Incidental Mutation 'R0457:Polr1c'
ID 41258
Institutional Source Beutler Lab
Gene Symbol Polr1c
Ensembl Gene ENSMUSG00000067148
Gene Name polymerase (RNA) I polypeptide C
Synonyms 40kDa, Rpo1-1, RPA40
MMRRC Submission 038657-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0457 (G1)
Quality Score 211
Status Not validated
Chromosome 17
Chromosomal Location 46554846-46558971 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 46558689 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Phenylalanine at position 36 (Y36F)
Ref Sequence ENSEMBL: ENSMUSP00000116998 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087026] [ENSMUST00000095263] [ENSMUST00000123311] [ENSMUST00000124655] [ENSMUST00000173349] [ENSMUST00000142706] [ENSMUST00000173232]
AlphaFold P52432
Predicted Effect probably benign
Transcript: ENSMUST00000087026
AA Change: Y36F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000084252
Gene: ENSMUSG00000067148
AA Change: Y36F

DomainStartEndE-ValueType
RPOLD 60 339 4.53e-124 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000095263
SMART Domains Protein: ENSMUSP00000092897
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
low complexity region 59 75 N/A INTRINSIC
transmembrane domain 146 168 N/A INTRINSIC
transmembrane domain 183 205 N/A INTRINSIC
transmembrane domain 212 234 N/A INTRINSIC
transmembrane domain 238 260 N/A INTRINSIC
transmembrane domain 272 294 N/A INTRINSIC
low complexity region 320 332 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000123311
SMART Domains Protein: ENSMUSP00000115951
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
transmembrane domain 51 73 N/A INTRINSIC
transmembrane domain 88 110 N/A INTRINSIC
transmembrane domain 117 139 N/A INTRINSIC
transmembrane domain 143 165 N/A INTRINSIC
transmembrane domain 177 199 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124126
Predicted Effect probably benign
Transcript: ENSMUST00000124655
SMART Domains Protein: ENSMUSP00000122026
Gene: ENSMUSG00000067148

DomainStartEndE-ValueType
RPOLD 1 253 2.14e-93 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000127378
SMART Domains Protein: ENSMUSP00000114937
Gene: ENSMUSG00000071074

DomainStartEndE-ValueType
Pfam:Yip1 30 178 4.6e-13 PFAM
low complexity region 189 201 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000173349
AA Change: Y36F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133861
Gene: ENSMUSG00000067148
AA Change: Y36F

DomainStartEndE-ValueType
RPOLD 42 170 2.3e-5 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142706
AA Change: Y36F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000116998
Gene: ENSMUSG00000067148
AA Change: Y36F

DomainStartEndE-ValueType
RPOLD 60 255 9.13e-47 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000173232
AA Change: Y36F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000133597
Gene: ENSMUSG00000067148
AA Change: Y36F

