Incidental Mutation 'R6812:Rbm48'
ID 533837
Institutional Source Beutler Lab
Gene Symbol Rbm48
Ensembl Gene ENSMUSG00000040302
Gene Name RNA binding motif protein 48
Synonyms C030048B08Rik
MMRRC Submission 044924-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.922) question?
Stock # R6812 (G1)
Quality Score 225.009
Status Validated
Chromosome 5
Chromosomal Location 3633980-3646091 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3646105 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 33 (V33A)
Ref Sequence ENSEMBL: ENSMUSP00000112547 (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
AA Change: V33A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000040952
Gene: ENSMUSG00000040302
AA Change: V33A

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
AA Change: V33A

PolyPhen 2 Score 0.227 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000112547
Gene: ENSMUSG00000040302
AA Change: V33A

DomainStartEndE-ValueType
Blast:RRM 52 106 1e-18 BLAST
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: ENSMUST00000176000
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: 99.9%
  • 3x: 99.8%
  • 10x: 99.0%
  • 20x: 97.4%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrg7 C T 16: 56,616,161 (GRCm39) probably benign Het
Ak9 A T 10: 41,243,163 (GRCm39) M686L unknown Het
Ap3b1 A T 13: 94,616,369 (GRCm39) T757S unknown Het
Apob A T 12: 8,033,062 (GRCm39) K139N probably damaging Het
Arid4a A G 12: 71,094,037 (GRCm39) E270G possibly damaging Het
Atp1a2 A T 1: 172,112,444 (GRCm39) C515S probably benign Het
Bicd1 T C 6: 149,311,035 (GRCm39) Y37H probably damaging Het
Birc2 T G 9: 7,854,418 (GRCm39) D424A probably damaging Het
Ccdc97 A T 7: 25,412,469 (GRCm39) F324L probably damaging Het
Crim1 T A 17: 78,623,029 (GRCm39) I409N probably damaging Het
Cul7 T A 17: 46,972,335 (GRCm39) I1233N probably benign Het
Dcaf1 T C 9: 106,735,268 (GRCm39) S739P probably damaging Het
Ddb1 T C 19: 10,599,863 (GRCm39) probably null Het
Dennd5b T C 6: 148,982,630 (GRCm39) probably benign Het
Dna2 A G 10: 62,795,120 (GRCm39) S464G probably benign Het
Dnah9 C T 11: 65,872,155 (GRCm39) V2692M probably damaging Het
Dvl2 T C 11: 69,891,821 (GRCm39) Y55H probably damaging Het
Eif4g3 G T 4: 137,830,687 (GRCm39) Q140H probably damaging Het
Enpp5 G A 17: 44,396,467 (GRCm39) V460M probably benign Het
Etv2 G T 7: 30,333,426 (GRCm39) C265* probably null Het
F12 T C 13: 55,569,658 (GRCm39) E146G probably damaging Het
Fdps C A 3: 89,001,783 (GRCm39) E301D possibly damaging Het
Fsd2 G T 7: 81,184,837 (GRCm39) H686Q probably benign Het
Gk5 T C 9: 96,032,802 (GRCm39) S262P probably damaging Het
Gm20730 A G 6: 43,058,722 (GRCm39) V30A probably benign Het
Gpr68 C A 12: 100,844,670 (GRCm39) E291D probably damaging Het
Gucy2c A G 6: 136,674,993 (GRCm39) V1006A probably benign Het
Itgb1 T A 8: 129,431,891 (GRCm39) probably null Het
Kif2a A T 13: 107,106,259 (GRCm39) D570E probably benign Het
Krt8 G T 15: 101,906,414 (GRCm39) A365D probably damaging Het
Lias T A 5: 65,566,132 (GRCm39) V373E possibly damaging Het
Mpl A G 4: 118,312,461 (GRCm39) V169A probably benign Het
Myh3 T A 11: 66,977,228 (GRCm39) I319N probably damaging Het
Myrfl T A 10: 116,668,818 (GRCm39) K315I probably damaging Het
Nrap T C 19: 56,340,108 (GRCm39) D803G probably damaging Het
Obi1 A G 14: 104,747,868 (GRCm39) V40A unknown Het
Or5b119 T C 19: 13,456,975 (GRCm39) T196A probably benign Het
Pald1 A G 10: 61,178,701 (GRCm39) S536P possibly damaging Het
Phka2 G A X: 159,316,044 (GRCm39) V230I probably damaging Het
Prkaa2 T A 4: 104,904,349 (GRCm39) T243S probably benign Het
Prrc2b T A 2: 32,103,153 (GRCm39) V877D probably benign Het
Rbm27 T A 18: 42,466,468 (GRCm39) probably null Het
Rev3l G T 10: 39,699,544 (GRCm39) R1347L probably benign Het
Rtp3 A G 9: 110,816,180 (GRCm39) F124L probably benign Het
Ryr3 C T 2: 112,777,251 (GRCm39) G302D probably damaging Het
Scnn1a A G 6: 125,314,819 (GRCm39) N314S probably benign Het
Sik3 C T 9: 46,122,067 (GRCm39) R907W probably damaging Het
Sox5 C T 6: 144,062,169 (GRCm39) probably null Het
Tmc1 A C 19: 20,878,225 (GRCm39) L90R probably damaging Het
Tmtc2 A G 10: 105,249,130 (GRCm39) V201A probably benign Het
Uvrag T A 7: 98,537,689 (GRCm39) H502L probably benign Het
Vwa8 T A 14: 79,434,859 (GRCm39) I1760N probably damaging Het
Zfp318 G GAAGAAT 17: 46,723,468 (GRCm39) probably benign Het
Zfp772 T C 7: 7,209,307 (GRCm39) D61G possibly damaging 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
R4878:Rbm48 UTSW 5 3,641,853 (GRCm39) unclassified probably benign
R5176:Rbm48 UTSW 5 3,645,444 (GRCm39) missense probably damaging 1.00
R5276:Rbm48 UTSW 5 3,634,759 (GRCm39) missense probably benign
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'- AATTTAGTGTCCCTGCCGAG -3'
(R):5'- AAGGTTCAACTCTCACCGGAG -3'

Sequencing Primer
(F):5'- CTGCCGAGGGGAGAGAAGAATC -3'
(R):5'- CTTCTCGTCAGGTGAGAGC -3'
Posted On 2018-09-12