Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Polr3a'

180693

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr3a

Ensembl Gene

ENSMUSG00000025280

Gene Name

polymerase (RNA) III (DNA directed) polypeptide A

Synonyms

RPC1, 9330175N20Rik, RPC155

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

24448696-24487058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24479188 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 368 (V368A)

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: V368A

PolyPhen 2 Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026322
Gene: ENSMUSG00000025280
AA Change: V368A

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: V368A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225014

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225526

Coding Region Coverage

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,861,423	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051		probably null	Het
C3ar1	T	A	6: 122,851,235	T8S	probably benign	Het
Caskin2	T	C	11: 115,804,717	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332		probably null	Het
Cfap45	T	G	1: 172,534,049	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368		probably benign	Het
Col7a1	T	A	9: 108,967,999		probably benign	Het
Cops7a	T	C	6: 124,962,416	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249	E1009*	probably null	Het
Epg5	C	A	18: 77,985,101	R1286S	probably damaging	Het
Etv1	T	C	12: 38,835,061		probably benign	Het
Exosc7	T	C	9: 123,135,891		probably benign	Het
Fam227a	T	C	15: 79,612,546	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596	S79T	probably damaging	Het
Gm10093	T	C	17: 78,492,129	V183A	probably damaging	Het
Gpnmb	C	T	6: 49,047,450	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773	T1390S	possibly damaging	Het
Npat	T	A	9: 53,558,226		probably benign	Het
Nr2e1	T	A	10: 42,567,973	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895	H87Q	probably damaging	Het
Psmb8	T	A	17: 34,200,194	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814	S229N	probably benign	Het
Thsd1	G	A	8: 22,252,231	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,694,549	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820		probably benign	Het
Xrn1	T	C	9: 96,048,344	S1535P	probably damaging	Het

Other mutations in Polr3a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00838:Polr3a	APN	14	24475863	missense	probably benign	0.35
IGL00974:Polr3a	APN	14	24479424	missense	probably benign	0.05
IGL01348:Polr3a	APN	14	24461763	missense	probably damaging	1.00
IGL01464:Polr3a	APN	14	24470681	splice site	probably benign
IGL01785:Polr3a	APN	14	24484120	nonsense	probably null
IGL01786:Polr3a	APN	14	24484120	nonsense	probably null
IGL02095:Polr3a	APN	14	24454610	missense	possibly damaging	0.91
IGL02454:Polr3a	APN	14	24475823	missense	possibly damaging	0.87
IGL02702:Polr3a	APN	14	24470877	missense	probably benign	0.07
IGL02961:Polr3a	APN	14	24467040	nonsense	probably null
IGL03069:Polr3a	APN	14	24461740	missense	probably damaging	0.99
R0001:Polr3a	UTSW	14	24452189	splice site	probably benign
R0048:Polr3a	UTSW	14	24469255	splice site	probably benign
R0157:Polr3a	UTSW	14	24479186	missense	probably damaging	0.99
R0445:Polr3a	UTSW	14	24454921	missense	probably benign	0.00
R0449:Polr3a	UTSW	14	24484466	missense	probably damaging	0.99
R0597:Polr3a	UTSW	14	24484134	missense	probably benign	0.29
R0604:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0644:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0703:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0754:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0767:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0816:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0817:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0819:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R0840:Polr3a	UTSW	14	24452200	missense	possibly damaging	0.95
R1481:Polr3a	UTSW	14	24452548	missense	probably null	0.98
R1644:Polr3a	UTSW	14	24470624	missense	probably damaging	1.00
R1699:Polr3a	UTSW	14	24484164	missense	probably damaging	1.00
R1704:Polr3a	UTSW	14	24484120	nonsense	probably null
R2363:Polr3a	UTSW	14	24475892	splice site	probably null
R3419:Polr3a	UTSW	14	24467035	missense	probably damaging	1.00
R3934:Polr3a	UTSW	14	24476101	missense	probably benign	0.30
R4296:Polr3a	UTSW	14	24453196	missense	possibly damaging	0.82
R4611:Polr3a	UTSW	14	24452508	splice site	probably null
R4690:Polr3a	UTSW	14	24464281	missense	possibly damaging	0.78
R4934:Polr3a	UTSW	14	24452624	missense	probably benign	0.11
R4947:Polr3a	UTSW	14	24482464	missense	probably benign	0.00
R5232:Polr3a	UTSW	14	24453211	missense	probably benign	0.00
R5263:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5264:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5265:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5282:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5319:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5321:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5323:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5387:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5388:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5401:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5402:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5443:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5444:Polr3a	UTSW	14	24454941	missense	possibly damaging	0.65
R5725:Polr3a	UTSW	14	24465387	splice site	probably null
R5841:Polr3a	UTSW	14	24450698	missense	probably benign	0.00
R6408:Polr3a	UTSW	14	24486871	critical splice donor site	probably null
R6704:Polr3a	UTSW	14	24461842	missense	probably damaging	1.00
R7136:Polr3a	UTSW	14	24461815	missense	probably damaging	1.00
R7307:Polr3a	UTSW	14	24459987	missense	probably benign	0.03
R7368:Polr3a	UTSW	14	24467076	missense	probably damaging	0.98
R7800:Polr3a	UTSW	14	24484387	missense	probably null	0.83
R8753:Polr3a	UTSW	14	24463634	nonsense	probably null
R8785:Polr3a	UTSW	14	24452315	missense	probably benign	0.06
R8848:Polr3a	UTSW	14	24450766	missense	probably damaging	1.00
R9025:Polr3a	UTSW	14	24469411	missense	probably damaging	1.00
R9139:Polr3a	UTSW	14	24469348	missense	probably damaging	1.00
R9264:Polr3a	UTSW	14	24470831	missense	probably benign
R9309:Polr3a	UTSW	14	24459999	missense	probably benign
R9363:Polr3a	UTSW	14	24450763	missense	probably damaging	1.00
R9526:Polr3a	UTSW	14	24453245	missense	probably benign	0.00
R9585:Polr3a	UTSW	14	24452221	missense	probably damaging	1.00
Z1088:Polr3a	UTSW	14	24479724	missense	probably damaging	0.96

Posted On

2014-05-07