Incidental Mutation 'IGL02814:Rbm15b'
ID 360711
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm15b
Ensembl Gene ENSMUSG00000074102
Gene Name RNA binding motif protein 15B
Synonyms 1810017N16Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.494) question?
Stock # IGL02814
Quality Score
Status
Chromosome 9
Chromosomal Location 106758127-106764274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106762975 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 398 (I398V)
Ref Sequence ENSEMBL: ENSMUSP00000059330 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055843] [ENSMUST00000069036] [ENSMUST00000159283] [ENSMUST00000161758]
AlphaFold Q6PHZ5
PDB Structure Solution structure of the RNA recognition motif from hypothetical RNA binding protein BC052180 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000055843
AA Change: I398V

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: I398V

DomainStartEndE-ValueType
low complexity region 5 41 N/A INTRINSIC
low complexity region 53 75 N/A INTRINSIC
low complexity region 78 133 N/A INTRINSIC
RRM 137 212 2.47e-2 SMART
low complexity region 216 251 N/A INTRINSIC
low complexity region 266 299 N/A INTRINSIC
RRM 334 406 2.03e-15 SMART
RRM 415 484 3.57e-11 SMART
low complexity region 653 675 N/A INTRINSIC
Pfam:SPOC 719 854 1.7e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069036
SMART Domains Protein: ENSMUSP00000066534
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 13 165 3.2e-77 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159283
SMART Domains Protein: ENSMUSP00000124562
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Armet 26 171 9.1e-74 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000159620
SMART Domains Protein: ENSMUSP00000123907
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 18 120 1.7e-44 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000160503
SMART Domains Protein: ENSMUSP00000124453
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 17 118 1.6e-44 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000160978
SMART Domains Protein: ENSMUSP00000124791
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
Pfam:Armet 26 124 1.6e-46 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000161272
SMART Domains Protein: ENSMUSP00000125424
Gene: ENSMUSG00000032575

DomainStartEndE-ValueType
Pfam:Armet 1 51 2.5e-21 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162801
Predicted Effect probably benign
Transcript: ENSMUST00000161758
SMART Domains Protein: ENSMUSP00000125730
Gene: ENSMUSG00000040325

