Incidental Mutation 'IGL01548:Rtf1'
ID 93235
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtf1
Ensembl Gene ENSMUSG00000027304
Gene Name RTF1, Paf1/RNA polymerase II complex component
Synonyms Gtl7, 2900005O08Rik, 6530416A09Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock # IGL01548
Quality Score
Status
Chromosome 2
Chromosomal Location 119675068-119735407 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 119712108 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 298 (K298E)
Ref Sequence ENSEMBL: ENSMUSP00000028767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028767]
AlphaFold A2AQ19
Predicted Effect probably benign
Transcript: ENSMUST00000028767
AA Change: K298E

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304
AA Change: K298E

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: ENSMUST00000149904
Coding Region Coverage
Validation Efficiency
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: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,814,259 N110D probably damaging Het
Acot3 C T 12: 84,057,089 T224I probably benign Het
Adamts18 C T 8: 113,764,299 G512E probably damaging Het
Atp4b A G 8: 13,389,679 I181T probably damaging Het
Bcl11a A G 11: 24,163,346 I230V probably benign Het
Cenpj C A 14: 56,532,319 V1138L probably benign Het
Cep78 A G 19: 15,981,200 probably benign Het
Clec2j T A 6: 128,655,978 noncoding transcript Het
Col5a3 T C 9: 20,803,000 probably benign Het
Cpne6 A T 14: 55,512,726 T105S probably damaging Het
Csmd1 A T 8: 16,288,646 Y482* probably null Het
Ctrl C A 8: 105,933,258 probably benign Het
Dhcr24 T A 4: 106,573,871 C252* probably null Het
Dnah17 G A 11: 118,098,612 P1261S probably benign Het
Dnaic2 T C 11: 114,752,942 L466P probably damaging Het
Dync2h1 A T 9: 7,071,922 F3036Y probably damaging Het
Eef1akmt2 A C 7: 132,831,405 S191A probably damaging Het
Fam205c T C 4: 42,868,564 E353G probably benign Het
Fat4 G A 3: 39,009,257 C4454Y probably damaging Het
Fat4 T C 3: 38,887,758 S267P probably damaging Het
Frrs1 T C 3: 116,885,185 C219R probably damaging Het
Gabra6 T A 11: 42,317,023 Q207L probably damaging Het
Gm19668 A T 10: 77,798,408 C242* probably null Het
Gm2840 G A 5: 96,174,277 noncoding transcript Het
Gm6614 A G 6: 141,992,512 I227T possibly damaging Het
Gm8765 A G 13: 50,700,378 T91A probably benign Het
Gmcl1p1 G A X: 3,078,226 G423S probably benign Het
Golim4 C T 3: 75,908,125 probably null Het
Gucy1b1 G T 3: 82,034,862 T530K probably damaging Het
Hacl1 A T 14: 31,640,596 D31E possibly damaging Het
Hectd4 A G 5: 121,364,660 T4276A possibly damaging Het
Henmt1 T C 3: 108,942,779 I26T probably damaging Het
Hspa1l G A 17: 34,978,391 A469T probably damaging Het
Htra3 T A 5: 35,664,076 probably null Het
Lrrc28 C A 7: 67,628,294 probably null Het
Mfhas1 T C 8: 35,590,459 L696P probably damaging Het
Mios A G 6: 8,234,252 K808E possibly damaging Het
Mtnr1b A G 9: 15,863,200 Y188H probably damaging Het
Myom1 A G 17: 71,101,220 probably benign Het
Naca A T 10: 128,040,904 probably benign Het
Nckap1l T A 15: 103,462,720 V213D probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Olfr1000 A G 2: 85,608,761 W50R probably benign Het
Olfr1055 T A 2: 86,347,733 Y11F possibly damaging Het
Olfr1260 T A 2: 89,978,539 F254I possibly damaging Het
Olfr1465 A G 19: 13,313,986 F100L possibly damaging Het
Olfr923 A G 9: 38,828,350 T220A probably benign Het
Osbpl1a T C 18: 12,763,575 Y311C probably damaging Het
Parp11 A C 6: 127,491,599 Y204S probably damaging Het
Pla2g4a A G 1: 149,932,656 probably null Het
Plec T C 15: 76,189,258 R519G probably benign Het
Ppp2r5c T A 12: 110,567,827 Y375N probably benign Het
Prss35 C A 9: 86,755,274 S32R probably benign Het
Prss57 C T 10: 79,785,747 probably benign Het
Ptprc A C 1: 138,099,481 probably null Het
Rims1 A G 1: 22,538,602 C188R probably damaging Het
Ripk4 G T 16: 97,751,496 Y144* probably null Het
Rpgrip1 A T 14: 52,126,271 probably benign Het
Rps6ka4 A G 19: 6,832,323 V378A probably benign Het
Sdk1 T C 5: 142,085,765 F1237L possibly damaging Het
Slc40a1 T C 1: 45,909,492 K543E probably benign Het
Sorcs3 A T 19: 48,794,168 I1041F possibly damaging Het
Taok3 T C 5: 117,272,197 M818T probably benign Het
Tas2r119 T A 15: 32,177,977 F230I probably damaging Het
Tbc1d8 T C 1: 39,381,304 D716G probably damaging Het
Tfg A G 16: 56,701,102 S58P probably damaging Het
Thnsl1 A G 2: 21,213,132 I45V probably damaging Het
Tle1 A G 4: 72,170,718 L96P probably damaging Het
Tmem260 A C 14: 48,480,325 S276R possibly damaging Het
Utp20 A G 10: 88,764,781 S24P probably damaging Het
Vcam1 T C 3: 116,115,951 I576V probably benign Het
Vmn1r27 G T 6: 58,215,553 N105K probably benign Het
Vmn2r12 A C 5: 109,093,027 Y73* probably null Het
Vmn2r86 T C 10: 130,446,282 I822V probably benign Het
Wdr6 C T 9: 108,574,897 V596I possibly damaging Het
Zfp946 A T 17: 22,454,662 K132N possibly damaging Het
Other mutations in Rtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
R8120:Rtf1 UTSW 2 119701121 missense probably damaging 0.99
R8236:Rtf1 UTSW 2 119701214 missense probably damaging 0.98
R8961:Rtf1 UTSW 2 119726896 missense probably benign
R9718:Rtf1 UTSW 2 119705505 missense possibly damaging 0.66
X0026:Rtf1 UTSW 2 119726788 missense probably benign 0.10
Posted On 2013-12-09