Incidental Mutation 'R7237:Rbm20'
ID 562939
Institutional Source Beutler Lab
Gene Symbol Rbm20
Ensembl Gene ENSMUSG00000043639
Gene Name RNA binding motif protein 20
Synonyms 2010003H22Rik, 1110018J23Rik
MMRRC Submission 045344-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R7237 (G1)
Quality Score 225.009
Status Validated
Chromosome 19
Chromosomal Location 53665737-53855511 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 53839930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 973 (T973M)
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: T348M

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 benign
Transcript: ENSMUST00000164202
AA Change: T973M

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: T973M

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: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 98% (83/85)
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: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap21 A T 2: 20,854,783 (GRCm39) C1536* probably null Het
Armc9 C A 1: 86,092,571 (GRCm39) Q169K possibly damaging Het
Aspm T A 1: 139,405,667 (GRCm39) M1518K possibly damaging Het
AU018091 A G 7: 3,209,006 (GRCm39) I360T probably benign Het
BB014433 C A 8: 15,091,765 (GRCm39) V363L probably benign Het
Bcam T C 7: 19,503,232 (GRCm39) probably null Het
Cacna1g T C 11: 94,328,705 (GRCm39) S1071G probably benign Het
Card9 A T 2: 26,246,787 (GRCm39) S354T probably benign Het
Ccdc87 A G 19: 4,889,790 (GRCm39) N94S probably benign Het
Cdc27 A G 11: 104,408,245 (GRCm39) V555A probably benign Het
Coro1a T A 7: 126,299,478 (GRCm39) D411V probably benign Het
Cybrd1 GGTCCTGCAC G 2: 70,948,553 (GRCm39) probably benign Het
Cyth1 A T 11: 118,076,321 (GRCm39) I95N probably damaging Het
Dnah7b A T 1: 46,179,126 (GRCm39) E933V probably damaging Het
Dync2h1 A T 9: 6,993,966 (GRCm39) I3968N probably benign Het
Fam184a T C 10: 53,510,489 (GRCm39) probably benign Het
Fat3 G A 9: 16,288,510 (GRCm39) L338F probably damaging Het
Fcgr3 A G 1: 170,886,870 (GRCm39) L18P probably damaging Het
Gbp5 T C 3: 142,213,461 (GRCm39) V459A probably benign Het
Gja4 A T 4: 127,205,956 (GRCm39) M269K probably benign Het
Gm4787 A G 12: 81,424,442 (GRCm39) V572A probably damaging Het
Grin2d G T 7: 45,515,600 (GRCm39) S131* probably null Het
Gys1 A G 7: 45,104,586 (GRCm39) D671G probably benign Het
Haspin T C 11: 73,027,712 (GRCm39) N459S probably benign Het
Hdac10 G T 15: 89,009,580 (GRCm39) Q451K probably benign Het
Hdac9 T C 12: 34,424,139 (GRCm39) probably null Het
Hmcn1 A G 1: 150,598,394 (GRCm39) V1636A probably damaging Het
Hpca A G 4: 129,012,407 (GRCm39) L43P probably damaging Het
Hycc2 G A 1: 58,569,107 (GRCm39) Q491* probably null Het
Insm1 C A 2: 146,064,448 (GRCm39) A88E possibly damaging Het
Itga9 A G 9: 118,465,670 (GRCm39) K175E probably benign Het
Kif13a A G 13: 46,962,632 (GRCm39) probably null Het
Kif20b T A 19: 34,928,005 (GRCm39) L1089H probably damaging Het
Lamp5 A T 2: 135,901,755 (GRCm39) H152L probably benign Het
Lrp4 T C 2: 91,303,528 (GRCm39) F76L probably benign Het
Magi3 T C 3: 103,935,227 (GRCm39) D902G probably damaging Het
Map10 C T 8: 126,397,963 (GRCm39) P452L probably benign Het