DomainStartEndE-ValueType
low complexity region 175 191 N/A INTRINSIC
low complexity region 201 212 N/A INTRINSIC
low complexity region 591 605 N/A INTRINSIC
LisH 845 877 1.77e-3 SMART
low complexity region 920 945 N/A INTRINSIC
PDB:4PXW|B 1038 1398 N/A PDB
SCOP:d1tbga_ 1063 1308 3e-19 SMART
Blast:WD40 1078 1120 3e-22 BLAST
Blast:WD40 1123 1164 7e-19 BLAST
low complexity region 1399 1458 N/A INTRINSIC
low complexity region 1463 1489 N/A INTRINSIC
PDB:4P7I|D 1490 1512 2e-6 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000185707
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Members of the SPEN (Split-end) family of proteins, including RBM15B, have repressor function in several signaling pathways and may bind to RNA through interaction with spliceosome components (Hiriart et al., 2005 [PubMed 16129689]).[supplied by OMIM, Feb 2009]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca9 A T 11: 110,045,293 (GRCm39) F347I possibly damaging Het
Adcy5 A G 16: 35,124,019 (GRCm39) T1233A probably benign Het
Blnk C T 19: 40,950,873 (GRCm39) D93N probably damaging Het
Cadps2 T C 6: 23,321,706 (GRCm39) E1083G probably damaging Het
Capn8 C A 1: 182,426,336 (GRCm39) L224M probably damaging Het
Cdh4 A T 2: 179,422,267 (GRCm39) E130D probably benign Het
Cgn G A 3: 94,681,550 (GRCm39) T515M probably benign Het
Chrna10 C T 7: 101,761,469 (GRCm39) G374D probably benign Het
Chrnb1 T A 11: 69,686,506 (GRCm39) Y38F probably damaging Het
Cyld A G 8: 89,471,525 (GRCm39) D621G probably benign Het
Cyp4f37 T C 17: 32,853,645 (GRCm39) F443S probably benign Het
Dctn1 C A 6: 83,166,896 (GRCm39) A152E probably damaging Het
Eml4 T A 17: 83,748,791 (GRCm39) Y228* probably null Het
Fbln2 T A 6: 91,242,839 (GRCm39) C846* probably null Het
Fut2 C T 7: 45,300,193 (GRCm39) G193E possibly damaging Het
Gart T C 16: 91,420,345 (GRCm39) S833G possibly damaging Het
Gda T C 19: 21,405,839 (GRCm39) probably null Het
Gjb5 C T 4: 127,249,355 (GRCm39) R263Q probably benign Het
Gtf2i T C 5: 134,315,558 (GRCm39) K193E probably damaging Het
H4c14 C A 3: 96,170,603 (GRCm39) K6N probably benign Het
Ints1 C T 5: 139,758,146 (GRCm39) E244K possibly damaging Het
Kat14 G A 2: 144,244,383 (GRCm39) S412N probably benign Het
Kcnn3 A T 3: 89,428,482 (GRCm39) H236L possibly damaging Het
Kif15 T A 9: 122,832,705 (GRCm39) I1005K possibly damaging Het
Klrc1 T C 6: 129,655,855 (GRCm39) T7A possibly damaging Het
Lcp2 T C 11: 34,021,033 (GRCm39) S130P probably damaging Het
Ldha T A 7: 46,500,315 (GRCm39) Y133* probably null Het
Lrp2 A G 2: 69,337,080 (GRCm39) C1231R probably damaging Het
Lrrn1 T A 6: 107,544,313 (GRCm39) V37D probably damaging Het
Mep1a T A 17: 43,788,112 (GRCm39) H648L probably benign Het
Mmp25 C T 17: 23,858,736 (GRCm39) G272R probably damaging Het
Myh15 A G 16: 48,965,801 (GRCm39) probably benign Het
Myl3 G T 9: 110,597,059 (GRCm39) E140* probably null Het
Nlrp4f A G 13: 65,332,856 (GRCm39) S809P probably damaging Het
Nrde2 T C 12: 100,110,394 (GRCm39) I207M probably null Het
Or13a26 T C 7: 140,285,046 (GRCm39) L294P probably damaging Het
Or2y8 C T 11: 52,035,637 (GRCm39) C240Y probably damaging Het
Or5p54 T C 7: 107,553,977 (GRCm39) I43T probably benign Het
Paics T G 5: 77,110,320 (GRCm39) V245G probably damaging Het
Pank1 A G 19: 34,818,255 (GRCm39) F95L probably damaging Het
Pde4dip A C 3: 97,674,416 (GRCm39) C167G probably damaging Het
Picalm C A 7: 89,840,957 (GRCm39) T542K possibly damaging Het
Piezo1 A G 8: 123,224,954 (GRCm39) Y651H probably damaging Het
Pikfyve T A 1: 65,289,353 (GRCm39) C1208* probably null Het
Pkd1l1 T A 11: 8,852,582 (GRCm39) T634S probably benign Het
Rab32 T C 10: 10,422,171 (GRCm39) T183A probably benign Het
Rad18 T C 6: 112,621,583 (GRCm39) I206V possibly damaging Het
Rbm28 T C 6: 29,159,725 (GRCm39) E101G probably benign Het
Rsf1 T C 7: 97,310,434 (GRCm39) L388P probably damaging Het
Scnn1g A G 7: 121,339,588 (GRCm39) Y129C probably damaging Het
Slc7a13 G A 4: 19,839,387 (GRCm39) C330Y probably benign Het
Spock1 A T 13: 57,735,486 (GRCm39) V101E probably damaging Het
Sympk T A 7: 18,787,198 (GRCm39) W1029R probably damaging Het
Syne2 T A 12: 75,992,150 (GRCm39) H2008Q possibly damaging Het
Tgs1 T A 4: 3,585,719 (GRCm39) Y199N probably damaging Het
Trim10 T A 17: 37,188,228 (GRCm39) C481* probably null Het
Vmn2r102 A G 17: 19,898,170 (GRCm39) E395G probably damaging Het
Wfs1 A C 5: 37,125,013 (GRCm39) V626G possibly damaging Het
Zfp689 A G 7: 127,044,193 (GRCm39) S146P possibly damaging Het
Zfp786 T C 6: 47,796,775 (GRCm39) H721R probably damaging Het
Zfta C A 19: 7,397,787 (GRCm39) N111K possibly damaging Het
Other mutations in Rbm15b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01660:Rbm15b APN 9 106,762,908 (GRCm39) missense probably damaging 1.00
IGL02514:Rbm15b APN 9 106,762,176 (GRCm39) missense probably damaging 0.96
IGL02585:Rbm15b APN 9 106,763,025 (GRCm39) missense probably benign 0.22
IGL03110:Rbm15b APN 9 106,763,173 (GRCm39) missense probably damaging 1.00
IGL03335:Rbm15b APN 9 106,761,538 (GRCm39) missense probably damaging 0.99
R0004:Rbm15b UTSW 9 106,762,135 (GRCm39) missense probably benign 0.02
R0234:Rbm15b UTSW 9 106,762,563 (GRCm39) missense probably damaging 1.00
R0234:Rbm15b UTSW 9 106,762,563 (GRCm39) missense probably damaging 1.00
R0390:Rbm15b UTSW 9 106,763,197 (GRCm39) missense probably benign 0.03
R1981:Rbm15b UTSW 9 106,758,822 (GRCm39) unclassified probably benign
R2966:Rbm15b UTSW 9 106,762,791 (GRCm39) missense probably damaging 1.00
R4085:Rbm15b UTSW 9 106,762,936 (GRCm39) missense possibly damaging 0.80
R4890:Rbm15b UTSW 9 106,763,028 (GRCm39) missense possibly damaging 0.86
R5081:Rbm15b UTSW 9 106,762,120 (GRCm39) missense probably benign 0.01
R5118:Rbm15b UTSW 9 106,763,301 (GRCm39) missense possibly damaging 0.65
R5513:Rbm15b UTSW 9 106,763,316 (GRCm39) missense probably benign 0.02
R7341:Rbm15b UTSW 9 106,762,246 (GRCm39) missense probably benign 0.35
R7711:Rbm15b UTSW 9 106,763,142 (GRCm39) missense possibly damaging 0.67
R7842:Rbm15b UTSW 9 106,763,088 (GRCm39) missense probably damaging 1.00
R8327:Rbm15b UTSW 9 106,761,646 (GRCm39) missense probably benign 0.00
R8372:Rbm15b UTSW 9 106,762,762 (GRCm39) missense
R8855:Rbm15b UTSW 9 106,763,595 (GRCm39) missense probably benign 0.15
R8866:Rbm15b UTSW 9 106,763,595 (GRCm39) missense probably benign 0.15
R9201:Rbm15b UTSW 9 106,762,218 (GRCm39) missense unknown
X0024:Rbm15b UTSW 9 106,762,578 (GRCm39) missense probably benign 0.15
Posted On 2015-12-18