Incidental Mutation 'IGL02964:Rbm20'
| ID |
365497 |
| 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 # |
IGL02964
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 53802133 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Isoleucine
at position 214
(L214I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000093665
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095969]
[ENSMUST00000164202]
|
| AlphaFold |
Q3UQS8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000095969
AA Change: L214I
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: L214I
| 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: L214I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: L214I
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc3 |
T |
C |
11: 94,242,636 (GRCm39) |
I1364V |
possibly damaging |
Het |
| Adamts19 |
T |
A |
18: 59,122,037 (GRCm39) |
I813K |
probably damaging |
Het |
| Adamtsl1 |
G |
T |
4: 86,342,594 (GRCm39) |
C1703F |
probably damaging |
Het |
| Atp2b4 |
T |
A |
1: 133,658,303 (GRCm39) |
T536S |
probably damaging |
Het |
| Capg |
T |
A |
6: 72,539,827 (GRCm39) |
I340N |
probably damaging |
Het |
| Casc3 |
T |
A |
11: 98,719,749 (GRCm39) |
M567K |
probably damaging |
Het |
| Chmp1a |
T |
C |
8: 123,934,806 (GRCm39) |
E50G |
probably damaging |
Het |
| Cryba1 |
T |
C |
11: 77,610,207 (GRCm39) |
|
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,965,735 (GRCm39) |
Y2356N |
probably damaging |
Het |
| Ercc6 |
T |
G |
14: 32,292,060 (GRCm39) |
S1141R |
probably benign |
Het |
| Exd2 |
T |
A |
12: 80,527,302 (GRCm39) |
V165D |
probably damaging |
Het |
| Fbln1 |
A |
T |
15: 85,115,663 (GRCm39) |
E233V |
probably damaging |
Het |
| Ftsj3 |
T |
C |
11: 106,143,163 (GRCm39) |
K384E |
probably damaging |
Het |
| Ggt5 |
A |
G |
10: 75,439,962 (GRCm39) |
I188V |
probably benign |
Het |
| Gm42742 |
A |
T |
7: 126,616,018 (GRCm39) |
S26T |
probably damaging |
Het |
| Gucy1a2 |
T |
A |
9: 3,759,542 (GRCm39) |
D449E |
probably damaging |
Het |
| Igfbp7 |
C |
T |
5: 77,499,188 (GRCm39) |
S239N |
possibly damaging |
Het |
| Klf11 |
C |
T |
12: 24,705,626 (GRCm39) |
A360V |
probably damaging |
Het |
| Kmt2e |
T |
A |
5: 23,672,098 (GRCm39) |
|
probably benign |
Het |
| Magea8 |
A |
T |
X: 153,769,678 (GRCm39) |
C144S |
probably damaging |
Het |
| Med4 |
A |
G |
14: 73,755,361 (GRCm39) |
Q223R |
probably damaging |
Het |
| Mmd2 |
G |
T |
5: 142,555,232 (GRCm39) |
F153L |
probably damaging |
Het |
| Nav3 |
C |
A |
10: 109,572,814 (GRCm39) |
R1615L |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,902,769 (GRCm39) |
|
probably benign |
Het |
| Nr1i3 |
A |
T |
1: 171,041,964 (GRCm39) |
Y16F |
probably benign |
Het |
| Or5w1 |
C |
A |
2: 87,487,058 (GRCm39) |
C69F |
probably damaging |
Het |
| Or7e169 |
G |
A |
9: 19,757,550 (GRCm39) |
R122* |
probably null |
Het |
| Or7g16 |
A |
G |
9: 18,727,024 (GRCm39) |
C189R |
probably damaging |
Het |
| Or8g34 |
A |
G |
9: 39,373,077 (GRCm39) |
T117A |
possibly damaging |
Het |
| Ppil6 |
C |
A |
10: 41,383,479 (GRCm39) |
H252N |
probably benign |
Het |
| Ppp6r2 |
C |
T |
15: 89,143,378 (GRCm39) |
P175L |
probably damaging |
Het |
| Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
| Rhox2f |
T |
C |
X: 36,753,334 (GRCm39) |
V24A |
probably benign |
Het |
| Scnm1 |
T |
C |
3: 95,040,348 (GRCm39) |
K96E |
probably benign |
Het |
| Sec16a |
A |
C |
2: 26,309,735 (GRCm39) |
D2090E |
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,821,576 (GRCm39) |
|
probably null |
Het |
| Snx2 |
T |
C |
18: 53,327,630 (GRCm39) |
S119P |
probably benign |
Het |
| Stam |
A |
G |
2: 14,120,779 (GRCm39) |
|
probably benign |
Het |
| Sult2b1 |
T |
A |
7: 45,384,698 (GRCm39) |
E126V |
probably benign |
Het |
| Tor1aip1 |
T |
C |
1: 155,911,590 (GRCm39) |
E131G |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,619,040 (GRCm39) |
C14367Y |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,135,131 (GRCm39) |
F821S |
possibly damaging |
Het |
| Vmn1r32 |
T |
C |
6: 66,529,922 (GRCm39) |
N285D |
probably benign |
Het |
| Vmn2r23 |
T |
C |
6: 123,718,741 (GRCm39) |
L698P |
possibly damaging |
Het |
| Wnt8a |
T |
A |
18: 34,675,474 (GRCm39) |
L18Q |
possibly damaging |
Het |
| Zfp747 |
T |
C |
7: 126,973,666 (GRCm39) |
E168G |
probably benign |
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 |
|
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 |
2015-12-18 |
Incidental Mutation