Mapk6 A G 9: 75,304,895 (GRCm39) L174P probably damaging Het
Meak7 C T 8: 120,489,054 (GRCm39) G410S probably damaging Het
Ndufa4 C T 6: 11,906,018 (GRCm39) probably null Het
Nedd4 A T 9: 72,632,346 (GRCm39) E393D probably benign Het
Nlrp4b G A 7: 10,449,143 (GRCm39) V449I probably benign Het
Nufip2 T A 11: 77,583,596 (GRCm39) N503K probably benign Het
Or10ac1 T C 6: 42,515,581 (GRCm39) D125G probably damaging Het
Or6y1 C T 1: 174,276,905 (GRCm39) R239C probably benign Het
P4ha1 A G 10: 59,184,065 (GRCm39) T176A probably benign Het
Palm3 A G 8: 84,756,117 (GRCm39) K543R probably benign Het
Parvg G A 15: 84,225,557 (GRCm39) A302T probably benign Het
Pcdh15 A G 10: 74,420,023 (GRCm39) D1227G possibly damaging Het
Pdzd8 C T 19: 59,333,571 (GRCm39) G150D probably damaging Het
Pitpnm2 A G 5: 124,263,360 (GRCm39) probably null Het
Pld5 T C 1: 176,102,301 (GRCm39) Q47R possibly damaging Het
Ppp2r5d T C 17: 46,997,206 (GRCm39) S329G possibly damaging Het
Prss56 T C 1: 87,112,637 (GRCm39) V144A probably damaging Het
Psg28 A T 7: 18,161,769 (GRCm39) Y245N possibly damaging Het
Ptpn3 C T 4: 57,239,625 (GRCm39) V302I probably damaging Het
Ptprn2 A G 12: 117,125,347 (GRCm39) H627R probably benign Het
Rasgrp2 A T 19: 6,454,838 (GRCm39) H226L possibly damaging Het
Rigi T A 4: 40,205,938 (GRCm39) I885F probably benign Het
Riok2 T A 17: 17,598,045 (GRCm39) L44Q probably damaging Het
Rusc1 G T 3: 88,998,805 (GRCm39) Q326K possibly damaging Het
Rxylt1 A T 10: 121,917,523 (GRCm39) L330* probably null Het
Sart3 A T 5: 113,892,307 (GRCm39) H397Q possibly damaging Het
Sec31b T A 19: 44,506,147 (GRCm39) T920S probably damaging Het
Serpinb13 A G 1: 106,926,679 (GRCm39) E225G probably damaging Het
Slc25a47 T C 12: 108,821,386 (GRCm39) L165P probably damaging Het
Slc2a10 G A 2: 165,357,197 (GRCm39) V286I probably benign Het
Slc39a13 G T 2: 90,895,979 (GRCm39) T174N probably benign Het
Slc7a13 T A 4: 19,839,364 (GRCm39) N322K probably benign Het
Stk38 T C 17: 29,193,620 (GRCm39) T326A possibly damaging Het
Sult1a1 T C 7: 126,272,622 (GRCm39) M244V probably benign Het
Tas2r144 C T 6: 42,192,800 (GRCm39) T180I probably damaging Het
Tbc1d12 T A 19: 38,887,346 (GRCm39) M366K probably benign Het
Terb1 T C 8: 105,221,959 (GRCm39) I147V possibly damaging Het
Tnik T C 3: 28,692,568 (GRCm39) Y820H probably damaging Het
Tnxb C A 17: 34,901,170 (GRCm39) L995I possibly damaging Het
Trim34b A G 7: 103,978,794 (GRCm39) T14A possibly damaging Het
Urb1 T C 16: 90,588,054 (GRCm39) E418G probably damaging Het
Vmn1r12 T A 6: 57,136,550 (GRCm39) C216S possibly damaging Het
Vmn2r90 T A 17: 17,924,249 (GRCm39) V16E possibly damaging Het
Vps11 A T 9: 44,265,803 (GRCm39) V492D probably damaging Het
Wdr62 A C 7: 29,969,869 (GRCm39) probably null Het
Zc3h14 T A 12: 98,746,408 (GRCm39) M539K probably benign Het
Zfp871 A T 17: 32,994,289 (GRCm39) H295Q 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
R7117:Rbm20 UTSW 19 53,839,989 (GRCm39) missense possibly damaging 0.92
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'- TTGTGCCTATTGACCAGAAAGAC -3'
(R):5'- CCTTGCAGTCATCGAGAAAAGG -3'

Sequencing Primer
(F):5'- GTGCCTATTGACCAGAAAGACAAAAC -3'
(R):5'- TCATCGAGAAAAGGGCTGGACTG -3'
Posted On 2019-06-26