Incidental Mutation 'IGL01408:Rbm20'
ID 79891
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Rbm20
Ensembl Gene ENSMUSG00000043639
Gene Name RNA binding motif protein 20
Synonyms 2010003H22Rik, 1110018J23Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # IGL01408
Quality Score
Status
Chromosome 19
Chromosomal Location 53665737-53855511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53840044 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 1011 (E1011G)
Ref Sequence ENSEMBL: ENSMUSP00000129447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164202]
AlphaFold Q3UQS8
Predicted Effect probably benign
Transcript: ENSMUST00000161856
AA Change: E386G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124363
Gene: ENSMUSG00000043639
AA Change: E386G

DomainStartEndE-ValueType
low complexity region 10 33 N/A INTRINSIC
low complexity region 180 191 N/A INTRINSIC
low complexity region 209 220 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000164202
AA Change: E1011G

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: E1011G

DomainStartEndE-ValueType
low complexity region 25 61 N/A INTRINSIC
low complexity region 106 117 N/A INTRINSIC
low complexity region 170 183 N/A INTRINSIC
low complexity region 251 260 N/A INTRINSIC
ZnF_U1 410 444 6.79e-1 SMART
ZnF_C2H2 413 437 4.69e0 SMART
RRM 521 591 4.01e-5 SMART
low complexity region 634 657 N/A INTRINSIC
low complexity region 804 815 N/A INTRINSIC
low complexity region 833 844 N/A INTRINSIC
ZnF_U1 1130 1165 7.26e-6 SMART
ZnF_C2H2 1133 1158 3.13e1 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds RNA and regulates splicing. Mutations in this gene have been associated with familial dilated cardiomyopathy. [provided by RefSeq, Apr 2014]
PHENOTYPE: Mice homozygous for an allele lacking the RNA recognition motif exhibit increased titin compliance, and attenuated Frank-Starling mechanism. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9530068E07Rik A G 11: 52,294,193 (GRCm39) R145G probably damaging Het
Akr1c21 T A 13: 4,627,431 (GRCm39) M175K probably benign Het
Apol7a C T 15: 77,273,530 (GRCm39) A311T probably damaging Het
Atxn10 G T 15: 85,260,896 (GRCm39) E214* probably null Het
Bmp2k C T 5: 97,234,823 (GRCm39) Q749* probably null Het
Ccdc141 G A 2: 76,876,023 (GRCm39) A669V probably benign Het
Cndp2 A C 18: 84,689,036 (GRCm39) C249G probably benign Het
Cnr1 A G 4: 33,944,802 (GRCm39) I397V possibly damaging Het
Col19a1 T C 1: 24,345,331 (GRCm39) probably benign Het
Dbn1 T C 13: 55,630,117 (GRCm39) probably benign Het
Dmgdh C T 13: 93,845,803 (GRCm39) P486S probably damaging Het
Dpys A G 15: 39,656,702 (GRCm39) V455A possibly damaging Het
Farp2 A G 1: 93,546,702 (GRCm39) N907S probably benign Het
Fndc3c1 C T X: 105,476,378 (GRCm39) E894K probably benign Het
Gm6685 A T 11: 28,289,473 (GRCm39) N114K probably damaging Het
Golga3 A T 5: 110,365,675 (GRCm39) probably null Het
Grin2c A G 11: 115,151,708 (GRCm39) L84P probably damaging Het
Gucy2c A G 6: 136,675,009 (GRCm39) F1001L probably benign Het
Hcn4 A G 9: 58,767,169 (GRCm39) H910R unknown Het
Kdm4b T C 17: 56,660,518 (GRCm39) probably benign Het
Lrrfip2 A G 9: 111,043,284 (GRCm39) T497A probably benign Het
Man2c1 A G 9: 57,048,884 (GRCm39) Y924C probably damaging Het
Nkain2 T A 10: 32,278,237 (GRCm39) T63S probably damaging Het
Nlrp1a T A 11: 71,013,742 (GRCm39) T503S probably benign Het
Or52n3 T C 7: 104,530,037 (GRCm39) V41A probably benign Het
Or52n4 T A 7: 104,294,136 (GRCm39) I146F possibly damaging Het
Pitrm1 T A 13: 6,623,078 (GRCm39) C780S probably damaging Het
Plekha5 C T 6: 140,516,042 (GRCm39) probably benign Het
Rapgef4 C T 2: 72,005,185 (GRCm39) R193* probably null Het
Rfx3 A T 19: 27,746,050 (GRCm39) D685E probably benign Het
Ror1 T C 4: 100,190,984 (GRCm39) S114P probably damaging Het
Slc17a6 A G 7: 51,318,863 (GRCm39) K502E probably benign Het
Spink2 A T 5: 77,359,174 (GRCm39) probably benign Het
Sptb A T 12: 76,659,921 (GRCm39) I993N possibly damaging Het
Stxbp4 A G 11: 90,512,475 (GRCm39) probably benign Het
Tes A T 6: 17,099,878 (GRCm39) Y291F probably damaging Het
Tmtc4 G T 14: 123,163,366 (GRCm39) probably benign Het
Trpa1 T C 1: 14,959,637 (GRCm39) E683G probably benign Het
Vmn2r73 T C 7: 85,521,455 (GRCm39) D171G probably benign Het
Wbp11 A G 6: 136,791,612 (GRCm39) probably benign Het
