Mutagenetix > Incidental Mutation

Incidental Mutation 'R7030:Rbm20'

546297

Institutional Source

Beutler Lab

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

MMRRC Submission

045131-MU

Accession Numbers

Essential gene?

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

Stock #

R7030 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53665737-53855511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53823197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 598 (E598G)

Ref Sequence

ENSEMBL: ENSMUSP00000129447 (fasta)

Gene Model

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

AlphaFold

Q3UQS8

Predicted Effect

probably damaging
Transcript: ENSMUST00000095969
AA Change: E598G

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

SMART Domains

Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: E598G

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

probably damaging
Transcript: ENSMUST00000164202
AA Change: E598G

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

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: E598G

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

0.2348

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (92/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	T	4: 144,430,173 (GRCm39)	A272D	possibly damaging	Het
Abr	A	T	11: 76,350,038 (GRCm39)	I347N	probably damaging	Het
Acbd4	T	A	11: 102,994,985 (GRCm39)	L50Q	probably damaging	Het
Acsl5	T	G	19: 55,261,251 (GRCm39)	Y69*	probably null	Het
Agtpbp1	G	A	13: 59,652,108 (GRCm39)	T401I	probably damaging	Het
Ap3m2	C	T	8: 23,289,807 (GRCm39)	E99K	probably damaging	Het
Arhgef28	A	T	13: 98,124,769 (GRCm39)	S504R	possibly damaging	Het
Arsj	T	A	3: 126,232,752 (GRCm39)	D499E	probably damaging	Het
Bach1	G	A	16: 87,516,179 (GRCm39)	R240Q	probably benign	Het
Camk2b	T	C	11: 5,939,575 (GRCm39)	D232G	probably damaging	Het
Casc3	C	T	11: 98,713,359 (GRCm39)	P258S	possibly damaging	Het
Catspere2	T	A	1: 177,845,280 (GRCm39)	I100N	probably damaging	Het
Ccdc80	T	A	16: 44,943,252 (GRCm39)	N787K	possibly damaging	Het
Celsr1	C	A	15: 85,789,679 (GRCm39)	C2653F	probably damaging	Het
Cep170	T	C	1: 176,584,051 (GRCm39)	E11G	probably damaging	Het
Chia1	A	C	3: 106,022,641 (GRCm39)	N12H	probably damaging	Het
Chrna4	T	C	2: 180,671,334 (GRCm39)	T141A	probably damaging	Het
Col25a1	T	C	3: 130,272,671 (GRCm39)		probably null	Het
Dcstamp	A	T	15: 39,622,929 (GRCm39)	I417F	probably damaging	Het
Dnah5	A	G	15: 28,238,738 (GRCm39)	I427V	probably benign	Het
Dnah5	A	G	15: 28,333,208 (GRCm39)	E2203G	probably benign	Het
Dnmt3c	A	T	2: 153,559,345 (GRCm39)	S409C	probably damaging	Het
Dock6	A	T	9: 21,724,375 (GRCm39)	M1541K	probably damaging	Het
Dzip1l	C	T	9: 99,547,888 (GRCm39)	T714I	probably benign	Het
Exoc6b	T	C	6: 84,825,807 (GRCm39)	R535G	probably damaging	Het
Fam83h	A	G	15: 75,876,588 (GRCm39)	S250P	probably benign	Het
Fat4	C	T	3: 39,036,107 (GRCm39)	T3253I	probably damaging	Het
Fer1l6	T	A	15: 58,501,227 (GRCm39)	F1302I	probably damaging	Het
Fmnl1	T	G	11: 103,085,600 (GRCm39)		probably benign	Het
Gckr	C	A	5: 31,459,554 (GRCm39)	F201L	possibly damaging	Het
Gm10036	A	G	18: 15,966,292 (GRCm39)	T148A	probably benign	Het
Gm5142	G	A	14: 59,415,909 (GRCm39)	S83F	probably benign	Het
Gpr37	A	T	6: 25,689,004 (GRCm39)	V31D	possibly damaging	Het
Gramd2b	A	T	18: 56,618,321 (GRCm39)	Y207F	probably damaging	Het
Hr	T	C	14: 70,801,124 (GRCm39)		probably null	Het
Igf2r	A	G	17: 12,952,753 (GRCm39)	L231P	probably damaging	Het
Ighv1-66	A	T	12: 115,557,157 (GRCm39)	W3R	probably damaging	Het
Insyn2b	T	A	11: 34,352,030 (GRCm39)	V24E	probably damaging	Het
Kcnu1	T	C	8: 26,408,491 (GRCm39)	S101P	probably benign	Het
