Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01902:Rbm20'

179553

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Rbm20

Ensembl Gene

ENSMUSG00000043639

Gene Name

RNA binding motif protein 20

Synonyms

2010003H22Rik, 1110018J23Rik

Accession Numbers

Essential gene?

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

Stock #

IGL01902

Quality Score

Status

Chromosome

Chromosomal Location

53665737-53855511 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53829422 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 607 (N607Y)

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: N607Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: N607Y

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 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: N607Y

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: N607Y

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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,147,267 (GRCm39)	S228P	probably damaging	Het
Adamtsl2	A	T	2: 26,977,264 (GRCm39)	I242F	probably damaging	Het
Bicdl1	A	G	5: 115,789,933 (GRCm39)	L284P	probably damaging	Het
Bnc2	A	G	4: 84,309,181 (GRCm39)	I138T	probably damaging	Het
Cep350	A	G	1: 155,737,731 (GRCm39)	L2704S	probably damaging	Het
Col7a1	C	A	9: 108,806,895 (GRCm39)	P2442T	unknown	Het
Cpne6	A	T	14: 55,750,207 (GRCm39)	T113S	possibly damaging	Het
Crnkl1	T	C	2: 145,766,632 (GRCm39)		probably null	Het
Cyp2c67	T	A	19: 39,637,470 (GRCm39)	D2V	probably damaging	Het
Frzb	T	A	2: 80,243,711 (GRCm39)	S323C	probably damaging	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Ins2	C	T	7: 142,233,179 (GRCm39)	C31Y	probably damaging	Het
Lipf	A	T	19: 33,948,179 (GRCm39)	N234Y	probably benign	Het
Mtf1	T	C	4: 124,698,720 (GRCm39)	F73L	probably damaging	Het
Nrxn1	A	G	17: 91,395,919 (GRCm39)		probably null	Het
Pcnx1	A	G	12: 82,025,868 (GRCm39)	T1538A	probably damaging	Het
Polr1a	T	A	6: 71,940,732 (GRCm39)	V47D	probably damaging	Het
Prune2	A	G	19: 17,096,002 (GRCm39)	E502G	probably benign	Het
Ralgapa2	C	T	2: 146,156,934 (GRCm39)	V1886M	probably damaging	Het
Rapgef3	T	A	15: 97,648,181 (GRCm39)	H676L	probably benign	Het
Smc5	G	A	19: 23,237,132 (GRCm39)	T233I	possibly damaging	Het
Snx13	A	T	12: 35,183,306 (GRCm39)		probably null	Het
Suz12	T	A	11: 79,916,776 (GRCm39)	C510S	probably benign	Het
Tab2	A	T	10: 7,795,756 (GRCm39)	M242K	probably benign	Het
Tep1	A	G	14: 51,103,548 (GRCm39)		probably benign	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	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
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
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

Posted On

2014-05-07