Incidental Mutation 'R8886:Rbm20'
| ID |
677362 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm20
|
| Ensembl Gene |
ENSMUSG00000043639 |
| Gene Name |
RNA binding motif protein 20 |
| Synonyms |
2010003H22Rik, 1110018J23Rik |
| MMRRC Submission |
068691-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R8886 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 53801767 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 92
(I92L)
|
| 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: I92L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: I92L
| 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 |
probably benign
Transcript: ENSMUST00000164202
AA Change: I92L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: I92L
| 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 |
99% (72/73) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700025G04Rik |
T |
A |
1: 151,882,349 (GRCm39) |
N14I |
possibly damaging |
Het |
| 1700066M21Rik |
T |
A |
1: 57,422,008 (GRCm39) |
I128N |
probably damaging |
Het |
| 4930407I10Rik |
G |
T |
15: 81,950,051 (GRCm39) |
S1316I |
probably damaging |
Het |
| Abcc9 |
T |
C |
6: 142,546,420 (GRCm39) |
|
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,150,928 (GRCm39) |
S1102P |
probably damaging |
Het |
| BC061237 |
A |
C |
14: 44,741,691 (GRCm39) |
I145L |
probably benign |
Het |
| Birc7 |
A |
T |
2: 180,574,786 (GRCm39) |
|
probably benign |
Het |
| Boc |
C |
T |
16: 44,319,806 (GRCm39) |
G393S |
|
Het |
| Ccdc112 |
C |
T |
18: 46,444,826 (GRCm39) |
G18R |
unknown |
Het |
| Cryzl1 |
T |
A |
16: 91,492,188 (GRCm39) |
T213S |
possibly damaging |
Het |
| Cttnbp2 |
T |
C |
6: 18,414,298 (GRCm39) |
N916D |
probably benign |
Het |
| Cyp4v3 |
A |
T |
8: 45,774,785 (GRCm39) |
L123* |
probably null |
Het |
| Dmpk |
C |
A |
7: 18,825,886 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
A |
T |
11: 65,943,840 (GRCm39) |
V1932E |
probably damaging |
Het |
| Ect2 |
T |
C |
3: 27,200,126 (GRCm39) |
|
probably benign |
Het |
| Eif4a3 |
A |
G |
11: 119,179,705 (GRCm39) |
Y361H |
probably damaging |
Het |
| Fkbp10 |
A |
G |
11: 100,312,862 (GRCm39) |
E336G |
probably damaging |
Het |
| Gnptg |
T |
C |
17: 25,453,628 (GRCm39) |
S305G |
probably benign |
Het |
| Greb1l |
A |
T |
18: 10,553,843 (GRCm39) |
I1615F |
probably benign |
Het |
| Gse1 |
G |
A |
8: 121,297,470 (GRCm39) |
R561Q |
unknown |
Het |
| Igkv9-129 |
T |
A |
6: 67,817,221 (GRCm39) |
Y108* |
probably null |
Het |
| Igsf10 |
T |
A |
3: 59,237,410 (GRCm39) |
T924S |
probably benign |
Het |
| Itgb6 |
A |
T |
2: 60,458,324 (GRCm39) |
C476* |
probably null |
Het |
| Itih4 |
C |
T |
14: 30,617,482 (GRCm39) |
Q601* |
probably null |
Het |
| Itpk1 |
G |
A |
12: 102,550,604 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,337,651 (GRCm39) |
|
probably benign |
Het |
| Jakmip3 |
G |
A |
7: 138,609,171 (GRCm39) |
E92K |
probably benign |
Het |
| Klhl29 |
A |
T |
12: 5,187,542 (GRCm39) |
L274H |
possibly damaging |
Het |
| Klk1b5 |
T |
A |
7: 43,869,192 (GRCm39) |
M122K |
probably damaging |
Het |
| Krt84 |
A |
G |
15: 101,437,221 (GRCm39) |
I314T |
possibly damaging |
Het |
| Lama2 |
A |
T |
10: 27,245,157 (GRCm39) |
|
probably benign |
Het |
| Lmntd1 |
T |
C |
6: 145,363,152 (GRCm39) |
T270A |
probably damaging |
