Mutagenetix > Incidental Mutation

Incidental Mutation 'R2258:Rbm20'

243592

Institutional Source

Beutler Lab

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

MMRRC Submission

040258-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R2258 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

53665737-53855511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53840172 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1054 (S1054P)

Ref Sequence

ENSEMBL: ENSMUSP00000129447 (fasta)

Gene Model

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

AlphaFold

Q3UQS8

Predicted Effect

unknown
Transcript: ENSMUST00000161856
AA Change: S429P

SMART Domains

Protein: ENSMUSP00000124363
Gene: ENSMUSG00000043639
AA Change: S429P

Domain	Start	End	E-Value	Type
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: S1054P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: S1054P

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: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.5%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,207,267 (GRCm39)	N308S	possibly damaging	Het
Acot5	A	T	12: 84,122,643 (GRCm39)	H409L	possibly damaging	Het
Ang4	A	G	14: 52,001,955 (GRCm39)		probably benign	Het
Ap3d1	A	G	10: 80,556,966 (GRCm39)	S315P	probably benign	Het
Arhgap15	G	A	2: 44,276,359 (GRCm39)	G437R	probably damaging	Het
Cacna2d1	T	C	5: 16,562,287 (GRCm39)	C810R	probably damaging	Het
Capn5	A	G	7: 97,785,082 (GRCm39)	W131R	probably damaging	Het
Ccnj	A	G	19: 40,834,277 (GRCm39)	Q292R	probably benign	Het
Cd177	A	G	7: 24,455,661 (GRCm39)	V287A	possibly damaging	Het
Cdk5r2	T	C	1: 74,895,059 (GRCm39)	L268P	probably damaging	Het
Cfap251	C	G	5: 123,421,411 (GRCm39)		probably null	Het
Clrn2	A	G	5: 45,611,304 (GRCm39)	D51G	probably benign	Het
Cntd1	T	C	11: 101,175,682 (GRCm39)	S174P	probably damaging	Het
Col11a2	A	G	17: 34,258,651 (GRCm39)	H8R	probably benign	Het
Col17a1	C	T	19: 47,669,816 (GRCm39)		probably null	Het
Cyp2a5	A	G	7: 26,536,528 (GRCm39)	D169G	possibly damaging	Het
Cyp2c37	A	G	19: 39,984,303 (GRCm39)	I264V	possibly damaging	Het
Cyp2j12	A	G	4: 96,021,315 (GRCm39)	I97T	probably damaging	Het
Dipk1b	T	C	2: 26,525,162 (GRCm39)	L157P	probably damaging	Het
Eif3b	T	C	5: 140,413,258 (GRCm39)	F354L	possibly damaging	Het
Eif4a3l1	A	T	6: 136,305,559 (GRCm39)	M7L	probably benign	Het
Entpd2	C	T	2: 25,288,099 (GRCm39)	P108S	probably damaging	Het
F5	T	A	1: 164,019,750 (GRCm39)	S742T	probably damaging	Het
Fam187a	A	G	11: 102,776,124 (GRCm39)		probably benign	Het
Fam43b	G	C	4: 138,122,409 (GRCm39)	R304G	probably benign	Het
Flnc	G	A	6: 29,438,665 (GRCm39)	W186*	probably null	Het
Fndc3b	G	T	3: 27,494,309 (GRCm39)	Q939K	possibly damaging	Het
Gja4	C	A	4: 127,206,623 (GRCm39)	D47Y	probably damaging	Het
Gm11565	T	G	11: 99,805,844 (GRCm39)	C79G	possibly damaging	Het
Gpbar1	T	C	1: 74,318,164 (GRCm39)	F136L	probably benign	Het
Gsn	G	A	2: 35,180,349 (GRCm39)	G130E	probably damaging	Het
Hecw1	A	T	13: 14,490,723 (GRCm39)	D756E	probably benign	Het
Hrc	C	A	7: 44,986,105 (GRCm39)	R419S	possibly damaging	Het