DomainStartEndE-ValueType
Pfam:RNA_pol_L 61 100 1.7e-11 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174392
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151488
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149989
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145371
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152583
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.4%
  • 20x: 92.9%
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 a subunit of both RNA polymerase I and RNA polymerase III complexes. The encoded protein is part of the Pol core element. Mutations in this gene have been associated with Treacher Collins syndrome (TCS) and hypomyelinating leukodystrophy 11. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jan 2016]
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm1 A G 3: 59,844,054 (GRCm39) I249M possibly damaging Het
Adcy5 T C 16: 35,094,915 (GRCm39) S691P probably benign Het
Ajm1 G T 2: 25,468,358 (GRCm39) R518S possibly damaging Het
Aspscr1 A G 11: 120,568,444 (GRCm39) E12G probably benign Het
Atp2a2 T C 5: 122,607,777 (GRCm39) Q244R probably benign Het
Birc6 A G 17: 74,959,023 (GRCm39) M3818V probably benign Het
Birc6 C T 17: 74,969,620 (GRCm39) A4230V probably damaging Het
Bub1b T C 2: 118,440,340 (GRCm39) F148S probably damaging Het
C1ra T C 6: 124,499,712 (GRCm39) S633P probably benign Het
Cacna2d1 A G 5: 16,472,414 (GRCm39) T274A probably damaging Het
Cmya5 A G 13: 93,232,095 (GRCm39) W998R possibly damaging Het
Crbn T C 6: 106,758,018 (GRCm39) K404R probably benign Het
Cryga T C 1: 65,142,204 (GRCm39) Y63C probably damaging Het
Csmd1 C A 8: 16,551,407 (GRCm39) probably null Het
Defa-ps1 A T 8: 22,185,758 (GRCm39) noncoding transcript Het
Dnajc10 T A 2: 80,175,290 (GRCm39) V559D possibly damaging Het
Dock1 A T 7: 134,739,874 (GRCm39) E1423D possibly damaging Het
Dpf3 A T 12: 83,319,179 (GRCm39) S44T probably damaging Het
Dyrk3 A T 1: 131,064,094 (GRCm39) V31D possibly damaging Het
F5 T C 1: 164,021,769 (GRCm39) S1415P probably benign Het
Fam186b A C 15: 99,169,166 (GRCm39) I927S probably benign Het
Fcho1 C T 8: 72,165,204 (GRCm39) A418T probably benign Het
Fer1l6 G A 15: 58,509,943 (GRCm39) probably null Het
Fndc7 G T 3: 108,783,861 (GRCm39) S249R probably benign Het
Ganab A G 19: 8,884,614 (GRCm39) E139G possibly damaging Het
Gbp5 A G 3: 142,213,518 (GRCm39) D478G probably damaging Het
Gm17324 T A 9: 78,355,580 (GRCm39) M1K probably null Het
Gtpbp6 T A 5: 110,254,608 (GRCm39) R126S probably damaging Het
Hapln4 G A 8: 70,541,122 (GRCm39) W385* probably null Het
Hmcn2 T A 2: 31,305,296 (GRCm39) probably null Het
Hsp90ab1 A G 17: 45,879,914 (GRCm39) V534A probably damaging Het
Kat6b C A 14: 21,720,598 (GRCm39) T1650K probably damaging Het
Kpna1 T A 16: 35,823,275 (GRCm39) D42E probably benign Het
Lrrc14b A G 13: 74,509,279 (GRCm39) M376T probably benign Het
Lrrc40 A G 3: 157,760,201 (GRCm39) probably null Het
Ltv1 T C 10: 13,067,887 (GRCm39) T34A probably benign Het
Mga T A 2: 119,746,969 (GRCm39) N373K probably damaging Het
Msh3 A T 13: 92,357,505 (GRCm39) M101K probably damaging Het
Mthfd2l T C 5: 91,168,065 (GRCm39) M320T possibly damaging Het
Mug1 G A 6: 121,838,514 (GRCm39) E506K probably benign Het
Ngb T C 12: 87,147,503 (GRCm39) D54G probably damaging Het
Ntrk1 A G 3: 87,699,014 (GRCm39) F84L probably benign Het
Or1j18 A T 2: 36,624,545 (GRCm39) I71F probably benign Het
Or52n2b T A 7: 104,566,180 (GRCm39) T108S probably benign Het
Phf12 T A 11: 77,908,994 (GRCm39) I358N possibly damaging Het
Plec A G 15: 76,061,801 (GRCm39) F2577S probably damaging Het
Prkd1 A T 12: 50,413,155 (GRCm39) M672K probably damaging Het
Prob1 T C 18: 35,785,539 (GRCm39) Y905C probably damaging Het
Ptpn23 T A 9: 110,215,361 (GRCm39) H1433L possibly damaging Het
Rnf11 A T 4: 109,314,149 (GRCm39) L80Q probably damaging Het
Sbp G A 17: 24,164,286 (GRCm39) G183D probably benign Het
Scgb2b7 A T 7: 31,403,437 (GRCm39) C90S possibly damaging Het
Slc4a9 T C 18: 36,668,471 (GRCm39) L710P probably damaging Het
Spire1 T A 18: 67,685,670 (GRCm39) I35F probably damaging Het
Sptbn2 T C 19: 4,795,966 (GRCm39) V1715A possibly damaging Het
St7 T C 6: 17,819,281 (GRCm39) F62L probably damaging Het
Svep1 C T 4: 58,118,136 (GRCm39) G862D probably damaging Het
Syne1 A T 10: 4,972,041 (GRCm39) M8789K probably damaging Het
Synpo2 A G 3: 122,906,421 (GRCm39) L965P probably damaging Het
Trhde A T 10: 114,284,167 (GRCm39) M772K probably benign Het
Ttn T A 2: 76,608,851 (GRCm39) K15976* probably null Het
Unc13a A C 8: 72,110,645 (GRCm39) probably null Het
Vcan T C 13: 89,851,318 (GRCm39) E1214G possibly damaging Het
Vmn1r29 T C 6: 58,285,072 (GRCm39) V264A probably benign Het
Vmn1r60 T A 7: 5,548,118 (GRCm39) probably benign Het
Wdr90 C T 17: 26,079,459 (GRCm39) R225H probably benign Het
Wnk1 G A 6: 119,946,293 (GRCm39) T620I probably damaging Het
Zan C T 5: 137,405,968 (GRCm39) probably benign Het
Zfp37 A T 4: 62,109,902 (GRCm39) C387* probably null Het
Zfp521 T C 18: 13,977,897 (GRCm39) T839A probably benign Het
Other mutations in Polr1c
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01412:Polr1c APN 17 46,555,135 (GRCm39) missense probably damaging 1.00
IGL02035:Polr1c APN 17 46,557,085 (GRCm39) missense possibly damaging 0.72
R0068:Polr1c UTSW 17 46,555,829 (GRCm39) missense probably benign 0.00
R0828:Polr1c UTSW 17 46,555,990 (GRCm39) missense probably damaging 0.96
R0881:Polr1c UTSW 17 46,555,539 (GRCm39) missense possibly damaging 0.69
R1322:Polr1c UTSW 17 46,555,089 (GRCm39) missense possibly damaging 0.74
R1518:Polr1c UTSW 17 46,558,821 (GRCm39) missense possibly damaging 0.89
R3765:Polr1c UTSW 17 46,558,850 (GRCm39) missense probably damaging 0.99
R4212:Polr1c UTSW 17 46,557,046 (GRCm39) missense probably damaging 0.97
R4548:Polr1c UTSW 17 46,558,735 (GRCm39) splice site probably null
R5017:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R5018:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R5039:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R5167:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R5168:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R5971:Polr1c UTSW 17 46,558,635 (GRCm39) intron probably benign
R6979:Polr1c UTSW 17 46,557,095 (GRCm39) missense probably damaging 1.00
R7812:Polr1c UTSW 17 46,557,053 (GRCm39) missense probably damaging 1.00
R7869:Polr1c UTSW 17 46,555,817 (GRCm39) missense probably benign 0.00
R8025:Polr1c UTSW 17 46,555,974 (GRCm39) missense probably damaging 1.00
R9186:Polr1c UTSW 17 46,556,633 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TGTGTGGTCCATTATCCCACCGAG -3'
(R):5'- TCGCCTCCTTTTACAGCGAGTG -3'

Sequencing Primer
(F):5'- ttatcccaccgagagcaac -3'
(R):5'- TTTACAGCGAGTGGCGGAAG -3'
Posted On 2013-05-23