Incidental Mutation 'R4552:Rtf1'
ID333996
Institutional Source Beutler Lab
Gene Symbol Rtf1
Ensembl Gene ENSMUSG00000027304
Gene NameRTF1, Paf1/RNA polymerase II complex component
SynonymsGtl7, 2900005O08Rik, 6530416A09Rik
MMRRC Submission 041783-MU
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #R4552 (G1)
Quality Score225
Status Validated
Chromosome2
Chromosomal Location119675068-119735407 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 119730729 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 636 (D636E)
Ref Sequence ENSEMBL: ENSMUSP00000028767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028767]
Predicted Effect probably benign
Transcript: ENSMUST00000028767
AA Change: D636E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: D636E

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
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126984
Meta Mutation Damage Score 0.0684 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.9%
  • 20x: 94.4%
Validation Efficiency 97% (62/64)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 G A 13: 70,779,518 probably benign Het
Arhgap33 A T 7: 30,519,108 probably benign Het
Arid1a A C 4: 133,695,699 probably benign Het
C4bp A G 1: 130,636,727 Y407H possibly damaging Het
Camta1 T C 4: 151,792,502 R79G probably damaging Het
Caskin1 G A 17: 24,506,628 S1296N probably benign Het
Cep128 T C 12: 91,294,162 E309G probably damaging Het
Chit1 A G 1: 134,144,051 T100A probably benign Het
Dalrd3 A G 9: 108,572,230 D454G possibly damaging Het
Ddx19a G A 8: 110,978,566 Q308* probably null Het
Dmxl2 T C 9: 54,451,763 N395S probably damaging Het
Dnah17 T C 11: 118,052,943 D3125G possibly damaging Het
Dnah5 T C 15: 28,397,154 V3331A probably benign Het
Dnah9 T C 11: 65,841,366 E4238G probably damaging Het
Dner T C 1: 84,383,857 Y677C probably damaging Het
Epgn A T 5: 91,027,562 K14* probably null Het
Hid1 G A 11: 115,358,679 T240M possibly damaging Het
Igbp1b T A 6: 138,658,114 M111L probably benign Het
Kif26b T A 1: 178,884,035 I740N probably damaging Het
Klk4 C A 7: 43,884,019 H101N probably benign Het
Mrgpra2b C A 7: 47,464,006 S300I probably benign Het
Mtss1l A G 8: 110,738,505 T464A probably damaging Het
Nbas T C 12: 13,335,937 probably null Het
Nif3l1 C T 1: 58,449,324 probably benign Het
Noct T A 3: 51,250,168 I309N probably benign Het
Obscn T C 11: 59,131,646 R758G possibly damaging Het
Odf2l A T 3: 145,151,083 T600S probably benign Het
Odf4 C T 11: 68,922,040 S264N probably benign Het
Olfr1391 A T 11: 49,327,950 M180L probably benign Het
Olfr24 A G 9: 18,755,134 V167A possibly damaging Het
Olfr45 A T 7: 140,691,742 Y279F probably damaging Het
Olfr815 T C 10: 129,902,123 M196V probably benign Het
Papolb T C 5: 142,529,178 I237V probably benign Het
Parpbp T A 10: 88,093,702 Q428L possibly damaging Het
Pclo T C 5: 14,669,271 S1141P unknown Het
Plcb1 T C 2: 135,335,493 S582P probably benign Het
Ppargc1a C T 5: 51,463,215 probably benign Het
Ptchd4 A T 17: 42,502,455 I416L probably benign Het
Rhpn1 G A 15: 75,714,119 R627H probably benign Het
Ric8a G A 7: 140,861,337 G182S probably damaging Het
Rims1 T C 1: 22,373,494 D895G probably damaging Het
Rrp1b G A 17: 32,056,010 probably benign Het
Scn3a T C 2: 65,524,179 D333G probably benign Het
Sema6a A G 18: 47,291,923 L207P probably damaging Het
Shcbp1 A T 8: 4,749,779 Y160* probably null Het
Slc27a1 A T 8: 71,580,066 probably null Het
Ston2 C T 12: 91,641,872 R818Q probably damaging Het
Tipin T A 9: 64,288,103 probably null Het
Tjap1 A T 17: 46,260,027 probably null Het
Vmn1r117 A T 7: 20,883,592 F177Y probably damaging Het
Vmn1r57 A G 7: 5,220,668 D64G possibly damaging Het
Vmn2r73 T A 7: 85,875,847 D31V probably benign Het
Vmn2r-ps41 A T 7: 9,177,064 noncoding transcript Het
Other mutations in Rtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Rtf1 APN 2 119712108 missense probably benign 0.37
IGL02010:Rtf1 APN 2 119701266 critical splice donor site probably null
IGL02336:Rtf1 APN 2 119728745 splice site probably benign
IGL03004:Rtf1 APN 2 119701273 splice site probably benign
R0127:Rtf1 UTSW 2 119726743 missense probably damaging 1.00
R0244:Rtf1 UTSW 2 119732877 missense probably damaging 1.00
R1014:Rtf1 UTSW 2 119720246 missense possibly damaging 0.83
R1387:Rtf1 UTSW 2 119705645 critical splice donor site probably null
R1760:Rtf1 UTSW 2 119728408 missense probably benign 0.01
R2114:Rtf1 UTSW 2 119705518 missense probably benign 0.02
R2115:Rtf1 UTSW 2 119705518 missense probably benign 0.02
R2117:Rtf1 UTSW 2 119705518 missense probably benign 0.02
R2342:Rtf1 UTSW 2 119712117 missense probably benign
R4801:Rtf1 UTSW 2 119675228 missense possibly damaging 0.94
R4802:Rtf1 UTSW 2 119675228 missense possibly damaging 0.94
R4843:Rtf1 UTSW 2 119705536 missense possibly damaging 0.68
R5539:Rtf1 UTSW 2 119729924 missense possibly damaging 0.84
R6250:Rtf1 UTSW 2 119675177 missense unknown
R6960:Rtf1 UTSW 2 119711078 missense probably damaging 0.97
R7282:Rtf1 UTSW 2 119675099 missense unknown
X0026:Rtf1 UTSW 2 119726788 missense probably benign 0.10
Predicted Primers PCR Primer
(F):5'- ATCTGCTAATGGATGCCCTGTAG -3'
(R):5'- AGTACCAGCGATTACACTCTTAAG -3'

Sequencing Primer
(F):5'- CTAATGGATGCCCTGTAGTACTTATG -3'
(R):5'- CCAGCGATTACACTCTTAAGTAATG -3'
Posted On2015-08-18