Incidental Mutation 'IGL02010:Rtf1'
ID183348
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rtf1
Ensembl Gene ENSMUSG00000027304
Gene NameRTF1, Paf1/RNA polymerase II complex component
SynonymsGtl7, 2900005O08Rik, 6530416A09Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.968) question?
Stock #IGL02010
Quality Score
Status
Chromosome2
Chromosomal Location119675068-119735407 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (1 bp from exon)
DNA Base Change (assembly) G to A at 119701266 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000028767 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028767]
Predicted Effect probably null
Transcript: ENSMUST00000028767
SMART Domains Protein: ENSMUSP00000028767
Gene: ENSMUSG00000027304

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
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930452B06Rik A T 14: 8,578,384 H119Q possibly damaging Het
Abca6 T C 11: 110,219,616 D569G probably benign Het
Abhd17b C T 19: 21,684,121 T224I probably benign Het
Atf6b T A 17: 34,654,652 S695R probably benign Het
BC027072 T A 17: 71,749,464 T1073S probably benign Het
Cdh6 A C 15: 13,034,190 probably benign Het
Cep290 T C 10: 100,561,345 S2156P probably benign Het
Cep290 G T 10: 100,508,707 C462F probably benign Het
Cit T C 5: 115,875,947 F240L probably damaging Het
Col1a2 T A 6: 4,512,416 probably null Het
Ctcf T A 8: 105,664,965 H297Q probably damaging Het
Dhx29 T C 13: 112,966,634 probably null Het
Dhx37 T G 5: 125,418,713 T835P possibly damaging Het
Enc1 C T 13: 97,245,080 L33F possibly damaging Het
Epyc T A 10: 97,649,701 M1K probably null Het
F10 T C 8: 13,048,292 I165T probably damaging Het
Fam124a T C 14: 62,587,279 L74P probably damaging Het
Fam234b A G 6: 135,209,407 S138G probably benign Het
Fam81a T C 9: 70,099,137 K198E probably benign Het
Fbn2 T C 18: 58,037,722 Y2199C probably damaging Het
Fign A C 2: 63,980,400 S175R probably damaging Het
Grik1 T C 16: 88,051,508 N124S possibly damaging Het
Hdac9 G T 12: 34,431,945 L175M probably damaging Het
Hephl1 A C 9: 15,090,556 Y163* probably null Het
Hes1 G A 16: 30,067,310 G244D probably damaging Het
Hexb A G 13: 97,176,845 L501P probably benign Het
Igkv5-45 T C 6: 69,775,952 I49V probably benign Het
Ipo5 T C 14: 120,933,377 S491P probably benign Het
Jakmip2 C T 18: 43,559,093 probably null Het
Lrfn5 A G 12: 61,839,683 T86A probably damaging Het
Lrp1b T C 2: 41,468,942 T640A probably damaging Het
M6pr G T 6: 122,315,126 R139L possibly damaging Het
Myl9 A T 2: 156,778,659 N39Y probably damaging Het
Nlrp3 A G 11: 59,549,535 D646G probably benign Het
Nlrp5 A T 7: 23,417,372 M174L probably benign Het
Nnmt T A 9: 48,592,031 I232F probably damaging Het
Nrg1 T C 8: 31,918,143 T21A probably benign Het
Olfr1095 C T 2: 86,851,197 C167Y possibly damaging Het
Olfr808 A G 10: 129,768,267 Y257C probably benign Het
Pcdh7 T G 5: 58,129,255 N1224K probably benign Het
Pde4a T C 9: 21,203,554 probably null Het
Pfkfb3 T C 2: 11,483,994 T320A probably benign Het
Plekhm2 T C 4: 141,637,419 probably benign Het
Rabgap1l C T 1: 160,472,071 R584H probably damaging Het
Rnf157 T A 11: 116,396,226 N57I probably damaging Het
Sap130 C A 18: 31,649,602 R189S probably damaging Het
Slc17a2 T G 13: 23,819,042 V225G probably benign Het
Smg1 T C 7: 118,186,146 probably benign Het
Tecta G A 9: 42,337,193 T1971I probably damaging Het
Tmem136 A T 9: 43,111,564 V165E probably damaging Het
Tmem263 T A 10: 85,114,410 S22T probably benign Het
Tnrc18 A T 5: 142,787,294 F410L unknown Het
Ttc27 T G 17: 74,780,911 probably benign Het
Vmn1r45 A T 6: 89,933,686 C101S probably damaging Het
Wdr17 T C 8: 54,659,703 K781E probably damaging Het
Xkr6 C T 14: 63,819,204 T188M probably benign Het
Other mutations in Rtf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01548:Rtf1 APN 2 119712108 missense probably benign 0.37
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
X0026:Rtf1 UTSW 2 119726788 missense probably benign 0.10
Posted On2014-05-07