Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01363:Polr1a'

75818

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Polr1a

Ensembl Gene

ENSMUSG00000049553

Gene Name

polymerase (RNA) I polypeptide A

Synonyms

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

Accession Numbers

Genbank: NM_009088; MGI: 1096397

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01363

Quality Score

Status

Chromosome

Chromosomal Location

71909053-71984935 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 71948486 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 739 (M739K)

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: M739K

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060858
Gene: ENSMUSG00000049553
AA Change: M739K

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: M42K

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	A	G	4: 124,610,690 (GRCm38)	F23S	probably damaging	Het
A730017C20Rik	G	A	18: 59,072,308 (GRCm38)	G98D	probably damaging	Het
Abcg3	A	G	5: 104,948,362 (GRCm38)	V528A	possibly damaging	Het
Adgrv1	A	G	13: 81,557,065 (GRCm38)	V1542A	probably damaging	Het
Alkbh3	A	G	2: 94,003,051 (GRCm38)		probably null	Het
Ang4	G	T	14: 51,764,179 (GRCm38)	T104K	probably benign	Het
Arhgef3	T	A	14: 27,401,919 (GRCm38)	C532*	probably null	Het
Bnip3	G	A	7: 138,898,048 (GRCm38)	T70I	probably benign	Het
Cast	T	C	13: 74,704,192 (GRCm38)	E644G	possibly damaging	Het
Cenpc1	A	T	5: 86,046,531 (GRCm38)	C125*	probably null	Het
Crb2	C	A	2: 37,793,833 (GRCm38)	R1116S	probably benign	Het
Cyp2c67	T	G	19: 39,639,967 (GRCm38)	I178L	probably damaging	Het
Cyp2c68	T	A	19: 39,703,427 (GRCm38)	M351L	probably benign	Het
Dusp1	G	A	17: 26,506,290 (GRCm38)	P365L	probably damaging	Het
Gatb	T	C	3: 85,652,345 (GRCm38)	L492P	probably damaging	Het
Gm13103	A	T	4: 143,853,276 (GRCm38)	Y477F	probably benign	Het
Igkv8-19	T	C	6: 70,341,099 (GRCm38)	S48G	probably damaging	Het
Isyna1	G	A	8: 70,594,722 (GRCm38)	V32I	probably damaging	Het
Itgb6	T	A	2: 60,611,382 (GRCm38)	N695Y	possibly damaging	Het
Klra8	T	C	6: 130,115,598 (GRCm38)	T247A	probably benign	Het
Mak	G	A	13: 41,053,377 (GRCm38)		probably benign	Het
Mndal	T	A	1: 173,857,456 (GRCm38)	T516S	possibly damaging	Het
Mphosph9	G	T	5: 124,262,021 (GRCm38)	T939K	probably damaging	Het
Nfrkb	A	G	9: 31,414,371 (GRCm38)	T1037A	possibly damaging	Het
Olfr165	C	T	16: 19,407,583 (GRCm38)	M145I	probably benign	Het
Olfr25	A	G	9: 38,329,703 (GRCm38)	T39A	probably benign	Het
Pard3b	A	G	1: 62,637,640 (GRCm38)	Y1011C	probably damaging	Het
Parm1	G	A	5: 91,613,018 (GRCm38)	V250M	probably damaging	Het
Pgap2	T	G	7: 102,226,282 (GRCm38)	M1R	probably null	Het
Phlpp2	T	C	8: 109,937,097 (GRCm38)	F923L	probably benign	Het
Pramel1	A	G	4: 143,397,385 (GRCm38)	Y210C	probably benign	Het
Raver2	A	G	4: 101,120,583 (GRCm38)		probably benign	Het
Rb1cc1	C	T	1: 6,250,109 (GRCm38)	L1251F	probably benign	Het
Ros1	T	A	10: 52,166,142 (GRCm38)	Y238F	probably damaging	Het
Shroom3	T	C	5: 92,940,993 (GRCm38)	L534P	probably benign	Het
Tjp1	A	T	7: 65,302,965 (GRCm38)	F1540L	possibly damaging	Het
Tmem200b	C	A	4: 131,922,393 (GRCm38)	P208Q	probably benign	Het
Tmem236	T	C	2: 14,174,630 (GRCm38)	L14P	probably damaging	Het
Tubgcp6	A	T	15: 89,107,525 (GRCm38)	I623N	probably damaging	Het
Vmn1r119	C	T	7: 21,012,131 (GRCm38)	V109I	probably benign	Het
Vmn2r98	A	G	17: 19,065,758 (GRCm38)	N173D	probably benign	Het

