Incidental Mutation 'R5434:Rbm15'
ID 428196
Institutional Source Beutler Lab
Gene Symbol Rbm15
Ensembl Gene ENSMUSG00000048109
Gene Name RNA binding motif protein 15
Synonyms C230088J01Rik
MMRRC Submission 042999-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5434 (G1)
Quality Score 225
Status Validated
Chromosome 3
Chromosomal Location 107232737-107240989 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 107237783 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 872 (S872P)
Ref Sequence ENSEMBL: ENSMUSP00000054424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061772]
AlphaFold Q0VBL3
Predicted Effect possibly damaging
Transcript: ENSMUST00000061772
AA Change: S872P

PolyPhen 2 Score 0.697 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000054424
Gene: ENSMUSG00000048109
AA Change: S872P

DomainStartEndE-ValueType
low complexity region 6 22 N/A INTRINSIC
low complexity region 56 96 N/A INTRINSIC
low complexity region 114 129 N/A INTRINSIC
low complexity region 133 163 N/A INTRINSIC
RRM 170 247 7.49e-5 SMART
low complexity region 268 278 N/A INTRINSIC
low complexity region 284 296 N/A INTRINSIC
low complexity region 313 330 N/A INTRINSIC
RRM 374 446 1.33e-10 SMART
RRM 455 524 2.51e-6 SMART
low complexity region 532 542 N/A INTRINSIC
low complexity region 564 582 N/A INTRINSIC
low complexity region 592 606 N/A INTRINSIC
internal_repeat_2 613 685 7.13e-5 PROSPERO
internal_repeat_2 677 753 7.13e-5 PROSPERO
low complexity region 754 771 N/A INTRINSIC
Pfam:SPOC 789 925 1.7e-33 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197769
Meta Mutation Damage Score 0.0990 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (57/57)
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 RBM15, 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]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit embryonic lethality around E9.5. Mice homozygous for a floxed allele activate in hematopoietic cells exhibit increased megakaryocyte cell number, long-term hematopoietic stem cells, and red pulp as well as decreased B cells and leukocytes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl6 G T 9: 20,786,821 (GRCm39) Q301K probably damaging Het
Ankfn1 T C 11: 89,344,013 (GRCm39) Y323C probably damaging Het
Arid5b T A 10: 67,932,719 (GRCm39) H818L possibly damaging Het
Atg13 G T 2: 91,515,110 (GRCm39) probably null Het
Bltp1 A C 3: 36,929,665 (GRCm39) D94A probably damaging Het
Bop1 T C 15: 76,339,611 (GRCm39) M245V probably benign Het
Ces2a T A 8: 105,464,041 (GRCm39) F224L probably damaging Het
Cntnap5b A G 1: 99,999,926 (GRCm39) H228R probably benign Het
Col9a2 A T 4: 120,898,162 (GRCm39) R25* probably null Het
Dcaf12 G T 4: 41,302,744 (GRCm39) T137N probably benign Het
Dennd4c A G 4: 86,729,693 (GRCm39) N765S probably benign Het
Dnah12 A G 14: 26,581,256 (GRCm39) Y3162C probably damaging Het
Dpf1 G T 7: 29,010,756 (GRCm39) C123F possibly damaging Het
Flvcr1 C A 1: 190,758,206 (GRCm39) A29S probably benign Het
Frmd3 A T 4: 74,106,033 (GRCm39) I560F probably damaging Het
Galnt15 G A 14: 31,771,800 (GRCm39) V282I possibly damaging Het
Gm14412 A T 2: 177,006,405 (GRCm39) C497S probably damaging Het
Gm20830 A T Y: 6,916,464 (GRCm39) Y218* probably null Het
Hmcn2 C A 2: 31,310,375 (GRCm39) T3323N probably damaging Het
Idh1 T A 1: 65,214,495 (GRCm39) Q6L probably benign Het
Kansl2-ps A G 7: 72,322,813 (GRCm39) noncoding transcript Het
Kcnj10 T A 1: 172,197,047 (GRCm39) V187E probably damaging Het
Khnyn A G 14: 56,124,957 (GRCm39) T404A probably damaging Het
Lrp1b T A 2: 41,660,880 (GRCm39) N76I probably damaging Het
Lrrc9 G A 12: 72,500,862 (GRCm39) C196Y probably damaging Het
Ltbr G A 6: 125,289,757 (GRCm39) R146W probably damaging Het
Mgp T A 6: 136,849,772 (GRCm39) N62I probably benign Het
Ms4a6c T A 19: 11,448,588 (GRCm39) H40Q probably benign Het
Necab3 A G 2: 154,389,379 (GRCm39) S121P probably damaging Het
Nfkb1 T A 3: 135,332,372 (GRCm39) K128* probably null Het
Nr4a3 A T 4: 48,067,861 (GRCm39) R486W probably damaging Het
