Incidental Mutation 'R5887:Rbm17'
ID 456146
Institutional Source Beutler Lab
Gene Symbol Rbm17
Ensembl Gene ENSMUSG00000037197
Gene Name RNA binding motif protein 17
Synonyms 2700027J02Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R5887 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 11590250-11608061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 11590485 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 390 (F390Y)
Ref Sequence ENSEMBL: ENSMUSP00000041831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040314]
AlphaFold Q8JZX4
Predicted Effect probably damaging
Transcript: ENSMUST00000040314
AA Change: F390Y

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: F390Y

DomainStartEndE-ValueType
coiled coil region 106 144 N/A INTRINSIC
low complexity region 148 166 N/A INTRINSIC
G_patch 233 279 4.97e-13 SMART
RRM 310 389 4.69e-29 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125808
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131036
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150369
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195047
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.2%
  • 20x: 91.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA binding protein. The encoded protein is part of the spliceosome complex and functions in the second catalytic step of mRNA splicing. Alternatively spliced transcript variants have been described. Related pseudogenes exist on chromosomes 9 and 15. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930590J08Rik C T 6: 91,892,124 (GRCm39) Q129* probably null Het
Acad8 A T 9: 26,890,620 (GRCm39) probably null Het
AK157302 T C 13: 21,679,579 (GRCm39) I35T possibly damaging Het
Arfgef3 G T 10: 18,483,413 (GRCm39) S1437* probably null Het
Calcrl A T 2: 84,200,841 (GRCm39) W68R probably damaging Het
Cd200l1 T A 16: 45,238,279 (GRCm39) L178F probably damaging Het
Cd59a A G 2: 103,934,546 (GRCm39) R5G probably damaging Het
Chl1 C T 6: 103,694,565 (GRCm39) A1091V probably benign Het
Copg1 T C 6: 87,879,279 (GRCm39) F442L probably damaging Het
Creld1 T C 6: 113,469,860 (GRCm39) *421Q probably null Het
Crocc2 T A 1: 93,121,838 (GRCm39) H662Q possibly damaging Het
Csf2ra G A 19: 61,215,766 (GRCm39) A13V possibly damaging Het
Cul3 T C 1: 80,254,139 (GRCm39) T546A possibly damaging Het
Dnah8 C T 17: 31,013,691 (GRCm39) P3811S probably damaging Het
Dock6 T A 9: 21,731,690 (GRCm39) H1173L probably damaging Het
Dpysl4 T C 7: 138,676,192 (GRCm39) I328T possibly damaging Het
Dspp G A 5: 104,323,321 (GRCm39) G155R probably damaging Het
Fbxo33 A T 12: 59,251,545 (GRCm39) C57* probably null Het
Frrs1 T A 3: 116,690,399 (GRCm39) V14D probably benign Het
Gm13199 C T 2: 5,867,113 (GRCm39) G96S unknown Het
Gpr155 A T 2: 73,174,062 (GRCm39) C754* probably null Het
Gpr62 A T 9: 106,342,814 (GRCm39) V38E probably damaging Het
Kcnt2 C A 1: 140,353,104 (GRCm39) P271H probably damaging Het
Kpna3 C T 14: 61,640,461 (GRCm39) V34I probably benign Het
Lamb1 C T 12: 31,316,863 (GRCm39) Q71* probably null Het
Lipk T C 19: 34,016,507 (GRCm39) I245T possibly damaging Het
Lrp1b T G 2: 40,711,719 (GRCm39) N3281T possibly damaging Het
Lrp5 A C 19: 3,654,094 (GRCm39) I1111S probably benign Het
Mmrn1 T C 6: 60,964,058 (GRCm39) V1020A probably benign Het
Or4c107 G A 2: 88,789,098 (GRCm39) C96Y possibly damaging Het
Or8b48 G A 9: 38,493,080 (GRCm39) C169Y probably damaging Het
Or8g34 T C 9: 39,372,787 (GRCm39) L17P probably damaging Het
Pcdha7 A T 18: 37,108,960 (GRCm39) T662S probably damaging Het
Pcdhga6 A G 18: 37,841,612 (GRCm39) D444G probably damaging Het
Pkd2 T G 5: 104,646,405 (GRCm39) D737E probably damaging Het
Plcd4 C T 1: 74,590,249 (GRCm39) R161W probably damaging Het
Prpf8 A G 11: 75,391,734 (GRCm39) Y1494C possibly damaging Het
Rad17 A C 13: 100,770,369 (GRCm39) probably null Het
Rhod A T 19: 4,489,315 (GRCm39) L22Q probably damaging Het
Serpina1f T C 12: 103,656,046 (GRCm39) D394G possibly damaging Het
Serpina1f G A 12: 103,659,890 (GRCm39) Q131* probably null Het
Spocd1 A T 4: 129,842,752 (GRCm39) S56C probably damaging Het
St7l G A 3: 104,782,244 (GRCm39) R207H probably benign Het
Tasor T A 14: 27,188,254 (GRCm39) L900* probably null Het
Tbx18 T C 9: 87,595,566 (GRCm39) D336G possibly damaging Het
Tfg A T 16: 56,514,779 (GRCm39) Y135* probably null Het
Tjp2 A G 19: 24,073,963 (GRCm39) L1108P probably benign Het
Tmem150c C A 5: 100,243,524 (GRCm39) V8L probably benign Het
Ttn A T 2: 76,746,789 (GRCm39) H4753Q probably benign Het
Tyw1 T A 5: 130,354,540 (GRCm39) I589N probably damaging Het
Usp40 C T 1: 87,927,592 (GRCm39) R139Q probably damaging Het
Zgrf1 A G 3: 127,378,414 (GRCm39) Y174C probably damaging Het
Other mutations in Rbm17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Rbm17 APN 2 11,600,249 (GRCm39) unclassified probably benign
R0178:Rbm17 UTSW 2 11,592,590 (GRCm39) missense probably benign 0.04
R0180:Rbm17 UTSW 2 11,592,590 (GRCm39) missense probably benign 0.04
R1457:Rbm17 UTSW 2 11,598,272 (GRCm39) missense probably benign 0.11
R1606:Rbm17 UTSW 2 11,600,208 (GRCm39) missense probably benign
R1672:Rbm17 UTSW 2 11,590,530 (GRCm39) missense possibly damaging 0.95
R1941:Rbm17 UTSW 2 11,593,885 (GRCm39) missense possibly damaging 0.95
R2327:Rbm17 UTSW 2 11,602,942 (GRCm39) missense probably damaging 1.00
R2859:Rbm17 UTSW 2 11,595,515 (GRCm39) missense possibly damaging 0.84
R3813:Rbm17 UTSW 2 11,600,246 (GRCm39) unclassified probably benign
R6866:Rbm17 UTSW 2 11,602,901 (GRCm39) missense probably benign 0.06
R6985:Rbm17 UTSW 2 11,595,504 (GRCm39) missense probably benign
R8428:Rbm17 UTSW 2 11,605,441 (GRCm39) missense possibly damaging 0.80
Z1176:Rbm17 UTSW 2 11,601,579 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TAACTAGACCTTGTAGTGCCCG -3'
(R):5'- TGCCCCTGATGATGAAGCAG -3'

Sequencing Primer
(F):5'- TGTGGCGTGGCACAAATC -3'
(R):5'- CCCCTGATGATGAAGCAGTACGG -3'
Posted On 2017-02-15