Incidental Mutation 'IGL01013:Polr2f'
ID53995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Polr2f
Ensembl Gene ENSMUSG00000033020
Gene Namepolymerase (RNA) II (DNA directed) polypeptide F
SynonymsRNA Pol II, 1810060D16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01013
Quality Score
Status
Chromosome15
Chromosomal Location79141009-79151774 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 79146129 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 56 (Y56C)
Ref Sequence ENSEMBL: ENSMUSP00000155332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040077] [ENSMUST00000169604] [ENSMUST00000186053] [ENSMUST00000186459] [ENSMUST00000187550] [ENSMUST00000188562] [ENSMUST00000189761] [ENSMUST00000190509] [ENSMUST00000190730] [ENSMUST00000190959] [ENSMUST00000229973] [ENSMUST00000230271]
Predicted Effect probably damaging
Transcript: ENSMUST00000040077
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000043566
Gene: ENSMUSG00000033020
AA Change: Y56C

DomainStartEndE-ValueType
low complexity region 3 37 N/A INTRINSIC
Pfam:RNA_pol_Rpb6 51 104 2.7e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000169604
SMART Domains Protein: ENSMUSP00000129244
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 4 213 3.2e-92 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186053
SMART Domains Protein: ENSMUSP00000140261
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 58 3.5e-20 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000186459
SMART Domains Protein: ENSMUSP00000139974
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 54 5e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000187550
SMART Domains Protein: ENSMUSP00000140978
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188562
Predicted Effect probably benign
Transcript: ENSMUST00000189761
SMART Domains Protein: ENSMUSP00000139736
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 39 4.9e-6 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190509
SMART Domains Protein: ENSMUSP00000140611
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 33 195 4.4e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190730
SMART Domains Protein: ENSMUSP00000139884
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 57 2.1e-22 PFAM
Pfam:UPF0193 54 155 8.3e-42 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000190959
SMART Domains Protein: ENSMUSP00000140347
Gene: ENSMUSG00000033029

DomainStartEndE-ValueType
Pfam:UPF0193 1 216 1.5e-75 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229762
Predicted Effect probably damaging
Transcript: ENSMUST00000229973
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000229978
Predicted Effect probably damaging
Transcript: ENSMUST00000230271
AA Change: Y56C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes the sixth largest subunit of RNA polymerase II, the polymerase responsible for synthesizing messenger RNA in eukaryotes. In yeast, this polymerase subunit, in combination with at least two other subunits, forms a structure that stabilizes the transcribing polymerase on the DNA template. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T A 5: 76,886,206 E499D possibly damaging Het
Abca1 A T 4: 53,038,185 L2059* probably null Het
Ankar T A 1: 72,650,989 I1228F possibly damaging Het
Appl1 A T 14: 26,949,476 Y340N possibly damaging Het
Atp8b4 C A 2: 126,323,087 R1103L probably benign Het
B4galt6 A G 18: 20,689,013 V308A probably damaging Het
Ccdc162 G A 10: 41,581,339 P1534L probably benign Het
Ccdc78 A G 17: 25,789,054 E313G possibly damaging Het
Cep57l1 G A 10: 41,740,869 R141* probably null Het
Cpsf1 G A 15: 76,599,297 Q883* probably null Het
Crot A G 5: 8,993,575 Y16H probably benign Het
Cyld T G 8: 88,742,362 L587R probably damaging Het
Fam114a1 G A 5: 65,031,395 probably null Het
Fam89b G T 19: 5,729,369 D53E probably benign Het
Fig4 T C 10: 41,267,786 M226V probably benign Het
Gm10722 A T 9: 3,002,230 Y184F probably damaging Het
Hp C A 8: 109,579,021 probably benign Het
Igsf9b G T 9: 27,334,304 R1189L probably damaging Het
Ilf3 A G 9: 21,399,691 N620D possibly damaging Het
Jakmip3 A C 7: 139,017,573 E228A possibly damaging Het
Kpna3 A T 14: 61,370,517 I413K probably damaging Het
Letm1 A T 5: 33,762,590 C202S possibly damaging Het
Lmod2 C A 6: 24,604,135 Q370K probably damaging Het
Map4k5 T C 12: 69,827,526 probably benign Het
Mcidas T A 13: 112,997,585 probably benign Het
Mme A G 3: 63,327,860 probably null Het
Mrc1 T C 2: 14,328,425 W1306R probably damaging Het
Mthfd1l C A 10: 4,030,716 Q473K probably damaging Het
Muc6 A T 7: 141,648,066 C719* probably null Het
Nsun7 T C 5: 66,283,601 I355T possibly damaging Het
Padi6 A G 4: 140,729,003 L560P probably damaging Het
Parl C A 16: 20,282,790 A285S possibly damaging Het
Pclo A T 5: 14,793,834 M4795L unknown Het
Rasgrp2 A T 19: 6,404,383 H152L probably damaging Het
Rpl10l T C 12: 66,284,227 D44G probably benign Het
Slc25a16 A G 10: 62,944,433 probably null Het
Snrnp200 G A 2: 127,232,472 E1411K probably damaging Het
Tanc2 G A 11: 105,625,065 R3Q probably damaging Het
Tbc1d32 G T 10: 56,201,959 probably null Het
Tcf7l2 T C 19: 55,919,627 probably benign Het
Tnrc6c G T 11: 117,722,029 V498L probably benign Het
Tymp G A 15: 89,376,310 H102Y probably damaging Het
Wdr76 T C 2: 121,535,497 S492P probably benign Het
Zc3h12d T C 10: 7,839,956 I41T probably damaging Het
Other mutations in Polr2f
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1727:Polr2f UTSW 15 79144605 unclassified probably benign
R3120:Polr2f UTSW 15 79144588 splice site probably null
R4724:Polr2f UTSW 15 79146069 missense probably benign 0.01
R5050:Polr2f UTSW 15 79144662 unclassified probably benign
R5139:Polr2f UTSW 15 79151658 missense possibly damaging 0.53
R5768:Polr2f UTSW 15 79151645 missense probably damaging 1.00
R5817:Polr2f UTSW 15 79151669 missense probably damaging 0.98
R6313:Polr2f UTSW 15 79151373 missense probably damaging 1.00
R7494:Polr2f UTSW 15 79144665 critical splice donor site probably null
Posted On2013-06-28