Incidental Mutation 'R6960:Rtf1'
ID 541692
Institutional Source Beutler Lab
Gene Symbol Rtf1
Ensembl Gene ENSMUSG00000027304
Gene Name RTF1, Paf1/RNA polymerase II complex component
Synonyms Gtl7, 2900005O08Rik, 6530416A09Rik
MMRRC Submission 045070-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6960 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 119505549-119565888 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119541559 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Arginine at position 264 (Q264R)
Ref Sequence ENSEMBL: ENSMUSP00000028767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028767]
AlphaFold A2AQ19
Predicted Effect probably damaging
Transcript: ENSMUST00000028767
AA Change: Q264R

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: Q264R

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
low complexity region 97 108 N/A INTRINSIC
low complexity region 115 128 N/A INTRINSIC
low complexity region 138 182 N/A INTRINSIC
coiled coil region 228 309 N/A INTRINSIC
low complexity region 318 350 N/A INTRINSIC
Plus3 358 466 2.23e-56 SMART
coiled coil region 529 565 N/A INTRINSIC
Meta Mutation Damage Score 0.0720 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.3%
  • 20x: 97.6%
Validation Efficiency 98% (50/51)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus may represent a gene involved in regulation of transcription elongation and chromatin remodeling, based on studies of similar proteins in other organisms. The encoded protein may bind single-stranded DNA. [provided by RefSeq, Sep 2010]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca1 T C 4: 53,072,924 (GRCm39) D1170G probably benign Het
Ak7 A T 12: 105,676,503 (GRCm39) T68S probably benign Het
Arhgap12 A T 18: 6,111,901 (GRCm39) N26K probably damaging Het
B3galt1 A T 2: 67,949,033 (GRCm39) E249D probably damaging Het
Catsper4 T A 4: 133,954,648 (GRCm39) M1L probably benign Het
Cc2d2b T C 19: 40,773,506 (GRCm39) V523A possibly damaging Het
Ccn4 C T 15: 66,791,047 (GRCm39) T283M probably benign Het
Cyp11a1 T C 9: 57,925,659 (GRCm39) F98S probably damaging Het
Cyp2d26 T C 15: 82,674,446 (GRCm39) S479G probably damaging Het
Dclre1a T G 19: 56,531,141 (GRCm39) Y735S probably damaging Het
Dio2 C T 12: 90,696,671 (GRCm39) G106R probably damaging Het
Efcab12 T C 6: 115,815,273 (GRCm39) probably benign Het
Ehhadh C A 16: 21,581,028 (GRCm39) V655L probably benign Het
Ercc2 G A 7: 19,127,615 (GRCm39) R379Q probably damaging Het
Fabp4 A G 3: 10,273,537 (GRCm39) V12A probably benign Het
Fbn1 T C 2: 125,223,980 (GRCm39) I590V probably benign Het
Grm8 C A 6: 27,981,281 (GRCm39) V210L probably damaging Het
Jakmip3 A G 7: 138,625,065 (GRCm39) D359G probably damaging Het
Lrit1 G C 14: 36,782,052 (GRCm39) V242L probably damaging Het
Ly75 A T 2: 60,136,749 (GRCm39) Y1493N probably benign Het
Lyst A G 13: 13,808,663 (GRCm39) N111S probably benign Het
Lyz2 G C 10: 117,114,607 (GRCm39) I107M possibly damaging Het
Mgat5 A T 1: 127,248,371 (GRCm39) D91V possibly damaging Het
Mical3 T A 6: 120,935,504 (GRCm39) D1674V probably damaging Het
Myom2 G A 8: 15,167,741 (GRCm39) A1109T probably null Het
Naa16 A G 14: 79,596,911 (GRCm39) Y358H possibly damaging Het
Nktr T A 9: 121,571,758 (GRCm39) H226Q probably damaging Het
Ocln T G 13: 100,635,380 (GRCm39) K503T possibly damaging Het
