Incidental Mutation 'R3947:Rbm20'
ID |
307770 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm20
|
Ensembl Gene |
ENSMUSG00000043639 |
Gene Name |
RNA binding motif protein 20 |
Synonyms |
2010003H22Rik, 1110018J23Rik |
MMRRC Submission |
040927-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R3947 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 53801768 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 92
(I92T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000129447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095969]
[ENSMUST00000164202]
|
AlphaFold |
Q3UQS8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000095969
AA Change: I92T
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000093665 Gene: ENSMUSG00000043639 AA Change: I92T
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 |
noncoding transcript
Transcript: ENSMUST00000162910
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164202
AA Change: I92T
PolyPhen 2
Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000129447 Gene: ENSMUSG00000043639 AA Change: I92T
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 |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
97% (32/33) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
A |
14: 54,916,790 (GRCm39) |
Q133L |
possibly damaging |
Het |
Adgrg4 |
C |
T |
X: 55,963,114 (GRCm39) |
T1561I |
probably benign |
Het |
Avl9 |
T |
C |
6: 56,705,650 (GRCm39) |
|
probably null |
Het |
C87436 |
T |
A |
6: 86,423,168 (GRCm39) |
H247Q |
probably damaging |
Het |
Cfap43 |
G |
T |
19: 47,754,418 (GRCm39) |
H969N |
probably benign |
Het |
Chst15 |
T |
A |
7: 131,849,604 (GRCm39) |
N446Y |
probably damaging |
Het |
Col4a3 |
T |
A |
1: 82,693,053 (GRCm39) |
I1446N |
probably damaging |
Het |
Disc1 |
A |
G |
8: 125,814,874 (GRCm39) |
E246G |
probably damaging |
Het |
Dyrk4 |
A |
G |
6: 126,862,268 (GRCm39) |
I408T |
probably damaging |
Het |
Fnbp1l |
G |
T |
3: 122,338,228 (GRCm39) |
A481D |
possibly damaging |
Het |
Gm10608 |
TACACACACACACACACACACACACACACACACACACACACACACACACACACACA |
TACACACACACACACACACACACACACACACACACACACACACACACACA |
9: 118,989,730 (GRCm39) |
|
probably benign |
Het |
Grk2 |
G |
A |
19: 4,342,445 (GRCm39) |
T129M |
possibly damaging |
Het |
Ino80d |
G |
T |
1: 63,113,662 (GRCm39) |
Q263K |
probably benign |
Het |
Iqsec3 |
A |
T |
6: 121,364,783 (GRCm39) |
Y835* |
probably null |
Het |
Irak3 |
T |
A |
10: 120,006,278 (GRCm39) |
M213L |
probably benign |
Het |
Macf1 |
T |
C |
4: 123,274,213 (GRCm39) |
R6388G |
probably damaging |
Het |
Mtnr1a |
T |
C |
8: 45,540,557 (GRCm39) |
Y173H |
probably damaging |
Het |
Myo5b |
C |
T |
18: 74,828,474 (GRCm39) |
R709W |
probably damaging |
Het |
Nebl |
A |
T |
2: 17,382,917 (GRCm39) |
|
probably null |
Het |
Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
Or2g1 |
A |
T |
17: 38,107,006 (GRCm39) |
I224L |
probably benign |
Het |
Pex11g |
G |
A |
8: 3,515,787 (GRCm39) |
T82I |
probably benign |
Het |
Pgr |
A |
G |
9: 8,961,453 (GRCm39) |
I842V |
probably benign |
Het |
Pkd1 |
T |
A |
17: 24,797,011 (GRCm39) |
|
probably benign |
Het |
Ryr3 |
C |
G |
2: 112,506,218 (GRCm39) |
R3443P |
probably damaging |
Het |
Ssh2 |
A |
G |
11: 77,289,082 (GRCm39) |
D88G |
probably damaging |
Het |
Suclg2 |
G |
T |
6: 95,556,219 (GRCm39) |
|
probably null |
Het |
Tdrd3 |
A |
T |
14: 87,744,035 (GRCm39) |
D655V |
probably damaging |
Het |
Tex2 |
C |
T |
11: 106,410,829 (GRCm39) |
D896N |
unknown |
Het |
Tmem168 |
C |
A |
6: 13,583,051 (GRCm39) |
R610L |
probably damaging |
Het |
Ttc17 |
A |
G |
2: 94,206,491 (GRCm39) |
|
probably benign |
Het |
Vmn2r99 |
T |
C |
17: 19,599,252 (GRCm39) |
M312T |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,017,902 (GRCm39) |
E2546G |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACCTATGAGGCAGGGTCTTG -3'
(R):5'- CGAAAAGGCGATTGCGGTTG -3'
Sequencing Primer
(F):5'- CCTATGAGGCAGGGTCTTGTTGAC -3'
(R):5'- AACCGAGGCAGCATGCTG -3'
|
Posted On |
2015-04-17 |