Mutagenetix > Incidental Mutation

Incidental Mutation 'R4769:Polr1a'

366329

Institutional Source

Beutler Lab

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

RPA194, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4769 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71950868 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 868 (I868V)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055296] [ENSMUST00000206556]

AlphaFold

O35134

Predicted Effect

probably benign
Transcript: ENSMUST00000055296
AA Change: I868V

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: I868V

Domain	Start	End	E-Value	Type
RPOLA_N	302	649	8.97e-137	SMART
Pfam:RNA_pol_Rpb1_4	846	958	1.3e-26	PFAM
Pfam:RNA_pol_Rpb1_5	965	1669	7e-103	PFAM
low complexity region	1698	1708	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000206513

Predicted Effect

probably benign
Transcript: ENSMUST00000206556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206982

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.8%

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 largest subunit of the RNA polymerase I complex. The encoded protein represents the catalytic subunit of the complex, which transcribes DNA into ribosomal RNA precursors. Defects in this gene are a cause of the Cincinnati type of acrofacial dysostosis. [provided by RefSeq, May 2016]

Allele List at MGI

All alleles(18) : Gene trapped(18)

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	A	C	14: 32,660,217 (GRCm38)	S1264A	probably benign	Het
Adamts13	T	G	2: 27,008,711 (GRCm38)	Y1361*	probably null	Het
Ahrr	A	T	13: 74,214,212 (GRCm38)	D389E	probably damaging	Het
Alx3	T	C	3: 107,600,691 (GRCm38)	F172S	probably damaging	Het
Antxrl	A	G	14: 34,073,070 (GRCm38)	H485R	possibly damaging	Het
Aox4	A	G	1: 58,259,148 (GRCm38)	D1091G	probably null	Het
Btbd1	T	A	7: 81,805,810 (GRCm38)	Q271L	probably benign	Het
Cd209c	A	T	8: 3,944,953 (GRCm38)	N70K	probably benign	Het
Cdc14a	C	T	3: 116,294,750 (GRCm38)		probably null	Het
Cenpe	A	G	3: 135,248,151 (GRCm38)	M1641V	probably benign	Het
Clec2e	G	A	6: 129,100,827 (GRCm38)	T16I	probably benign	Het
Clp1	T	C	2: 84,725,875 (GRCm38)	D87G	possibly damaging	Het
Dpy19l1	A	T	9: 24,426,148 (GRCm38)	F517I	probably damaging	Het
Dzip3	T	C	16: 48,938,474 (GRCm38)	N646S	probably damaging	Het
Ephx1	T	A	1: 180,995,978 (GRCm38)	Y188F	possibly damaging	Het
Etfa	A	T	9: 55,495,767 (GRCm38)	H81Q	possibly damaging	Het
Gigyf2	T	A	1: 87,440,849 (GRCm38)	F1084I	probably damaging	Het
Heatr3	T	C	8: 88,141,783 (GRCm38)		probably null	Het
Ift81	G	T	5: 122,594,593 (GRCm38)	H293N	probably benign	Het
Igkv9-120	G	T	6: 68,050,367 (GRCm38)	R88S	possibly damaging	Het
Il6	T	G	5: 30,018,078 (GRCm38)	L114*	probably null	Het
Ism2	A	T	12: 87,299,581 (GRCm38)	M42K	probably benign	Het
Lhx5	A	G	5: 120,436,438 (GRCm38)	E269G	probably benign	Het
Marveld1	T	G	19: 42,147,995 (GRCm38)	M116R	possibly damaging	Het
Micall2	A	G	5: 139,706,886 (GRCm38)	S911P	probably damaging	Het
Mier1	G	A	4: 103,140,220 (GRCm38)	R195H	probably benign	Het
Muc2	T	A	7: 141,699,691 (GRCm38)		probably null	Het
Mybbp1a	A	G	11: 72,445,640 (GRCm38)	K486R	probably damaging	Het
Ncapd2	A	C	6: 125,185,745 (GRCm38)	L179R	probably damaging	Het
Nos1	C	T	5: 117,943,245 (GRCm38)	Q1171*	probably null	Het
Nrg1	T	A	8: 31,917,972 (GRCm38)	I78F	probably damaging	Het
Olfr1163	T	G	2: 88,070,729 (GRCm38)	T218P	probably benign	Het
Olfr220	T	G	1: 174,448,958 (GRCm38)	F112V	possibly damaging	Het
Plek2	C	T	12: 78,906,890 (GRCm38)		probably null	Het
Plod2	A	G	9: 92,595,272 (GRCm38)	H339R	probably damaging	Het
Pold1	C	T	7: 44,535,071 (GRCm38)	C835Y	probably damaging	Het
Prss54	C	A	8: 95,559,375 (GRCm38)	V357L	probably benign	Het
Rbbp8	T	A	18: 11,722,670 (GRCm38)	S625T	probably damaging	Het
Rgs1	A	T	1: 144,247,929 (GRCm38)	L86Q	probably damaging	Het
Ripk4	T	A	16: 97,744,062 (GRCm38)	N462Y	probably damaging	Het
Rsf1	C	T	7: 97,676,222 (GRCm38)	L1011F	probably damaging	Het
Slc19a3	G	A	1: 83,019,341 (GRCm38)	T382I	probably damaging	Het
Slc9a2	G	A	1: 40,726,374 (GRCm38)	R308Q	probably damaging	Het
Top2b	T	A	14: 16,398,991 (GRCm38)	L537Q	probably damaging	Het
Trim45	C	A	3: 100,931,734 (GRCm38)		probably benign	Het
Umodl1	G	T	17: 30,984,002 (GRCm38)	R443M	possibly damaging	Het
Vmn1r11	G	A	6: 57,137,612 (GRCm38)	R87K	probably damaging	Het
Vmn1r78	T	A	7: 12,152,798 (GRCm38)	I112N	probably damaging	Het
Zeb2	T	G	2: 44,996,435 (GRCm38)	E825A	probably damaging	Het
Zfp930	A	T	8: 69,226,692 (GRCm38)	I50F	probably benign	Het