Nwd2 A G 5: 63,964,991 (GRCm39) K1525R probably benign Het
Odad2 T C 18: 7,222,550 (GRCm39) K573R probably benign Het
Pbrm1 G T 14: 30,806,968 (GRCm39) D1085Y probably damaging Het
R3hdm4 C T 10: 79,748,292 (GRCm39) E162K possibly damaging Het
Retsat A G 6: 72,578,518 (GRCm39) I77V probably damaging Het
Rpl32 A G 6: 115,783,996 (GRCm39) F77L probably benign Het
Ryr3 A T 2: 112,624,814 (GRCm39) V2202D probably damaging Het
Sars2 G A 7: 28,449,716 (GRCm39) R387Q probably null Het
Serpinb3d G T 1: 107,006,263 (GRCm39) T275N probably benign Het
Sf3a1 C A 11: 4,124,041 (GRCm39) P296Q probably damaging Het
Sh3bgr A G 16: 96,025,744 (GRCm39) probably benign Het
St3gal3 A G 4: 117,797,247 (GRCm39) L332P probably damaging Het
Ston1 A G 17: 88,952,739 (GRCm39) probably benign Het
Syne2 T A 12: 76,018,649 (GRCm39) S3383T probably damaging Het
Tektl1 A T 10: 78,584,484 (GRCm39) L346* probably null Het
Tnfsf14 A G 17: 57,499,592 (GRCm39) S87P probably benign Het
Trap1 T C 16: 3,862,529 (GRCm39) D583G probably benign Het
Ube3d A T 9: 86,309,460 (GRCm39) I212N possibly damaging Het
Usp34 T A 11: 23,362,271 (GRCm39) D1572E probably damaging Het
Vmn1r179 A T 7: 23,628,387 (GRCm39) T193S probably benign Het
Vmn2r111 C A 17: 22,767,470 (GRCm39) V676L probably damaging Het
Wee1 TCCCC TCCC 7: 109,723,776 (GRCm39) probably null Het
Wls C T 3: 159,639,976 (GRCm39) R536C probably damaging Het
Zfhx3 A G 8: 109,519,031 (GRCm39) D51G probably damaging Het
Other mutations in Rbm15
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01370:Rbm15 APN 3 107,238,326 (GRCm39) missense probably damaging 0.98
IGL01933:Rbm15 APN 3 107,238,419 (GRCm39) missense probably damaging 0.99
IGL02116:Rbm15 APN 3 107,237,596 (GRCm39) missense probably damaging 1.00
IGL02886:Rbm15 APN 3 107,233,611 (GRCm39) missense probably benign 0.41
Dare UTSW 3 107,239,627 (GRCm39) missense probably benign 0.07
Goad UTSW 3 107,238,966 (GRCm39) missense probably damaging 1.00
R0281:Rbm15 UTSW 3 107,238,471 (GRCm39) missense probably damaging 0.99
R0374:Rbm15 UTSW 3 107,237,880 (GRCm39) missense probably damaging 1.00
R0376:Rbm15 UTSW 3 107,238,254 (GRCm39) missense probably benign 0.00
R0501:Rbm15 UTSW 3 107,239,846 (GRCm39) missense possibly damaging 0.91
R0517:Rbm15 UTSW 3 107,238,685 (GRCm39) missense probably damaging 1.00
R1347:Rbm15 UTSW 3 107,239,946 (GRCm39) missense possibly damaging 0.53
R1347:Rbm15 UTSW 3 107,239,946 (GRCm39) missense possibly damaging 0.53
R1348:Rbm15 UTSW 3 107,239,946 (GRCm39) missense possibly damaging 0.53
R1372:Rbm15 UTSW 3 107,239,946 (GRCm39) missense possibly damaging 0.53
R1373:Rbm15 UTSW 3 107,239,946 (GRCm39) missense possibly damaging 0.53
R1377:Rbm15 UTSW 3 107,238,074 (GRCm39) missense probably benign
R1616:Rbm15 UTSW 3 107,238,197 (GRCm39) missense probably benign
R1708:Rbm15 UTSW 3 107,238,536 (GRCm39) missense probably damaging 1.00
R1944:Rbm15 UTSW 3 107,238,868 (GRCm39) missense probably damaging 1.00
R2519:Rbm15 UTSW 3 107,238,149 (GRCm39) missense probably benign 0.08
R3432:Rbm15 UTSW 3 107,237,993 (GRCm39) missense probably benign 0.32
R4885:Rbm15 UTSW 3 107,239,570 (GRCm39) missense probably benign 0.25
R6915:Rbm15 UTSW 3 107,239,627 (GRCm39) missense probably benign 0.07
R7336:Rbm15 UTSW 3 107,240,432 (GRCm39) start gained probably benign
R7799:Rbm15 UTSW 3 107,239,459 (GRCm39) missense probably damaging 0.98
R8115:Rbm15 UTSW 3 107,238,966 (GRCm39) missense probably damaging 1.00
R8840:Rbm15 UTSW 3 107,240,305 (GRCm39) missense probably benign 0.33
R8943:Rbm15 UTSW 3 107,239,372 (GRCm39) missense possibly damaging 0.92
R9090:Rbm15 UTSW 3 107,239,312 (GRCm39) missense possibly damaging 0.89
R9271:Rbm15 UTSW 3 107,239,312 (GRCm39) missense possibly damaging 0.89
R9381:Rbm15 UTSW 3 107,238,752 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTGCTGAGAGAACTCACAAGG -3'
(R):5'- GCAACTTCCCTTCCAACATG -3'

Sequencing Primer
(F):5'- CTCACAAGGTGGGAAGGCATG -3'
(R):5'- TGACCTCCAAGTTGCTAGCAG -3'
Posted On 2016-09-01