Incidental Mutation 'R7117:Rbm20'
ID 551900
Institutional Source Beutler Lab
Gene Symbol Rbm20
Ensembl Gene ENSMUSG00000043639
Gene Name RNA binding motif protein 20
Synonyms 2010003H22Rik, 1110018J23Rik
MMRRC Submission 045208-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R7117 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 53665737-53855511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 53839989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Serine at position 993 (T993S)
Ref Sequence ENSEMBL: ENSMUSP00000129447 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000164202]
AlphaFold Q3UQS8
Predicted Effect
SMART Domains Protein: ENSMUSP00000124363
Gene: ENSMUSG00000043639
AA Change: T368S

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: T993S

PolyPhen 2 Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: T993S

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 97% (95/98)
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: 98 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,339,250 (GRCm39) Y254C probably benign Het
4930480E11Rik G T X: 77,414,311 (GRCm39) M345I probably benign Het
Adam12 T C 7: 133,518,191 (GRCm39) I650V probably benign Het
Adam39 G T 8: 41,279,279 (GRCm39) G557C probably damaging Het
Ak5 A G 3: 152,321,493 (GRCm39) probably null Het
Arhgef10l C T 4: 140,291,497 (GRCm39) probably null Het
Arhgef37 C T 18: 61,637,481 (GRCm39) E394K probably benign Het
Baz2b A G 2: 59,742,841 (GRCm39) V13A Het
Bnc1 G T 7: 81,623,109 (GRCm39) A706E possibly damaging Het
Bscl2 G A 19: 8,825,878 (GRCm39) A421T possibly damaging Het
Btn1a1 A C 13: 23,643,415 (GRCm39) W345G possibly damaging Het
C3 A T 17: 57,519,655 (GRCm39) M1199K probably benign Het
Ccdc18 T G 5: 108,296,835 (GRCm39) L213V possibly damaging Het
Cers2 T C 3: 95,228,072 (GRCm39) probably null Het
Chpt1 T A 10: 88,316,711 (GRCm39) H249L probably damaging Het
Cited2 A G 10: 17,600,364 (GRCm39) E224G possibly damaging Het
Cntn5 T A 9: 10,904,704 (GRCm39) probably benign Het
Col28a1 A G 6: 8,013,122 (GRCm39) S977P possibly damaging Het
Col6a1 T C 10: 76,560,843 (GRCm39) K52E probably damaging Het
Cpne2 T A 8: 95,282,172 (GRCm39) H239Q probably damaging Het
Cr2 A T 1: 194,842,909 (GRCm39) N244K possibly damaging Het
Csf2rb2 T C 15: 78,169,385 (GRCm39) D590G probably damaging Het
Defb25 A C 2: 152,464,380 (GRCm39) C55G probably damaging Het
Dnah7b A T 1: 46,391,973 (GRCm39) probably null Het
Dvl3 T A 16: 20,346,072 (GRCm39) Y467* probably null Het
Elapor2 T A 5: 9,495,384 (GRCm39) C729* probably null Het
Extl2 T C 3: 115,821,088 (GRCm39) S312P probably damaging Het
Fam178b T C 1: 36,639,548 (GRCm39) T313A probably benign Het
Fam186b A G 15: 99,183,471 (GRCm39) Y58H probably damaging Het
Fat1 A T 8: 45,484,505 (GRCm39) I3248L probably damaging Het
Fat2 A G 11: 55,172,088 (GRCm39) F2875S probably damaging Het
Flnb T A 14: 7,894,214 (GRCm38) N760K probably benign Het
Galnt14 T C 17: 73,801,190 (GRCm39) H544R probably benign Het
Gpr137c A C 14: 45,516,484 (GRCm39) R357S probably damaging Het
Grk2 A G 19: 4,340,630 (GRCm39) probably null Het
Hectd2 A T 19: 36,577,055 (GRCm39) T342S probably benign Het
Hjv G T 3: 96,435,542 (GRCm39) V267L possibly damaging Het
Ildr2 G T 1: 166,123,380 (GRCm39) G270C probably damaging Het
Insm2 C A 12: 55,647,357 (GRCm39) A367D probably damaging Het
Kcnh5 T A 12: 75,161,219 (GRCm39) I230F possibly damaging Het
Keg1 T A 19: 12,687,042 (GRCm39) S24T probably damaging Het
Kera A T 10: 97,448,714 (GRCm39) E311D probably benign Het
Kit T A 5: 75,767,758 (GRCm39) I47K probably benign Het
Megf6 A G 4: 154,343,379 (GRCm39) T663A possibly damaging Het
