Mutagenetix > Incidental Mutation

Incidental Mutation 'R6660:Polr1a'

526805

Institutional Source

Beutler Lab

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

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

MMRRC Submission

044780-MU

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6660 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71967374 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1275 (V1275A)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

probably damaging
Transcript: ENSMUST00000055296
AA Change: V1275A

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: V1275A

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

noncoding transcript
Transcript: ENSMUST00000181028

Predicted Effect

unknown
Transcript: ENSMUST00000205517
AA Change: V300A

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.3%
20x: 95.5%

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg1	A	T	11: 120,346,755 (GRCm38)	I289N	probably damaging	Het
Atg5	A	G	10: 44,294,655 (GRCm38)	N99S	probably benign	Het
Ccdc88a	A	G	11: 29,482,663 (GRCm38)	Q1223R	probably benign	Het
Cdc42	T	C	4: 137,328,834 (GRCm38)	D122G	probably benign	Het
Cpxm1	A	G	2: 130,396,149 (GRCm38)	S127P	probably damaging	Het
Cyfip2	A	G	11: 46,249,807 (GRCm38)	C730R	possibly damaging	Het
Ddx60	T	A	8: 61,956,239 (GRCm38)	H436Q	probably benign	Het
Dnah17	T	C	11: 118,100,188 (GRCm38)	Y1236C	probably benign	Het
Ep400	G	A	5: 110,719,447 (GRCm38)	R1000*	probably null	Het
Ergic3	A	G	2: 156,017,834 (GRCm38)	I227V	probably damaging	Het
Fam227b	G	T	2: 126,144,307 (GRCm38)	P13Q	probably damaging	Het
Fam71d	T	C	12: 78,715,357 (GRCm38)	V265A	possibly damaging	Het
Gal	A	G	19: 3,410,108 (GRCm38)	L121P	possibly damaging	Het
Ifi207	T	C	1: 173,729,406 (GRCm38)	T589A	probably benign	Het
Intu	T	C	3: 40,531,951 (GRCm38)	V27A	probably benign	Het
Lama1	A	T	17: 67,804,500 (GRCm38)	I2249L	probably benign	Het
Pdc	T	C	1: 150,333,335 (GRCm38)	Y190H	probably damaging	Het
Pmm2	T	C	16: 8,655,642 (GRCm38)	L240P	probably damaging	Het
Rgsl1	T	A	1: 153,825,766 (GRCm38)	N314I	possibly damaging	Het
Rpe65	A	T	3: 159,614,708 (GRCm38)	N301Y	probably damaging	Het
Ryr1	A	G	7: 29,038,345 (GRCm38)		probably null	Het
Sh3bp4	A	G	1: 89,153,166 (GRCm38)	S902G	possibly damaging	Het
Slc44a4	A	T	17: 34,930,225 (GRCm38)	R705W	probably damaging	Het
Slc4a10	A	G	2: 62,250,403 (GRCm38)	I325V	possibly damaging	Het
Spns1	A	G	7: 126,375,065 (GRCm38)		probably null	Het
Syt6	T	G	3: 103,625,644 (GRCm38)	L363R	probably damaging	Het
Ttn	A	G	2: 76,714,415 (GRCm38)	V32781A	probably benign	Het
Ube2l6	A	G	2: 84,806,508 (GRCm38)	T99A	probably damaging	Het
Unc13b	A	T	4: 43,177,412 (GRCm38)		probably benign	Het
Vmn1r189	A	T	13: 22,101,896 (GRCm38)	L257H	possibly damaging	Het
Vmn2r111	T	C	17: 22,559,051 (GRCm38)	N549S	possibly damaging	Het
Zfpm2	T	C	15: 40,655,585 (GRCm38)		probably null	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
R4769:Polr1a	UTSW	6	71,950,868 (GRCm38)	missense	probably benign	0.01
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
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'- GTAACTGCACATGAGGAGCTG -3'
(R):5'- GTCTAGCACTTGGCAGAGACTG -3'

Sequencing Primer
(F):5'- GGTCCTGCAGGAACCTGG -3'
(R):5'- TCCTGGTAGGAGTCTGGAACTAAG -3'

Posted On

2018-07-23