Incidental Mutation 'R9765:Rbm20'
| ID |
733247 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm20
|
| Ensembl Gene |
ENSMUSG00000043639 |
| Gene Name |
RNA binding motif protein 20 |
| Synonyms |
2010003H22Rik, 1110018J23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9765 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 53840060 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Arginine
at position 1016
(S1016R)
|
| 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: S391R
| 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: S1016R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: S1016R
| 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: 99.9%
- 3x: 99.7%
- 10x: 99.3%
- 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,404,829 (GRCm39) |
V25I |
probably benign |
Het |
| Actr1b |
T |
A |
1: 36,741,677 (GRCm39) |
H65L |
probably benign |
Het |
| Adgrf5 |
G |
A |
17: 43,748,491 (GRCm39) |
G440E |
probably damaging |
Het |
| Ash1l |
T |
A |
3: 88,930,500 (GRCm39) |
D1992E |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,632,809 (GRCm39) |
F81S |
probably damaging |
Het |
| Cdca8 |
A |
G |
4: 124,814,122 (GRCm39) |
I223T |
probably benign |
Het |
| Cdh19 |
A |
G |
1: 110,823,111 (GRCm39) |
|
probably null |
Het |
| Ces2f |
A |
G |
8: 105,676,678 (GRCm39) |
D124G |
probably damaging |
Het |
| Cks1brt |
A |
G |
8: 85,898,234 (GRCm39) |
Y29C |
probably damaging |
Het |
| Cntnap4 |
T |
C |
8: 113,484,110 (GRCm39) |
S388P |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,568,496 (GRCm39) |
I844T |
probably damaging |
Het |
| Col4a3 |
G |
A |
1: 82,646,678 (GRCm39) |
W396* |
probably null |
Het |
| Cul9 |
A |
T |
17: 46,850,224 (GRCm39) |
S449T |
probably benign |
Het |
| Cux2 |
G |
A |
5: 122,007,195 (GRCm39) |
P822L |
probably benign |
Het |
| Cyp3a13 |
G |
C |
5: 137,909,883 (GRCm39) |
P147A |
probably damaging |
Het |
| Dennd2a |
C |
T |
6: 39,473,907 (GRCm39) |
|
probably null |
Het |
| Dgkg |
T |
C |
16: 22,298,157 (GRCm39) |
M743V |
possibly damaging |
Het |
| Dhx35 |
C |
T |
2: 158,671,501 (GRCm39) |
R311W |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,660,049 (GRCm39) |
V273E |
probably damaging |
Het |
| Dock8 |
T |
G |
19: 25,146,832 (GRCm39) |
I1437S |
possibly damaging |
Het |
| Dpy19l3 |
T |
C |
7: 35,408,056 (GRCm39) |
D450G |
probably benign |
Het |
| Dsg4 |
G |
A |
18: 20,604,334 (GRCm39) |
V934I |
probably benign |
Het |
| Eef2 |
T |
A |
10: 81,015,010 (GRCm39) |
F236L |
possibly damaging |
Het |
| Eml4 |
A |
G |
17: 83,747,498 (GRCm39) |
I247V |
probably damaging |
Het |
| Evi5 |
A |
C |
5: 107,947,120 (GRCm39) |
C451G |
probably benign |
Het |
| Fam124a |
T |
G |
14: 62,824,883 (GRCm39) |
W126G |
probably damaging |
Het |
| Fbxw21 |
A |
G |
9: 108,975,625 (GRCm39) |
I257T |
possibly damaging |
Het |
| Fn3krp |
A |
G |
11: 121,312,304 (GRCm39) |
K6E |
probably benign |
Het |
| Gcn1 |
G |
A |
5: 115,735,131 (GRCm39) |
W1149* |
probably null |
Het |
| Glud1 |
C |
T |
14: 34,060,795 (GRCm39) |
R453* |
probably null |
Het |
| Gtf2f1 |
G |
A |
17: 57,318,125 (GRCm39) |
|
probably benign |
