Incidental Mutation 'R6091:Rbm47'
ID 485915
Institutional Source Beutler Lab
Gene Symbol Rbm47
Ensembl Gene ENSMUSG00000070780
Gene Name RNA binding motif protein 47
Synonyms 9530077J19Rik
MMRRC Submission 044248-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # R6091 (G1)
Quality Score 174.009
Status Validated
Chromosome 5
Chromosomal Location 66173892-66309297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to C at 66183626 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 326 (R326G)
Ref Sequence ENSEMBL: ENSMUSP00000144122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094756] [ENSMUST00000094757] [ENSMUST00000113724] [ENSMUST00000113726] [ENSMUST00000167950] [ENSMUST00000200775] [ENSMUST00000201544] [ENSMUST00000200852] [ENSMUST00000202700] [ENSMUST00000201561]
AlphaFold Q91WT8
Predicted Effect probably damaging
Transcript: ENSMUST00000094756
AA Change: R326G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000094757
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113724
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000113726
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000167950
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000200775
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000201544
AA Change: R326G

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: R326G

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
RRM 152 229 3.74e-5 SMART
RRM 247 314 1.21e-13 SMART
low complexity region 330 342 N/A INTRINSIC
low complexity region 381 397 N/A INTRINSIC
low complexity region 489 502 N/A INTRINSIC
low complexity region 545 554 N/A INTRINSIC
low complexity region 559 570 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202794
Predicted Effect probably benign
Transcript: ENSMUST00000200852
SMART Domains Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202700
Predicted Effect probably benign
Transcript: ENSMUST00000201561
Meta Mutation Damage Score 0.4376 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.4%
  • 20x: 91.8%
Validation Efficiency 96% (54/56)
MGI Phenotype PHENOTYPE: Mice homozygous for a gene-trapped allele exhibit partial prenatal lethality. Surviving adults are small and display impaired cytidine to uridine RNA editing. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930568D16Rik T G 2: 35,252,348 (GRCm39) T50P possibly damaging Het
Adad1 A G 3: 37,139,118 (GRCm39) E396G possibly damaging Het
Adamtsl3 T A 7: 82,114,829 (GRCm39) C232S probably damaging Het
AI606181 T C 19: 41,582,063 (GRCm39) S78P unknown Het
Amph T A 13: 19,309,293 (GRCm39) M457K probably benign Het
Ano1 A T 7: 144,223,171 (GRCm39) M174K probably benign Het
C3 T A 17: 57,528,967 (GRCm39) K632* probably null Het
Cep170 C T 1: 176,583,397 (GRCm39) G994D probably damaging Het
Chd7 T C 4: 8,751,875 (GRCm39) V124A probably damaging Het
Chd9 A G 8: 91,761,691 (GRCm39) K2259E probably damaging Het
Col7a1 A G 9: 108,784,402 (GRCm39) T137A unknown Het
Dcc C T 18: 71,942,185 (GRCm39) V311I probably benign Het
Ddx42 A T 11: 106,125,796 (GRCm39) Q282L probably damaging Het
Fcgbp A G 7: 27,804,390 (GRCm39) T1833A possibly damaging Het
Fpr-rs3 A G 17: 20,844,532 (GRCm39) I203T probably benign Het
Frem1 A G 4: 82,818,796 (GRCm39) I2139T probably benign Het
Frmpd2 T C 14: 33,244,820 (GRCm39) V546A probably damaging Het
Gbp11 G T 5: 105,479,254 (GRCm39) T123N possibly damaging Het
Hs3st1 G A 5: 39,772,007 (GRCm39) P212L probably damaging Het
Ifnb1 T A 4: 88,440,813 (GRCm39) M67L probably benign Het
Ighv1-54 T C 12: 115,157,497 (GRCm39) N50S probably benign Het
Ikzf4 G A 10: 128,470,542 (GRCm39) T326I probably benign Het
Ints2 A T 11: 86,127,429 (GRCm39) V501E probably damaging Het
Mfsd1 C A 3: 67,507,270 (GRCm39) probably null Het
Mroh2a GCCC GC 1: 88,159,979 (GRCm39) probably null Het
Mrps11 G A 7: 78,438,466 (GRCm39) A73T possibly damaging Het
Mterf4 T C 1: 93,229,291 (GRCm39) E311G probably damaging Het
Mx2 A G 16: 97,347,635 (GRCm39) T176A probably damaging Het
Mycbp2 A C 14: 103,460,482 (GRCm39) L1495R probably damaging Het
Myo3b A G 2: 70,069,113 (GRCm39) T451A probably benign Het
Myrfl T C 10: 116,685,111 (GRCm39) T90A probably benign Het
Nbeal1 A G 1: 60,220,715 (GRCm39) probably benign Het
Ncor1 A G 11: 62,310,443 (GRCm39) L201P probably damaging Het
Nfxl1 G T 5: 72,671,533 (GRCm39) L909I probably benign Het
