Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01834:Polr1a'

154879

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 #

IGL01834

Quality Score

Status

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71925446 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 731 (I731T)

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: I731T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: I731T

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

unknown
Transcript: ENSMUST00000206513
AA Change: I34T

Predicted Effect

probably benign
Transcript: ENSMUST00000206556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206753

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206982

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	G	1: 58,348,183 (GRCm39)	I634V	possibly damaging	Het
Atp13a4	T	G	16: 29,234,595 (GRCm39)		probably benign	Het
BC049715	A	T	6: 136,817,489 (GRCm39)	Q243L	probably benign	Het
C2cd6	G	A	1: 59,036,604 (GRCm39)		probably benign	Het
Cd2ap	C	T	17: 43,137,251 (GRCm39)		probably null	Het
Cd2ap	T	A	17: 43,137,252 (GRCm39)		probably null	Het
Cd86	G	A	16: 36,427,481 (GRCm39)	R283W	probably benign	Het
CK137956	T	A	4: 127,840,442 (GRCm39)	K421N	probably damaging	Het
Coro2b	G	A	9: 62,338,639 (GRCm39)	T193I	possibly damaging	Het
Dido1	G	A	2: 180,325,824 (GRCm39)		probably benign	Het
Fas	A	G	19: 34,296,003 (GRCm39)	T149A	probably benign	Het
Gbp4	T	A	5: 105,273,468 (GRCm39)	I121F	probably damaging	Het
Hes3	C	T	4: 152,371,557 (GRCm39)	A106T	probably damaging	Het
Hyal2	T	C	9: 107,448,105 (GRCm39)	Y253H	probably damaging	Het
Kcnt1	T	C	2: 25,802,731 (GRCm39)		probably null	Het
Klhl12	C	A	1: 134,417,158 (GRCm39)	R557S	probably damaging	Het
Kmt2c	T	C	5: 25,600,453 (GRCm39)	T315A	probably benign	Het
Mchr1	A	G	15: 81,122,066 (GRCm39)	Y272C	probably damaging	Het
Mroh7	T	C	4: 106,538,071 (GRCm39)	I1202V	probably benign	Het
Mrpl38	T	A	11: 116,026,140 (GRCm39)	K87*	probably null	Het
Msh6	A	G	17: 88,293,140 (GRCm39)	T632A	probably damaging	Het
Myo9b	T	C	8: 71,808,962 (GRCm39)	I1767T	probably damaging	Het
Myo9b	C	A	8: 71,807,901 (GRCm39)	H1630Q	possibly damaging	Het
Naprt	A	G	15: 75,765,648 (GRCm39)	F92S	probably damaging	Het
Nsd3	T	A	8: 26,130,668 (GRCm39)	I11N	probably damaging	Het
Or5ae1	A	G	7: 84,565,860 (GRCm39)	Y291C	probably damaging	Het
Otof	T	C	5: 30,556,564 (GRCm39)	T306A	probably damaging	Het
Pcdh18	A	G	3: 49,711,279 (GRCm39)	F12S	probably benign	Het
Pcdhb12	A	T	18: 37,570,692 (GRCm39)	N613Y	probably damaging	Het
Ptprd	G	A	4: 76,046,832 (GRCm39)	T465I	probably damaging	Het
Rabgap1	A	G	2: 37,454,773 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,610,311 (GRCm39)	I607L	possibly damaging	Het
Slc39a9	G	A	12: 80,720,073 (GRCm39)		probably benign	Het
Srek1	C	A	13: 103,885,293 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,701,147 (GRCm39)	T377A	possibly damaging	Het
Sympk	G	T	7: 18,777,360 (GRCm39)	A537S	probably benign	Het
Tcf20	A	G	15: 82,739,898 (GRCm39)	S518P	probably damaging	Het
Ttc39d	A	G	17: 80,523,475 (GRCm39)	K45E	probably benign	Het
Vmn1r40	T	C	6: 89,691,554 (GRCm39)	F124L	possibly damaging	Het
Vmn2r69	A	G	7: 85,061,576 (GRCm39)	Y133H	probably damaging	Het
Vmn2r79	A	T	7: 86,686,354 (GRCm39)	E578D	probably benign	Het
Vwf	G	A	6: 125,567,133 (GRCm39)		probably benign	Het
Zbtb11	A	G	16: 55,811,371 (GRCm39)	N510D	probably benign	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
IGL01902:Polr1a	APN	6	71,940,732 (GRCm39)	missense	probably damaging	1.00
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

2014-02-04