Other mutations in Polr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Polr1a	APN	6	71,948,486 (GRCm38)	missense	probably benign	0.32
IGL01834:Polr1a	APN	6	71,948,462 (GRCm38)	missense	probably benign
IGL01902:Polr1a	APN	6	71,963,748 (GRCm38)	missense	probably damaging	1.00
IGL02101:Polr1a	APN	6	71,950,802 (GRCm38)	missense	probably benign	0.00
IGL02325:Polr1a	APN	6	71,920,657 (GRCm38)	missense	probably benign	0.38
IGL02398:Polr1a	APN	6	71,936,556 (GRCm38)	splice site	probably benign
IGL02528:Polr1a	APN	6	71,964,717 (GRCm38)	missense	probably benign
IGL02555:Polr1a	APN	6	71,920,457 (GRCm38)	missense	probably damaging	0.98
IGL02613:Polr1a	APN	6	71,967,320 (GRCm38)	missense	probably damaging	1.00
IGL02693:Polr1a	APN	6	71,963,846 (GRCm38)	splice site	probably benign
IGL02892:Polr1a	APN	6	71,931,696 (GRCm38)	missense	possibly damaging	0.70
IGL03059:Polr1a	APN	6	71,936,512 (GRCm38)	missense	probably benign
IGL03174:Polr1a	APN	6	71,977,347 (GRCm38)	missense	possibly damaging	0.82
D4043:Polr1a	UTSW	6	71,941,417 (GRCm38)	missense	possibly damaging	0.92
R0092:Polr1a	UTSW	6	71,967,455 (GRCm38)	splice site	probably benign
R0217:Polr1a	UTSW	6	71,963,703 (GRCm38)	missense	probably benign	0.19
R0267:Polr1a	UTSW	6	71,974,139 (GRCm38)	missense	probably damaging	0.99
R0329:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0330:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0352:Polr1a	UTSW	6	71,920,763 (GRCm38)	splice site	probably benign
R0411:Polr1a	UTSW	6	71,978,421 (GRCm38)	missense	possibly damaging	0.95
R0446:Polr1a	UTSW	6	71,950,664 (GRCm38)	critical splice donor site	probably null
R0846:Polr1a	UTSW	6	71,924,643 (GRCm38)	missense	probably damaging	1.00
R1035:Polr1a	UTSW	6	71,967,916 (GRCm38)	missense	probably benign
R1294:Polr1a	UTSW	6	71,912,902 (GRCm38)	missense	probably damaging	0.99
R1460:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R1657:Polr1a	UTSW	6	71,941,535 (GRCm38)	missense	probably damaging	1.00
R1846:Polr1a	UTSW	6	71,976,188 (GRCm38)	missense	probably damaging	0.98
R1862:Polr1a	UTSW	6	71,909,203 (GRCm38)	missense	probably damaging	0.96
R1865:Polr1a	UTSW	6	71,966,524 (GRCm38)	missense	probably damaging	1.00
R1903:Polr1a	UTSW	6	71,967,914 (GRCm38)	missense	probably benign	0.02
R1937:Polr1a	UTSW	6	71,936,552 (GRCm38)	critical splice donor site	probably null
R2063:Polr1a	UTSW	6	71,936,285 (GRCm38)	splice site	probably null
R2071:Polr1a	UTSW	6	71,976,074 (GRCm38)	missense	possibly damaging	0.64
R2084:Polr1a	UTSW	6	71,950,809 (GRCm38)	missense	possibly damaging	0.69
R2377:Polr1a	UTSW	6	71,972,826 (GRCm38)	critical splice donor site	probably null
R2410:Polr1a	UTSW	6	71,974,882 (GRCm38)	missense	probably benign
R3001:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3001:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3924:Polr1a	UTSW	6	71,929,450 (GRCm38)	missense	probably benign	0.00
R4105:Polr1a	UTSW	6	71,976,191 (GRCm38)	missense	probably damaging	0.98
R4125:Polr1a	UTSW	6	71,965,706 (GRCm38)	missense	probably benign	0.00
R4271:Polr1a	UTSW	6	71,953,022 (GRCm38)	missense	probably benign	0.02
R4440:Polr1a	UTSW	6	71,950,848 (GRCm38)	missense	probably damaging	0.98
R4667:Polr1a	UTSW	6	71,917,821 (GRCm38)	missense	probably benign	0.30
R4801:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4802:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4828:Polr1a	UTSW	6	71,966,401 (GRCm38)	missense	possibly damaging	0.93