Klhl23	T	G	2: 69,664,310 (GRCm39)	V553G	probably damaging	Het
Lrp1	T	C	10: 127,388,745 (GRCm39)	I3235V	probably damaging	Het
Mb	A	T	15: 76,900,256 (GRCm39)	I57N	probably damaging	Het
Micu1	T	C	10: 59,624,843 (GRCm39)	I295T	possibly damaging	Het
Mink1	G	A	11: 70,498,601 (GRCm39)	V589I	possibly damaging	Het
Mndal	T	C	1: 173,703,160 (GRCm39)	K82E	probably damaging	Het
Mroh1	A	C	15: 76,321,517 (GRCm39)	K1066T	probably benign	Het
Muc5b	T	A	7: 141,396,192 (GRCm39)	N149K	unknown	Het
Myo7b	G	T	18: 32,104,626 (GRCm39)	L1404I	probably damaging	Het
Nlrc4	A	G	17: 74,753,001 (GRCm39)	S461P	probably damaging	Het
Nudt12	A	T	17: 59,310,348 (GRCm39)	D418E	probably benign	Het
Or2g7	T	A	17: 38,378,948 (GRCm39)	D295E	probably benign	Het
Or5g27	G	T	2: 85,409,746 (GRCm39)	R54S	possibly damaging	Het
Pcdha1	A	G	18: 37,292,326 (GRCm39)	H817R	probably damaging	Het
Pcdha4	A	G	18: 37,087,080 (GRCm39)	Y421C	probably damaging	Het
Pcf11	T	C	7: 92,306,886 (GRCm39)	D1094G	probably benign	Het
Pck2	A	T	14: 55,785,223 (GRCm39)	D427V	probably damaging	Het
Pclo	A	G	5: 14,726,421 (GRCm39)	T1760A	probably benign	Het
Pdzk1ip1	T	A	4: 114,950,188 (GRCm39)	Y83N	probably damaging	Het
Pgs1	T	C	11: 117,893,312 (GRCm39)	I213T	probably damaging	Het
Plin4	T	A	17: 56,410,969 (GRCm39)	T1021S	probably damaging	Het
Plxnb1	T	A	9: 108,941,375 (GRCm39)	I1677N	probably damaging	Het
Pm20d2	T	C	4: 33,174,752 (GRCm39)	E378G	possibly damaging	Het
Prkcq	T	G	2: 11,231,661 (GRCm39)		probably null	Het
Psmd2	C	T	16: 20,480,883 (GRCm39)	P780L	probably damaging	Het
Pvr	A	G	7: 19,639,105 (GRCm39)	S392P	possibly damaging	Het
Rad51ap2	G	C	12: 11,507,432 (GRCm39)	L451F	possibly damaging	Het
Rho	A	T	6: 115,912,504 (GRCm39)	N123Y	possibly damaging	Het
Rictor	T	C	15: 6,737,934 (GRCm39)		probably null	Het
Rilpl2	T	G	5: 124,606,656 (GRCm39)	K186T	probably damaging	Het
Rps6ka4	A	C	19: 6,816,992 (GRCm39)	L61R	probably damaging	Het
Sds	C	A	5: 120,618,890 (GRCm39)	Q118K	probably benign	Het
Septin1	C	T	7: 126,816,157 (GRCm39)	R91K	probably benign	Het
Sf3a3	A	G	4: 124,616,673 (GRCm39)	Y185C	probably damaging	Het
Shtn1	T	C	19: 58,998,266 (GRCm39)	M376V	possibly damaging	Het
Slc6a9	A	G	4: 117,714,633 (GRCm39)	T189A	possibly damaging	Het
Slc7a6	T	G	8: 106,922,606 (GRCm39)	V464G	possibly damaging	Het
Smg8	T	A	11: 86,975,919 (GRCm39)	D554V	probably damaging	Het
Sox8	A	G	17: 25,789,082 (GRCm39)		probably null	Het
Spata31e4	G	T	13: 50,857,019 (GRCm39)	V886L	possibly damaging	Het
Spats2l	T	A	1: 57,918,689 (GRCm39)	V41D	probably damaging	Het
Sult2a3	A	T	7: 13,801,493 (GRCm39)	F282Y	probably damaging	Het
Svs3a	T	G	2: 164,132,091 (GRCm39)	Y220D	probably damaging	Het
Teddm1a	T	A	1: 153,768,369 (GRCm39)	Y278N	probably damaging	Het
Tlk1	T	C	2: 70,552,272 (GRCm39)	Y526C	probably damaging	Het
Tmc3	T	A	7: 83,266,025 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,596,583 (GRCm39)	E20110V	probably damaging	Het
Tulp4	A	G	17: 6,264,941 (GRCm39)	D235G	probably damaging	Het
Usp50	T	C	2: 126,622,395 (GRCm39)	Y55C	possibly damaging	Het
Vmn1r224	T	C	17: 20,639,789 (GRCm39)	L122P	probably benign	Het
Vmn2r62	A	G	7: 42,438,473 (GRCm39)	L121P	possibly damaging	Het
Whrn	G	T	4: 63,413,368 (GRCm39)		probably benign	Het
Zer1	G	T	2: 30,001,033 (GRCm39)	H129Q	probably benign	Het
Zfand4	G	A	6: 116,282,618 (GRCm39)	A64T	probably benign	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
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
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'- CTCTAAGGACTCGAACTCGC -3'
(R):5'- CAGACCCTCCTGACAATGAG -3'

Sequencing Primer
(F):5'- CCGTTGATTATATCACCATGGAATCC -3'
(R):5'- GACAATGAGCCCTTTTCTCGC -3'

Posted On

2019-05-13