probably damaging	Het
Fndc1	A	G	17: 7,990,642 (GRCm39)	V1018A	unknown	Het
Hyou1	T	C	9: 44,292,431 (GRCm39)		probably null	Het
Kcnma1	G	A	14: 24,052,882 (GRCm39)	Q187*	probably null	Het
Macf1	C	T	4: 123,304,555 (GRCm39)		probably benign	Het
Mcam	T	A	9: 44,048,217 (GRCm39)	D124E	probably benign	Het
Mical3	T	C	6: 120,986,761 (GRCm39)		probably benign	Het
Mlxipl	A	T	5: 135,166,094 (GRCm39)		probably null	Het
Myt1	A	G	2: 181,453,005 (GRCm39)	M1V	probably null	Het
Nlrc3	C	T	16: 3,782,945 (GRCm39)	V155I	probably damaging	Het
Nlrp2	A	C	7: 5,328,040 (GRCm39)	L671*	probably null	Het
Omd	A	G	13: 49,743,349 (GRCm39)	D133G	probably damaging	Het
Or5h19	T	C	16: 58,856,225 (GRCm39)	R292G	probably damaging	Het
Or9r7	T	A	10: 129,962,024 (GRCm39)	K301*	probably null	Het
Pappa	G	A	4: 65,123,161 (GRCm39)	C832Y	probably damaging	Het
Pcnx3	A	T	19: 5,736,515 (GRCm39)	V174E	possibly damaging	Het
Pfkl	C	T	10: 77,832,200 (GRCm39)	G297D	probably damaging	Het
Ptchd4	A	G	17: 42,627,931 (GRCm39)	T131A	probably benign	Het
Rad50	T	C	11: 53,589,745 (GRCm39)	N152S	probably damaging	Het
Ruvbl1	T	A	6: 88,456,187 (GRCm39)	M147K	probably benign	Het
Septin4	T	A	11: 87,479,856 (GRCm39)	I277N	probably damaging	Het
Serpini1	T	C	3: 75,545,255 (GRCm39)	V337A	probably damaging	Het
Tmem131	A	G	1: 36,835,261 (GRCm39)	V1620A	possibly damaging	Het
Tpr	A	G	1: 150,282,259 (GRCm39)	E248G	possibly damaging	Het
Ugt2b36	C	A	5: 87,239,990 (GRCm39)	V132F	probably damaging	Het
Utrn	T	C	10: 12,621,035 (GRCm39)	E212G	probably damaging	Het
Zc2hc1c	A	T	12: 85,337,258 (GRCm39)	Q305L	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
R0604:Polr3a	UTSW	14	24,534,232 (GRCm39)	missense	probably damaging	1.00
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
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'- AGACAGAGCCTCCAGAAGTCTG -3'
(R):5'- TGTGATTCGAGTGCTTATAACCC -3'

Sequencing Primer
(F):5'- TCCAGAAGTCTGCAGCCC -3'
(R):5'- ATTCGAGTGCTTATAACCCAGGGC -3'

Posted On

2018-07-24