Incidental Mutation 'BB011:Rbm20'
ID |
642679 |
Institutional Source |
Beutler Lab
|
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: 0.143)
|
Stock # |
BB011
|
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 T
at 53666016 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 60
(I60F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000093665
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095969]
[ENSMUST00000164202]
|
AlphaFold |
Q3UQS8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000095969
AA Change: I60F
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000093665 Gene: ENSMUSG00000043639 AA Change: I60F
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 |
possibly damaging
Transcript: ENSMUST00000164202
AA Change: I60F
PolyPhen 2
Score 0.625 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000129447 Gene: ENSMUSG00000043639 AA Change: I60F
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: 98.8%
|
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: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
G |
5: 114,383,281 (GRCm39) |
K2155E |
possibly damaging |
Het |
Adgre5 |
G |
A |
8: 84,456,029 (GRCm39) |
P256S |
possibly damaging |
Het |
Adipor1 |
T |
A |
1: 134,353,731 (GRCm39) |
V172D |
probably damaging |
Het |
Ahsa1 |
T |
C |
12: 87,317,230 (GRCm39) |
|
probably null |
Het |
Ankrd11 |
T |
C |
8: 123,622,641 (GRCm39) |
I404V |
possibly damaging |
Het |
Asxl3 |
G |
A |
18: 22,658,602 (GRCm39) |
R2204Q |
probably damaging |
Het |
Barhl2 |
A |
G |
5: 106,605,515 (GRCm39) |
S65P |
unknown |
Het |
Bbx |
A |
T |
16: 50,044,671 (GRCm39) |
L630H |
probably damaging |
Het |
Cars1 |
T |
C |
7: 143,123,608 (GRCm39) |
T531A |
possibly damaging |
Het |
Catsperb |
T |
A |
12: 101,486,824 (GRCm39) |
H450Q |
probably benign |
Het |
Cdt1 |
T |
C |
8: 123,296,091 (GRCm39) |
L135P |
probably damaging |
Het |
Cfap206 |
T |
A |
4: 34,728,833 (GRCm39) |
H24L |
probably benign |
Het |
Cilk1 |
T |
C |
9: 78,062,746 (GRCm39) |
L260P |
probably damaging |
Het |
Cnga4 |
T |
A |
7: 105,057,028 (GRCm39) |
V480E |
probably benign |
Het |
Cnot1 |
ACG |
A |
8: 96,472,275 (GRCm39) |
|
probably null |
Het |
Ctcfl |
G |
A |
2: 172,955,449 (GRCm39) |
T271I |
possibly damaging |
Het |
Dlc1 |
T |
C |
8: 37,038,570 (GRCm39) |
R1003G |
probably benign |
Het |
Dnah7b |
A |
G |
1: 46,258,590 (GRCm39) |
D1927G |
probably benign |
Het |
Dscc1 |
A |
T |
15: 54,945,572 (GRCm39) |
D374E |
probably benign |
Het |
Eci2 |
G |
A |
13: 35,177,053 (GRCm39) |
Q69* |
probably null |
Het |
Ep300 |
C |
A |
15: 81,533,703 (GRCm39) |
P1920Q |
unknown |
Het |
Epha5 |
A |
G |
5: 84,232,705 (GRCm39) |
Y629H |
possibly damaging |
Het |
Fat2 |
G |
A |
11: 55,153,613 (GRCm39) |
T3533I |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,910,593 (GRCm39) |
N1803S |
probably damaging |
Het |
Fcrl2 |
T |
C |
3: 87,166,840 (GRCm39) |
Y51C |
probably damaging |
Het |
G530012D18Rik |
C |
G |
1: 85,504,935 (GRCm39) |
D113E |
unknown |
Het |
Gcnt2 |
A |
T |
13: 41,072,040 (GRCm39) |
K228* |
probably null |
Het |
Gucy2c |
A |
T |
6: 136,740,053 (GRCm39) |
V258E |
probably benign |
Het |
Hecw1 |
C |
A |
13: 14,497,113 (GRCm39) |
L298F |
probably damaging |
Het |
Hydin |
T |
G |
8: 111,145,103 (GRCm39) |
V818G |
possibly damaging |
Het |
Hykk |
A |
G |
