Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01902:Polr1a'

179559

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

2900087K15Rik, 3010014K16Rik, 194kDa, mRPA1, Rpo1-4, RPA194

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71940732 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 47 (V47D)

Gene Model

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

AlphaFold

O35134

Predicted Effect

probably damaging
Transcript: ENSMUST00000055296
AA Change: V1022D

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: V1022D

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

probably damaging
Transcript: ENSMUST00000205517
AA Change: V47D

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

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 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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,267 (GRCm39)	S228P	probably damaging	Het
Adamtsl2	A	T	2: 26,977,264 (GRCm39)	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,789,933 (GRCm39)	L284P	probably damaging	Het
Bnc2	A	G	4: 84,309,181 (GRCm39)	I138T	probably damaging	Het
Cep350	A	G	1: 155,737,731 (GRCm39)	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,806,895 (GRCm39)	P2442T	unknown	Het
Cpne6	A	T	14: 55,750,207 (GRCm39)	T113S	possibly damaging	Het
Crnkl1	T	C	2: 145,766,632 (GRCm39)		probably null	Het
Cyp2c67	T	A	19: 39,637,470 (GRCm39)	D2V	probably damaging	Het
Frzb	T	A	2: 80,243,711 (GRCm39)	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Ins2	C	T	7: 142,233,179 (GRCm39)	C31Y	probably damaging	Het
Lipf	A	T	19: 33,948,179 (GRCm39)	N234Y	probably benign	Het
Mtf1	T	C	4: 124,698,720 (GRCm39)	F73L	probably damaging	Het
Nrxn1	A	G	17: 91,395,919 (GRCm39)		probably null	Het
Pcnx1	A	G	12: 82,025,868 (GRCm39)	T1538A	probably damaging	Het
Prune2	A	G	19: 17,096,002 (GRCm39)	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,156,934 (GRCm39)	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,648,181 (GRCm39)	H676L	probably benign	Het
Rbm20	A	T	19: 53,829,422 (GRCm39)	N607Y	probably damaging	Het
Smc5	G	A	19: 23,237,132 (GRCm39)	T233I	possibly damaging	Het
Snx13	A	T	12: 35,183,306 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,916,776 (GRCm39)	C510S	probably benign	Het
Tab2	A	T	10: 7,795,756 (GRCm39)	M242K	probably benign	Het
Tep1	A	G	14: 51,103,548 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het

