Incidental Mutation 'R4878:Rbm48'
ID 375050
Institutional Source Beutler Lab
Gene Symbol Rbm48
Ensembl Gene ENSMUSG00000040302
Gene Name RNA binding motif protein 48
Synonyms C030048B08Rik
MMRRC Submission 042487-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R4878 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 3633980-3646091 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) A to T at 3641853 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000142620 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000006061] [ENSMUST00000042753] [ENSMUST00000121291] [ENSMUST00000121877] [ENSMUST00000142516] [ENSMUST00000195894]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000006061
SMART Domains Protein: ENSMUSP00000006061
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.4e-53 PFAM
Pfam:PEX-1N 103 179 8.6e-27 PFAM
low complexity region 508 527 N/A INTRINSIC
AAA 552 702 1.39e-10 SMART
low complexity region 754 765 N/A INTRINSIC
AAA 834 970 4.07e-17 SMART
low complexity region 1024 1044 N/A INTRINSIC
low complexity region 1051 1061 N/A INTRINSIC
low complexity region 1065 1078 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000042753
SMART Domains Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302

DomainStartEndE-ValueType
Pfam:RRM_5 104 164 6.5e-11 PFAM
low complexity region 229 239 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121291
SMART Domains Protein: ENSMUSP00000113304
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 17 98 8.7e-38 PFAM
Pfam:PEX-1N 104 179 1.4e-27 PFAM
low complexity region 548 567 N/A INTRINSIC
AAA 592 742 1.39e-10 SMART
low complexity region 794 805 N/A INTRINSIC
AAA 874 1010 4.07e-17 SMART
low complexity region 1064 1084 N/A INTRINSIC
low complexity region 1091 1101 N/A INTRINSIC
low complexity region 1105 1118 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000121877
SMART Domains Protein: ENSMUSP00000112547
Gene: ENSMUSG00000040302

DomainStartEndE-ValueType
Blast:RRM 52 106 1e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124162
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135809
Predicted Effect probably benign
Transcript: ENSMUST00000176000
Predicted Effect probably benign
Transcript: ENSMUST00000142516
SMART Domains Protein: ENSMUSP00000116474
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
PDB:1WLF|A 1 21 5e-8 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000195894
SMART Domains Protein: ENSMUSP00000142620
Gene: ENSMUSG00000005907