9: 54,829,524 (GRCm39) |
Y131C |
probably damaging |
Het |
Mpo |
A |
G |
11: 87,685,666 (GRCm39) |
D48G |
probably damaging |
Het |
Mrps10 |
T |
C |
17: 47,689,208 (GRCm39) |
*202Q |
probably null |
Het |
Mrps14 |
T |
C |
1: 160,024,559 (GRCm39) |
V30A |
probably benign |
Het |
Mtmr7 |
G |
A |
8: 41,059,927 (GRCm39) |
A62V |
possibly damaging |
Het |
Muc2 |
G |
T |
7: 141,281,631 (GRCm39) |
G497W |
probably damaging |
Het |
Nnt |
A |
T |
13: 119,523,181 (GRCm39) |
V237D |
probably damaging |
Het |
Nox4 |
G |
T |
7: 87,023,589 (GRCm39) |
V492L |
probably benign |
Het |
Obscn |
C |
G |
11: 59,003,381 (GRCm39) |
E1306Q |
probably benign |
Het |
Or5ak23 |
T |
C |
2: 85,244,563 (GRCm39) |
Y220C |
probably benign |
Het |
Or6aa1 |
A |
G |
7: 86,043,938 (GRCm39) |
I256T |
probably damaging |
Het |
Pard3 |
A |
G |
8: 128,137,231 (GRCm39) |
N861S |
probably benign |
Het |
Pdlim4 |
G |
A |
11: 53,946,048 (GRCm39) |
R230* |
probably null |
Het |
Pinlyp |
C |
T |
7: 24,241,550 (GRCm39) |
V159M |
possibly damaging |
Het |
Plcb1 |
A |
T |
2: 135,201,613 (GRCm39) |
T855S |
probably benign |
Het |
Pot1a |
T |
A |
6: 25,753,309 (GRCm39) |
D409V |
possibly damaging |
Het |
Prom1 |
T |
C |
5: 44,187,111 (GRCm39) |
D382G |
probably benign |
Het |
Prss16 |
A |
T |
13: 22,192,834 (GRCm39) |
N83K |
probably damaging |
Het |
Ptprn2 |
A |
G |
12: 116,804,884 (GRCm39) |
D133G |
probably benign |
Het |
Rasef |
C |
T |
4: 73,659,166 (GRCm39) |
|
probably null |
Het |
Rbak |
A |
G |
5: 143,160,241 (GRCm39) |
S271P |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rsf1 |
G |
GACGGCCGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpinb3c |
A |
G |
1: 107,200,904 (GRCm39) |
L171P |
probably damaging |
Het |
Slc25a19 |
T |
C |
11: 115,506,376 (GRCm39) |
Y211C |
unknown |
Het |
Sorbs2 |
C |
T |
8: 46,248,507 (GRCm39) |
S586L |
probably damaging |
Het |
Spesp1 |
A |
T |
9: 62,180,733 (GRCm39) |
S58R |
probably benign |
Het |
Spryd3 |
A |
G |
15: 102,026,762 (GRCm39) |
I329T |
probably benign |
Het |
St8sia2 |
G |
A |
7: 73,616,700 (GRCm39) |
L113F |
probably damaging |
Het |
Star |
T |
C |
8: 26,299,883 (GRCm39) |
I75T |
possibly damaging |
Het |
Tasor2 |
A |
T |
13: 3,644,331 (GRCm39) |
F129Y |
possibly damaging |
Het |
Tdrd6 |
T |
A |
17: 43,938,697 (GRCm39) |
I784F |
possibly damaging |
Het |
Tex55 |
G |
A |
16: 38,632,826 (GRCm39) |
Q369* |
probably null |
Het |
Tsc22d4 |
A |
G |
5: 137,766,273 (GRCm39) |
I144V |
unknown |
Het |
Tspan8 |
T |
C |
10: 115,669,229 (GRCm39) |
|
probably null |
Het |
Ttll9 |
C |
T |
2: 152,804,407 (GRCm39) |
|
probably benign |
Het |
Ubr4 |
T |
G |
4: 139,194,587 (GRCm39) |
L1160R |
unknown |
Het |
Ufd1 |
A |
G |
16: 18,642,035 (GRCm39) |
Y162C |
possibly damaging |
Het |
Unc13c |
A |
T |
9: 73,641,690 (GRCm39) |
F1268I |
probably benign |
Het |
Uvssa |
T |
C |
5: 33,568,295 (GRCm39) |
I561T |
probably damaging |
Het |
Vmn2r15 |
A |
T |
5: 109,434,254 (GRCm39) |
S817T |
probably damaging |
Het |
Ybx1 |
T |
C |
4: 119,139,476 (GRCm39) |
E173G |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,400 (GRCm39) |
S640P |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCAGTGAGCGCTTGTGTTC -3'
(R):5'- GACTGCGTTCTACCCAATATCAC -3'
Sequencing Primer
(F):5'- TTGTGTTCCGGGACCGC -3'
(R):5'- GCGTTCTACCCAATATCACCAACAAG -3'
|
Posted On |
2020-08-01 |