Other mutations in Polr1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Polr1a	APN	6	71,948,462 (GRCm38)	missense	probably benign
IGL01902:Polr1a	APN	6	71,963,748 (GRCm38)	missense	probably damaging	1.00
IGL02101:Polr1a	APN	6	71,950,802 (GRCm38)	missense	probably benign	0.00
IGL02325:Polr1a	APN	6	71,920,657 (GRCm38)	missense	probably benign	0.38
IGL02398:Polr1a	APN	6	71,936,556 (GRCm38)	splice site	probably benign
IGL02528:Polr1a	APN	6	71,964,717 (GRCm38)	missense	probably benign
IGL02555:Polr1a	APN	6	71,920,457 (GRCm38)	missense	probably damaging	0.98
IGL02613:Polr1a	APN	6	71,967,320 (GRCm38)	missense	probably damaging	1.00
IGL02693:Polr1a	APN	6	71,963,846 (GRCm38)	splice site	probably benign
IGL02892:Polr1a	APN	6	71,931,696 (GRCm38)	missense	possibly damaging	0.70
IGL03059:Polr1a	APN	6	71,936,512 (GRCm38)	missense	probably benign
IGL03174:Polr1a	APN	6	71,977,347 (GRCm38)	missense	possibly damaging	0.82
D4043:Polr1a	UTSW	6	71,941,417 (GRCm38)	missense	possibly damaging	0.92
R0092:Polr1a	UTSW	6	71,967,455 (GRCm38)	splice site	probably benign
R0217:Polr1a	UTSW	6	71,963,703 (GRCm38)	missense	probably benign	0.19
R0267:Polr1a	UTSW	6	71,974,139 (GRCm38)	missense	probably damaging	0.99
R0329:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0330:Polr1a	UTSW	6	71,966,416 (GRCm38)	missense	possibly damaging	0.96
R0352:Polr1a	UTSW	6	71,920,763 (GRCm38)	splice site	probably benign
R0411:Polr1a	UTSW	6	71,978,421 (GRCm38)	missense	possibly damaging	0.95
R0446:Polr1a	UTSW	6	71,950,664 (GRCm38)	critical splice donor site	probably null
R0846:Polr1a	UTSW	6	71,924,643 (GRCm38)	missense	probably damaging	1.00
R1035:Polr1a	UTSW	6	71,967,916 (GRCm38)	missense	probably benign
R1294:Polr1a	UTSW	6	71,912,902 (GRCm38)	missense	probably damaging	0.99
R1460:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R1657:Polr1a	UTSW	6	71,941,535 (GRCm38)	missense	probably damaging	1.00
R1846:Polr1a	UTSW	6	71,976,188 (GRCm38)	missense	probably damaging	0.98
R1862:Polr1a	UTSW	6	71,909,203 (GRCm38)	missense	probably damaging	0.96
R1865:Polr1a	UTSW	6	71,966,524 (GRCm38)	missense	probably damaging	1.00
R1903:Polr1a	UTSW	6	71,967,914 (GRCm38)	missense	probably benign	0.02
R1937:Polr1a	UTSW	6	71,936,552 (GRCm38)	critical splice donor site	probably null
R2063:Polr1a	UTSW	6	71,936,285 (GRCm38)	splice site	probably null
R2071:Polr1a	UTSW	6	71,976,074 (GRCm38)	missense	possibly damaging	0.64
R2084:Polr1a	UTSW	6	71,950,809 (GRCm38)	missense	possibly damaging	0.69
R2377:Polr1a	UTSW	6	71,972,826 (GRCm38)	critical splice donor site	probably null
R2410:Polr1a	UTSW	6	71,974,882 (GRCm38)	missense	probably benign
R3001:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3001:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,965,644 (GRCm38)	missense	probably benign	0.02
R3002:Polr1a	UTSW	6	71,913,016 (GRCm38)	missense	probably benign	0.01
R3924:Polr1a	UTSW	6	71,929,450 (GRCm38)	missense	probably benign	0.00
R4105:Polr1a	UTSW	6	71,976,191 (GRCm38)	missense	probably damaging	0.98
R4125:Polr1a	UTSW	6	71,965,706 (GRCm38)	missense	probably benign	0.00
R4271:Polr1a	UTSW	6	71,953,022 (GRCm38)	missense	probably benign	0.02
R4440:Polr1a	UTSW	6	71,950,848 (GRCm38)	missense	probably damaging	0.98
R4667:Polr1a	UTSW	6	71,917,821 (GRCm38)	missense	probably benign	0.30
R4769:Polr1a	UTSW	6	71,950,868 (GRCm38)	missense	probably benign	0.01
