Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Polr1a'

186458

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

039693-MU

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71941535 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 692 (K692N)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

probably damaging
Transcript: ENSMUST00000055296
AA Change: K692N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: K692N

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: ENSMUST00000205942

Predicted Effect

probably benign
Transcript: ENSMUST00000206556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206753

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,678 (GRCm38)	Q131R	probably benign	Het
3632451O06Rik	G	C	14: 49,773,560 (GRCm38)	T230S	probably damaging	Het
Acaca	T	G	11: 84,264,084 (GRCm38)	D988E	probably benign	Het
Als2	A	G	1: 59,180,601 (GRCm38)	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,156,055 (GRCm38)	V391A	probably damaging	Het
Caprin1	A	T	2: 103,769,506 (GRCm38)	V608E	probably damaging	Het
Celsr3	T	A	9: 108,842,952 (GRCm38)	C2512*	probably null	Het
Cfl1	A	T	19: 5,493,555 (GRCm38)	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,725,944 (GRCm38)	V42I	probably damaging	Het
Chd2	A	G	7: 73,480,430 (GRCm38)	Y826H	probably damaging	Het
Col9a2	C	A	4: 121,040,974 (GRCm38)	P28T	unknown	Het
Cyp3a44	G	A	5: 145,779,743 (GRCm38)	P346S	probably damaging	Het
Dact2	A	G	17: 14,197,990 (GRCm38)	V151A	probably benign	Het
Dhx29	T	C	13: 112,952,843 (GRCm38)	I716T	probably damaging	Het
Esam	T	C	9: 37,537,621 (GRCm38)	S342P	probably damaging	Het
Fam189a2	C	A	19: 23,975,635 (GRCm38)	C437F	probably damaging	Het
Fer1l4	A	G	2: 156,035,598 (GRCm38)	V1053A	possibly damaging	Het
Grk3	A	G	5: 112,966,982 (GRCm38)	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,137,399 (GRCm38)		probably null	Het
Hsd3b5	T	A	3: 98,619,720 (GRCm38)	I137F	possibly damaging	Het
Itgav	A	T	2: 83,801,779 (GRCm38)	I902F	probably benign	Het
Itsn1	G	T	16: 91,909,223 (GRCm38)	C179F	probably damaging	Het
Kcnh8	G	A	17: 52,839,125 (GRCm38)	R347H	probably damaging	Het
Kif9	T	C	9: 110,489,966 (GRCm38)	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,746,454 (GRCm38)	Q324*	probably null	Het
Lcn9	G	A	2: 25,824,710 (GRCm38)	E154K	probably benign	Het
Mfge8	A	T	7: 79,141,773 (GRCm38)	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,931,043 (GRCm38)	R753*	probably null	Het
Mtif2	G	A	11: 29,540,721 (GRCm38)	R475Q	probably benign	Het
Nln	C	T	13: 104,036,947 (GRCm38)	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,948,767 (GRCm38)	E129G	probably benign	Het
Ocstamp	T	C	2: 165,397,516 (GRCm38)	D250G	probably damaging	Het
Olfr1065	A	C	2: 86,445,218 (GRCm38)	L255V	probably damaging	Het
Olfr403	A	T	11: 74,195,896 (GRCm38)	H131L	probably damaging	Het
Olfr503	T	C	7: 108,545,377 (GRCm38)	I284T	possibly damaging	Het
Pld1	A	T	3: 28,071,187 (GRCm38)	I417L	probably benign	Het
Qsox2	A	T	2: 26,220,747 (GRCm38)	Y152*	probably null	Het
Rpap1	T	C	2: 119,783,778 (GRCm38)	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,614,448 (GRCm38)	T246A	probably damaging	Het
Scn5a	T	C	9: 119,562,380 (GRCm38)	D82G	probably damaging	Het
Sema3d	A	G	5: 12,584,974 (GRCm38)	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 33,880,226 (GRCm38)	N282S	probably benign	Het
Snap47	A	T	11: 59,428,770 (GRCm38)	S181T	probably benign	Het
Snx9	A	C	17: 5,918,436 (GRCm38)	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,277,515 (GRCm38)	R838*	probably null	Het
Terb1	A	T	8: 104,488,491 (GRCm38)	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,418,008 (GRCm38)	A153V	probably damaging	Het
Ttn	T	C	2: 76,742,804 (GRCm38)	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,933,011 (GRCm38)	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,245,670 (GRCm38)	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,929,957 (GRCm38)		probably benign	Het
Zfp184	C	T	13: 21,959,273 (GRCm38)	T383M	probably damaging	Het
Zfp455	T	C	13: 67,198,639 (GRCm38)	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,082,174 (GRCm38)	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,584,110 (GRCm38)	N478K	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
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
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'- TCAGGTGCAAACATGACCATTCGG -3'
(R):5'- TTGGTGGTTCAGGCAACAGTAGAAG -3'

Sequencing Primer
(F):5'- ACATGACCATTCGGGGATGC -3'
(R):5'- GGTGTAACACCATTGCCATTAGC -3'

Posted On

2014-05-09