Mutagenetix > Incidental Mutation

Incidental Mutation 'R7835:Polr1a'

605909

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

045889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7835 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 71892126 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 135 (V135A)

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: V135A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: V135A

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

probably benign
Transcript: ENSMUST00000206556
AA Change: V135A

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (48/49)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	T	A	7: 78,749,623 (GRCm39)	S1465T	probably benign	Het
Accsl	T	A	2: 93,696,329 (GRCm39)	K90*	probably null	Het
Adamts3	A	T	5: 89,848,299 (GRCm39)	D674E	possibly damaging	Het
Adap2	T	A	11: 80,051,057 (GRCm39)	V129D	probably benign	Het
Ank3	A	G	10: 69,823,557 (GRCm39)	D742G		Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cachd1	G	T	4: 100,831,350 (GRCm39)		probably null	Het
Ccne1	G	T	7: 37,802,270 (GRCm39)	Q133K	probably benign	Het
Cers3	C	T	7: 66,423,387 (GRCm39)	H111Y	possibly damaging	Het
Chst5	A	T	8: 112,617,234 (GRCm39)	L129M	probably damaging	Het
Depdc7	A	G	2: 104,558,530 (GRCm39)	S164P	probably benign	Het
Dnah10	G	A	5: 124,854,298 (GRCm39)	A1966T	probably damaging	Het
Fcgbp	T	G	7: 27,816,632 (GRCm39)	S2365A	possibly damaging	Het
Ihh	A	G	1: 74,985,525 (GRCm39)	V320A	probably damaging	Het
Kdm5d	T	C	Y: 900,558 (GRCm39)	V201A	possibly damaging	Het
Kif13b	T	A	14: 65,004,901 (GRCm39)	H1117Q	probably benign	Het
Lcn8	C	A	2: 25,545,308 (GRCm39)		probably null	Het
Lrp4	T	C	2: 91,325,387 (GRCm39)	V1404A	possibly damaging	Het
Lrrc61	A	T	6: 48,545,506 (GRCm39)	T110S	probably benign	Het
Mrpl19	G	A	6: 81,939,107 (GRCm39)	R232C	probably damaging	Het
Muc5ac	G	C	7: 141,363,040 (GRCm39)	G2117A	unknown	Het
Mzt1	T	C	14: 99,283,439 (GRCm39)	T21A	probably benign	Het
Naip6	G	T	13: 100,452,512 (GRCm39)	A183E	probably benign	Het
Neb	T	C	2: 52,040,589 (GRCm39)	D6624G	probably benign	Het
Nup85	A	G	11: 115,460,897 (GRCm39)	D183G	probably benign	Het
Olfm5	A	T	7: 103,803,652 (GRCm39)	Y195*	probably null	Het
Or7g16	T	A	9: 18,727,105 (GRCm39)	M162L	probably benign	Het
Piezo2	A	T	18: 63,216,016 (GRCm39)	F1216I	probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Ppcdc	A	G	9: 57,327,559 (GRCm39)	S83P	probably benign	Het
Prss21	A	T	17: 24,088,425 (GRCm39)	Q130L	possibly damaging	Het
Rdx	T	A	9: 51,977,088 (GRCm39)	N112K	probably damaging	Het
Rgs22	A	G	15: 36,082,057 (GRCm39)		probably null	Het
Rps23rg1	A	G	8: 3,630,452 (GRCm39)		probably benign	Het
Rps26	C	T	10: 128,461,995 (GRCm39)	V40I	probably benign	Het
Runx2	A	T	17: 44,919,123 (GRCm39)	M405K	probably damaging	Het
Serinc2	A	C	4: 130,169,280 (GRCm39)	C4G	unknown	Het
Sh3rf2	C	A	18: 42,244,235 (GRCm39)	R266S	probably benign	Het
Slc38a10	A	G	11: 120,007,822 (GRCm39)	I386T	possibly damaging	Het
Stab2	G	A	10: 86,708,483 (GRCm39)	P1694L	probably benign	Het
Taf4	G	A	2: 179,573,822 (GRCm39)	T682M	probably damaging	Het
Tasor	G	T	14: 27,198,600 (GRCm39)	G1311C	probably damaging	Het
Tmem102	A	G	11: 69,695,171 (GRCm39)	V267A	probably damaging	Het
Trim65	A	G	11: 116,021,755 (GRCm39)	L26P	probably damaging	Het
Vmn1r160	T	A	7: 22,571,379 (GRCm39)	M244K	possibly damaging	Het
Vmn1r57	A	T	7: 5,224,138 (GRCm39)	H221L	probably benign	Het
Wdr89	C	A	12: 75,679,673 (GRCm39)	V194F	probably damaging	Het
Wee1	C	A	7: 109,730,085 (GRCm39)	Y396*	probably null	Het
Zfp451	A	T	1: 33,812,060 (GRCm39)	V885D	probably damaging	Het
Zfp981	A	T	4: 146,622,333 (GRCm39)	Q419H	probably benign	Het
Znfx1	A	G	2: 166,881,747 (GRCm39)	Y1081H	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
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
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'- GCACTGAAAATCACCACGGTG -3'
(R):5'- GGAAGATTACATGTACACTGTCAC -3'

Sequencing Primer
(F):5'- TGAAAATCACCACGGTGTCTCTG -3'
(R):5'- AGATTACATGTACACTGTCACCTGCC -3'

Posted On

2019-12-20