Incidental Mutation 'R8518:Rbm20'
| ID |
656280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm20
|
| Ensembl Gene |
ENSMUSG00000043639 |
| Gene Name |
RNA binding motif protein 20 |
| Synonyms |
2010003H22Rik, 1110018J23Rik |
| MMRRC Submission |
067850-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8518 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 53839923 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Aspartic acid
at position 971
(N971D)
|
| 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: N346D
| 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: N971D
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: N971D
| 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: 99.7%
- 20x: 99.2%
|
| 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: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
G |
16: 20,223,398 (GRCm39) |
V170A |
possibly damaging |
Het |
| Adamts2 |
A |
G |
11: 50,666,957 (GRCm39) |
E418G |
probably damaging |
Het |
| Adra2b |
T |
C |
2: 127,206,056 (GRCm39) |
L191P |
probably damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Bag2 |
T |
C |
1: 33,787,358 (GRCm39) |
I55V |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,156,064 (GRCm39) |
L192P |
possibly damaging |
Het |
| Bmpr1b |
T |
C |
3: 141,563,343 (GRCm39) |
I200M |
possibly damaging |
Het |
| Cacna1i |
C |
A |
15: 80,243,095 (GRCm39) |
Y417* |
probably null |
Het |
| Cdc7 |
T |
A |
5: 107,120,864 (GRCm39) |
I162N |
probably damaging |
Het |
| Chchd1 |
T |
C |
14: 20,754,211 (GRCm39) |
I89T |
probably benign |
Het |
| Cxcl16 |
T |
C |
11: 70,346,510 (GRCm39) |
N224S |
probably benign |
Het |
| Dync1i1 |
T |
G |
6: 5,913,330 (GRCm39) |
L188V |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,051,452 (GRCm39) |
V3161A |
probably benign |
Het |
| E2f3 |
T |
A |
13: 30,097,453 (GRCm39) |
K303N |
probably damaging |
Het |
| Fermt1 |
T |
C |
2: 132,748,635 (GRCm39) |
T663A |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,189,390 (GRCm39) |
R611G |
probably damaging |
Het |
| Frem3 |
A |
T |
8: 81,339,224 (GRCm39) |
S506C |
probably damaging |
Het |
| Gm10318 |
T |
A |
10: 77,688,712 (GRCm39) |
M6K |
unknown |
Het |
| Gm6563 |
T |
A |
19: 23,653,480 (GRCm39) |
V90E |
probably damaging |
Het |
| Gpc6 |
T |
C |
14: 117,163,384 (GRCm39) |
S13P |
probably benign |
Het |
| Gpr107 |
C |
A |
2: 31,066,939 (GRCm39) |
H196Q |
probably benign |
Het |
| Heatr1 |
T |
G |
13: 12,425,415 (GRCm39) |
D618E |
probably benign |
Het |
| Lrrc27 |
T |
C |
7: 138,808,690 (GRCm39) |
V391A |
probably benign |
Het |
| Mindy3 |
T |
G |
2: 12,360,154 (GRCm39) |
K349N |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,670 (GRCm39) |
V261A |
probably damaging |
Het |
| Mrpl48 |
G |
A |
7: 100,232,269 (GRCm39) |
|
probably benign |
Het |
| Msantd5f5 |
T |
A |
4: 73,542,641 (GRCm39) |
L47Q |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,430,927 (GRCm39) |
I8062V |
probably benign |
Het |
| Myo7a |
T |
C |
7: 97,740,270 (GRCm39) |
N575D |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,311,261 (GRCm39) |
L370P |
probably damaging |
Het |
| Numbl |
T |
C |
7: 26,964,361 (GRCm39) |
V57A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,804 (GRCm39) |
V44A |
probably damaging |
Het |
| Or5b12 |
G |
A |
19: 12,896,959 (GRCm39) |
T238I |
probably damaging |
Het |
| Or6y1 |
T |
A |
1: 174,276,742 (GRCm39) |
C184* |
probably null |
Het |
| Pdia2 |
A |
T |
17: 26,417,144 (GRCm39) |
L100* |
probably null |
Het |
| Prpf31 |
A |
T |
7: 3,635,742 (GRCm39) |
N105I |
probably damaging |
Het |
| Rnf213 |
T |
A |
11: 119,353,043 (GRCm39) |
M3980K |
|
Het |
| Skint6 |
A |
G |
4: 113,095,465 (GRCm39) |
F65L |
possibly damaging |
Het |
| Smpd4 |
T |
A |
16: 17,458,884 (GRCm39) |
C536S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfpt |
A |
G |
7: 3,632,065 (GRCm39) |
F15S |
possibly damaging |
Het |
| Tnp2 |
A |
G |
16: 10,606,372 (GRCm39) |
C32R |
possibly damaging |
Het |
| Tns3 |
A |
T |
11: 8,442,971 (GRCm39) |
V464E |
probably damaging |
Het |
| Tpp2 |
T |
A |
1: 44,019,545 (GRCm39) |
L824H |
probably damaging |
Het |
| Trav15-1-dv6-1 |
A |
G |
14: 53,797,666 (GRCm39) |
D105G |
probably benign |
Het |
| Ttc3 |
T |
C |
16: 94,258,238 (GRCm39) |
S1679P |
probably benign |
Het |
| Xpo7 |
A |
G |
14: 70,944,837 (GRCm39) |
Y19H |
probably damaging |
Het |
| Zswim4 |
G |
A |
8: 84,938,586 (GRCm39) |
R1099W |
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 |
|
R8366:Rbm20
|
UTSW |
19 |
53,838,612 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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'- TTGGTCACAGTGGACGAAG -3'
(R):5'- AGGACATTTGCTGCACTGC -3'
Sequencing Primer
(F):5'- GCTGGAAGAAATTGTGCCTATTGACC -3'
(R):5'- CAGGGGCCAGACTCACATCTG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation