Incidental Mutation 'IGL03101:Rbm43'
ID418735
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm43
Ensembl Gene ENSMUSG00000036249
Gene NameRNA binding motif protein 43
Synonyms0610033I05Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL03101
Quality Score
Status
Chromosome2
Chromosomal Location51924448-51935163 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51926745 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 70 (I70N)
Ref Sequence ENSEMBL: ENSMUSP00000126129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102767] [ENSMUST00000102768] [ENSMUST00000165313]
Predicted Effect probably benign
Transcript: ENSMUST00000102767
AA Change: I70N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099828
Gene: ENSMUSG00000036249
AA Change: I70N

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102768
AA Change: I70N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000099829
Gene: ENSMUSG00000036249
AA Change: I70N

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000126090
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132703
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152800
Predicted Effect probably benign
Transcript: ENSMUST00000165313
AA Change: I70N

PolyPhen 2 Score 0.068 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000126129
Gene: ENSMUSG00000036249
AA Change: I70N

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA474408 A T 7: 110,060,970 probably benign Het
Abcc1 T A 16: 14,389,868 V23D probably damaging Het
Adam8 G T 7: 139,988,543 N260K possibly damaging Het
Ap3b1 A T 13: 94,455,398 I457L probably benign Het
Apaf1 T C 10: 91,031,559 N808S possibly damaging Het
Arhgef26 A G 3: 62,419,661 T532A possibly damaging Het
Cfap65 G T 1: 74,928,433 T162N possibly damaging Het
Clec12b A G 6: 129,379,517 probably null Het
Creb3 T C 4: 43,563,081 V60A probably benign Het
Cyp11b1 A G 15: 74,835,854 F469L probably benign Het
Defb28 A T 2: 152,520,127 E69V possibly damaging Het
Etnppl T C 3: 130,622,318 L118S probably damaging Het
Fsip1 T C 2: 118,241,663 Y213C probably damaging Het
Glb1l2 A G 9: 26,765,125 W480R probably damaging Het
Gm12394 T C 4: 42,793,424 D236G possibly damaging Het
Herc1 A T 9: 66,487,997 M4205L probably benign Het
Kif5a A T 10: 127,235,609 probably benign Het
Lmbrd2 C T 15: 9,186,608 R557C probably damaging Het
Map4k3 A G 17: 80,655,855 probably null Het
Npc1 A G 18: 12,198,539 I858T probably benign Het
Olfr866 T C 9: 20,027,429 T170A probably benign Het
Pecam1 A G 11: 106,697,351 V92A probably damaging Het
Rps6kb1 T C 11: 86,502,882 Y474C probably benign Het
Slco2a1 G A 9: 103,077,006 G459R possibly damaging Het
Snca T A 6: 60,827,611 probably benign Het
Stap2 T A 17: 56,002,029 I113F probably damaging Het
Tas2r137 T C 6: 40,491,830 M198T probably benign Het
Trim9 T C 12: 70,346,654 E172G probably damaging Het
Ttll7 T C 3: 146,896,690 V81A possibly damaging Het
Vmn2r103 A G 17: 19,773,520 Y53C probably damaging Het
Vmn2r22 C A 6: 123,637,336 A432S probably benign Het
Zfp943 T C 17: 21,992,175 S81P probably damaging Het
Other mutations in Rbm43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Rbm43 APN 2 51925448 missense probably damaging 0.99
R0015:Rbm43 UTSW 2 51925667 missense probably benign 0.01
R0015:Rbm43 UTSW 2 51925667 missense probably benign 0.01
R0034:Rbm43 UTSW 2 51925710 missense probably benign 0.00
R0034:Rbm43 UTSW 2 51925710 missense probably benign 0.00
R1909:Rbm43 UTSW 2 51925434 missense possibly damaging 0.92
R1972:Rbm43 UTSW 2 51925536 missense probably benign 0.00
R4709:Rbm43 UTSW 2 51929716 missense probably damaging 1.00
R5120:Rbm43 UTSW 2 51932423 start gained probably benign
R5378:Rbm43 UTSW 2 51925621 missense probably damaging 1.00
R5490:Rbm43 UTSW 2 51925595 missense probably benign 0.32
R6502:Rbm43 UTSW 2 51925576 missense probably damaging 1.00
Posted On2016-08-02