Incidental Mutation 'R0178:Rbm17'
ID 60651
Institutional Source Beutler Lab
Gene Symbol Rbm17
Ensembl Gene ENSMUSG00000037197
Gene Name RNA binding motif protein 17
Synonyms 2700027J02Rik
MMRRC Submission 038446-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.968) question?
Stock # R0178 (G1)
Quality Score 150
Status Validated
Chromosome 2
Chromosomal Location 11590250-11608061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 11592590 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Leucine at position 295 (S295L)
Ref Sequence ENSEMBL: ENSMUSP00000041831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040314]
AlphaFold Q8JZX4
Predicted Effect probably benign
Transcript: ENSMUST00000040314
AA Change: S295L

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: S295L

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
Meta Mutation Damage Score 0.1212 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 88.8%
Validation Efficiency 95% (69/73)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930596D02Rik T G 14: 35,533,435 (GRCm39) N111T probably benign Het
Abca1 T C 4: 53,081,953 (GRCm39) D769G possibly damaging Het
Adcy6 G T 15: 98,502,096 (GRCm39) Q173K probably benign Het
Amotl1 G A 9: 14,460,069 (GRCm39) A890V probably benign Het
Arfgap2 C T 2: 91,097,706 (GRCm39) A141V probably benign Het
Asb2 G A 12: 103,291,811 (GRCm39) P324L probably damaging Het
Brd10 A G 19: 29,732,188 (GRCm39) S342P probably damaging Het
Cacna1g G A 11: 94,354,309 (GRCm39) T202I probably damaging Het
Capn5 A G 7: 97,782,098 (GRCm39) L214P probably damaging Het
Cdh20 A T 1: 104,902,776 (GRCm39) D489V possibly damaging Het
Cers5 C A 15: 99,644,905 (GRCm39) probably benign Het
Chct1 A G 11: 85,069,264 (GRCm39) H94R probably benign Het
Chrnb3 T A 8: 27,883,392 (GRCm39) V111D probably damaging Het
Clec2m T C 6: 129,303,786 (GRCm39) R60G probably benign Het
Colec12 C T 18: 9,858,921 (GRCm39) P568L unknown Het
Cyp2r1 T C 7: 114,149,643 (GRCm39) E248G probably damaging Het
Dnaaf11 A C 15: 66,325,950 (GRCm39) D208E probably benign Het
Dnmt3b A G 2: 153,516,938 (GRCm39) T536A probably benign Het
Eef2 G A 10: 81,016,126 (GRCm39) V496M possibly damaging Het
Fam118a T C 15: 84,930,081 (GRCm39) probably benign Het
Fer1l6 T A 15: 58,509,763 (GRCm39) probably null Het
Fhad1 A C 4: 141,682,651 (GRCm39) F497V probably benign Het
Gbe1 G A 16: 70,275,274 (GRCm39) G358D probably damaging Het
Gdf10 A G 14: 33,646,058 (GRCm39) D69G probably damaging Het
Ggt6 A G 11: 72,327,644 (GRCm39) H150R possibly damaging Het
Gm45713 A T 7: 44,783,882 (GRCm39) L110Q probably damaging Het
Gm9847 T C 12: 14,544,649 (GRCm39) noncoding transcript Het
Grwd1 T C 7: 45,480,054 (GRCm39) E51G probably damaging Het
Gvin3 A T 7: 106,201,028 (GRCm39) Y739N probably damaging Het
H13 A G 2: 152,522,987 (GRCm39) Y100C probably damaging Het
Kcne1 A C 16: 92,145,697 (GRCm39) M49R probably damaging Het
Kcnma1 C T 14: 23,576,835 (GRCm39) R236H probably damaging Het
Knl1 T A 2: 118,888,886 (GRCm39) probably benign Het
Krt40 T C 11: 99,432,565 (GRCm39) I150M probably damaging Het
Ldb2 A T 5: 44,630,841 (GRCm39) V300E probably damaging Het
Lrp1b A T 2: 40,615,919 (GRCm39) C3606S probably damaging Het
Lrrc42 A G 4: 107,104,917 (GRCm39) I16T probably damaging Het
Mtus1 G T 8: 41,455,398 (GRCm39) L87I possibly damaging Het
Myot T C 18: 44,470,053 (GRCm39) F10S probably damaging Het
Nrg3 A T 14: 38,098,413 (GRCm39) H480Q probably damaging Het
Or52b2 G A 7: 104,986,129 (GRCm39) R265C probably benign Het
Or5ac23 A T 16: 59,149,783 (GRCm39) F30I probably damaging Het
Prl2c5 A T 13: 13,366,390 (GRCm39) D220V probably damaging Het
Serpina6 A G 12: 103,613,172 (GRCm39) I376T probably damaging Het
Sh2d2a A T 3: 87,756,730 (GRCm39) T192S probably benign Het
Slc27a1 T C 8: 72,037,106 (GRCm39) Y417H possibly damaging Het
Slc6a1 T G 6: 114,281,813 (GRCm39) I32S possibly damaging Het
Sntb1 T C 15: 55,769,540 (GRCm39) T150A probably damaging Het
Tanc1 T A 2: 59,665,791 (GRCm39) C1183* probably null Het
Tmprss7 C A 16: 45,511,206 (GRCm39) W57C probably damaging Het
Ubac1 A T 2: 25,911,440 (GRCm39) V36E possibly damaging Het
Zfc3h1 T C 10: 115,242,630 (GRCm39) probably benign Het
Zfp644 C T 5: 106,784,771 (GRCm39) C592Y probably damaging Het
Other mutations in Rbm17
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02021:Rbm17 APN 2 11,600,249 (GRCm39) unclassified probably benign
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
R5887:Rbm17 UTSW 2 11,590,485 (GRCm39) missense probably damaging 1.00
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'- ATAGGCTACCAGTGGGACTTTGTGA -3'
(R):5'- GCCCTTCAGGAAGTGAAATGAGCA -3'

Sequencing Primer
(F):5'- CAGTGGGACTTTGTGAAAGCC -3'
(R):5'- tgggagcagagagtgatgag -3'
Posted On 2013-07-24