Wfdc12 A G 2: 164,031,581 (GRCm39) *86R probably null Het
Zfp281 T C 1: 136,553,853 (GRCm39) V277A probably damaging Het
Other mutations in Rbm20
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00419:Rbm20 APN 19 53,831,695 (GRCm39) missense probably damaging 1.00
IGL00815:Rbm20 APN 19 53,803,948 (GRCm39) missense probably damaging 1.00
IGL00845:Rbm20 APN 19 53,806,380 (GRCm39) missense probably damaging 1.00
IGL01663:Rbm20 APN 19 53,829,426 (GRCm39) missense probably damaging 1.00
IGL01902:Rbm20 APN 19 53,829,422 (GRCm39) missense probably damaging 0.99
IGL01942:Rbm20 APN 19 53,801,874 (GRCm39) missense probably damaging 1.00
IGL02964:Rbm20 APN 19 53,802,133 (GRCm39) missense probably benign 0.02
IGL03326:Rbm20 APN 19 53,802,431 (GRCm39) missense possibly damaging 0.85
BB001:Rbm20 UTSW 19 53,666,016 (GRCm39) missense possibly damaging 0.63
BB002:Rbm20 UTSW 19 53,801,753 (GRCm39) missense probably damaging 0.97
BB011:Rbm20 UTSW 19 53,666,016 (GRCm39) missense possibly damaging 0.63
BB012:Rbm20 UTSW 19 53,801,753 (GRCm39) missense probably damaging 0.97
R0326:Rbm20 UTSW 19 53,852,596 (GRCm39) missense probably damaging 1.00
R0487:Rbm20 UTSW 19 53,839,626 (GRCm39) missense probably damaging 1.00
R0965:Rbm20 UTSW 19 53,847,832 (GRCm39) missense probably damaging 1.00
R1435:Rbm20 UTSW 19 53,802,588 (GRCm39) missense probably benign 0.16
R1914:Rbm20 UTSW 19 53,852,518 (GRCm39) missense probably damaging 1.00
R1915:Rbm20 UTSW 19 53,852,518 (GRCm39) missense probably damaging 1.00
R2011:Rbm20 UTSW 19 53,847,859 (GRCm39) missense probably damaging 1.00
R2012:Rbm20 UTSW 19 53,847,859 (GRCm39) missense probably damaging 1.00
R2258:Rbm20 UTSW 19 53,840,172 (GRCm39) missense probably benign
R3947:Rbm20 UTSW 19 53,801,768 (GRCm39) missense probably benign 0.35
R4305:Rbm20 UTSW 19 53,831,691 (GRCm39) missense probably damaging 1.00
R4308:Rbm20 UTSW 19 53,831,691 (GRCm39) missense probably damaging 1.00
R4521:Rbm20 UTSW 19 53,805,633 (GRCm39) missense probably benign 0.14
R4970:Rbm20 UTSW 19 53,840,100 (GRCm39) missense probably damaging 0.99
R5266:Rbm20 UTSW 19 53,801,818 (GRCm39) missense probably damaging 1.00
R5475:Rbm20 UTSW 19 53,823,136 (GRCm39) nonsense probably null
R5503:Rbm20 UTSW 19 53,839,785 (GRCm39) missense possibly damaging 0.75
R5995:Rbm20 UTSW 19 53,839,698 (GRCm39) missense possibly damaging 0.95
R6836:Rbm20 UTSW 19 53,802,500 (GRCm39) missense probably damaging 0.98
R6947:Rbm20 UTSW 19 53,839,696 (GRCm39) missense probably damaging 1.00
R7030:Rbm20 UTSW 19 53,823,197 (GRCm39) missense probably damaging 1.00
R7117:Rbm20 UTSW 19 53,839,989 (GRCm39) missense possibly damaging 0.92
R7237:Rbm20 UTSW 19 53,839,930 (GRCm39) missense probably benign 0.04
R7638:Rbm20 UTSW 19 53,802,764 (GRCm39) missense possibly damaging 0.95
R7792:Rbm20 UTSW 19 53,838,567 (GRCm39) missense probably benign
R7823:Rbm20 UTSW 19 53,831,785 (GRCm39) missense probably benign 0.33
R7924:Rbm20 UTSW 19 53,666,016 (GRCm39) missense possibly damaging 0.63
R7925:Rbm20 UTSW 19 53,801,753 (GRCm39) missense probably damaging 0.97
R8044:Rbm20 UTSW 19 53,806,402 (GRCm39) missense probably benign 0.44
R8045:Rbm20 UTSW 19 53,806,402 (GRCm39) missense probably benign 0.44
R8046:Rbm20 UTSW 19 53,806,402 (GRCm39) missense probably benign 0.44
R8100:Rbm20 UTSW 19 53,839,744 (GRCm39) missense possibly damaging 0.85
R8292:Rbm20 UTSW 19 53,839,930 (GRCm39) missense possibly damaging 0.71
R8366:Rbm20 UTSW 19 53,838,612 (GRCm39) missense possibly damaging 0.95
R8518:Rbm20 UTSW 19 53,839,923 (GRCm39) missense probably benign 0.18
R8799:Rbm20 UTSW 19 53,821,120 (GRCm39) missense probably damaging 1.00
R8873:Rbm20 UTSW 19 53,665,911 (GRCm39) missense probably benign 0.00
R8886:Rbm20 UTSW 19 53,801,767 (GRCm39) missense probably benign 0.00
R9194:Rbm20 UTSW 19 53,823,131 (GRCm39) missense probably damaging 1.00
R9226:Rbm20 UTSW 19 53,839,645 (GRCm39) missense possibly damaging 0.92
R9765:Rbm20 UTSW 19 53,840,060 (GRCm39) missense probably benign
R9793:Rbm20 UTSW 19 53,852,551 (GRCm39) missense probably benign 0.03
R9795:Rbm20 UTSW 19 53,852,551 (GRCm39) missense probably benign 0.03
RF016:Rbm20 UTSW 19 53,802,163 (GRCm39) missense probably benign 0.00
Z1177:Rbm20 UTSW 19 53,840,116 (GRCm39) missense probably benign
Posted On 2013-11-05