Other mutations in Polr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01363:Polr1a	APN	6	71,925,470 (GRCm39)	missense	probably benign	0.32
IGL01834:Polr1a	APN	6	71,925,446 (GRCm39)	missense	probably benign
IGL02101:Polr1a	APN	6	71,927,786 (GRCm39)	missense	probably benign	0.00
IGL02325:Polr1a	APN	6	71,897,641 (GRCm39)	missense	probably benign	0.38
IGL02398:Polr1a	APN	6	71,913,540 (GRCm39)	splice site	probably benign
IGL02528:Polr1a	APN	6	71,941,701 (GRCm39)	missense	probably benign
IGL02555:Polr1a	APN	6	71,897,441 (GRCm39)	missense	probably damaging	0.98
IGL02613:Polr1a	APN	6	71,944,304 (GRCm39)	missense	probably damaging	1.00
IGL02693:Polr1a	APN	6	71,940,830 (GRCm39)	splice site	probably benign
IGL02892:Polr1a	APN	6	71,908,680 (GRCm39)	missense	possibly damaging	0.70
IGL03059:Polr1a	APN	6	71,913,496 (GRCm39)	missense	probably benign
IGL03174:Polr1a	APN	6	71,954,331 (GRCm39)	missense	possibly damaging	0.82
D4043:Polr1a	UTSW	6	71,918,401 (GRCm39)	missense	possibly damaging	0.92
R0092:Polr1a	UTSW	6	71,944,439 (GRCm39)	splice site	probably benign
R0217:Polr1a	UTSW	6	71,940,687 (GRCm39)	missense	probably benign	0.19
R0267:Polr1a	UTSW	6	71,951,123 (GRCm39)	missense	probably damaging	0.99
R0329:Polr1a	UTSW	6	71,943,400 (GRCm39)	missense	possibly damaging	0.96
R0330:Polr1a	UTSW	6	71,943,400 (GRCm39)	missense	possibly damaging	0.96
R0352:Polr1a	UTSW	6	71,897,747 (GRCm39)	splice site	probably benign
R0411:Polr1a	UTSW	6	71,955,405 (GRCm39)	missense	possibly damaging	0.95
R0446:Polr1a	UTSW	6	71,927,648 (GRCm39)	critical splice donor site	probably null
R0846:Polr1a	UTSW	6	71,901,627 (GRCm39)	missense	probably damaging	1.00
R1035:Polr1a	UTSW	6	71,944,900 (GRCm39)	missense	probably benign
R1294:Polr1a	UTSW	6	71,889,886 (GRCm39)	missense	probably damaging	0.99
R1460:Polr1a	UTSW	6	71,918,368 (GRCm39)	missense	probably damaging	0.99
R1657:Polr1a	UTSW	6	71,918,519 (GRCm39)	missense	probably damaging	1.00
R1846:Polr1a	UTSW	6	71,953,172 (GRCm39)	missense	probably damaging	0.98
R1862:Polr1a	UTSW	6	71,886,187 (GRCm39)	missense	probably damaging	0.96
R1865:Polr1a	UTSW	6	71,943,508 (GRCm39)	missense	probably damaging	1.00
R1903:Polr1a	UTSW	6	71,944,898 (GRCm39)	missense	probably benign	0.02
R1937:Polr1a	UTSW	6	71,913,536 (GRCm39)	critical splice donor site	probably null
R2063:Polr1a	UTSW	6	71,913,269 (GRCm39)	splice site	probably null
R2071:Polr1a	UTSW	6	71,953,058 (GRCm39)	missense	possibly damaging	0.64
R2084:Polr1a	UTSW	6	71,927,793 (GRCm39)	missense	possibly damaging	0.69
R2377:Polr1a	UTSW	6	71,949,810 (GRCm39)	critical splice donor site	probably null
R2410:Polr1a	UTSW	6	71,951,866 (GRCm39)	missense	probably benign
R3001:Polr1a	UTSW	6	71,890,000 (GRCm39)	missense	probably benign	0.01
R3001:Polr1a	UTSW	6	71,942,628 (GRCm39)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,942,628 (GRCm39)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,890,000 (GRCm39)	missense	probably benign	0.01
R3924:Polr1a	UTSW	6	71,906,434 (GRCm39)	missense	probably benign	0.00
R4105:Polr1a	UTSW	6	71,953,175 (GRCm39)	missense	probably damaging	0.98
R4125:Polr1a	UTSW	6	71,942,690 (GRCm39)	missense	probably benign	0.00
R4271:Polr1a	UTSW	6	71,930,006 (GRCm39)	missense	probably benign	0.02
R4440:Polr1a	UTSW	6	71,927,832 (GRCm39)	missense	probably damaging	0.98
R4667:Polr1a	UTSW	6	71,894,805 (GRCm39)	missense	probably benign	0.30
