Mutagenetix > Incidental Mutation

Incidental Mutation 'R9088:Polr1a'

690755

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

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9088 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71908767 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 531 (T531A)

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: T531A

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: T531A

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

Coding Region Coverage

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

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ak9	A	G	10: 41,282,870 (GRCm39)	Y1212C		Het
Asah2	T	C	19: 32,030,360 (GRCm39)	Q104R	probably damaging	Het
Bnipl	T	A	3: 95,158,295 (GRCm39)	R9*	probably null	Het
Bpifa3	A	C	2: 153,975,685 (GRCm39)	N85T	possibly damaging	Het
C6	T	C	15: 4,792,956 (GRCm39)	Y354H	probably damaging	Het
Caln1	A	T	5: 130,443,617 (GRCm39)		probably benign	Het
Capn3	T	C	2: 120,321,451 (GRCm39)	F378L	probably benign	Het
Car6	T	C	4: 150,281,806 (GRCm39)	H125R	probably damaging	Het
Ccdc110	G	A	8: 46,394,882 (GRCm39)	E258K	probably damaging	Het
Cep295	C	A	9: 15,233,815 (GRCm39)	R2327L	probably benign	Het
Col14a1	T	A	15: 55,226,923 (GRCm39)	D224E	unknown	Het
Col16a1	T	A	4: 129,971,016 (GRCm39)	S938T	unknown	Het
Col4a2	A	G	8: 11,493,227 (GRCm39)	E1340G	possibly damaging	Het
Col6a6	C	T	9: 105,661,276 (GRCm39)	V278M	probably damaging	Het
Crybg2	T	A	4: 133,799,890 (GRCm39)	L41Q	probably damaging	Het
Ctss	A	T	3: 95,436,867 (GRCm39)	D50V	possibly damaging	Het
Ddx56	C	T	11: 6,209,612 (GRCm39)	A500T	probably benign	Het
Dmbt1	T	C	7: 130,718,418 (GRCm39)	V1713A	unknown	Het
Dnah1	T	C	14: 30,987,970 (GRCm39)	I3483V	probably benign	Het
E130308A19Rik	T	A	4: 59,737,594 (GRCm39)	F402I	probably benign	Het
Eml6	A	T	11: 29,768,424 (GRCm39)	H754Q	probably damaging	Het
Ern2	A	G	7: 121,772,890 (GRCm39)	Y576H	probably damaging	Het
Fat4	T	C	3: 39,061,448 (GRCm39)	S4344P	probably benign	Het
Fbxo40	A	G	16: 36,790,150 (GRCm39)	I320T		Het
Fbxw22	C	T	9: 109,207,952 (GRCm39)	D440N	probably damaging	Het
Fgd2	A	G	17: 29,583,913 (GRCm39)	E109G	probably damaging	Het
Gm19410	A	T	8: 36,240,766 (GRCm39)	D214V	probably damaging	Het
Hivep2	T	C	10: 14,006,995 (GRCm39)	Y1198H	probably damaging	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Lrrc37	T	C	11: 103,511,762 (GRCm39)	K69E	unknown	Het
Lrrc8e	G	A	8: 4,284,410 (GRCm39)	V212M	probably damaging	Het
Map2	A	T	1: 66,453,773 (GRCm39)	S888C	probably damaging	Het
Met	G	T	6: 17,548,715 (GRCm39)	G920*	probably null	Het
Mlkl	G	T	8: 112,049,365 (GRCm39)	R253S		Het
Mmachc	T	A	4: 116,561,829 (GRCm39)	I102F	probably damaging	Het
Mnt	G	T	11: 74,733,880 (GRCm39)	V504L	unknown	Het
Mup14	C	T	4: 61,258,496 (GRCm39)	G96D	probably damaging	Het
Myh13	G	A	11: 67,242,885 (GRCm39)	E933K	probably damaging	Het
Ncoa6	A	G	2: 155,249,726 (GRCm39)	S1193P	probably damaging	Het
Nek10	T	C	14: 14,931,314 (GRCm38)	I762T	probably damaging	Het
Nmur1	G	T	1: 86,315,252 (GRCm39)	F204L	probably benign	Het
Or1ak2	A	G	2: 36,827,988 (GRCm39)	N286D	probably damaging	Het
Or52e15	G	T	7: 104,645,301 (GRCm39)	P270Q	probably damaging	Het
Or8a1	T	A	9: 37,641,806 (GRCm39)	I158F	probably damaging	Het
Pappa2	T	C	1: 158,763,927 (GRCm39)	Y528C	probably damaging	Het
Patl1	T	C	19: 11,920,289 (GRCm39)	S748P	possibly damaging	Het
Peg10	C	CTCA	6: 4,756,453 (GRCm39)		probably benign	Het
Slit3	C	T	11: 35,012,463 (GRCm39)	S41F	possibly damaging	Het
Snap29	A	G	16: 17,246,058 (GRCm39)	Q226R	probably damaging	Het
Spmip2	G	A	3: 79,337,429 (GRCm39)	G185D	probably damaging	Het
Tmpo	A	G	10: 90,989,138 (GRCm39)		probably null	Het
Tnfrsf21	G	A	17: 43,348,607 (GRCm39)	G73E	probably damaging	Het
Tsc1	T	A	2: 28,552,617 (GRCm39)	C119S	possibly damaging	Het
Uox	A	G	3: 146,330,369 (GRCm39)	Y199C	probably damaging	Het
Vav2	T	C	2: 27,187,708 (GRCm39)	D231G	possibly damaging	Het
Vmn2r80	A	T	10: 79,005,378 (GRCm39)	K338N	probably benign	Het
Xylt2	G	A	11: 94,561,229 (GRCm39)	T178I	probably benign	Het
Zfp931	G	T	2: 177,709,594 (GRCm39)	T264K	probably damaging	Het
Zgrf1	A	G	3: 127,377,326 (GRCm39)	D857G	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
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
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
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'- TGACTTACCCTCAGCCAGTTAC -3'
(R):5'- GCCAATCCCAGAGATGCTATG -3'

Sequencing Primer
(F):5'- AGTTACCCCCTGGAACGTG -3'
(R):5'- GTGAGGACCCTGATCAACTTC -3'

Posted On

2021-12-30