Inpp4a	T	A	1: 37,416,777 (GRCm39)	S433T	probably damaging	Het
Ism2	C	A	12: 87,326,848 (GRCm39)	V320L	possibly damaging	Het
Krt8	G	T	15: 101,907,257 (GRCm39)	D275E	probably benign	Het
Lgalsl2	A	G	7: 5,362,401 (GRCm39)	M11V	probably benign	Het
Lyg2	A	C	1: 37,948,077 (GRCm39)	N132K	probably benign	Het
Lyst	G	A	13: 13,812,243 (GRCm39)	R885Q	probably benign	Het
Marveld2	A	G	13: 100,748,978 (GRCm39)	S34P	probably benign	Het
Mcc	C	A	18: 44,608,203 (GRCm39)	G355W	probably damaging	Het
Mllt6	T	C	11: 97,555,802 (GRCm39)	V44A	probably damaging	Het
Mrgpra3	A	T	7: 47,239,842 (GRCm39)	M28K	probably benign	Het
Ms4a15	A	G	19: 10,962,159 (GRCm39)	C47R	probably benign	Het
Muc5ac	A	G	7: 141,344,745 (GRCm39)	N72S	probably benign	Het
Myo18b	C	T	5: 113,022,529 (GRCm39)		probably benign	Het
Nat8f4	A	T	6: 85,878,207 (GRCm39)	H105Q	possibly damaging	Het
Ncapd3	A	G	9: 26,967,368 (GRCm39)	D568G	probably benign	Het
Nptx1	T	G	11: 119,434,142 (GRCm39)	I315L	probably benign	Het
Nrap	T	C	19: 56,310,394 (GRCm39)	R1534G	possibly damaging	Het
Nwd2	C	A	5: 63,962,499 (GRCm39)	N694K	probably benign	Het
Oas1c	G	A	5: 120,941,082 (GRCm39)	A35V	probably null	Het
Or2d3b	A	G	7: 106,514,113 (GRCm39)	K236R	probably damaging	Het
Or5bw2	A	T	7: 6,573,022 (GRCm39)	I11F	probably damaging	Het
Or5p58	C	T	7: 107,694,402 (GRCm39)	R125H	possibly damaging	Het
Or8d1b	T	C	9: 38,887,296 (GRCm39)	V108A	probably benign	Het
Pate8	C	A	9: 36,493,161 (GRCm39)	V54L	probably benign	Het
Pde2a	A	T	7: 101,133,774 (GRCm39)	D85V	probably damaging	Het
Plaat5	C	T	19: 7,590,111 (GRCm39)	R46C	probably damaging	Het
Polr1f	A	G	12: 33,483,587 (GRCm39)	H113R	probably damaging	Het
Prex1	C	T	2: 166,429,077 (GRCm39)	V839I	probably benign	Het
Psmd3	T	A	11: 98,581,790 (GRCm39)	M305K	probably benign	Het
Rhox13	G	C	X: 37,210,221 (GRCm39)	E19Q	unknown	Het
Ryr2	A	G	13: 11,753,102 (GRCm39)	F1740L	possibly damaging	Het
Sox1	C	A	8: 12,446,927 (GRCm39)	N189K	possibly damaging	Het
Spta1	C	A	1: 174,001,907 (GRCm39)	S12R	possibly damaging	Het
Stard13	A	G	5: 150,963,196 (GRCm39)	L971P	probably damaging	Het
Tigd4	T	A	3: 84,501,600 (GRCm39)	N172K	probably benign	Het
Tmt1a	A	T	15: 100,211,049 (GRCm39)	I174F	probably benign	Het
Ttyh1	T	C	7: 4,131,183 (GRCm39)	V218A	probably damaging	Het
Unc45b	T	A	11: 82,808,625 (GRCm39)	M237K	probably benign	Het
Vldlr	A	G	19: 27,215,786 (GRCm39)	D220G	probably damaging	Het
Vps13c	A	G	9: 67,861,142 (GRCm39)	N2891S	probably benign	Het
Wdr25	T	A	12: 108,864,100 (GRCm39)	S82T	possibly damaging	Het
Wnk4	C	A	11: 101,165,861 (GRCm39)	P796Q	probably damaging	Het
Xpo5	C	T	17: 46,551,822 (GRCm39)	Q1050*	probably null	Het
Zc3h15	G	A	2: 83,487,360 (GRCm39)	V60I	probably benign	Het
Zfp629	G	A	7: 127,210,963 (GRCm39)	T282M	probably damaging	Het
Zscan22	T	G	7: 12,637,887 (GRCm39)	V93G	probably damaging	Het

Other mutations in Rbm20

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- CTAAATCTGGATGCTGAGCGG -3'
(R):5'- TGTTCCAGCCTGCACATAC -3'

Sequencing Primer
(F):5'- TGAAAGCGAGACAGGCCTCTC -3'
(R):5'- CATACCCACATGTCCTGAGG -3'

Posted On

2014-10-16