Mutagenetix > Incidental Mutation

Incidental Mutation 'R6892:Polr1a'

538101

Institutional Source

Beutler Lab

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

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

MMRRC Submission

044986-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6892 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 71941696 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 1068 (D1068V)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055296
AA Change: D1068V

PolyPhen 2 Score 0.721 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: D1068V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

96% (54/56)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930442H23Rik	C	A	10: 81,018,978 (GRCm39)		probably benign	Het
4933421I07Rik	T	C	7: 42,095,831 (GRCm39)	Q139R	probably benign	Het
A930002H24Rik	C	T	17: 64,170,759 (GRCm39)	V10M	unknown	Het
Acvr2a	T	A	2: 48,787,087 (GRCm39)	L394Q	probably damaging	Het
Ano6	T	C	15: 95,865,505 (GRCm39)	Y830H	probably damaging	Het
Atp8b4	T	A	2: 126,184,922 (GRCm39)	I914F	possibly damaging	Het
Bltp3b	G	A	10: 89,640,985 (GRCm39)	V719I	probably benign	Het
Cab39	A	G	1: 85,776,098 (GRCm39)	D265G	probably damaging	Het
Capn5	A	T	7: 97,785,148 (GRCm39)	W109R	probably damaging	Het
Cdk18	G	T	1: 132,049,848 (GRCm39)	T44K	probably benign	Het
Cdt1	T	A	8: 123,296,951 (GRCm39)	N248K	probably damaging	Het
Cpa4	G	T	6: 30,583,628 (GRCm39)	R248L	probably benign	Het
Cpt1a	G	A	19: 3,421,660 (GRCm39)	V481M	probably benign	Het
Cyp3a11	G	A	5: 145,797,258 (GRCm39)	L374F	probably damaging	Het
Dcdc2a	A	G	13: 25,240,443 (GRCm39)	N64D	probably damaging	Het
Dmxl1	G	A	18: 50,053,969 (GRCm39)	R2525Q	probably damaging	Het
Dscaml1	G	A	9: 45,595,128 (GRCm39)	V744M	probably damaging	Het
Dync1h1	G	A	12: 110,605,335 (GRCm39)	E2391K	probably benign	Het
Ezh1	A	T	11: 101,090,187 (GRCm39)	Y522*	probably null	Het
Fzd3	G	C	14: 65,447,330 (GRCm39)	A533G	possibly damaging	Het
Gm14403	T	G	2: 177,201,040 (GRCm39)	C329G	probably damaging	Het
Gm17067	A	C	7: 42,360,099 (GRCm39)		probably null	Het
Gm38119	A	G	3: 92,645,529 (GRCm39)	C22R	unknown	Het
Grep1	A	G	17: 23,931,328 (GRCm39)	L193P	probably damaging	Het
Gtf3c3	A	G	1: 54,455,100 (GRCm39)	S588P	probably benign	Het
Ift140	A	G	17: 25,239,520 (GRCm39)	E59G	possibly damaging	Het
Ints1	A	T	5: 139,753,583 (GRCm39)	M683K	probably damaging	Het
Iws1	A	G	18: 32,219,327 (GRCm39)	M470V	probably damaging	Het
Mptx1	A	G	1: 174,159,831 (GRCm39)	R46G	probably benign	Het
Nhsl1	C	T	10: 18,400,091 (GRCm39)	T439I	probably damaging	Het
Or10a49	A	G	7: 108,467,722 (GRCm39)	L213P	probably damaging	Het
Peg3	C	T	7: 6,711,898 (GRCm39)	S1108N	possibly damaging	Het
Pgm1	A	G	4: 99,786,905 (GRCm39)	E48G	probably benign	Het
Pkhd1	G	A	1: 20,593,739 (GRCm39)	T1458I	probably damaging	Het
Ptprq	T	C	10: 107,411,865 (GRCm39)	T1834A	probably benign	Het
Rapgef1	T	C	2: 29,589,852 (GRCm39)		probably null	Het
Rgl1	A	T	1: 152,415,691 (GRCm39)	D409E	probably benign	Het
Rgsl1	G	T	1: 153,697,245 (GRCm39)	Y558*	probably null	Het
Rock1	C	T	18: 10,122,612 (GRCm39)	R403H	probably benign	Het
Scn11a	T	A	9: 119,636,035 (GRCm39)	D304V	possibly damaging	Het
Sdk1	A	T	5: 142,032,053 (GRCm39)	I1043F	probably benign	Het
Sgms2	A	G	3: 131,135,803 (GRCm39)	Y24H	probably benign	Het
Sppl2a	A	G	2: 126,755,495 (GRCm39)	I372T	probably damaging	Het
Sptbn1	A	G	11: 30,092,187 (GRCm39)	M526T	probably benign	Het
Stxbp5l	A	T	16: 37,008,991 (GRCm39)	S683T	possibly damaging	Het
Syk	A	T	13: 52,786,934 (GRCm39)	R332S	probably benign	Het
Syne2	T	A	12: 76,009,302 (GRCm39)	V2401E	probably damaging	Het
Tarm1	T	C	7: 3,546,006 (GRCm39)	Y87C	probably damaging	Het
Tbc1d22b	A	G	17: 29,814,864 (GRCm39)	K378E	possibly damaging	Het
Tcte1	A	G	17: 45,844,083 (GRCm39)	T20A	probably benign	Het
Tor1aip2	A	T	1: 155,940,927 (GRCm39)	Y411F	possibly damaging	Het
Trim43c	T	A	9: 88,726,977 (GRCm39)	M267K	probably benign	Het
Ubr2	T	G	17: 47,245,034 (GRCm39)	Y1664S	probably damaging	Het
Vmn1r41	C	A	6: 89,724,163 (GRCm39)	Q235K	possibly damaging	Het
Wdr17	T	C	8: 55,126,631 (GRCm39)	T401A	probably damaging	Het
Zfp454	A	G	11: 50,764,025 (GRCm39)	L469P	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGGGTGTTTGTTCCTTCC -3'
(R):5'- AGGGAGCAGCTCTTATCCTTC -3'

Sequencing Primer
(F):5'- TCCTTCCAGGCAGTGATCTGG -3'
(R):5'- ACACGCTAGGCACTGTGGAC -3'

Posted On

2018-11-06