Incidental Mutation 'IGL02456:Rbm47'
ID 294185
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm47
Ensembl Gene ENSMUSG00000070780
Gene Name RNA binding motif protein 47
Synonyms 9530077J19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.206) question?
Stock # IGL02456
Quality Score
Status
Chromosome 5
Chromosomal Location 66173892-66309297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 66184364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Cysteine at position 80 (R80C)
Ref Sequence ENSEMBL: ENSMUSP00000144122 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094756] [ENSMUST00000094757] [ENSMUST00000113724] [ENSMUST00000113726] [ENSMUST00000167950] [ENSMUST00000200775] [ENSMUST00000200852] [ENSMUST00000201544] [ENSMUST00000202700] [ENSMUST00000201561]
AlphaFold Q91WT8
Predicted Effect probably damaging
Transcript: ENSMUST00000094756
AA Change: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: R80C

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: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: R80C

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: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: R80C

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: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: R80C

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: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: R80C

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: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: R80C

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: ENSMUST00000200852
AA Change: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144505
Gene: ENSMUSG00000070780
AA Change: R80C

DomainStartEndE-ValueType
low complexity region 56 67 N/A INTRINSIC
RRM 72 145 7.19e-16 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201544
AA Change: R80C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: R80C

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: ENSMUST00000202794
Predicted Effect noncoding transcript
Transcript: ENSMUST00000201311
Predicted Effect probably benign
Transcript: ENSMUST00000202700
Predicted Effect probably benign
Transcript: ENSMUST00000201561
Coding Region Coverage
Validation Efficiency
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik T A X: 126,302,584 (GRCm39) Y174* probably null Het
Apc C A 18: 34,446,935 (GRCm39) S1243* probably null Het
Atp8b5 A G 4: 43,365,578 (GRCm39) T731A probably benign Het
Bcl2a1c T A 9: 114,159,458 (GRCm39) F79I probably damaging Het
Brip1 G T 11: 85,955,925 (GRCm39) L863I possibly damaging Het
Cbx4 T A 11: 118,972,938 (GRCm39) K146* probably null Het
Ces1a C T 8: 93,766,126 (GRCm39) V163I possibly damaging Het
Ces5a C T 8: 94,255,272 (GRCm39) probably benign Het
Cfhr1 A C 1: 139,484,131 (GRCm39) N128K possibly damaging Het
Clcn3 T C 8: 61,394,391 (GRCm39) D46G probably damaging Het
Cntnap1 T G 11: 101,068,955 (GRCm39) I166S probably benign Het
Cntnap3 A T 13: 64,946,872 (GRCm39) probably benign Het
Cntnap5c T A 17: 58,714,739 (GRCm39) probably benign Het
Ddx23 A T 15: 98,545,430 (GRCm39) V626E probably damaging Het
Dele1 T A 18: 38,394,177 (GRCm39) L458Q probably damaging Het
Gcm2 T C 13: 41,256,477 (GRCm39) Y424C probably benign Het
Gm9964 A G 11: 79,187,196 (GRCm39) F84L probably damaging Het
Grn T A 11: 102,326,930 (GRCm39) D509E probably benign Het
Iho1 G T 9: 108,283,820 (GRCm39) T208K probably benign Het
Kdm5c G A X: 151,029,314 (GRCm39) D343N probably damaging Het
Ly75 C T 2: 60,124,125 (GRCm39) M1717I probably benign Het
Map1a C A 2: 121,129,134 (GRCm39) P133T probably damaging Het
Mpp2 C A 11: 101,950,199 (GRCm39) A552S possibly damaging Het
Mtr T C 13: 12,213,980 (GRCm39) I897M probably damaging Het
Npas3 A T 12: 54,095,550 (GRCm39) I337F probably damaging Het
Nup85 T C 11: 115,472,691 (GRCm39) probably benign Het
Or10a49 A G 7: 108,468,257 (GRCm39) Y35H probably benign Het
Or10al2 T A 17: 37,983,340 (GRCm39) M142K possibly damaging Het
Or2t46 T A 11: 58,472,024 (GRCm39) L118H possibly damaging Het
Or51l4 T A 7: 103,404,700 (GRCm39) I31F possibly damaging Het
Or56a5 T C 7: 104,792,966 (GRCm39) N178S probably damaging Het
Pdia4 A T 6: 47,780,429 (GRCm39) D301E probably benign Het
Phf2 C A 13: 48,982,322 (GRCm39) G134C unknown Het
Polr2h T A 16: 20,539,352 (GRCm39) L76H probably damaging Het
Sfmbt1 T C 14: 30,507,837 (GRCm39) S286P probably damaging Het
Slc5a12 T C 2: 110,447,179 (GRCm39) probably benign Het
Tacc2 T C 7: 130,227,991 (GRCm39) S1559P probably benign Het
Tbc1d16 T G 11: 119,101,372 (GRCm39) H46P probably damaging Het
Tbck A G 3: 132,440,475 (GRCm39) probably benign Het
Tmtc4 A T 14: 123,163,374 (GRCm39) probably null Het
Ttc13 T C 8: 125,417,100 (GRCm39) probably null Het
Ttc17 T C 2: 94,193,130 (GRCm39) probably benign Het
Vmn1r121 T A 7: 20,832,438 (GRCm39) M1L possibly damaging Het
Vps13c T C 9: 67,860,258 (GRCm39) S2825P probably damaging Het
Zan A C 5: 137,445,106 (GRCm39) S1718A unknown Het
Zfp39 G T 11: 58,793,626 (GRCm39) Y37* probably null Het
Zfp407 T C 18: 84,576,766 (GRCm39) N1449S probably damaging Het
Zhx2 C A 15: 57,687,035 (GRCm39) D801E possibly 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
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
R6091: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
Posted On 2015-04-16