Mutagenetix > Incidental Mutation

Incidental Mutation 'R1903:Polr1a'

209931

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

039923-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1903 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

71886037-71956419 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 71944898 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 1318 (K1318R)

Ref Sequence

ENSEMBL: ENSMUSP00000060858 (fasta)

Gene Model

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

AlphaFold

O35134

Predicted Effect

probably benign
Transcript: ENSMUST00000055296
AA Change: K1318R

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

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: K1318R

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

unknown
Transcript: ENSMUST00000205517
AA Change: K343R

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.0%
20x: 91.8%

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: 120 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	A	C	9: 57,165,635 (GRCm39)	S246R	possibly damaging	Het
Abca13	C	T	11: 9,416,411 (GRCm39)	R4058C	probably benign	Het
Acacb	A	T	5: 114,303,795 (GRCm39)	R73*	probably null	Het
Adam22	C	T	5: 8,184,525 (GRCm39)	C489Y	probably damaging	Het
Agap3	A	T	5: 24,698,011 (GRCm39)	K460I	probably damaging	Het
Ak4	T	C	4: 101,320,833 (GRCm39)	I214T	possibly damaging	Het
Anpep	C	T	7: 79,488,004 (GRCm39)	E518K	probably benign	Het
Arrb2	T	A	11: 70,328,808 (GRCm39)	H221Q	probably damaging	Het
Atl1	T	G	12: 70,006,049 (GRCm39)	F452V	probably damaging	Het
Atp8b5	A	G	4: 43,357,063 (GRCm39)	T604A	probably damaging	Het
Bglap3	T	C	3: 88,276,068 (GRCm39)	I95V	probably benign	Het
Ccdc88a	G	T	11: 29,411,788 (GRCm39)	M532I	probably benign	Het
Ccnl1	A	G	3: 65,854,332 (GRCm39)	S430P	possibly damaging	Het
Cdhr18	C	T	14: 13,829,657 (GRCm38)	S695N	possibly damaging	Het
Cdk5rap2	A	T	4: 70,321,791 (GRCm39)		probably null	Het
Cep126	A	T	9: 8,120,748 (GRCm39)	Y92N	possibly damaging	Het
Cfap44	A	C	16: 44,242,737 (GRCm39)	T714P	probably benign	Het
Cnga1	T	G	5: 72,774,068 (GRCm39)	D90A	possibly damaging	Het
Cnot1	T	C	8: 96,469,749 (GRCm39)	I1369V	possibly damaging	Het
Coq3	T	C	4: 21,910,466 (GRCm39)	S314P	probably damaging	Het
Crhr1	A	G	11: 104,060,675 (GRCm39)	R151G	probably damaging	Het
Crybg2	A	G	4: 133,806,167 (GRCm39)	I930V	probably damaging	Het
Ctcf	T	A	8: 106,402,620 (GRCm39)		probably null	Het
Dct	T	C	14: 118,271,690 (GRCm39)	N380S	probably benign	Het
Decr2	A	T	17: 26,306,387 (GRCm39)	L83Q	probably damaging	Het
Depdc5	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT	5: 33,067,751 (GRCm39)		probably benign	Het
Dgkb	T	C	12: 38,216,776 (GRCm39)		probably null	Het
Dnah1	T	C	14: 31,041,716 (GRCm39)	D85G	probably damaging	Het
Dnah7a	T	C	1: 53,574,637 (GRCm39)	D1709G	probably damaging	Het