R4911:Polr1a	UTSW	6	71,909,229 (GRCm38)	missense	possibly damaging	0.67
R5071:Polr1a	UTSW	6	71,931,709 (GRCm38)	missense	possibly damaging	0.71
R5165:Polr1a	UTSW	6	71,967,925 (GRCm38)	missense	probably damaging	1.00
R5223:Polr1a	UTSW	6	71,967,907 (GRCm38)	missense	possibly damaging	0.73
R5239:Polr1a	UTSW	6	71,913,037 (GRCm38)	missense	probably damaging	1.00
R5546:Polr1a	UTSW	6	71,929,366 (GRCm38)	missense	possibly damaging	0.64
R5599:Polr1a	UTSW	6	71,967,362 (GRCm38)	missense	possibly damaging	0.95
R5696:Polr1a	UTSW	6	71,929,426 (GRCm38)	missense	probably benign	0.05
R5850:Polr1a	UTSW	6	71,926,683 (GRCm38)	missense	probably benign	0.00
R6274:Polr1a	UTSW	6	71,954,890 (GRCm38)	splice site	probably null
R6526:Polr1a	UTSW	6	71,929,443 (GRCm38)	missense	possibly damaging	0.89
R6578:Polr1a	UTSW	6	71,976,041 (GRCm38)	missense	possibly damaging	0.93
R6660:Polr1a	UTSW	6	71,967,374 (GRCm38)	missense	probably damaging	0.98
R6892:Polr1a	UTSW	6	71,964,712 (GRCm38)	missense	possibly damaging	0.72
R7274:Polr1a	UTSW	6	71,920,516 (GRCm38)	nonsense	probably null
R7291:Polr1a	UTSW	6	71,941,456 (GRCm38)	missense	probably benign	0.02
R7311:Polr1a	UTSW	6	71,950,879 (GRCm38)	missense	possibly damaging	0.53
R7431:Polr1a	UTSW	6	71,926,659 (GRCm38)	missense	probably benign	0.14
R7479:Polr1a	UTSW	6	71,936,297 (GRCm38)	missense	probably damaging	1.00
R7607:Polr1a	UTSW	6	71,913,021 (GRCm38)	missense	probably benign
R7739:Polr1a	UTSW	6	71,954,835 (GRCm38)	missense	possibly damaging	0.94
R7746:Polr1a	UTSW	6	71,941,512 (GRCm38)	missense	probably damaging	1.00
R7764:Polr1a	UTSW	6	71,953,070 (GRCm38)	missense	probably damaging	1.00
R7835:Polr1a	UTSW	6	71,915,142 (GRCm38)	missense	probably benign	0.02
R8029:Polr1a	UTSW	6	71,912,956 (GRCm38)	nonsense	probably null
R8057:Polr1a	UTSW	6	71,931,660 (GRCm38)	missense	possibly damaging	0.95
R8144:Polr1a	UTSW	6	71,950,616 (GRCm38)	missense	probably benign
R8170:Polr1a	UTSW	6	71,920,749 (GRCm38)	missense	probably benign
R8320:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R8328:Polr1a	UTSW	6	71,920,734 (GRCm38)	missense	probably benign
R8331:Polr1a	UTSW	6	71,976,179 (GRCm38)	missense	probably damaging	1.00
R8362:Polr1a	UTSW	6	71,964,667 (GRCm38)	missense	probably benign	0.00
R8511:Polr1a	UTSW	6	71,920,520 (GRCm38)	missense	probably benign	0.01
R8709:Polr1a	UTSW	6	71,974,848 (GRCm38)	missense	probably benign
R8745:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R8784:Polr1a	UTSW	6	71,950,628 (GRCm38)	missense	probably benign
R9055:Polr1a	UTSW	6	71,915,069 (GRCm38)	missense	possibly damaging	0.46
R9088:Polr1a	UTSW	6	71,931,783 (GRCm38)	missense	probably benign	0.26
R9211:Polr1a	UTSW	6	71,966,537 (GRCm38)	missense	probably damaging	1.00
R9228:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R9240:Polr1a	UTSW	6	71,963,677 (GRCm38)	nonsense	probably null
R9267:Polr1a	UTSW	6	71,965,558 (GRCm38)	missense	probably benign
R9302:Polr1a	UTSW	6	71,924,699 (GRCm38)	critical splice donor site	probably null
R9744:Polr1a	UTSW	6	71,929,388 (GRCm38)	missense	probably benign	0.05

Predicted Primers

PCR Primer
(F):5'- AGTGTGGACCCCAGGTAAAG -3'
(R):5'- CTTCAAACTTCACCTAGTTGGGC -3'

Sequencing Primer
(F):5'- GTGGTCTGCTGTCCACCTTACAG -3'
(R):5'- TCACCTAGTTGGGCTGATCTAAAAGG -3'

Posted On

2015-12-21