Olfm4 T C 14: 80,258,754 (GRCm39) L301S probably damaging Het
Or4f4b G A 2: 111,314,071 (GRCm39) V127I possibly damaging Het
Or6c74 T C 10: 129,869,972 (GRCm39) L159P probably benign Het
Paqr4 G A 17: 23,956,697 (GRCm39) A222V probably benign Het
Pcdhb13 A G 18: 37,576,509 (GRCm39) T296A probably benign Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Pigg T C 5: 108,474,707 (GRCm39) V309A probably damaging Het
Ptger4 T C 15: 5,264,196 (GRCm39) R462G probably benign Het
Ptprc C T 1: 138,006,183 (GRCm39) probably null Het
Rabggta A C 14: 55,959,299 (GRCm39) probably null Het
Rnf25 A G 1: 74,634,403 (GRCm39) S207P possibly damaging Het
Rsf1 G GACGGCGGCC 7: 97,229,116 (GRCm39) probably benign Het
Ryr2 A G 13: 11,816,129 (GRCm39) V619A probably benign Het
Serpinb6d A G 13: 33,855,181 (GRCm39) N285S probably benign Het
Slamf6 A G 1: 171,745,320 (GRCm39) M16V probably damaging Het
Slc22a23 A G 13: 34,528,140 (GRCm39) probably null Het
Slc23a2 T C 2: 131,933,173 (GRCm39) D95G probably damaging Het
Smc3 T C 19: 53,617,802 (GRCm39) Y600H probably damaging Het
Tarbp1 G A 8: 127,155,778 (GRCm39) T1320M possibly damaging Het
Tigd4 A T 3: 84,501,423 (GRCm39) K113N probably damaging Het
Tjp1 A T 7: 64,952,763 (GRCm39) F1444I possibly damaging Het
Tstd3 A T 4: 21,767,118 (GRCm39) M1K probably null Het
Zbtb46 T C 2: 181,065,217 (GRCm39) D311G probably damaging Het
Other mutations in Rtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Rtf1 APN 2 119,542,589 (GRCm39) missense probably benign 0.37
IGL02010:Rtf1 APN 2 119,531,747 (GRCm39) critical splice donor site probably null
IGL02336:Rtf1 APN 2 119,559,226 (GRCm39) splice site probably benign
IGL03004:Rtf1 APN 2 119,531,754 (GRCm39) splice site probably benign
R0127:Rtf1 UTSW 2 119,557,224 (GRCm39) missense probably damaging 1.00
R0244:Rtf1 UTSW 2 119,563,358 (GRCm39) missense probably damaging 1.00
R1014:Rtf1 UTSW 2 119,550,727 (GRCm39) missense possibly damaging 0.83
R1387:Rtf1 UTSW 2 119,536,126 (GRCm39) critical splice donor site probably null
R1760:Rtf1 UTSW 2 119,558,889 (GRCm39) missense probably benign 0.01
R2114:Rtf1 UTSW 2 119,535,999 (GRCm39) missense probably benign 0.02
R2115:Rtf1 UTSW 2 119,535,999 (GRCm39) missense probably benign 0.02
R2117:Rtf1 UTSW 2 119,535,999 (GRCm39) missense probably benign 0.02
R2342:Rtf1 UTSW 2 119,542,598 (GRCm39) missense probably benign
R4552:Rtf1 UTSW 2 119,561,210 (GRCm39) missense probably benign 0.00
R4801:Rtf1 UTSW 2 119,505,709 (GRCm39) missense possibly damaging 0.94
R4802:Rtf1 UTSW 2 119,505,709 (GRCm39) missense possibly damaging 0.94
R4843:Rtf1 UTSW 2 119,536,017 (GRCm39) missense possibly damaging 0.68
R5539:Rtf1 UTSW 2 119,560,405 (GRCm39) missense possibly damaging 0.84
R6250:Rtf1 UTSW 2 119,505,658 (GRCm39) missense unknown
R7282:Rtf1 UTSW 2 119,505,580 (GRCm39) missense unknown
R8120:Rtf1 UTSW 2 119,531,602 (GRCm39) missense probably damaging 0.99
R8236:Rtf1 UTSW 2 119,531,695 (GRCm39) missense probably damaging 0.98
R8961:Rtf1 UTSW 2 119,557,377 (GRCm39) missense probably benign
R9718:Rtf1 UTSW 2 119,535,986 (GRCm39) missense possibly damaging 0.66
X0026:Rtf1 UTSW 2 119,557,269 (GRCm39) missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- TGTCTTCTAGCCAAAAGAAACCAGTC -3'
(R):5'- AAGGCCTCCTACCTGAGATTC -3'

Sequencing Primer
(F):5'- TCTAGCCAAAAGAAACCAGTCTTTAC -3'
(R):5'- ACCTGAGATTCCTGAGTCTGTGC -3'
Posted On 2018-11-28