Incidental Mutation 'R4085:Rbm15b'
ID 317093
Institutional Source Beutler Lab
Gene Symbol Rbm15b
Ensembl Gene ENSMUSG00000074102
Gene Name RNA binding motif protein 15B
Synonyms 1810017N16Rik
MMRRC Submission 040979-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.487) question?
Stock # R4085 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 106758127-106764274 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 106762936 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 411 (N411D)
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 possibly damaging
Transcript: ENSMUST00000055843
AA Change: N411D

PolyPhen 2 Score 0.804 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000059330
Gene: ENSMUSG00000074102
AA Change: N411D

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
Meta Mutation Damage Score 0.1143 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 98% (59/60)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Abca15 T C 7: 119,981,949 (GRCm39) V1088A probably damaging Het
Adgrl3 A G 5: 81,660,391 (GRCm39) I319V probably benign Het
Atraid A T 5: 31,209,650 (GRCm39) probably benign Het
Aurkaip1 A T 4: 155,917,362 (GRCm39) K172N probably benign Het
Bicd2 T A 13: 49,538,438 (GRCm39) probably null Het
Ccr1 C T 9: 123,763,987 (GRCm39) R181H probably benign Het
Cep250 G A 2: 155,834,552 (GRCm39) R2159K probably damaging Het
Cldn34c4 A T X: 126,629,011 (GRCm39) V153E probably damaging Het
Col4a4 C A 1: 82,448,909 (GRCm39) probably null Het
Coro1b T C 19: 4,203,618 (GRCm39) V451A probably benign Het
Dcc T A 18: 71,959,240 (GRCm39) Q177H probably benign Het
Ddx4 A G 13: 112,750,295 (GRCm39) V386A probably benign Het
Dynlrb1 G T 2: 155,091,896 (GRCm39) probably benign Het
Ehbp1 A T 11: 22,045,898 (GRCm39) L592Q possibly damaging Het
Fam20b T C 1: 156,533,445 (GRCm39) D57G probably benign Het
Fbxo33 A G 12: 59,247,591 (GRCm39) probably benign Het
Fndc4 A G 5: 31,451,121 (GRCm39) I190T probably damaging Het
Gad1 G T 2: 70,420,192 (GRCm39) A359S probably benign Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm43517 A G 12: 49,437,897 (GRCm39) probably benign Het
Hectd1 A T 12: 51,821,533 (GRCm39) V1052D possibly damaging Het
Herc6 G A 6: 57,624,054 (GRCm39) C608Y probably benign Het
Itpr2 T A 6: 146,045,746 (GRCm39) D2573V probably damaging Het
Kank2 A G 9: 21,706,415 (GRCm39) L201P probably damaging Het
Kdm1a A C 4: 136,279,273 (GRCm39) Y762* probably null Het
Mef2c C T 13: 83,723,821 (GRCm39) T9M probably damaging Het
Ndst4 A G 3: 125,403,131 (GRCm39) I413V probably benign Het
Nlrp1b T C 11: 71,052,588 (GRCm39) T947A probably damaging Het
Nlrp5 C A 7: 23,129,523 (GRCm39) N863K probably damaging Het
Opn1sw A G 6: 29,380,143 (GRCm39) I91T possibly damaging Het
Or2y13 T C 11: 49,414,955 (GRCm39) I135T probably benign Het
Pmfbp1 A G 8: 110,221,579 (GRCm39) K15E possibly damaging Het
Ppp3cb A G 14: 20,558,611 (GRCm39) C484R possibly damaging Het
Rassf2 C A 2: 131,846,299 (GRCm39) G153C probably damaging Het
Rbm47 A G 5: 66,180,080 (GRCm39) M409T probably benign Het
Sall1 C T 8: 89,755,137 (GRCm39) V1281M probably benign Het
Sall3 A T 18: 81,015,348 (GRCm39) M860K probably damaging Het
Sik2 A T 9: 50,846,685 (GRCm39) probably benign Het
Sim2 A G 16: 93,910,213 (GRCm39) Y205C possibly damaging Het
Styxl1 G A 5: 135,788,019 (GRCm39) T92I unknown Het
Sypl2 A G 3: 108,124,992 (GRCm39) I123T possibly damaging Het
Taok2 T C 7: 126,473,897 (GRCm39) E403G possibly damaging Het
Tedc2 A T 17: 24,438,813 (GRCm39) V168E probably benign Het
Tle6 A G 10: 81,430,349 (GRCm39) probably null Het
Traf3ip3 A G 1: 192,863,628 (GRCm39) V414A probably damaging Het
Trim14 T A 4: 46,523,709 (GRCm39) T110S probably benign Het
Ucp1 T C 8: 84,020,580 (GRCm39) I130T probably benign Het
Urb2 A G 8: 124,757,680 (GRCm39) H1129R probably benign Het
Vmn2r111 C T 17: 22,778,096 (GRCm39) G528R probably benign Het
Wbp2nl A G 15: 82,192,762 (GRCm39) M149V probably benign Het
Xdh A T 17: 74,223,874 (GRCm39) M506K probably benign 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
IGL02814:Rbm15b APN 9 106,762,975 (GRCm39) missense probably benign 0.12
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
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
Predicted Primers PCR Primer
(F):5'- AGCCCCTCATTTTAGCACAGG -3'
(R):5'- AACCTGGACCACAGTGTTTCTG -3'

Sequencing Primer
(F):5'- TCATTTTAGCACAGGCAGCC -3'
(R):5'- ACGGGCCTTCGAGAAGTAC -3'
Posted On 2015-05-15