Dnajc13	A	C	9: 104,106,136 (GRCm39)	L346R	probably damaging	Het
Dsc1	A	T	18: 20,229,045 (GRCm39)	V415D	probably damaging	Het
Duox2	T	A	2: 122,125,832 (GRCm39)	I296F	probably damaging	Het
Ece2	T	A	16: 20,463,922 (GRCm39)	L890H	probably damaging	Het
Ecsit	A	G	9: 21,987,815 (GRCm39)	S75P	possibly damaging	Het
Enpp3	A	G	10: 24,654,687 (GRCm39)	C664R	probably damaging	Het
Evpl	G	T	11: 116,117,854 (GRCm39)	D778E	probably damaging	Het
Eya3	T	A	4: 132,448,663 (GRCm39)		probably null	Het
Fam217b	A	T	2: 178,062,374 (GRCm39)	I113F	probably benign	Het
Galnt6	G	A	15: 100,613,999 (GRCm39)	P101S	possibly damaging	Het
Gm379	G	A	X: 107,707,870 (GRCm39)	Q210*	probably null	Het
Grk4	A	T	5: 34,833,531 (GRCm39)		probably null	Het
Gtf3c4	A	G	2: 28,729,968 (GRCm39)	V91A	probably benign	Het
Hcfc2	G	T	10: 82,538,392 (GRCm39)	G143V	probably damaging	Het
Heatr4	A	C	12: 84,005,221 (GRCm39)	H710Q	probably damaging	Het
Htr3a	A	T	9: 48,817,681 (GRCm39)	D97E	probably damaging	Het
Htr4	T	G	18: 62,561,193 (GRCm39)	F151L	probably benign	Het
Il22ra1	A	T	4: 135,478,219 (GRCm39)	Q430L	probably damaging	Het
Invs	T	A	4: 48,402,824 (GRCm39)		probably null	Het
Ip6k1	G	A	9: 107,918,195 (GRCm39)	E77K	possibly damaging	Het
Irs1	T	C	1: 82,267,182 (GRCm39)	S345G	probably damaging	Het
Kdm4a	A	G	4: 118,017,596 (GRCm39)	V490A	probably benign	Het
Kif26a	C	T	12: 112,141,974 (GRCm39)	R743C	probably damaging	Het
Kif28	A	G	1: 179,530,088 (GRCm39)	V691A	possibly damaging	Het
Klhl5	T	A	5: 65,324,330 (GRCm39)	L696Q	probably benign	Het
Krtap5-1	T	C	7: 141,850,084 (GRCm39)		probably benign	Het
Lama2	A	C	10: 27,064,395 (GRCm39)	D1195E	probably damaging	Het
Lamb1	T	G	12: 31,379,209 (GRCm39)	L1722R	probably damaging	Het
Lrp11	T	A	10: 7,499,544 (GRCm39)	L245Q	probably damaging	Het
Ltbp2	T	C	12: 84,876,879 (GRCm39)	E422G	probably benign	Het
Man2b1	T	A	8: 85,813,451 (GRCm39)	D214E	probably damaging	Het
Mlxipl	A	T	5: 135,162,422 (GRCm39)	D628V	possibly damaging	Het
Msantd5f6	T	A	4: 73,321,675 (GRCm39)	Y120F	probably damaging	Het
Myo18b	G	A	5: 112,840,624 (GRCm39)	R2390C	probably damaging	Het
Mypn	T	A	10: 62,959,176 (GRCm39)	R1048S	probably benign	Het
Napepld	A	G	5: 21,870,270 (GRCm39)	S383P	probably damaging	Het
Napsa	A	G	7: 44,231,160 (GRCm39)	T130A	probably damaging	Het
Nbr1	T	C	11: 101,465,978 (GRCm39)	I716T	probably damaging	Het
Nexn	A	T	3: 151,953,818 (GRCm39)	M212K	probably damaging	Het
Nlrp9b	T	A	7: 19,757,182 (GRCm39)	S140T	probably benign	Het
Nxpe2	T	C	9: 48,230,906 (GRCm39)	T488A	probably benign	Het
Or10g3	T	G	14: 52,610,174 (GRCm39)	Q112P	possibly damaging	Het
Or10v1	A	T	19: 11,873,913 (GRCm39)	Y176F	probably benign	Het
Or5ac25	A	T	16: 59,182,526 (GRCm39)	D18E	probably benign	Het
Or7g12	A	T	9: 18,900,192 (GRCm39)	K303*	probably null	Het
Or8k20	C	T	2: 86,106,190 (GRCm39)	V214I	probably benign	Het
Osbpl5	T	C	7: 143,256,918 (GRCm39)	D404G	possibly damaging	Het
