Mutagenetix > Incidental Mutation

Incidental Mutation 'R7924:Rbm20'

643245

Institutional Source

Beutler Lab

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

MMRRC Submission

045971-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.148) question?

Stock #

R7924 (G1)

Quality Score

999

Status

Validated

Chromosome

Chromosomal Location

53677306-53867080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53677585 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 60 (I60F)

Ref Sequence

ENSEMBL: ENSMUSP00000093665 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095969] [ENSMUST00000164202]

AlphaFold

Q3UQS8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095969
AA Change: I60F

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: I60F

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000164202
AA Change: I60F

PolyPhen 2 Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: I60F

Domain	Start	End	E-Value	Type
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: 99.9%
20x: 99.7%

Validation Efficiency

99% (78/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022B05Rik	T	A	8: 124,663,312		probably benign	Het
4930435E12Rik	G	A	16: 38,812,464	Q369*	probably null	Het
Acacb	A	G	5: 114,245,220	K2155E	possibly damaging	Het
Adgre5	G	A	8: 83,729,400	P256S	possibly damaging	Het
Adipor1	T	A	1: 134,425,993	V172D	probably damaging	Het
Ahsa1	T	C	12: 87,270,456		probably null	Het
Ankrd11	T	C	8: 122,895,902	I404V	possibly damaging	Het
Asxl3	G	A	18: 22,525,545	R2204Q	probably damaging	Het
Barhl2	A	G	5: 106,457,649	S65P	unknown	Het
Bbx	A	T	16: 50,224,308	L630H	probably damaging	Het
Cars	T	C	7: 143,569,871	T531A	possibly damaging	Het
Catsperb	T	A	12: 101,520,565	H450Q	probably benign	Het
Cdt1	T	C	8: 122,569,352	L135P	probably damaging	Het
Cemip	A	T	7: 83,943,715		probably benign	Het
Cfap206	T	A	4: 34,728,833	H24L	probably benign	Het
Cnga4	T	A	7: 105,407,821	V480E	probably benign	Het
Cnot1	ACG	A	8: 95,745,647		probably null	Het
Ctcfl	G	A	2: 173,113,656	T271I	possibly damaging	Het
Dlc1	T	C	8: 36,571,416	R1003G	probably benign	Het
Dnah7b	A	G	1: 46,219,430	D1927G	probably benign	Het
Dscc1	A	T	15: 55,082,176	D374E	probably benign	Het
Eci2	G	A	13: 34,993,070	Q69*	probably null	Het
Ep300	C	A	15: 81,649,502	P1920Q	unknown	Het
Epha5	A	G	5: 84,084,846	Y629H	possibly damaging	Het
Fam208b	A	T	13: 3,594,331	F129Y	possibly damaging	Het
Fat2	G	A	11: 55,262,787	T3533I	probably benign	Het
Fat3	T	C	9: 15,999,297	N1803S	probably damaging	Het
Fcrls	T	C	3: 87,259,533	Y51C	probably damaging	Het
G530012D18Rik	C	G	1: 85,577,214	D113E	unknown	Het
Gcnt2	A	T	13: 40,918,564	K228*	probably null	Het
Gucy2c	A	T	6: 136,763,055	V258E	probably benign	Het
Hecw1	C	A	13: 14,322,528	L298F	probably damaging	Het
Hydin	T	G	8: 110,418,471	V818G	possibly damaging	Het
Hykk	A	G	9: 54,922,240	Y131C	probably damaging	Het
Ick	T	C	9: 78,155,464	L260P	probably damaging	Het
Mpo	A	G	11: 87,794,840	D48G	probably damaging	Het
Mrps10	T	C	17: 47,378,283	*202Q	probably null	Het
Mrps14	T	C	1: 160,196,989	V30A	probably benign	Het
Mtmr7	G	A	8: 40,606,884	A62V	possibly damaging	Het
Muc2	G	T	7: 141,695,388	G497W	probably damaging	Het
Nnt	A	T	13: 119,386,645	V237D	probably damaging	Het
Nox4	G	T	7: 87,374,381	V492L	probably benign	Het
Obscn	C	G	11: 59,112,555	E1306Q	probably benign	Het
Olfr303	A	G	7: 86,394,730	I256T	probably damaging	Het
Olfr993	T	C	2: 85,414,219	Y220C	probably benign	Het
Pard3	A	G	8: 127,410,750	N861S	probably benign	Het
Pdlim4	G	A	11: 54,055,222	R230*	probably null	Het
Pinlyp	C	T	7: 24,542,125	V159M	possibly damaging	Het
Pla2g4d	T	C	2: 120,289,164		probably benign	Het
Plcb1	A	T	2: 135,359,693	T855S	probably benign	Het
Pot1a	T	A	6: 25,753,310	D409V	possibly damaging	Het
Prom1	T	C	5: 44,029,769	D382G	probably benign	Het
Prss16	A	T	13: 22,008,664	N83K	probably damaging	Het
Ptprn2	A	G	12: 116,841,264	D133G	probably benign	Het
Rasef	C	T	4: 73,740,929		probably null	Het
Rbak	A	G	5: 143,174,486	S271P	probably damaging	Het
Rftn1	G	T	17: 50,047,380	A318D	probably damaging	Het
Rsf1	G	GACGGCCGCC	7: 97,579,909		probably benign	Het
Serpinb3c	A	G	1: 107,273,174	L171P	probably damaging	Het
Slc25a19	T	C	11: 115,615,550	Y211C	unknown	Het
Sorbs2	C	T	8: 45,795,470	S586L	probably damaging	Het
Spesp1	A	T	9: 62,273,451	S58R	probably benign	Het
Spryd3	A	G	15: 102,118,327	I329T	probably benign	Het
St8sia2	G	A	7: 73,966,952	L113F	probably damaging	Het
Star	T	C	8: 25,809,855	I75T	possibly damaging	Het
Tdrd6	T	A	17: 43,627,806	I784F	possibly damaging	Het
Tsc22d4	A	G	5: 137,768,011	I144V	unknown	Het
Tspan8	T	C	10: 115,833,324		probably null	Het
Ttll9	C	T	2: 152,962,487		probably benign	Het
Ttn	T	C	2: 76,809,850		probably benign	Het
Ubr4	T	G	4: 139,467,276	L1160R	unknown	Het
Ufd1	A	G	16: 18,823,285	Y162C	possibly damaging	Het
Unc13c	A	T	9: 73,734,408	F1268I	probably benign	Het
Uvssa	T	C	5: 33,410,951	I561T	probably damaging	Het
Vmn2r15	A	T	5: 109,286,388	S817T	probably damaging	Het
Ybx1	T	C	4: 119,282,279	E173G	probably damaging	Het
Zc3h6	T	C	2: 129,015,480	S640P	possibly damaging	Het

Other mutations in Rbm20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00419:Rbm20	APN	19	53843264	missense	probably damaging	1.00
IGL00815:Rbm20	APN	19	53815517	missense	probably damaging	1.00
IGL00845:Rbm20	APN	19	53817949	missense	probably damaging	1.00
IGL01408:Rbm20	APN	19	53851613	missense	possibly damaging	0.95
IGL01663:Rbm20	APN	19	53840995	missense	probably damaging	1.00
IGL01902:Rbm20	APN	19	53840991	missense	probably damaging	0.99
IGL01942:Rbm20	APN	19	53813443	missense	probably damaging	1.00
IGL02964:Rbm20	APN	19	53813702	missense	probably benign	0.02
IGL03326:Rbm20	APN	19	53814000	missense	possibly damaging	0.85
BB001:Rbm20	UTSW	19	53677585	missense	possibly damaging	0.63
BB002:Rbm20	UTSW	19	53813322	missense	probably damaging	0.97
BB011:Rbm20	UTSW	19	53677585	missense	possibly damaging	0.63
BB012:Rbm20	UTSW	19	53813322	missense	probably damaging	0.97
R0326:Rbm20	UTSW	19	53864165	missense	probably damaging	1.00
R0487:Rbm20	UTSW	19	53851195	missense	probably damaging	1.00
R0965:Rbm20	UTSW	19	53859401	missense	probably damaging	1.00
R1435:Rbm20	UTSW	19	53814157	missense	probably benign	0.16
R1914:Rbm20	UTSW	19	53864087	missense	probably damaging	1.00
R1915:Rbm20	UTSW	19	53864087	missense	probably damaging	1.00
R2011:Rbm20	UTSW	19	53859428	missense	probably damaging	1.00
R2012:Rbm20	UTSW	19	53859428	missense	probably damaging	1.00
R2258:Rbm20	UTSW	19	53851741	missense	probably benign
R3947:Rbm20	UTSW	19	53813337	missense	probably benign	0.35
R4305:Rbm20	UTSW	19	53843260	missense	probably damaging	1.00
R4308:Rbm20	UTSW	19	53843260	missense	probably damaging	1.00
R4521:Rbm20	UTSW	19	53817202	missense	probably benign	0.14
R4970:Rbm20	UTSW	19	53851669	missense	probably damaging	0.99
R5266:Rbm20	UTSW	19	53813387	missense	probably damaging	1.00
R5475:Rbm20	UTSW	19	53834705	nonsense	probably null
R5503:Rbm20	UTSW	19	53851354	missense	possibly damaging	0.75
R5995:Rbm20	UTSW	19	53851267	missense	possibly damaging	0.95
R6836:Rbm20	UTSW	19	53814069	missense	probably damaging	0.98
R6947:Rbm20	UTSW	19	53851265	missense	probably damaging	1.00
R7030:Rbm20	UTSW	19	53834766	missense	probably damaging	1.00
R7117:Rbm20	UTSW	19	53851558	missense	possibly damaging	0.92
R7237:Rbm20	UTSW	19	53851499	missense	probably benign	0.04
R7638:Rbm20	UTSW	19	53814333	missense	possibly damaging	0.95
R7792:Rbm20	UTSW	19	53850136	missense	probably benign
R7823:Rbm20	UTSW	19	53843354	missense	probably benign	0.33
R7925:Rbm20	UTSW	19	53813322	missense	probably damaging	0.97
R8044:Rbm20	UTSW	19	53817971	missense	probably benign	0.44
R8045:Rbm20	UTSW	19	53817971	missense	probably benign	0.44
R8046:Rbm20	UTSW	19	53817971	missense	probably benign	0.44
R8100:Rbm20	UTSW	19	53851313	missense	possibly damaging	0.85
R8292:Rbm20	UTSW	19	53851499	missense	possibly damaging	0.71
R8366:Rbm20	UTSW	19	53850181	missense	possibly damaging	0.95
R8518:Rbm20	UTSW	19	53851492	missense	probably benign	0.18
R8799:Rbm20	UTSW	19	53832689	missense	probably damaging	1.00
R8873:Rbm20	UTSW	19	53677480	missense	probably benign	0.00
R8886:Rbm20	UTSW	19	53813336	missense	probably benign	0.00
R9194:Rbm20	UTSW	19	53834700	missense	probably damaging	1.00
R9226:Rbm20	UTSW	19	53851214	missense	possibly damaging	0.92
R9765:Rbm20	UTSW	19	53851629	missense	probably benign
R9793:Rbm20	UTSW	19	53864120	missense	probably benign	0.03
R9795:Rbm20	UTSW	19	53864120	missense	probably benign	0.03
RF016:Rbm20	UTSW	19	53813732	missense	probably benign	0.00
Z1177:Rbm20	UTSW	19	53851685	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CCAGTGAGCGCTTGTGTTC -3'
(R):5'- GACTGCGTTCTACCCAATATCACC -3'

Sequencing Primer
(F):5'- TTGTGTTCCGGGACCGC -3'
(R):5'- GCGTTCTACCCAATATCACCAACAAG -3'

Posted On

2020-08-07