Incidental Mutation 'R2859:Rbm17'
ID 252612
Institutional Source Beutler Lab
Gene Symbol Rbm17
Ensembl Gene ENSMUSG00000037197
Gene Name RNA binding motif protein 17
Synonyms 2700027J02Rik
MMRRC Submission 040449-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.966) question?
Stock # R2859 (G1)
Quality Score 225
Status Validated
Chromosome 2
Chromosomal Location 11590250-11608061 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 11595515 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 230 (F230S)
Ref Sequence ENSEMBL: ENSMUSP00000041831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000040314]
AlphaFold Q8JZX4
Predicted Effect possibly damaging
Transcript: ENSMUST00000040314
AA Change: F230S

PolyPhen 2 Score 0.841 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000041831
Gene: ENSMUSG00000037197
AA Change: F230S

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 0.1337 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.1%
Validation Efficiency 100% (40/40)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 T C 17: 24,500,288 (GRCm39) Y1301C possibly damaging Het
Amfr A T 8: 94,731,842 (GRCm39) N11K probably damaging Het
Cadm3 A G 1: 173,174,112 (GRCm39) S34P possibly damaging Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,619,782 (GRCm39) probably benign Het
Cdh23 C T 10: 60,218,432 (GRCm39) probably null Het
Ceacam1 T A 7: 25,173,442 (GRCm39) I249F probably damaging Het
Cuzd1 C T 7: 130,917,863 (GRCm39) V246M probably damaging Het
Ehd2 A T 7: 15,698,054 (GRCm39) V61E probably damaging Het
Fibin C T 2: 110,192,542 (GRCm39) R200H probably damaging Het
Fmo9 A C 1: 166,501,236 (GRCm39) F237C probably damaging Het
Garin3 T C 11: 46,296,039 (GRCm39) I137T probably damaging Het
Hivep2 C A 10: 14,004,713 (GRCm39) T437K probably benign Het
Iqgap3 C A 3: 88,014,903 (GRCm39) S873* probably null Het
Ism2 T C 12: 87,346,437 (GRCm39) M15V unknown Het
Itk T G 11: 46,235,662 (GRCm39) probably benign Het
Mastl C A 2: 23,029,979 (GRCm39) C249F probably damaging Het
Mink1 T C 11: 70,503,334 (GRCm39) V1143A probably damaging Het
Mrgprb4 T A 7: 47,848,084 (GRCm39) R281S possibly damaging Het
Mthfd1 T C 12: 76,335,699 (GRCm39) Y258H probably damaging Het
Ntmt1 A G 2: 30,712,377 (GRCm39) H140R probably damaging Het
Or1j12 T C 2: 36,343,142 (GRCm39) S182P probably benign Het
Or3a10 C T 11: 73,935,653 (GRCm39) G149D possibly damaging Het
Or3a1b T C 11: 74,012,808 (GRCm39) I231T probably damaging Het
Or9e1 T A 11: 58,732,708 (GRCm39) V256E probably benign Het
Parm1 A G 5: 91,742,165 (GRCm39) T178A possibly damaging Het
Patl1 T C 19: 11,901,195 (GRCm39) F282L probably damaging Het
Phospho2 T C 2: 69,626,195 (GRCm39) V117A possibly damaging Het
Ppp4r3a T C 12: 101,008,906 (GRCm39) probably null Het
Pramel29 A G 4: 143,936,192 (GRCm39) S23P probably benign Het
Robo3 C A 9: 37,339,400 (GRCm39) G196* probably null Het
Samhd1 A G 2: 156,948,149 (GRCm39) probably null Het
Setx GTGGCT GT 2: 29,044,073 (GRCm39) 1814 probably null Het
Thbs4 A G 13: 92,927,216 (GRCm39) F91S probably benign Het
Trim34b A T 7: 103,985,439 (GRCm39) N358I probably benign Het
Ulk1 A G 5: 110,942,495 (GRCm39) L255P probably damaging Het
Vmn2r104 T A 17: 20,268,455 (GRCm39) I5F possibly damaging Het
Vrk2 C A 11: 26,433,324 (GRCm39) S286I possibly damaging Het
Zswim3 T C 2: 164,662,309 (GRCm39) L263P 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
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'- CACTCAGCATGGTATGAAACAC -3'
(R):5'- TTTCGCAGAGCTGAGTGAG -3'

Sequencing Primer
(F):5'- GTATTGCTCTAGAAATCCAAGTGG -3'
(R):5'- CTGAGTGAGCCTGCTTTGC -3'
Posted On 2014-12-04