Het |
| Gtpbp4 |
T |
A |
13: 9,024,994 (GRCm39) |
D532V |
probably benign |
Het |
| Ifnar2 |
G |
A |
16: 91,184,975 (GRCm39) |
R122H |
possibly damaging |
Het |
| Ift70b |
A |
T |
2: 75,768,467 (GRCm39) |
Y95* |
probably null |
Het |
| Ipo11 |
A |
G |
13: 107,061,556 (GRCm39) |
W35R |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,017,361 (GRCm39) |
R1115Q |
possibly damaging |
Het |
| Kifc5b |
A |
G |
17: 27,142,239 (GRCm39) |
E239G |
probably damaging |
Het |
| Map3k7 |
A |
T |
4: 32,019,519 (GRCm39) |
E553D |
probably damaging |
Het |
| Mdh1 |
G |
T |
11: 21,512,926 (GRCm39) |
S146* |
probably null |
Het |
| Muc16 |
C |
A |
9: 18,548,494 (GRCm39) |
W5933L |
probably benign |
Het |
| Myo16 |
C |
A |
8: 10,620,401 (GRCm39) |
P1651T |
probably damaging |
Het |
| Naip5 |
C |
G |
13: 100,367,269 (GRCm39) |
A276P |
probably damaging |
Het |
| Noxo1 |
G |
T |
17: 24,915,386 (GRCm39) |
|
probably benign |
Het |
| Or4k49 |
T |
A |
2: 111,495,230 (GRCm39) |
Y220N |
probably benign |
Het |
| Pcdhgb6 |
A |
T |
18: 37,876,054 (GRCm39) |
N254I |
possibly damaging |
Het |
| Peli3 |
A |
T |
19: 4,991,850 (GRCm39) |
C30* |
probably null |
Het |
| Plb1 |
T |
A |
5: 32,512,731 (GRCm39) |
M1363K |
probably damaging |
Het |
| Ppp4r4 |
G |
T |
12: 103,550,346 (GRCm39) |
E257* |
probably null |
Het |
| Rcn1 |
A |
T |
2: 105,225,026 (GRCm39) |
L143Q |
possibly damaging |
Het |
| Retreg1 |
G |
A |
15: 25,940,985 (GRCm39) |
G3D |
unknown |
Het |
| Rrm2 |
A |
G |
12: 24,758,956 (GRCm39) |
N65D |
probably benign |
Het |
| Samhd1 |
G |
T |
2: 156,965,219 (GRCm39) |
H199N |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,114,969 (GRCm39) |
L400* |
probably null |
Het |
| Slc26a7 |
A |
T |
4: 14,522,862 (GRCm39) |
M486K |
probably benign |
Het |
| Slc30a4 |
A |
T |
2: 122,536,456 (GRCm39) |
Y133N |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,601,945 (GRCm39) |
F1439Y |
unknown |
Het |
| Srpra |
T |
C |
9: 35,122,670 (GRCm39) |
V29A |
possibly damaging |
Het |
| St3gal1 |
T |
C |
15: 66,981,499 (GRCm39) |
T226A |
possibly damaging |
Het |
| Tas2r136 |
T |
A |
6: 132,754,813 (GRCm39) |
I105F |
probably benign |
Het |
| Tmem208 |
A |
G |
8: 106,061,506 (GRCm39) |
*177W |
probably null |
Het |
| Utrn |
T |
A |
10: 12,610,921 (GRCm39) |
N478I |
probably damaging |
Het |
| Zbtb37 |
T |
C |
1: 160,859,432 (GRCm39) |
Y291C |
probably damaging |
Het |
| Zc3h3 |
T |
G |
15: 75,709,459 (GRCm39) |
H470P |
probably benign |
Het |
| Zfp40 |
A |
T |
17: 23,395,863 (GRCm39) |
Y241* |
probably null |
Het |
| Zfp457 |
T |
C |
13: 67,440,874 (GRCm39) |
N567S |
probably benign |
Het |
| Zfp458 |
C |
T |
13: 67,408,217 (GRCm39) |
V33M |
probably damaging |
Het |
| Zfp953 |
A |
T |
13: 67,491,478 (GRCm39) |
I158N |
possibly 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 |
|
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 |
|
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'- ACAAGTGCCGTCTACTTCCG -3'
(R):5'- CACATACCCACATGTCCTGAGG -3'
Sequencing Primer
(F):5'- TCCGCAAGCTGTCCCAATG -3'
(R):5'- ACACCTCGGCAAGCCTG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation