Incidental Mutation 'R4308:Rbm20'
ID 324121
Institutional Source Beutler Lab
Gene Symbol Rbm20
Ensembl Gene ENSMUSG00000043639
Gene Name RNA binding motif protein 20
Synonyms 2010003H22Rik, 1110018J23Rik
MMRRC Submission 041659-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R4308 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 53665737-53855511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53831691 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Glycine at position 642 (S642G)
Ref Sequence ENSEMBL: ENSMUSP00000093665 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095969] [ENSMUST00000164202]
AlphaFold Q3UQS8
Predicted Effect probably damaging
Transcript: ENSMUST00000095969
AA Change: S642G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: S642G

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_C2H2 413 437 4.69e0 SMART
RRM 521 591 4.01e-5 SMART
low complexity region 634 657 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000161856
AA Change: S17G
SMART Domains Protein: ENSMUSP00000124363
Gene: ENSMUSG00000043639
AA Change: S17G

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 probably damaging
Transcript: ENSMUST00000164202
AA Change: S642G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: S642G

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
Meta Mutation Damage Score 0.1072 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.4%
Validation Efficiency 98% (47/48)
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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrv1 G A 13: 81,588,311 (GRCm39) T4425M probably damaging Het
Arhgef5 C T 6: 43,256,432 (GRCm39) A1180V probably damaging Het
Asap2 T C 12: 21,279,482 (GRCm39) I426T probably damaging Het
Ascc1 T G 10: 59,849,434 (GRCm39) H108Q probably benign Het
Bod1l A T 5: 41,949,156 (GRCm39) S2989T possibly damaging Het
Cfap157 G A 2: 32,669,054 (GRCm39) R350W probably damaging Het
Cyp39a1 T A 17: 44,041,855 (GRCm39) probably null Het
Dars2 A G 1: 160,869,291 (GRCm39) S653P probably damaging Het
Fancm A T 12: 65,173,305 (GRCm39) K1872N probably benign Het
Fktn C T 4: 53,724,617 (GRCm39) probably benign Het
Gpr33 A T 12: 52,070,423 (GRCm39) C205* probably null Het
Gsdmc2 A G 15: 63,720,554 (GRCm39) probably benign Het
Il31 A G 5: 123,618,769 (GRCm39) S6P probably damaging Het
Iqca1 T C 1: 90,072,619 (GRCm39) K87R probably damaging Het
Kif15 T G 9: 122,843,047 (GRCm39) H47Q probably benign Het
L3mbtl3 C T 10: 26,158,690 (GRCm39) A653T unknown Het
Lamb1 T C 12: 31,379,254 (GRCm39) L1737P probably damaging Het
Map2k5 C G 9: 63,142,586 (GRCm39) R353S probably benign Het
Mical2 C A 7: 111,931,199 (GRCm39) L721I probably benign Het
Myo1b T C 1: 51,922,268 (GRCm39) K37E probably benign Het
Myo5b A G 18: 74,864,811 (GRCm39) D1369G possibly damaging Het
Npc1 C T 18: 12,343,584 (GRCm39) A470T possibly damaging Het
Obi1 T A 14: 104,717,029 (GRCm39) N448I probably damaging Het
Or12e13 T C 2: 87,663,614 (GRCm39) I77T probably damaging Het
Or14j10 C T 17: 37,934,627 (GRCm39) V300I possibly damaging Het
Pcdhb1 A T 18: 37,399,714 (GRCm39) D555V probably benign Het
Prr27 A G 5: 87,990,766 (GRCm39) H126R probably benign Het
Rnf144b A G 13: 47,396,418 (GRCm39) N252D probably damaging Het
Rwdd2b A T 16: 87,233,615 (GRCm39) W162R probably damaging Het
Scaf11 A G 15: 96,344,396 (GRCm39) M19T probably benign Het
Sft2d2 A G 1: 165,015,833 (GRCm39) I45T probably benign Het
Skint5 A T 4: 113,341,164 (GRCm39) H1371Q unknown Het
Tas2r124 A G 6: 132,731,954 (GRCm39) I88V probably benign Het
Tasor2 A C 13: 3,619,498 (GRCm39) S2244R probably damaging Het
Ubr4 T C 4: 139,199,820 (GRCm39) V4568A possibly damaging Het
Vmn2r12 A G 5: 109,233,872 (GRCm39) L780P probably damaging Het
Vmn2r18 A T 5: 151,508,268 (GRCm39) Y285* probably null Het
Wnk2 C T 13: 49,244,313 (GRCm39) D508N probably damaging Het
Zfp983 A G 17: 21,881,124 (GRCm39) I351V probably benign 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
IGL01408:Rbm20 APN 19 53,840,044 (GRCm39) missense possibly damaging 0.95
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
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
Predicted Primers PCR Primer
(F):5'- GTTCCTGGACACTCTGCACTAC -3'
(R):5'- CCAACTCAGCTTTGTCCAGC -3'

Sequencing Primer
(F):5'- GACACTCTGCACTACTGGGTTG -3'
(R):5'- TGTCCAGCTGCCTAGGATAG -3'
Posted On 2015-06-24