Nr3c1 GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC GGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGC 18: 39,620,011 (GRCm39) probably benign Het
Or5aq1b T A 2: 86,901,705 (GRCm39) S258C probably benign Het
Plscr5 A G 9: 92,086,437 (GRCm39) T136A probably benign Het
Ppp1r3a G A 6: 14,719,339 (GRCm39) T525I probably benign Het
Ptprg G A 14: 12,215,979 (GRCm38) G1143R probably damaging Het
Ryr1 T C 7: 28,771,398 (GRCm39) T2541A probably benign Het
Sall1 A G 8: 89,755,247 (GRCm39) L1244P probably damaging Het
Sec16a G A 2: 26,316,482 (GRCm39) H1673Y probably damaging Het
Slc22a19 A G 19: 7,688,428 (GRCm39) I44T probably benign Het
Snap91 T A 9: 86,721,681 (GRCm39) N53Y probably damaging Het
Sorcs1 T C 19: 50,276,539 (GRCm39) T338A possibly damaging Het
Taf6l T C 19: 8,755,920 (GRCm39) T243A probably benign Het
Tex10 T C 4: 48,459,891 (GRCm39) R487G probably damaging Het
Tfcp2 G T 15: 100,410,194 (GRCm39) T391N probably damaging Het
Tnxb G A 17: 34,929,338 (GRCm39) V2794M probably damaging Het
Ush2a T G 1: 188,132,000 (GRCm39) C741G probably damaging Het
Vmn1r3 T A 4: 3,184,684 (GRCm39) I208F probably damaging Het
Vmn2r28 T A 7: 5,496,790 (GRCm39) I21F possibly damaging Het
Vmn2r93 A G 17: 18,545,958 (GRCm39) D610G probably benign Het
Wbp1 T C 6: 83,096,468 (GRCm39) S229G probably benign Het
Xirp1 A G 9: 119,847,029 (GRCm39) V618A probably benign Het
Zbtb32 A G 7: 30,291,254 (GRCm39) S14P possibly damaging Het
Zfp24 A G 18: 24,147,269 (GRCm39) S348P probably damaging Het
Other mutations in Rbm47
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00976:Rbm47 APN 5 66,184,081 (GRCm39) missense possibly damaging 0.75
IGL01648:Rbm47 APN 5 66,182,321 (GRCm39) missense possibly damaging 0.59
IGL02323:Rbm47 APN 5 66,183,772 (GRCm39) missense probably damaging 1.00
IGL02456:Rbm47 APN 5 66,184,364 (GRCm39) missense probably damaging 1.00
IGL03329:Rbm47 APN 5 66,184,036 (GRCm39) missense probably damaging 0.98
PIT4402001:Rbm47 UTSW 5 66,184,354 (GRCm39) missense probably damaging 1.00
R0131:Rbm47 UTSW 5 66,183,872 (GRCm39) missense possibly damaging 0.86
R1575:Rbm47 UTSW 5 66,182,358 (GRCm39) missense probably benign 0.00
R1587:Rbm47 UTSW 5 66,182,334 (GRCm39) missense probably benign 0.23
R1645:Rbm47 UTSW 5 66,184,481 (GRCm39) missense probably benign 0.44
R1750:Rbm47 UTSW 5 66,176,653 (GRCm39) missense possibly damaging 0.78
R4085:Rbm47 UTSW 5 66,180,080 (GRCm39) missense probably benign 0.05
R4087:Rbm47 UTSW 5 66,180,080 (GRCm39) missense probably benign 0.05
R4090:Rbm47 UTSW 5 66,180,080 (GRCm39) missense probably benign 0.05
R4280:Rbm47 UTSW 5 66,183,520 (GRCm39) missense probably damaging 1.00
R4714:Rbm47 UTSW 5 66,182,395 (GRCm39) missense probably damaging 1.00
R4744:Rbm47 UTSW 5 66,184,036 (GRCm39) missense probably damaging 0.98
R4807:Rbm47 UTSW 5 66,176,647 (GRCm39) missense possibly damaging 0.71
R5453:Rbm47 UTSW 5 66,184,525 (GRCm39) missense probably benign 0.07
R6090:Rbm47 UTSW 5 66,183,626 (GRCm39) missense probably damaging 1.00
R6136:Rbm47 UTSW 5 66,183,626 (GRCm39) missense probably damaging 1.00
R6137:Rbm47 UTSW 5 66,183,626 (GRCm39) missense probably damaging 1.00
R6159:Rbm47 UTSW 5 66,184,159 (GRCm39) missense probably damaging 0.99
R6181:Rbm47 UTSW 5 66,183,833 (GRCm39) missense possibly damaging 0.92
R6425:Rbm47 UTSW 5 66,180,159 (GRCm39) missense probably damaging 1.00
R7292:Rbm47 UTSW 5 66,184,093 (GRCm39) missense possibly damaging 0.86
R7332:Rbm47 UTSW 5 66,183,557 (GRCm39) missense probably damaging 1.00
R7405:Rbm47 UTSW 5 66,183,838 (GRCm39) missense probably damaging 0.98
R8114:Rbm47 UTSW 5 66,184,196 (GRCm39) missense probably benign 0.00
R8348:Rbm47 UTSW 5 66,184,573 (GRCm39) missense possibly damaging 0.60
R8448:Rbm47 UTSW 5 66,184,573 (GRCm39) missense possibly damaging 0.60
R8674:Rbm47 UTSW 5 66,176,742 (GRCm39) missense possibly damaging 0.63
R9339:Rbm47 UTSW 5 66,183,826 (GRCm39) missense possibly damaging 0.93
R9580:Rbm47 UTSW 5 66,183,877 (GRCm39) missense possibly damaging 0.94
R9686:Rbm47 UTSW 5 66,179,969 (GRCm39) critical splice donor site probably null
Z1176:Rbm47 UTSW 5 66,184,322 (GRCm39) missense probably benign 0.30
Z1176:Rbm47 UTSW 5 66,180,015 (GRCm39) missense probably benign 0.04
Predicted Primers PCR Primer
(F):5'- GCTCAATCTAACACCCTTGTCTAG -3'
(R):5'- GAGCTTTGGCCAGTTCAACC -3'

Sequencing Primer
(F):5'- CTTGTCTAGGGGGCTGGACAC -3'
(R):5'- AGTTCAACCCAGGCTGCG -3'
Posted On 2017-08-16