Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:Rbm20'

214823

Institutional Source

Beutler Lab

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

MMRRC Submission

039933-MU

Accession Numbers

Essential gene?

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

Stock #

R1915 (G1)

Quality Score

187

Status

Validated

Chromosome

Chromosomal Location

53665737-53855511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 53852518 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1166 (L1166Q)

Ref Sequence

ENSEMBL: ENSMUSP00000129447 (fasta)

Gene Model

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

AlphaFold

Q3UQS8

Predicted Effect

probably benign
Transcript: ENSMUST00000161856

SMART Domains

Protein: ENSMUSP00000124363
Gene: ENSMUSG00000043639

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 damaging
Transcript: ENSMUST00000164202
AA Change: L1166Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: L1166Q

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Adam2	C	A	14: 66,275,006 (GRCm39)	V576F	possibly damaging	Het
Afmid	T	C	11: 117,726,625 (GRCm39)	F250L	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
F5	C	A	1: 164,010,486 (GRCm39)	R406S	probably damaging	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Stk36	T	A	1: 74,673,346 (GRCm39)	S1080T	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	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
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
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'- GAACACACAGGCGTACATGC -3'
(R):5'- CTTCAGCCTGTTCTGCAAGC -3'

Sequencing Primer
(F):5'- AGGCGTACATGCACACAC -3'
(R):5'- TGTTCTGCAAGCCCAAGC -3'

Posted On

2014-07-14