Incidental Mutation 'R0127:Rtf1'
ID21426
Institutional Source Beutler Lab
Gene Symbol Rtf1
Ensembl Gene ENSMUSG00000027304
Gene NameRTF1, Paf1/RNA polymerase II complex component
SynonymsGtl7, 2900005O08Rik, 6530416A09Rik
MMRRC Submission 038412-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #R0127 (G1)
Quality Score221
Status Validated (trace)
Chromosome2
Chromosomal Location119675068-119735407 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 119726743 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Histidine at position 443 (R443H)
Ref Sequence ENSEMBL: ENSMUSP00000028767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028767]
Predicted Effect probably damaging
Transcript: ENSMUST00000028767
AA Change: R443H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: R443H

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 0.494 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.7%
  • 20x: 90.9%
Validation Efficiency 99% (85/86)
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: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061N02Rik T C 16: 88,707,454 T152A probably benign Het
Abca1 T C 4: 53,067,155 I1351V probably benign Het
Acap1 A T 11: 69,887,217 probably benign Het
Als2cl T C 9: 110,891,867 L521P probably damaging Het
Ankrd50 T C 3: 38,456,235 D661G probably benign Het
Atp6v1b2 T A 8: 69,103,460 N262K probably damaging Het
Baz1a T A 12: 54,898,706 D1288V possibly damaging Het
Bbs1 A T 19: 4,895,029 D371E probably benign Het
Bphl A G 13: 34,064,046 probably benign Het
Caskin2 C A 11: 115,800,994 R988S probably damaging Het
Cbr1 C A 16: 93,609,987 T197N probably damaging Het
Ccdc88c T C 12: 100,935,740 E1213G possibly damaging Het
Ccna1 A G 3: 55,049,748 F83L probably damaging Het
Cep290 T A 10: 100,536,925 probably benign Het
Cep89 C A 7: 35,428,262 T543K possibly damaging Het
Cmtm7 T C 9: 114,781,670 M45V probably benign Het
Col16a1 T A 4: 130,052,857 V91E probably damaging Het
Csmd3 T C 15: 47,981,930 N920S probably benign Het
Cyp26b1 A G 6: 84,577,208 probably benign Het
Dao T A 5: 114,019,963 H215Q probably damaging Het
Dido1 T C 2: 180,671,824 D885G probably benign Het
Dlx4 T G 11: 95,141,229 M240L probably benign Het
Dnah5 C T 15: 28,294,925 P1351L probably damaging Het
Dnah6 T A 6: 73,038,734 probably benign Het
Dock5 A T 14: 67,846,042 D139E probably benign Het
Fam234b T C 6: 135,218,823 probably benign Het
Fat2 T C 11: 55,289,286 T1410A probably benign Het
Fsip2 T A 2: 82,984,925 N3667K probably benign Het
Gm14085 T A 2: 122,517,069 probably null Het
Gm5114 T C 7: 39,408,456 I580V probably benign Het
Hapln1 A T 13: 89,607,869 Y264F probably benign Het
Heatr5a A G 12: 51,925,405 V694A probably benign Het
Hps1 A G 19: 42,771,111 probably benign Het
Igsf9b G T 9: 27,334,385 R1216L possibly damaging Het
Il4ra G T 7: 125,569,070 C87F probably damaging Het
Kmt5b A G 19: 3,786,465 M1V probably null Het
Krit1 A G 5: 3,822,178 E401G probably damaging Het
Lamp1 T C 8: 13,174,491 V385A probably damaging Het
Ly6g5b A G 17: 35,114,591 Y82H probably damaging Het
Mapre2 A G 18: 23,804,175 I25V probably benign Het
Mep1a A G 17: 43,497,886 probably benign Het
Mgea5 A T 19: 45,771,888 I277N probably damaging Het
Mkrn1 A G 6: 39,399,275 W466R probably benign Het
Muc2 C A 7: 141,748,954 F11L probably benign Het
Nebl T A 2: 17,392,983 M501L probably benign Het
Olfr1151 A G 2: 87,857,483 I103V probably benign Het
Olfr1179 A G 2: 88,402,355 V193A probably benign Het
Olfr744 A G 14: 50,618,332 I37V probably benign Het
Olfr951 A G 9: 39,393,942 I50M probably benign Het
Pkd1l2 A G 8: 117,050,048 probably benign Het
Pkhd1l1 A G 15: 44,554,605 M2886V probably damaging Het
Pop5 T A 5: 115,240,171 L58H probably damaging Het
Prkch C A 12: 73,721,787 H444N possibly damaging Het
Reln T C 5: 22,004,136 D1148G probably damaging Het
Rffl G A 11: 82,812,632 T120M probably damaging Het
Rmdn2 A T 17: 79,670,569 S320C probably damaging Het
Rrbp1 C T 2: 143,989,944 R101H probably benign Het
Serac1 G T 17: 6,048,840 L559I probably damaging Het
Slc12a1 A G 2: 125,219,762 R958G probably damaging Het
Slc15a3 T A 19: 10,855,986 W456R probably damaging Het
Slc35f5 C T 1: 125,576,205 P290L probably damaging Het
Slc35g2 C T 9: 100,553,117 R167Q probably benign Het
Spag4 T C 2: 156,068,042 V302A probably damaging Het
Spire2 A C 8: 123,358,097 probably benign Het
Sptbn2 G T 19: 4,724,744 V142L probably damaging Het
Syt17 T A 7: 118,409,941 D352V probably damaging Het
Tarsl2 A T 7: 65,664,969 D425V probably benign Het
Tctex1d1 T C 4: 103,002,452 probably benign Het
Thsd7a A G 6: 12,554,908 S326P probably benign Het
Tnpo2 T C 8: 85,040,628 S64P probably damaging Het
Tonsl G T 15: 76,633,485 A678D probably benign Het
Trim12c A G 7: 104,340,906 probably null Het
Tsc22d1 A G 14: 76,418,981 T885A possibly damaging Het
Ttn T C 2: 76,742,198 D26117G probably damaging Het
Ttn T A 2: 76,877,011 probably benign Het
Ugt3a1 T C 15: 9,306,256 F164L probably benign Het
Vmn2r89 A G 14: 51,455,703 N170S probably damaging Het
Vrk2 G T 11: 26,534,313 probably benign Het
Wt1 C A 2: 105,133,457 D207E probably damaging Het
Zbtb46 G A 2: 181,411,815 A368V probably benign Het
Zc3h13 A T 14: 75,323,254 D428V unknown Het
Zcchc8 C G 5: 123,707,337 G320A probably damaging Het
Znfx1 T C 2: 167,044,210 E810G possibly damaging 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
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
R4552:Rtf1 UTSW 2 119730729 missense probably benign 0.00
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'- ACTGGAAGCTCAGTCCTATACACCC -3'
(R):5'- ACTGGATCTTAAAGAACAGCCAGCC -3'

Sequencing Primer
(F):5'- ACCCATTGAGATAACGTCTGG -3'
(R):5'- CATCTAGTGTGGGCAACTGC -3'
Posted On2013-04-11