Incidental Mutation 'R0015:Rbm43'
ID 8330
Institutional Source Beutler Lab
Gene Symbol Rbm43
Ensembl Gene ENSMUSG00000036249
Gene Name RNA binding motif protein 43
Synonyms 0610033I05Rik
MMRRC Submission 038310-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.069) question?
Stock # R0015 (G1)
Quality Score
Status Validated
Chromosome 2
Chromosomal Location 51814460-51825175 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 51815679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 181 (I181F)
Ref Sequence ENSEMBL: ENSMUSP00000126129 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000102767] [ENSMUST00000102768] [ENSMUST00000165313]
AlphaFold Q99J64
Predicted Effect probably benign
Transcript: ENSMUST00000102767
AA Change: I181F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099828
Gene: ENSMUSG00000036249
AA Change: I181F

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102768
AA Change: I181F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000099829
Gene: ENSMUSG00000036249
AA Change: I181F

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: I181F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000126129
Gene: ENSMUSG00000036249
AA Change: I181F

DomainStartEndE-ValueType
RRM 16 86 4.71e-2 SMART
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 80.5%
  • 3x: 72.2%
  • 10x: 49.0%
  • 20x: 28.4%
Validation Efficiency 90% (88/98)
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A130050O07Rik A G 1: 137,856,394 (GRCm39) Y23C unknown Het
Aadat C T 8: 60,987,605 (GRCm39) probably benign Het
Adcy3 G A 12: 4,245,260 (GRCm39) probably null Het
Armc3 A G 2: 19,301,132 (GRCm39) probably null Het
Astn2 T G 4: 66,184,619 (GRCm39) probably null Het
Borcs8 T C 8: 70,593,017 (GRCm39) probably benign Het
Cacna1d G A 14: 29,836,928 (GRCm39) T804I probably benign Het
Card19 A G 13: 49,361,532 (GRCm39) L33P probably benign Het
Ccny A C 18: 9,316,682 (GRCm39) probably benign Het
Cdh5 C T 8: 104,867,559 (GRCm39) T612I probably benign Het
Cfap58 A G 19: 48,017,539 (GRCm39) M800V probably benign Het
Clrn1 A T 3: 58,753,848 (GRCm39) I171K probably damaging Het
Cnp T A 11: 100,469,734 (GRCm39) probably null Het
Col12a1 T C 9: 79,558,667 (GRCm39) T1933A probably damaging Het
Cplane1 G A 15: 8,215,668 (GRCm39) R408H probably damaging Het
Cwf19l2 A G 9: 3,454,666 (GRCm39) S660G probably benign Het
Dync1i2 C A 2: 71,044,828 (GRCm39) R13S probably damaging Het
Fat4 T A 3: 39,036,652 (GRCm39) S3435T probably damaging Het
Fchsd1 A G 18: 38,096,012 (GRCm39) C533R probably benign Het
Fstl5 G A 3: 76,229,498 (GRCm39) V100M probably damaging Het
Gria2 C T 3: 80,615,074 (GRCm39) G469S probably damaging Het
Hsf5 C A 11: 87,548,161 (GRCm39) H615N probably benign Het
Ints2 T C 11: 86,140,113 (GRCm39) T240A probably damaging Het
Kcnn3 A C 3: 89,570,080 (GRCm39) D631A probably damaging Het
Lama4 C T 10: 38,951,432 (GRCm39) T1059M possibly damaging Het
Lgals8 A G 13: 12,462,179 (GRCm39) L226P probably damaging Het
Lonp1 T A 17: 56,925,406 (GRCm39) Q462L probably benign Het
Mark2 A T 19: 7,263,142 (GRCm39) Y231* probably null Het
Mdh1b T C 1: 63,760,959 (GRCm39) probably benign Het
Myh7b C T 2: 155,464,206 (GRCm39) P569L probably damaging Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Ncapd3 C A 9: 26,963,105 (GRCm39) A470E probably damaging Het
Ndrg2 A G 14: 52,147,902 (GRCm39) probably benign Het
Nprl2 A T 9: 107,421,618 (GRCm39) I209F probably damaging Het
Pcf11 T A 7: 92,307,525 (GRCm39) H881L probably benign Het
Pde10a A G 17: 9,196,029 (GRCm39) D640G probably damaging Het
Pdxdc1 A T 16: 13,705,547 (GRCm39) probably benign Het
Polr2g A G 19: 8,771,016 (GRCm39) I160T probably damaging Het
Pter G A 2: 13,005,811 (GRCm39) G328D probably damaging Het
Rad51 T A 2: 118,946,808 (GRCm39) M5K probably benign Het
Rgs12 T C 5: 35,180,120 (GRCm39) probably benign Het
Slc20a2 C A 8: 23,025,361 (GRCm39) A21E probably damaging Het
Sybu T C 15: 44,536,896 (GRCm39) R349G probably damaging Het
Tmem161b C A 13: 84,370,533 (GRCm39) probably null Het
Xirp2 C A 2: 67,341,243 (GRCm39) Y1161* probably null Het
Zfand4 C A 6: 116,305,258 (GRCm39) T705K probably damaging Het
Other mutations in Rbm43
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01775:Rbm43 APN 2 51,815,460 (GRCm39) missense probably damaging 0.99
IGL03101:Rbm43 APN 2 51,816,757 (GRCm39) missense probably benign 0.07
R0015:Rbm43 UTSW 2 51,815,679 (GRCm39) missense probably benign 0.01
R0034:Rbm43 UTSW 2 51,815,722 (GRCm39) missense probably benign 0.00
R0034:Rbm43 UTSW 2 51,815,722 (GRCm39) missense probably benign 0.00
R1909:Rbm43 UTSW 2 51,815,446 (GRCm39) missense possibly damaging 0.92
R1972:Rbm43 UTSW 2 51,815,548 (GRCm39) missense probably benign 0.00
R4709:Rbm43 UTSW 2 51,819,728 (GRCm39) missense probably damaging 1.00
R5120:Rbm43 UTSW 2 51,822,435 (GRCm39) start gained probably benign
R5378:Rbm43 UTSW 2 51,815,633 (GRCm39) missense probably damaging 1.00
R5490:Rbm43 UTSW 2 51,815,607 (GRCm39) missense probably benign 0.32
R6502:Rbm43 UTSW 2 51,815,588 (GRCm39) missense probably damaging 1.00
R7585:Rbm43 UTSW 2 51,816,763 (GRCm39) missense probably benign 0.05
R7894:Rbm43 UTSW 2 51,815,909 (GRCm39) missense probably damaging 0.99
R8305:Rbm43 UTSW 2 51,816,712 (GRCm39) missense probably damaging 1.00
R9085:Rbm43 UTSW 2 51,824,930 (GRCm39) unclassified probably benign
Posted On 2012-11-21