Incidental Mutation 'R8366:Rbm20'
ID |
646198 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm20
|
Ensembl Gene |
ENSMUSG00000043639 |
Gene Name |
RNA binding motif protein 20 |
Synonyms |
2010003H22Rik, 1110018J23Rik |
MMRRC Submission |
067737-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R8366 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 53838612 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 863
(T863I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000164202]
|
AlphaFold |
Q3UQS8 |
Predicted Effect |
|
SMART Domains |
Protein: ENSMUSP00000124363 Gene: ENSMUSG00000043639 AA Change: T238I
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 |
possibly damaging
Transcript: ENSMUST00000164202
AA Change: T863I
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000129447 Gene: ENSMUSG00000043639 AA Change: T863I
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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933427D14Rik |
G |
A |
11: 72,067,521 (GRCm39) |
Q590* |
probably null |
Het |
Adnp2 |
T |
C |
18: 80,173,725 (GRCm39) |
D228G |
probably damaging |
Het |
Adrb2 |
T |
A |
18: 62,311,775 (GRCm39) |
Y350F |
probably benign |
Het |
Agbl4 |
T |
C |
4: 111,423,861 (GRCm39) |
S296P |
probably damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ampd1 |
A |
T |
3: 102,995,810 (GRCm39) |
D240V |
probably damaging |
Het |
Armh3 |
T |
C |
19: 45,920,793 (GRCm39) |
Y468C |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,419,707 (GRCm39) |
S838G |
probably benign |
Het |
Cdh23 |
A |
G |
10: 60,160,799 (GRCm39) |
F2056L |
probably benign |
Het |
Cyp4x1 |
A |
T |
4: 114,970,063 (GRCm39) |
S381T |
probably benign |
Het |
Ddx20 |
A |
G |
3: 105,594,695 (GRCm39) |
S17P |
probably benign |
Het |
Dlgap4 |
C |
A |
2: 156,542,694 (GRCm39) |
Y32* |
probably null |
Het |
Dmbt1 |
T |
C |
7: 130,668,330 (GRCm39) |
F529L |
unknown |
Het |
Ei24 |
A |
G |
9: 36,697,800 (GRCm39) |
S117P |
possibly damaging |
Het |
Esyt1 |
T |
G |
10: 128,352,422 (GRCm39) |
N730H |
possibly damaging |
Het |
Gcfc2 |
A |
G |
6: 81,900,782 (GRCm39) |
E32G |
probably benign |
Het |
Lama1 |
T |
C |
17: 68,125,699 (GRCm39) |
I2952T |
|
Het |
Mkrn3 |
A |
T |
7: 62,069,543 (GRCm39) |
S83T |
probably benign |
Het |
Ncoa2 |
T |
A |
1: 13,250,830 (GRCm39) |
D284V |
probably damaging |
Het |
Or10w1 |
A |
G |
19: 13,631,903 (GRCm39) |
S37G |
probably damaging |
Het |
Osmr |
T |
A |
15: 6,850,435 (GRCm39) |
T724S |
possibly damaging |
Het |
Pex1 |
A |
G |
5: 3,676,007 (GRCm39) |
E825G |
probably benign |
Het |
Ranbp6 |
A |
G |
19: 29,789,299 (GRCm39) |
L351P |
probably damaging |
Het |
Rcbtb2 |
T |
C |
14: 73,444,632 (GRCm39) |
S506P |
probably benign |
Het |
Rdh12 |
T |
A |
12: 79,258,288 (GRCm39) |
I105N |
probably damaging |
Het |
Ror1 |
A |
G |
4: 100,267,195 (GRCm39) |
I299V |
possibly damaging |
Het |
Rpap3 |
C |
T |
15: 97,579,548 (GRCm39) |
R488K |
probably benign |
Het |
Rps6kb1 |
A |
C |
11: 86,402,655 (GRCm39) |
V346G |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,377,816 (GRCm39) |
S544P |
probably damaging |
Het |
Sis |
A |
T |
3: 72,865,566 (GRCm39) |
V162E |
probably damaging |
Het |
Slc16a10 |
A |
G |
10: 39,952,867 (GRCm39) |
V209A |
probably benign |
Het |
Srsf12 |
C |
G |
4: 33,226,070 (GRCm39) |
P111R |
probably damaging |
Het |
Teddm2 |
G |
T |
1: 153,726,575 (GRCm39) |
H47N |
probably damaging |
Het |
Tmem74 |
C |
T |
15: 43,730,315 (GRCm39) |
G243R |
probably damaging |
Het |
Trmt10c |
C |
T |
16: 55,854,426 (GRCm39) |
R403Q |
probably benign |
Het |
Vps11 |
A |
T |
9: 44,267,052 (GRCm39) |
Y394* |
probably null |
Het |
Zscan10 |
G |
T |
17: 23,828,952 (GRCm39) |
R498L |
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 |
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 |
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'- GAGCATGTTTCTTTCTGAGCC -3'
(R):5'- CCACAGAGCTGTTTCTCCAGAG -3'
Sequencing Primer
(F):5'- TCTGAGCCTCAGTTCCCGAAG -3'
(R):5'- AGAGCTGTTTCTCCAGAGAGCAC -3'
|
Posted On |
2020-09-02 |