R4769:Polr1a	UTSW	6	71,927,852 (GRCm39)	missense	probably benign	0.01
R4801:Polr1a	UTSW	6	71,953,054 (GRCm39)	missense	probably benign	0.00
R4802:Polr1a	UTSW	6	71,953,054 (GRCm39)	missense	probably benign	0.00
R4828:Polr1a	UTSW	6	71,943,385 (GRCm39)	missense	possibly damaging	0.93
R4911:Polr1a	UTSW	6	71,886,213 (GRCm39)	missense	possibly damaging	0.67
R5071:Polr1a	UTSW	6	71,908,693 (GRCm39)	missense	possibly damaging	0.71
R5165:Polr1a	UTSW	6	71,944,909 (GRCm39)	missense	probably damaging	1.00
R5223:Polr1a	UTSW	6	71,944,891 (GRCm39)	missense	possibly damaging	0.73
R5239:Polr1a	UTSW	6	71,890,021 (GRCm39)	missense	probably damaging	1.00
R5546:Polr1a	UTSW	6	71,906,350 (GRCm39)	missense	possibly damaging	0.64
R5599:Polr1a	UTSW	6	71,944,346 (GRCm39)	missense	possibly damaging	0.95
R5696:Polr1a	UTSW	6	71,906,410 (GRCm39)	missense	probably benign	0.05
R5850:Polr1a	UTSW	6	71,903,667 (GRCm39)	missense	probably benign	0.00
R6274:Polr1a	UTSW	6	71,931,874 (GRCm39)	splice site	probably null
R6526:Polr1a	UTSW	6	71,906,427 (GRCm39)	missense	possibly damaging	0.89
R6578:Polr1a	UTSW	6	71,953,025 (GRCm39)	missense	possibly damaging	0.93
R6660:Polr1a	UTSW	6	71,944,358 (GRCm39)	missense	probably damaging	0.98
R6892:Polr1a	UTSW	6	71,941,696 (GRCm39)	missense	possibly damaging	0.72
R7274:Polr1a	UTSW	6	71,897,500 (GRCm39)	nonsense	probably null
R7291:Polr1a	UTSW	6	71,918,440 (GRCm39)	missense	probably benign	0.02
R7311:Polr1a	UTSW	6	71,927,863 (GRCm39)	missense	possibly damaging	0.53
R7431:Polr1a	UTSW	6	71,903,643 (GRCm39)	missense	probably benign	0.14
R7479:Polr1a	UTSW	6	71,913,281 (GRCm39)	missense	probably damaging	1.00
R7607:Polr1a	UTSW	6	71,890,005 (GRCm39)	missense	probably benign
R7739:Polr1a	UTSW	6	71,931,819 (GRCm39)	missense	possibly damaging	0.94
R7746:Polr1a	UTSW	6	71,918,496 (GRCm39)	missense	probably damaging	1.00
R7764:Polr1a	UTSW	6	71,930,054 (GRCm39)	missense	probably damaging	1.00
R7835:Polr1a	UTSW	6	71,892,126 (GRCm39)	missense	probably benign	0.02
R8029:Polr1a	UTSW	6	71,889,940 (GRCm39)	nonsense	probably null
R8057:Polr1a	UTSW	6	71,908,644 (GRCm39)	missense	possibly damaging	0.95
R8144:Polr1a	UTSW	6	71,927,600 (GRCm39)	missense	probably benign
R8170:Polr1a	UTSW	6	71,897,733 (GRCm39)	missense	probably benign
R8320:Polr1a	UTSW	6	71,918,368 (GRCm39)	missense	probably damaging	0.99
R8328:Polr1a	UTSW	6	71,897,718 (GRCm39)	missense	probably benign
R8331:Polr1a	UTSW	6	71,953,163 (GRCm39)	missense	probably damaging	1.00
R8362:Polr1a	UTSW	6	71,941,651 (GRCm39)	missense	probably benign	0.00
R8511:Polr1a	UTSW	6	71,897,504 (GRCm39)	missense	probably benign	0.01
R8709:Polr1a	UTSW	6	71,951,832 (GRCm39)	missense	probably benign
R8745:Polr1a	UTSW	6	71,931,755 (GRCm39)	missense	probably damaging	1.00
R8784:Polr1a	UTSW	6	71,927,612 (GRCm39)	missense	probably benign
R9055:Polr1a	UTSW	6	71,892,053 (GRCm39)	missense	possibly damaging	0.46
R9088:Polr1a	UTSW	6	71,908,767 (GRCm39)	missense	probably benign	0.26
R9211:Polr1a	UTSW	6	71,943,521 (GRCm39)	missense	probably damaging	1.00
R9228:Polr1a	UTSW	6	71,931,755 (GRCm39)	missense	probably damaging	1.00
R9240:Polr1a	UTSW	6	71,940,661 (GRCm39)	nonsense	probably null
R9267:Polr1a	UTSW	6	71,942,542 (GRCm39)	missense	probably benign
R9302:Polr1a	UTSW	6	71,901,683 (GRCm39)	critical splice donor site	probably null
R9744:Polr1a	UTSW	6	71,906,372 (GRCm39)	missense	probably benign	0.05

Posted On

2014-05-07