Mettl21c G A 1: 44,049,808 (GRCm39) A79V probably damaging Het
Mfsd1 T A 3: 67,507,391 (GRCm39) probably null Het
Mob3b A G 4: 34,985,914 (GRCm39) probably null Het
Morc2b T A 17: 33,356,926 (GRCm39) H282L probably benign Het
Mtpap T C 18: 4,380,889 (GRCm39) probably null Het
Mtus1 A G 8: 41,536,621 (GRCm39) V365A possibly damaging Het
Muc5ac T A 7: 141,367,559 (GRCm39) Y2993* probably null Het
Mycbp2 A C 14: 103,391,513 (GRCm39) F3422V probably benign Het
Ndufb7 T A 8: 84,297,490 (GRCm39) D48E probably benign Het
Nxpe5 A G 5: 138,237,704 (GRCm39) Y88C probably damaging Het
Or51a6 T A 7: 102,604,185 (GRCm39) M208L probably benign Het
Or5d3 A G 2: 88,174,905 (GRCm39) L64P probably damaging Het
Osbpl5 T A 7: 143,263,520 (GRCm39) D121V probably benign Het
Oxnad1 A T 14: 31,813,608 (GRCm39) H3L probably benign Het
Pam C A 1: 97,904,841 (GRCm39) probably benign Het
Papolg T C 11: 23,845,207 (GRCm39) probably benign Het
Pax1 G A 2: 147,208,190 (GRCm39) G266D probably damaging Het
Pde11a A T 2: 75,906,348 (GRCm39) M623K probably damaging Het
Peg3 GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC GTGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTCCTGGCCATGGGGCTTATCATCATGGGGCTC 7: 6,712,167 (GRCm39) probably benign Het
Phf21a A T 2: 92,189,502 (GRCm39) Q587L probably benign Het
Plcb3 A G 19: 6,941,746 (GRCm39) L336P probably damaging Het
Pnp2 T C 14: 51,201,931 (GRCm39) *306Q probably null Het
Pou5f2 A G 13: 78,173,392 (GRCm39) I111M probably benign Het
Pramel32 T A 4: 88,547,195 (GRCm39) M246L probably damaging Het
Prmt3 G T 7: 49,467,843 (GRCm39) A350S probably benign Het
Rac3 A T 11: 120,614,343 (GRCm39) R163* probably null Het
Raly G T 2: 154,699,432 (GRCm39) V79L probably benign Het
Rwdd3 A G 3: 120,964,987 (GRCm39) L56P probably benign Het
Serpina3a C T 12: 104,082,436 (GRCm39) H70Y possibly damaging Het
Sez6l2 A C 7: 126,552,915 (GRCm39) E227A possibly damaging Het
Shank1 C T 7: 43,976,585 (GRCm39) A561V unknown Het
Sidt2 C T 9: 45,864,517 (GRCm39) V71I probably benign Het
Slc35f6 T C 5: 30,815,051 (GRCm39) L326P probably damaging Het
Sox2 G A 3: 34,705,075 (GRCm39) G171S possibly damaging Het
Spef2 G A 15: 9,729,924 (GRCm39) R65C probably damaging Het
Spmap2 A T 10: 79,420,741 (GRCm39) probably null Het
Stip1 C T 19: 6,999,178 (GRCm39) G467S possibly damaging Het
Tada2a T A 11: 83,976,514 (GRCm39) I327F probably damaging Het
Tex2 A G 11: 106,435,071 (GRCm39) V785A unknown Het
Thada C A 17: 84,538,214 (GRCm39) probably null Het
Tmed1 G A 9: 21,420,550 (GRCm39) T94M possibly damaging Het
Tsr1 G T 11: 74,790,360 (GRCm39) M149I probably benign Het
Ttc8 T C 12: 98,942,761 (GRCm39) Y434H possibly damaging Het
Ttn A G 2: 76,578,519 (GRCm39) Y24125H probably damaging Het
Ttn G T 2: 76,552,253 (GRCm39) probably null Het
Ttn A G 2: 76,773,235 (GRCm39) I2435T unknown Het
Uggt2 T C 14: 119,251,938 (GRCm39) I1174M probably benign Het
Unc13b T C 4: 43,216,544 (GRCm39) I281T probably benign Het
Usp1 G T 4: 98,817,127 (GRCm39) K106N possibly damaging Het
Vwa3b A G 1: 37,174,634 (GRCm39) D15G Het
Zfp28 G A 7: 6,397,461 (GRCm39) C632Y probably damaging Het
Zfp68 T C 5: 138,604,580 (GRCm39) D581G probably benign Het
Zmynd10 A C 9: 107,424,716 (GRCm39) S21R probably benign Het
Zswim4 C T 8: 84,940,681 (GRCm39) R806H 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
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
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
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'- ATGTACCTGTGTAACGGCCAC -3'
(R):5'- GGCTTCATGAGACCCATCTTC -3'

Sequencing Primer
(F):5'- TAACGGCCACCTTAGGTTTGGAC -3'
(R):5'- GTCATCGAGAAAAGGGCT -3'
Posted On 2019-05-15