Pan2	T	G	10: 128,144,237 (GRCm39)	L162R	probably damaging	Het
Parp1	G	T	1: 180,416,235 (GRCm39)	V545F	probably damaging	Het
Pcdh18	A	G	3: 49,709,896 (GRCm39)	V473A	probably benign	Het
Plb1	A	T	5: 32,448,582 (GRCm39)	N350I	probably damaging	Het
Ppp1r18	C	T	17: 36,184,738 (GRCm39)	P130S	probably damaging	Het
Prss48	C	T	3: 85,905,614 (GRCm39)	W86*	probably null	Het
Rab3c	A	T	13: 110,220,744 (GRCm39)	I137N	probably damaging	Het
Rab3gap2	G	C	1: 184,954,099 (GRCm39)	R57P	probably benign	Het
Rad54l2	A	C	9: 106,570,916 (GRCm39)		probably null	Het
Ralgapb	C	A	2: 158,337,483 (GRCm39)	N1147K	probably benign	Het
Rfx7	C	T	9: 72,524,093 (GRCm39)	R428C	probably damaging	Het
Robo1	A	G	16: 72,757,092 (GRCm39)	Q351R	probably null	Het
Samd4	T	C	14: 47,311,585 (GRCm39)	F81S	probably damaging	Het
Shprh	T	A	10: 11,059,541 (GRCm39)	Y1097*	probably null	Het
Sik3	C	G	9: 46,132,387 (GRCm39)	H1276Q	probably benign	Het
Slc24a4	T	A	12: 102,097,876 (GRCm39)	D79E	probably benign	Het
Slc7a13	A	T	4: 19,839,254 (GRCm39)	I286F	probably benign	Het
Smarca1	G	A	X: 46,938,840 (GRCm39)	Q723*	probably null	Het
Spata31d1b	T	C	13: 59,865,882 (GRCm39)	L1010P	probably damaging	Het
Sult2a1	T	C	7: 13,569,900 (GRCm39)	S111G	possibly damaging	Het
Tecpr2	C	T	12: 110,914,346 (GRCm39)	T1219M	probably damaging	Het
Tesk1	T	C	4: 43,446,998 (GRCm39)	M462T	probably benign	Het
Thoc2l	T	A	5: 104,666,196 (GRCm39)	S239R	probably benign	Het
Tmem171	C	A	13: 98,822,924 (GRCm39)	G292*	probably null	Het
Tmtc2	G	T	10: 105,025,969 (GRCm39)	T833N	probably benign	Het
Tnc	G	T	4: 63,918,299 (GRCm39)	T1204K	probably benign	Het
Tnfaip3	T	C	10: 18,883,937 (GRCm39)	K148E	probably benign	Het
Tnrc18	G	A	5: 142,800,895 (GRCm39)	S21F	probably damaging	Het
Tns4	T	C	11: 98,966,401 (GRCm39)	T425A	probably damaging	Het
Tox	T	A	4: 6,688,948 (GRCm39)	Y472F	probably damaging	Het
Trak2	A	T	1: 58,958,014 (GRCm39)		probably null	Het
Trim33	T	A	3: 103,244,760 (GRCm39)	Y716N	probably damaging	Het
Trrap	T	G	5: 144,752,863 (GRCm39)	I1813R	probably damaging	Het
Ttc29	A	G	8: 78,978,361 (GRCm39)	E137G	probably benign	Het
Ube2j2	A	G	4: 156,033,483 (GRCm39)	K19R	probably benign	Het
Ubxn2b	T	C	4: 6,208,889 (GRCm39)	I206T	possibly damaging	Het
Usp40	A	G	1: 87,909,778 (GRCm39)	F559L	probably benign	Het
Utp4	T	A	8: 107,638,982 (GRCm39)		probably null	Het
Vac14	A	G	8: 111,409,166 (GRCm39)	N524S	probably benign	Het
Vps13c	T	C	9: 67,801,334 (GRCm39)	S605P	probably damaging	Het
Vwa5b2	G	T	16: 20,423,582 (GRCm39)	S1165I	possibly damaging	Het
Zdhhc19	C	T	16: 32,317,231 (GRCm39)	R28*	probably null	Het
Zfp106	T	C	2: 120,357,329 (GRCm39)	I1189V	probably benign	Het
Zfp189	C	T	4: 49,529,511 (GRCm39)	Q205*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- AGCTTACTAGGGTGTCTGCAG -3'
(R):5'- ATCCATATTAGGTGGTGGGGCC -3'

Sequencing Primer
(F):5'- CTTACTAGGGTGTCTGCAGTTTGG -3'
(R):5'- GGGCCTACTGTCCTCTGAAACAC -3'

Posted On

2014-06-30