Incidental Mutation 'IGL01942:Rbm20'
| ID |
180870 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01942
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53801874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 127
(M127I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095969]
[ENSMUST00000164202]
|
| AlphaFold |
Q3UQS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095969
AA Change: M127I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: M127I
| 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 damaging
Transcript: ENSMUST00000164202
AA Change: M127I
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: M127I
| 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 |
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
G |
A |
7: 45,635,997 (GRCm39) |
R1017W |
possibly damaging |
Het |
| Arhgef26 |
A |
G |
3: 62,247,515 (GRCm39) |
R200G |
probably benign |
Het |
| Arid4b |
A |
T |
13: 14,310,749 (GRCm39) |
|
probably benign |
Het |
| Atp1a2 |
A |
C |
1: 172,113,876 (GRCm39) |
S369A |
probably benign |
Het |
| Bag3 |
T |
A |
7: 128,148,024 (GRCm39) |
D546E |
probably benign |
Het |
| Bcl6b |
T |
A |
11: 70,117,569 (GRCm39) |
Y379F |
probably damaging |
Het |
| Cbln2 |
T |
C |
18: 86,734,450 (GRCm39) |
V136A |
probably benign |
Het |
| Ccnf |
A |
T |
17: 24,461,294 (GRCm39) |
D120E |
probably benign |
Het |
| Cd14 |
T |
A |
18: 36,858,693 (GRCm39) |
H254L |
possibly damaging |
Het |
| Chd3 |
A |
G |
11: 69,240,931 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,692 (GRCm39) |
R150H |
probably benign |
Het |
| Dhx35 |
T |
C |
2: 158,673,784 (GRCm39) |
L405P |
probably damaging |
Het |
| Dpf1 |
G |
A |
7: 29,015,927 (GRCm39) |
C383Y |
probably damaging |
Het |
| Dse |
T |
A |
10: 34,031,989 (GRCm39) |
Q345L |
probably benign |
Het |
| Gnaz |
A |
G |
10: 74,850,706 (GRCm39) |
M244V |
probably damaging |
Het |
| Gpr65 |
A |
T |
12: 98,241,974 (GRCm39) |
Y209F |
possibly damaging |
Het |
| Inpp5f |
T |
C |
7: 128,269,493 (GRCm39) |
I281T |
probably damaging |
Het |
| Kntc1 |
T |
C |
5: 123,916,330 (GRCm39) |
F721S |
probably damaging |
Het |
| Mapk8ip2 |
G |
A |
15: 89,341,220 (GRCm39) |
|
probably null |
Het |
| Med24 |
G |
A |
11: 98,600,508 (GRCm39) |
R646W |
probably damaging |
Het |
| Nup98 |
A |
T |
7: 101,843,918 (GRCm39) |
F102Y |
probably damaging |
Het |
| Or1n2 |
A |
G |
2: 36,797,869 (GRCm39) |
M304V |
probably benign |
Het |
| Or4c35 |
G |
T |
2: 89,808,322 (GRCm39) |
V67L |
probably benign |
Het |
| Or8g50 |
A |
T |
9: 39,648,962 (GRCm39) |
M284L |
possibly damaging |
Het |
| Pgap3 |
T |
C |
11: 98,288,780 (GRCm39) |
Y125C |
probably damaging |
Het |
| Rasl12 |
T |
C |
9: 65,315,644 (GRCm39) |
V96A |
probably damaging |
Het |
| Rnf114 |
T |
A |
2: 167,354,546 (GRCm39) |
|
probably null |
Het |
| Serpinb1b |
C |
T |
13: 33,269,294 (GRCm39) |
T9I |
possibly damaging |
Het |
| Setd1b |
T |
A |
5: 123,301,489 (GRCm39) |
F16I |
possibly damaging |
Het |
| Slc25a28 |
A |
G |
19: 43,652,947 (GRCm39) |
F238S |
probably damaging |
Het |
| Slc2a2 |
T |
C |
3: 28,759,952 (GRCm39) |
V30A |
probably damaging |
Het |
| Slc35f4 |
T |
C |
14: 49,762,962 (GRCm39) |
|
probably benign |
Het |
| Socs4 |
T |
A |
14: 47,528,107 (GRCm39) |
C347* |
probably null |
Het |
| Spock1 |
C |
T |
13: 57,578,141 (GRCm39) |
E367K |
probably damaging |
Het |
| Ubap2 |
C |
T |
4: 41,251,608 (GRCm39) |
R8H |
probably benign |
Het |
| Vmn1r44 |
T |
A |
6: 89,870,806 (GRCm39) |
M41K |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp575 |
T |
C |
7: 24,285,240 (GRCm39) |
T134A |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation