Mutagenetix > Incidental Mutation

Incidental Mutation 'R7638:Rbm20'

590111

Institutional Source

Beutler Lab

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

MMRRC Submission

045696-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7638 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53677306-53867080 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 53814333 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 424 (D424A)

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: D424A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: D424A

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: D424A

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: D424A

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: 99.8%
20x: 99.3%

Validation Efficiency

100% (71/71)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563D23Rik	A	G	16: 92,320,917	V161A	probably damaging	Het
Abo	T	G	2: 26,843,843	T115P	probably damaging	Het
Aggf1	G	A	13: 95,356,413	R563*	probably null	Het
Amdhd1	A	T	10: 93,534,498	Y159*	probably null	Het
BC027072	T	C	17: 71,750,885	D599G	probably damaging	Het
C77080	T	C	4: 129,221,941	T1022A	probably benign	Het
Camp	T	C	9: 109,848,393	E124G		Het
Casq2	A	G	3: 102,086,700	E21G	possibly damaging	Het
Cbln1	A	T	8: 87,471,729	F116Y	probably damaging	Het
Cklf	A	T	8: 104,263,364	K143*	probably null	Het
Clca3a1	A	G	3: 144,751,962	I387T	probably damaging	Het
Cndp1	T	A	18: 84,636,049	D130V	probably benign	Het
Cyp4a12a	T	A	4: 115,327,473	M317K	possibly damaging	Het
D13Ertd608e	A	T	13: 119,842,688		probably null	Het
Dmxl2	A	T	9: 54,457,794	I138K	unknown	Het
Eapp	A	G	12: 54,673,723	S236P	probably benign	Het
Efnb3	T	C	11: 69,557,220	H132R	possibly damaging	Het
Fbn2	A	T	18: 58,105,136	N596K	probably damaging	Het
Fzd9	A	G	5: 135,250,630	W134R	probably damaging	Het
Gga2	A	G	7: 122,003,934	S180P	probably damaging	Het
Gm11639	T	A	11: 105,036,799	M4798K	probably benign	Het
Gm30302	G	T	13: 49,786,975	Q420K	probably benign	Het
Golga3	A	G	5: 110,205,828	T911A	probably benign	Het
Gstm1	C	T	3: 108,014,550		probably null	Het
Heg1	A	G	16: 33,727,497	T909A	probably damaging	Het
Herc2	T	C	7: 56,157,438	S2455P	probably benign	Het
Herc2	C	T	7: 56,220,525	R4349W	probably damaging	Het
Hivep2	T	G	10: 14,143,851	M2122R	possibly damaging	Het
Itga10	T	A	3: 96,657,391		probably null	Het
Kbtbd13	G	T	9: 65,391,323	C110*	probably null	Het
Krt78	T	C	15: 101,950,883	E293G	probably damaging	Het
Lgals3bp	C	T	11: 118,398,169	V110M	possibly damaging	Het
Lrp2	A	G	2: 69,477,008		probably null	Het
Lrrc14	A	G	15: 76,713,973	D301G	probably benign	Het
Lrrc71	C	A	3: 87,741,806	G352W	probably damaging	Het
Map3k9	A	G	12: 81,724,732	V694A	probably benign	Het
Mboat2	T	C	12: 24,939,326	S162P	probably damaging	Het
Megf11	C	A	9: 64,679,253	N422K	probably damaging	Het
Miga1	C	T	3: 152,276,687	S584N	probably benign	Het
Mindy2	A	G	9: 70,616,859	Y403H	probably damaging	Het
Mmd	C	T	11: 90,276,757	A204V	possibly damaging	Het
Mta3	A	T	17: 83,800,143	Y262F	probably benign	Het
Ncoa7	G	A	10: 30,722,798	S43F	probably benign	Het
Nphp4	T	C	4: 152,554,534	V874A	probably benign	Het
Nsd1	A	G	13: 55,312,328	T2226A	probably benign	Het
Nt5dc1	T	C	10: 34,314,796	H302R	probably benign	Het
Odc1	A	G	12: 17,550,002	Y389C	probably damaging	Het
Olfr175-ps1	G	A	16: 58,824,595	T38I	probably damaging	Het
Olfr551	A	G	7: 102,587,918	I275T	probably damaging	Het
Olfr970	T	G	9: 39,819,893	F85V	probably damaging	Het
Pcdhb10	A	C	18: 37,412,312	Q147P	probably benign	Het
Pdcl2	A	C	5: 76,317,828	C182G	probably damaging	Het
Pigv	T	C	4: 133,665,451	D136G	possibly damaging	Het
Pramel5	T	C	4: 144,271,440	E411G	possibly damaging	Het
Prkce	T	C	17: 86,168,600	V3A	probably benign	Het
Pth1r	T	C	9: 110,722,393	N546S	probably benign	Het
Qrich2	C	T	11: 116,455,322	V1559I	probably benign	Het
Rbm26	C	T	14: 105,150,848	D393N	probably damaging	Het
Sf3b3	G	A	8: 110,820,813	R728C	probably damaging	Het
Srcap	A	G	7: 127,538,748	N1090S	probably benign	Het
Syt4	A	T	18: 31,443,822	S160T	probably benign	Het
Tfap2e	C	T	4: 126,721,934	V236M	probably damaging	Het
Thsd4	G	A	9: 60,394,472	T180M	probably damaging	Het
Tlr4	T	A	4: 66,840,206	M412K	probably damaging	Het
Tmem67	T	A	4: 12,079,883	H136L	probably benign	Het
Tnpo2	T	A	8: 85,044,415	I110N	probably benign	Het
Trav13d-3	A	G	14: 53,033,413	M111V	probably benign	Het
Tubb3	A	T	8: 123,421,161	S278C	probably benign	Het
Ugcg	T	A	4: 59,220,299	F364Y	probably benign	Het
Usp17lc	T	C	7: 103,418,499	S334P	probably damaging	Het
Vps13c	A	G	9: 67,945,509	D2357G	probably damaging	Het
Zfp157	T	C	5: 138,455,910	Y125H	probably benign	Het
Zfp747	A	T	7: 127,374,647	M117K	probably benign	Het
Znrd1	A	C	17: 36,957,830		probably null	Het
Zscan4c	A	T	7: 11,009,731	N419I	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
R7792:Rbm20	UTSW	19	53850136	missense	probably benign
R7823:Rbm20	UTSW	19	53843354	missense	probably benign	0.33
R7924:Rbm20	UTSW	19	53677585	missense	possibly damaging	0.63
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'- TCGGCTTAACAACAGCAAGC -3'
(R):5'- TTGAAGGAACCGAAGCTTCTAG -3'

Sequencing Primer
(F):5'- AAGCAGGGATTCGGCTGCTC -3'
(R):5'- GGAAAGAGGAAACCACTGCTTTTTCC -3'

Posted On

2019-10-24