R4801:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4802:Polr1a	UTSW	6	71,976,070 (GRCm38)	missense	probably benign	0.00
R4828:Polr1a	UTSW	6	71,966,401 (GRCm38)	missense	possibly damaging	0.93
R4911:Polr1a	UTSW	6	71,909,229 (GRCm38)	missense	possibly damaging	0.67
R5071:Polr1a	UTSW	6	71,931,709 (GRCm38)	missense	possibly damaging	0.71
R5165:Polr1a	UTSW	6	71,967,925 (GRCm38)	missense	probably damaging	1.00
R5223:Polr1a	UTSW	6	71,967,907 (GRCm38)	missense	possibly damaging	0.73
R5239:Polr1a	UTSW	6	71,913,037 (GRCm38)	missense	probably damaging	1.00
R5546:Polr1a	UTSW	6	71,929,366 (GRCm38)	missense	possibly damaging	0.64
R5599:Polr1a	UTSW	6	71,967,362 (GRCm38)	missense	possibly damaging	0.95
R5696:Polr1a	UTSW	6	71,929,426 (GRCm38)	missense	probably benign	0.05
R5850:Polr1a	UTSW	6	71,926,683 (GRCm38)	missense	probably benign	0.00
R6274:Polr1a	UTSW	6	71,954,890 (GRCm38)	splice site	probably null
R6526:Polr1a	UTSW	6	71,929,443 (GRCm38)	missense	possibly damaging	0.89
R6578:Polr1a	UTSW	6	71,976,041 (GRCm38)	missense	possibly damaging	0.93
R6660:Polr1a	UTSW	6	71,967,374 (GRCm38)	missense	probably damaging	0.98
R6892:Polr1a	UTSW	6	71,964,712 (GRCm38)	missense	possibly damaging	0.72
R7274:Polr1a	UTSW	6	71,920,516 (GRCm38)	nonsense	probably null
R7291:Polr1a	UTSW	6	71,941,456 (GRCm38)	missense	probably benign	0.02
R7311:Polr1a	UTSW	6	71,950,879 (GRCm38)	missense	possibly damaging	0.53
R7431:Polr1a	UTSW	6	71,926,659 (GRCm38)	missense	probably benign	0.14
R7479:Polr1a	UTSW	6	71,936,297 (GRCm38)	missense	probably damaging	1.00
R7607:Polr1a	UTSW	6	71,913,021 (GRCm38)	missense	probably benign
R7739:Polr1a	UTSW	6	71,954,835 (GRCm38)	missense	possibly damaging	0.94
R7746:Polr1a	UTSW	6	71,941,512 (GRCm38)	missense	probably damaging	1.00
R7764:Polr1a	UTSW	6	71,953,070 (GRCm38)	missense	probably damaging	1.00
R7835:Polr1a	UTSW	6	71,915,142 (GRCm38)	missense	probably benign	0.02
R8029:Polr1a	UTSW	6	71,912,956 (GRCm38)	nonsense	probably null
R8057:Polr1a	UTSW	6	71,931,660 (GRCm38)	missense	possibly damaging	0.95
R8144:Polr1a	UTSW	6	71,950,616 (GRCm38)	missense	probably benign
R8170:Polr1a	UTSW	6	71,920,749 (GRCm38)	missense	probably benign
R8320:Polr1a	UTSW	6	71,941,384 (GRCm38)	missense	probably damaging	0.99
R8328:Polr1a	UTSW	6	71,920,734 (GRCm38)	missense	probably benign
R8331:Polr1a	UTSW	6	71,976,179 (GRCm38)	missense	probably damaging	1.00
R8362:Polr1a	UTSW	6	71,964,667 (GRCm38)	missense	probably benign	0.00
R8511:Polr1a	UTSW	6	71,920,520 (GRCm38)	missense	probably benign	0.01
R8709:Polr1a	UTSW	6	71,974,848 (GRCm38)	missense	probably benign
R8745:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R8784:Polr1a	UTSW	6	71,950,628 (GRCm38)	missense	probably benign
R9055:Polr1a	UTSW	6	71,915,069 (GRCm38)	missense	possibly damaging	0.46
R9088:Polr1a	UTSW	6	71,931,783 (GRCm38)	missense	probably benign	0.26
R9211:Polr1a	UTSW	6	71,966,537 (GRCm38)	missense	probably damaging	1.00
R9228:Polr1a	UTSW	6	71,954,771 (GRCm38)	missense	probably damaging	1.00
R9240:Polr1a	UTSW	6	71,963,677 (GRCm38)	nonsense	probably null
R9267:Polr1a	UTSW	6	71,965,558 (GRCm38)	missense	probably benign
R9302:Polr1a	UTSW	6	71,924,699 (GRCm38)	critical splice donor site	probably null
R9744:Polr1a	UTSW	6	71,929,388 (GRCm38)	missense	probably benign	0.05

Posted On

2013-10-07