Incidental Mutation 'IGL03329:Rbm47'
ID 416812
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 # IGL03329
Quality Score
Status
Chromosome 5
Chromosomal Location 66173892-66309297 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 66184036 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 189 (D189G)
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 possibly damaging
Transcript: ENSMUST00000094756
AA Change: D189G

PolyPhen 2 Score 0.639 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000092348
Gene: ENSMUSG00000070780
AA Change: D189G

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: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000092349
Gene: ENSMUSG00000070780
AA Change: D189G

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: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109353
Gene: ENSMUSG00000070780
AA Change: D189G

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: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000109355
Gene: ENSMUSG00000070780
AA Change: D189G

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: ENSMUST00000132606
AA Change: T416A
Predicted Effect probably damaging
Transcript: ENSMUST00000167950
AA Change: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000128016
Gene: ENSMUSG00000070780
AA Change: D189G

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 probably damaging
Transcript: ENSMUST00000200775
AA Change: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144325
Gene: ENSMUSG00000070780
AA Change: D189G

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: D189G

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000144122
Gene: ENSMUSG00000070780
AA Change: D189G

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 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 0.9040 question?
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,248,047 (GRCm39) D2598G probably benign Het
Abcf2 T G 5: 24,776,246 (GRCm39) probably null Het
Acsl1 T A 8: 46,946,031 (GRCm39) C55S possibly damaging Het
Adam22 T A 5: 8,199,210 (GRCm39) M249L possibly damaging Het
Alk A G 17: 72,206,159 (GRCm39) probably benign Het
Ambn T G 5: 88,609,527 (GRCm39) S78R probably benign Het
Apbb1ip T A 2: 22,757,729 (GRCm39) V449D possibly damaging Het
Atp13a5 A T 16: 29,152,883 (GRCm39) Y194* probably null Het
Cacul1 A T 19: 60,531,489 (GRCm39) F260Y probably damaging Het
Cfap46 A G 7: 139,181,081 (GRCm39) I2640T probably damaging Het
Chd7 T C 4: 8,841,108 (GRCm39) S1446P probably damaging Het
Cimap2 G T 4: 106,464,601 (GRCm39) R353S possibly damaging Het
Clcn2 G A 16: 20,530,902 (GRCm39) T276I probably damaging Het
Dcbld1 T G 10: 52,195,721 (GRCm39) Y310D probably damaging Het
Dennd4c G A 4: 86,696,113 (GRCm39) V157I probably damaging Het
Dennd5b G T 6: 148,899,758 (GRCm39) T1213K possibly damaging Het
Dusp8 A T 7: 141,638,097 (GRCm39) L177* probably null Het
Erbb4 T C 1: 68,367,281 (GRCm39) S479G probably benign Het
Gpbp1 T A 13: 111,589,787 (GRCm39) probably benign Het
Hmcn1 T A 1: 150,608,661 (GRCm39) Q1507L probably damaging Het
Inppl1 G T 7: 101,473,587 (GRCm39) T1021K possibly damaging Het
Klk1b9 A G 7: 43,628,838 (GRCm39) E114G probably benign Het
Klre1 T C 6: 129,562,660 (GRCm39) probably benign Het
Lancl1 T C 1: 67,060,209 (GRCm39) Y72C probably damaging Het
Lilra6 A G 7: 3,917,647 (GRCm39) probably benign Het
Magi2 T C 5: 20,671,126 (GRCm39) V490A possibly damaging Het
Myo3b T A 2: 70,084,803 (GRCm39) N720K probably damaging Het
Or2ah1 A C 2: 85,653,729 (GRCm39) D138A probably benign Het
Or7e166 T C 9: 19,624,597 (GRCm39) V158A probably benign Het
Ppp2r3d T A 9: 101,003,630 (GRCm39) probably benign Het
Scn2a G A 2: 65,594,973 (GRCm39) D1941N probably benign Het
Sgpp2 T C 1: 78,367,200 (GRCm39) I111T probably benign Het
Sh3bp2 T C 5: 34,716,546 (GRCm39) V319A probably benign Het
Slc12a3 A C 8: 95,092,519 (GRCm39) Q980P possibly damaging Het
Slc39a8 G T 3: 135,590,474 (GRCm39) G389V probably damaging Het
Slc5a3 T C 16: 91,874,348 (GRCm39) I135T probably damaging Het
Smu1 A G 4: 40,739,568 (GRCm39) V414A possibly damaging Het
Tlr12 A G 4: 128,510,645 (GRCm39) F535S possibly damaging Het
Trim47 A G 11: 115,997,254 (GRCm39) V501A probably damaging Het
Vmn1r16 A T 6: 57,300,603 (GRCm39) N6K probably damaging Het
Vwce G A 19: 10,637,360 (GRCm39) C711Y possibly damaging Het
Wdr25 C T 12: 108,864,262 (GRCm39) L136F probably benign Het
Xpo1 A G 11: 23,234,306 (GRCm39) Q437R probably benign Het
Zfp169 C A 13: 48,644,270 (GRCm39) probably benign Het
Zfp607b A T 7: 27,403,295 (GRCm39) I584F probably damaging Het
Zzef1 T A 11: 72,808,099 (GRCm39) probably benign 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
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 2016-08-02