Het |
| Mindy4 |
T |
C |
6: 55,255,223 (GRCm39) |
L567P |
probably benign |
Het |
| Mt2 |
A |
T |
8: 94,899,476 (GRCm39) |
M1L |
probably damaging |
Het |
| Myct1 |
C |
T |
10: 5,554,208 (GRCm39) |
T25I |
probably damaging |
Het |
| Myh11 |
A |
G |
16: 14,052,278 (GRCm39) |
I396T |
|
Het |
| Naprt |
T |
C |
15: 75,765,433 (GRCm39) |
T136A |
probably damaging |
Het |
| Nbea |
T |
C |
3: 55,966,148 (GRCm39) |
N438S |
probably damaging |
Het |
| Nckap1 |
C |
A |
2: 80,339,055 (GRCm39) |
|
probably null |
Het |
| Nop56 |
G |
T |
2: 130,117,902 (GRCm39) |
R126L |
probably damaging |
Het |
| Nts |
C |
T |
10: 102,320,868 (GRCm39) |
A74T |
probably benign |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Or8b49 |
T |
G |
9: 38,506,446 (GRCm39) |
F310V |
possibly damaging |
Het |
| Pcp2 |
A |
G |
8: 3,675,208 (GRCm39) |
|
probably null |
Het |
| Pdgfra |
T |
C |
5: 75,343,734 (GRCm39) |
S752P |
probably benign |
Het |
| Pign |
C |
T |
1: 105,512,779 (GRCm39) |
V635I |
probably benign |
Het |
| Plekhg3 |
C |
A |
12: 76,611,748 (GRCm39) |
H342Q |
possibly damaging |
Het |
| Ppp4c |
A |
T |
7: 126,386,466 (GRCm39) |
I177N |
probably damaging |
Het |
| Psmd5 |
A |
G |
2: 34,747,755 (GRCm39) |
F301L |
possibly damaging |
Het |
| Rad52 |
C |
T |
6: 119,890,041 (GRCm39) |
R56C |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,364,264 (GRCm39) |
D4522G |
|
Het |
| Robo3 |
T |
C |
9: 37,328,768 (GRCm39) |
E1276G |
probably damaging |
Het |
| Rxrb |
T |
C |
17: 34,256,428 (GRCm39) |
F500L |
probably damaging |
Het |
| Sar1a |
A |
T |
10: 61,522,172 (GRCm39) |
N88I |
possibly damaging |
Het |
| Scd3 |
A |
G |
19: 44,230,276 (GRCm39) |
D353G |
probably damaging |
Het |
| Sh2d4b |
T |
C |
14: 40,595,946 (GRCm39) |
|
probably benign |
Het |
| Ski |
A |
T |
4: 155,244,016 (GRCm39) |
L498Q |
probably null |
Het |
| Spocd1 |
T |
A |
4: 129,845,631 (GRCm39) |
M497K |
|
Het |
| Sspo |
A |
G |
6: 48,458,201 (GRCm39) |
E3299G |
possibly damaging |
Het |
| St14 |
C |
A |
9: 31,008,420 (GRCm39) |
V507F |
possibly damaging |
Het |
| Tcf24 |
G |
A |
1: 10,037,388 (GRCm39) |
T108I |
probably benign |
Het |
| Tecta |
T |
C |
9: 42,278,359 (GRCm39) |
T1050A |
probably benign |
Het |
| Ttc17 |
T |
C |
2: 94,205,473 (GRCm39) |
D291G |
probably benign |
Het |
| Tubgcp2 |
G |
T |
7: 139,584,882 (GRCm39) |
R518S |
probably benign |
Het |
| Ugt2a3 |
T |
C |
5: 87,484,358 (GRCm39) |
Y222C |
probably damaging |
Het |
| Unc5c |
C |
G |
3: 141,509,581 (GRCm39) |
A687G |
probably benign |
Het |
| Usp42 |
T |
C |
5: 143,700,714 (GRCm39) |
D1103G |
probably damaging |
Het |
| Vmn1r83 |
A |
C |
7: 12,055,843 (GRCm39) |
D71E |
probably benign |
Het |
| Vmn2r3 |
T |
A |
3: 64,194,892 (GRCm39) |
I9F |
possibly damaging |
Het |
| Zfand1 |
T |
C |
3: 10,409,862 (GRCm39) |
Q160R |
probably null |
Het |
| Zhx3 |
T |
C |
2: 160,623,216 (GRCm39) |
N317S |
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 |
|
|
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 |
|
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'- TAGACCTATGAGGCAGGGTCTTG -3'
(R):5'- CGAAAAGGCGATTGCGGTTG -3'
Sequencing Primer
(F):5'- CCTATGAGGCAGGGTCTTGTTGAC -3'
(R):5'- AACCGAGGCAGCATGCTG -3'
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| Posted On |
2021-08-02 |
Incidental Mutation