DomainStartEndE-ValueType
Pfam:PEX-2N 14 99 2.5e-51 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 93.8%
Validation Efficiency 96% (70/73)
Allele List at MGI
Other mutations in this stock
Total: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl4 C A 4: 144,340,415 (GRCm39) H47N possibly damaging Het
Adgrg3 A T 8: 95,761,714 (GRCm39) N159I possibly damaging Het
Agrn A T 4: 156,255,302 (GRCm39) L1449Q probably damaging Het
Anks6 C T 4: 47,030,795 (GRCm39) G601S probably damaging Het
Atg2a A T 19: 6,300,274 (GRCm39) E694V probably damaging Het
Ccndbp1 T A 2: 120,845,172 (GRCm39) L363* probably null Het
Cdh16 A T 8: 105,344,696 (GRCm39) D478E probably damaging Het
Cep295 A T 9: 15,246,252 (GRCm39) W735R probably benign Het
Cnnm2 C T 19: 46,847,522 (GRCm39) P682S probably benign Het
Daam2 C A 17: 49,767,738 (GRCm39) R951L probably damaging Het
Dmxl1 T A 18: 49,984,543 (GRCm39) F180I probably damaging Het
Dnajc6 T C 4: 101,456,231 (GRCm39) probably benign Het
Efemp2 A T 19: 5,530,789 (GRCm39) probably benign Het
Emilin1 A G 5: 31,074,410 (GRCm39) D217G probably benign Het
Enpep A T 3: 129,070,420 (GRCm39) M829K probably benign Het
Epb41l4a A G 18: 33,931,625 (GRCm39) V623A probably damaging Het
Erlin2 T A 8: 27,517,194 (GRCm39) probably null Het
Fbln2 T C 6: 91,233,977 (GRCm39) probably null Het
Gga3 A T 11: 115,482,147 (GRCm39) I157N probably damaging Het
Gtpbp6 C T 5: 110,255,177 (GRCm39) probably benign Het
Hps4 T C 5: 112,523,234 (GRCm39) V584A probably benign Het
Ighv1-50 T C 12: 115,083,567 (GRCm39) Y51C probably benign Het
Kif13b T C 14: 65,043,603 (GRCm39) L1801P probably benign Het
Kif16b T C 2: 142,689,923 (GRCm39) I330V probably damaging Het
Klb A T 5: 65,505,833 (GRCm39) R27W probably damaging Het
Lrif1 A T 3: 106,642,956 (GRCm39) K169M probably damaging Het
Lrrc37 A G 11: 103,508,717 (GRCm39) probably benign Het
Met A G 6: 17,549,058 (GRCm39) D970G probably damaging Het
Mical3 A T 6: 120,946,348 (GRCm39) M1051K possibly damaging Het
Mios A G 6: 8,215,094 (GRCm39) N97D probably benign Het
Msh5 G A 17: 35,257,432 (GRCm39) R321C probably damaging Het
Mybpc1 T C 10: 88,387,292 (GRCm39) Q473R possibly damaging Het
Ncoa1 C T 12: 4,325,004 (GRCm39) G970D probably damaging Het
Neb T C 2: 52,109,406 (GRCm39) Y232C probably damaging Het
Nefh A G 11: 4,891,333 (GRCm39) S429P probably damaging Het
Notch3 C T 17: 32,366,059 (GRCm39) G1014D probably damaging Het
Nup107 A T 10: 117,587,323 (GRCm39) C859S probably benign Het
Or1d2 T C 11: 74,255,674 (GRCm39) Y60H probably damaging Het
Or2n1d T G 17: 38,646,518 (GRCm39) F157V probably benign Het
Or5m3b A G 2: 85,871,799 (GRCm39) I47V probably benign Het
Otud7b T A 3: 96,043,821 (GRCm39) probably benign Het
Pde1a A T 2: 79,708,483 (GRCm39) S312T probably benign Het
Piwil1 G T 5: 128,818,045 (GRCm39) R94L probably damaging Het
Pnma2 G A 14: 67,154,503 (GRCm39) W309* probably null Het
Ppef2 A C 5: 92,376,599 (GRCm39) probably null Het
Rabac1 T A 7: 24,669,392 (GRCm39) Q212L possibly damaging Het
Rad51 T C 2: 118,950,973 (GRCm39) probably benign Het
Rft1 C T 14: 30,399,761 (GRCm39) S315L probably benign Het
Rgs13 C T 1: 144,047,217 (GRCm39) M1I probably null Het
Rhbg A C 3: 88,154,760 (GRCm39) S215A probably benign Het
Rufy2 A T 10: 62,837,990 (GRCm39) N379I probably damaging Het
Slc17a1 T C 13: 24,064,637 (GRCm39) L367P probably damaging Het
Slc25a39 G A 11: 102,294,501 (GRCm39) R308C probably benign Het
Smo A G 6: 29,753,570 (GRCm39) T149A probably benign Het
Sqle A G 15: 59,187,934 (GRCm39) K81E probably benign Het
Tfpi A G 2: 84,282,899 (GRCm39) probably null Het
Tnk2 A G 16: 32,498,448 (GRCm39) D572G probably damaging Het
Ubr5 A T 15: 38,006,808 (GRCm39) M1149K probably benign Het
Utrn T A 10: 12,603,502 (GRCm39) Q626L probably damaging Het
Virma T A 4: 11,544,971 (GRCm39) H1643Q probably damaging Het
Wnt3 G T 11: 103,699,031 (GRCm39) G46C possibly damaging Het
Zkscan7 G T 9: 122,719,865 (GRCm39) G184* probably null Het
Other mutations in Rbm48
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00851:Rbm48 APN 5 3,641,739 (GRCm39) missense probably damaging 0.99
IGL01085:Rbm48 APN 5 3,634,762 (GRCm39) missense probably benign 0.38
IGL02605:Rbm48 APN 5 3,640,600 (GRCm39) missense possibly damaging 0.53
R0811:Rbm48 UTSW 5 3,641,760 (GRCm39) splice site probably null
R0812:Rbm48 UTSW 5 3,641,760 (GRCm39) splice site probably null
R0862:Rbm48 UTSW 5 3,640,438 (GRCm39) missense probably benign 0.34
R1866:Rbm48 UTSW 5 3,645,997 (GRCm39) missense probably damaging 1.00
R1876:Rbm48 UTSW 5 3,645,259 (GRCm39) missense probably damaging 1.00
R3029:Rbm48 UTSW 5 3,646,043 (GRCm39) missense possibly damaging 0.70
R3159:Rbm48 UTSW 5 3,646,105 (GRCm39) missense possibly damaging 0.87
R4385:Rbm48 UTSW 5 3,640,300 (GRCm39) missense probably damaging 1.00
R5176:Rbm48 UTSW 5 3,645,444 (GRCm39) missense probably damaging 1.00
R5276:Rbm48 UTSW 5 3,634,759 (GRCm39) missense probably benign
R6812:Rbm48 UTSW 5 3,646,105 (GRCm39) missense probably benign 0.23
R7059:Rbm48 UTSW 5 3,640,625 (GRCm39) nonsense probably null
R7993:Rbm48 UTSW 5 3,640,470 (GRCm39) missense probably benign 0.14
R8994:Rbm48 UTSW 5 3,640,795 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- TCCTAGCAGTGCCTGATACAC -3'
(R):5'- TGTCTAACTCTAGCTCCAGGC -3'

Sequencing Primer
(F):5'- GTTAACACACACTTTCCATACCTTG -3'
(R):5'- CCAGATCTATATAGTGAGGCCCTG -3'
Posted On 2016-03-17