Incidental Mutation 'R0034:Rbm43'
ID15398
Institutional Source Beutler Lab
Gene Symbol Rbm43
Ensembl Gene ENSMUSG00000036249
Gene NameRNA binding motif protein 43
Synonyms0610033I05Rik
MMRRC Submission 038328-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.120) question?
Stock #R0034 (G1)
Quality Score
Status Validated
Chromosome2
Chromosomal Location51924448-51935163 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 51925710 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 166 (D166E)
Ref Sequence ENSEMBL: ENSMUSP00000126129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102767] [ENSMUST00000102768] [ENSMUST00000165313]
Predicted Effect probably benign
Transcript: ENSMUST00000102767
AA Change: D166E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099828
Gene: ENSMUSG00000036249
AA Change: D166E

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102768
AA Change: D166E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000099829
Gene: ENSMUSG00000036249
AA Change: D166E

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: D166E

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000126129
Gene: ENSMUSG00000036249
AA Change: D166E

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 76.6%
  • 3x: 64.3%
  • 10x: 35.1%
  • 20x: 16.8%
Validation Efficiency 87% (59/68)
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930402H24Rik T C 2: 130,736,572 H664R probably damaging Het
Asns G A 6: 7,676,299 P419L probably damaging Het
Cep152 C T 2: 125,583,893 A851T probably benign Het
Chrna7 T G 7: 63,148,606 K109N possibly damaging Het
Farp1 A G 14: 121,255,429 H481R probably benign Het
Kif9 G A 9: 110,519,611 C738Y probably benign Het
Klf12 A G 14: 99,987,429 probably null Het
Ltbp1 T A 17: 75,047,568 probably benign Het
Map2k4 A G 11: 65,719,611 probably benign Het
Nat8f5 C A 6: 85,817,886 A31S probably benign Het
Plb1 G T 5: 32,273,113 G138V probably benign Het
Plcz1 A T 6: 140,020,448 probably benign Het
Poln A C 5: 34,115,418 V398G possibly damaging Het
Ppp2r2c A G 5: 36,927,539 I115V probably benign Het
Rapgef1 C A 2: 29,724,768 probably benign Het
Sgk3 T C 1: 9,885,677 V301A probably damaging Het
Trap1 A T 16: 4,069,030 probably benign Het
Trim14 A G 4: 46,523,627 L137P probably damaging Het
Tsku T C 7: 98,352,663 T154A possibly damaging Het
Usp50 T C 2: 126,777,975 E139G possibly damaging Het
Zfp949 A T 9: 88,567,640 probably benign Het
Zscan20 T C 4: 128,585,662 N1012S probably damaging Het
Other mutations in Rbm43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Rbm43 APN 2 51925448 missense probably damaging 0.99
IGL03101:Rbm43 APN 2 51926745 missense probably benign 0.07
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
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
R7585:Rbm43 UTSW 2 51926751 missense probably benign 0.05
R7894:Rbm43 UTSW 2 51925897 missense probably damaging 0.99
R8305:Rbm43 UTSW 2 51926700 missense probably damaging 1.00
Posted On2012-12-17