Incidental Mutation 'R8100:Rbm20'
ID |
630487 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm20
|
Ensembl Gene |
ENSMUSG00000043639 |
Gene Name |
RNA binding motif protein 20 |
Synonyms |
2010003H22Rik, 1110018J23Rik |
MMRRC Submission |
067532-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.143)
|
Stock # |
R8100 (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 53839744 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Serine
at position 911
(I911S)
|
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: I286S
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: I911S
PolyPhen 2
Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000129447 Gene: ENSMUSG00000043639 AA Change: I911S
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: 99.8%
- 10x: 99.4%
- 20x: 98.4%
|
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: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy4 |
G |
A |
14: 56,009,722 (GRCm39) |
Q777* |
probably null |
Het |
Art1 |
T |
C |
7: 101,756,405 (GRCm39) |
S199P |
probably damaging |
Het |
Cadps2 |
A |
T |
6: 23,838,808 (GRCm39) |
M110K |
probably damaging |
Het |
Cdk13 |
C |
T |
13: 17,978,101 (GRCm39) |
R379Q |
unknown |
Het |
Cdk7 |
T |
C |
13: 100,842,925 (GRCm39) |
I272V |
probably benign |
Het |
Cep350 |
T |
C |
1: 155,829,148 (GRCm39) |
D192G |
probably damaging |
Het |
Chrna6 |
C |
T |
8: 27,903,844 (GRCm39) |
|
probably benign |
Het |
Ciart |
G |
A |
3: 95,788,656 (GRCm39) |
P61L |
probably damaging |
Het |
Ckmt1 |
T |
A |
2: 121,191,258 (GRCm39) |
D223E |
probably benign |
Het |
Col6a5 |
C |
T |
9: 105,755,839 (GRCm39) |
R2195H |
probably damaging |
Het |
D430041D05Rik |
C |
T |
2: 104,087,287 (GRCm39) |
R563H |
probably benign |
Het |
Defa29 |
A |
T |
8: 21,816,990 (GRCm39) |
M1K |
probably null |
Het |
Dnah11 |
A |
G |
12: 117,930,368 (GRCm39) |
S3326P |
probably damaging |
Het |
Dsg3 |
A |
G |
18: 20,662,028 (GRCm39) |
D431G |
probably benign |
Het |
Ell3 |
TCTCCTC |
TCTC |
2: 121,269,937 (GRCm39) |
|
probably benign |
Het |
Fbln1 |
T |
A |
15: 85,169,357 (GRCm39) |
F699I |
probably damaging |
Het |
Fndc1 |
A |
G |
17: 7,990,685 (GRCm39) |
S1004P |
unknown |
Het |
Gpr15 |
T |
A |
16: 58,538,076 (GRCm39) |
T338S |
probably benign |
Het |
Grin2d |
T |
C |
7: 45,483,171 (GRCm39) |
Y1002C |
unknown |
Het |
Hk2 |
C |
T |
6: 82,707,859 (GRCm39) |
M703I |
probably benign |
Het |
Ifi213 |
A |
C |
1: 173,422,748 (GRCm39) |
L39R |
probably damaging |
Het |
Kctd17 |
CAGCTGGAGGAGC |
CAGC |
15: 78,321,113 (GRCm39) |
|
probably benign |
Het |
Lama2 |
C |
A |
10: 26,917,113 (GRCm39) |
A2271S |
probably benign |
Het |
Lmo7 |
A |
T |
14: 102,137,899 (GRCm39) |
Q867L |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,492,512 (GRCm39) |
S1427T |
possibly damaging |
Het |
Lzts1 |
A |
G |
8: 69,593,397 (GRCm39) |
V70A |
probably damaging |
Het |
Mocs3 |
A |
G |
2: 168,073,257 (GRCm39) |
T235A |
possibly damaging |
Het |
Myo15a |
G |
A |
11: 60,408,016 (GRCm39) |
R3168H |
probably damaging |
Het |
Ndc1 |
A |
G |
4: 107,240,802 (GRCm39) |
D260G |
possibly damaging |
Het |
Nfam1 |
T |
C |
15: 82,900,730 (GRCm39) |
D44G |
probably damaging |
Het |
Or4a47 |
G |
A |
2: 89,666,029 (GRCm39) |
Q87* |
probably null |
Het |
Osbpl10 |
G |
A |
9: 114,996,322 (GRCm39) |
R128H |
probably benign |
Het |
Otx1 |
C |
A |
11: 21,949,392 (GRCm39) |
V29L |
probably benign |
Het |
Pogk |
A |
T |
1: 166,229,511 (GRCm39) |
D113E |
possibly damaging |
Het |
Ptgs2 |
T |
C |
1: 149,978,472 (GRCm39) |
F195L |
probably damaging |
Het |
Ptpn21 |
T |
A |
12: 98,648,881 (GRCm39) |
E925V |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,326,470 (GRCm39) |
F2714L |
possibly damaging |
Het |
Rwdd2b |
A |
G |
16: 87,233,509 (GRCm39) |
V197A |
possibly damaging |
Het |
Sel1l2 |
C |
G |
2: 140,117,329 (GRCm39) |
A181P |
probably damaging |
Het |
Sf1 |
A |
G |
19: 6,422,368 (GRCm39) |
E234G |
possibly damaging |
Het |
Skint2 |
A |
C |
4: 112,483,197 (GRCm39) |
T201P |
probably damaging |
Het |
Sra1 |
C |
T |
18: 36,809,948 (GRCm39) |
R199H |
probably damaging |
Het |
Svs5 |
A |
G |
2: 164,079,712 (GRCm39) |
M65T |
probably benign |
Het |
Tgif1 |
C |
A |
17: 71,153,544 (GRCm39) |
|
probably benign |
Het |
Tmem184c |
A |
G |
8: 78,331,411 (GRCm39) |
W113R |
possibly damaging |
Het |
Tmem30a |
T |
C |
9: 79,681,432 (GRCm39) |
R282G |
probably benign |
Het |
Top1 |
T |
A |
2: 160,540,155 (GRCm39) |
Y244* |
probably null |
Het |
Trank1 |
A |
G |
9: 111,221,861 (GRCm39) |
Y2866C |
probably damaging |
Het |
Trim7 |
A |
C |
11: 48,740,346 (GRCm39) |
I148L |
probably damaging |
Het |
Triml1 |
T |
A |
8: 43,591,717 (GRCm39) |
M214L |
probably benign |
Het |
Usp30 |
T |
G |
5: 114,249,245 (GRCm39) |
V183G |
probably damaging |
Het |
Vmn1r175 |
G |
A |
7: 23,508,012 (GRCm39) |
S205F |
probably damaging |
Het |
Zbtb32 |
CTTG |
CTTGTTG |
7: 30,290,946 (GRCm39) |
|
probably benign |
Het |
Zfp108 |
T |
A |
7: 23,960,602 (GRCm39) |
C398S |
probably damaging |
Het |
Zfp592 |
T |
G |
7: 80,673,940 (GRCm39) |
D301E |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
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'- GCTGACGTTTGAGTATTCTAAGCC -3'
(R):5'- ATTTAGGCCAGGCATCTCCAG -3'
Sequencing Primer
(F):5'- TGAGTATTCTAAGCCACCATATGAC -3'
(R):5'- ATCTCCAGGTCCGTGTCATTGG -3'
|
Posted On |
2020-06-30 |