Incidental Mutation 'R6836:Rbm20'
| ID |
534599 |
| 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 # |
R6836 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
53665737-53855511 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 53802500 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Glutamic Acid
at position 336
(G336E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000129447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000095969]
[ENSMUST00000164202]
|
| AlphaFold |
Q3UQS8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000095969
AA Change: G336E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000093665
Gene: ENSMUSG00000043639
AA Change: G336E
| 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 damaging
Transcript: ENSMUST00000164202
AA Change: G336E
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000129447
Gene: ENSMUSG00000043639
AA Change: G336E
| 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: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
100% (62/62) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl2 |
T |
C |
2: 26,971,718 (GRCm39) |
M1T |
probably null |
Het |
| Aim2 |
C |
G |
1: 173,291,546 (GRCm39) |
T317R |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,077,331 (GRCm39) |
Y473C |
probably damaging |
Het |
| Alox8 |
T |
C |
11: 69,080,715 (GRCm39) |
R209G |
possibly damaging |
Het |
| Asb5 |
A |
G |
8: 55,038,106 (GRCm39) |
M210V |
probably benign |
Het |
| Atp2c2 |
T |
A |
8: 120,461,154 (GRCm39) |
L249Q |
probably damaging |
Het |
| AU018091 |
T |
G |
7: 3,213,986 (GRCm39) |
D77A |
probably damaging |
Het |
| Bahcc1 |
A |
T |
11: 120,162,583 (GRCm39) |
K294* |
probably null |
Het |
| Baz2b |
C |
T |
2: 59,747,769 (GRCm39) |
R1298Q |
probably damaging |
Het |
| Bivm |
T |
A |
1: 44,182,296 (GRCm39) |
N501K |
possibly damaging |
Het |
| Bpifb5 |
T |
A |
2: 154,069,985 (GRCm39) |
I145N |
probably benign |
Het |
| Casq2 |
A |
T |
3: 101,994,076 (GRCm39) |
N41I |
probably damaging |
Het |
| Ccdc18 |
T |
C |
5: 108,345,833 (GRCm39) |
L993P |
probably damaging |
Het |
| Cdcp3 |
A |
T |
7: 130,798,233 (GRCm39) |
I81F |
possibly damaging |
Het |
| Cfap44 |
A |
G |
16: 44,224,442 (GRCm39) |
D50G |
probably damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,512,144 (GRCm39) |
I91F |
probably damaging |
Het |
| Crebbp |
T |
A |
16: 3,997,886 (GRCm39) |
H66L |
possibly damaging |
Het |
| Cyfip2 |
T |
C |
11: 46,163,467 (GRCm39) |
T321A |
probably benign |
Het |
| Dido1 |
A |
G |
2: 180,304,100 (GRCm39) |
V1268A |
probably benign |
Het |
| E030030I06Rik |
A |
C |
10: 22,024,391 (GRCm39) |
V174G |
probably damaging |
Het |
| Gm20730 |
G |
T |
6: 43,058,767 (GRCm39) |
|
probably null |
Het |
| Gm36176 |
T |
C |
10: 77,682,976 (GRCm39) |
|
probably benign |
Het |
| Gper1 |
T |
A |
5: 139,412,435 (GRCm39) |
M260K |
probably damaging |
Het |
| Igfbp2 |
T |
C |
1: 72,888,817 (GRCm39) |
L89P |
probably damaging |
Het |
| Katnal1 |
T |
C |
5: 148,830,974 (GRCm39) |
N200S |
probably damaging |
Het |
| Kcnk13 |
G |
T |
12: 100,027,948 (GRCm39) |
R341L |
probably damaging |
Het |
| Klhl20 |
T |
A |
1: 160,932,976 (GRCm39) |
E277D |
probably benign |
Het |
| Lingo1 |
T |
C |
9: 56,527,056 (GRCm39) |
Y517C |
probably damaging |
Het |
| Lrrk1 |
C |
T |
7: 65,992,527 (GRCm39) |
E82K |
probably benign |
Het |
| Mtor |
T |
A |
4: 148,573,955 (GRCm39) |
V1275D |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,552,965 (GRCm39) |
S1089N |
possibly damaging |
Het |
| Notch4 |
C |
T |
17: 34,805,074 (GRCm39) |
T1643I |
probably damaging |
Het |
| Or13a25 |
A |
C |
7: 140,248,093 (GRCm39) |
I298L |
possibly damaging |
Het |
| Or1i2 |
A |
G |
10: 78,448,424 (GRCm39) |
L17P |
probably damaging |
Het |
| Or2y15 |
A |
T |
11: 49,350,904 (GRCm39) |
T133S |
possibly damaging |
Het |
| Or4c10 |
T |
C |
2: 89,760,683 (GRCm39) |
C177R |
probably damaging |
Het |
| Pcdhgb6 |
T |
C |
18: 37,876,015 (GRCm39) |
V241A |
probably benign |
Het |
| Phf11b |
T |
A |
14: 59,565,572 (GRCm39) |
T102S |
possibly damaging |
Het |
| Pkd1 |
T |
A |
17: 24,800,233 (GRCm39) |
V2998E |
probably damaging |
Het |
| Ppp1r13b |
T |
C |
12: 111,801,629 (GRCm39) |
S352G |
probably benign |
Het |
| Ptprh |
C |
T |
7: 4,554,134 (GRCm39) |
V778M |
probably damaging |
Het |
| Ptprz1 |
C |
T |
6: 23,030,664 (GRCm39) |
Q1008* |
probably null |
Het |
| Ralgapa1 |
A |
T |
12: 55,651,058 (GRCm39) |
|
probably null |
Het |
| Sdsl |
T |
C |
5: 120,600,167 (GRCm39) |
I77V |
probably benign |
Het |
| Serpina3b |
G |
A |
12: 104,100,341 (GRCm39) |
E308K |
probably benign |
Het |
| Sfrp5 |
G |
A |
19: 42,190,149 (GRCm39) |
T101I |
probably damaging |
Het |
| Slc2a13 |
C |
T |
15: 91,205,835 (GRCm39) |
V451I |
probably benign |
Het |
| Slc6a9 |
C |
T |
4: 117,725,083 (GRCm39) |
A559V |
possibly damaging |
Het |
| Spg11 |
C |
T |
2: 121,890,016 (GRCm39) |
A2109T |
probably damaging |
Het |
| Stard9 |
C |
T |
2: 120,530,324 (GRCm39) |
R2194C |
probably benign |
Het |
| Tfeb |
T |
C |
17: 48,097,123 (GRCm39) |
|
probably null |
Het |
| Tiam2 |
T |
A |
17: 3,464,655 (GRCm39) |
I128N |
probably benign |
Het |
| Tmem161b |
C |
A |
13: 84,370,537 (GRCm39) |
|
probably benign |
Het |
| Tpr |
T |
G |
1: 150,312,424 (GRCm39) |
|
probably null |
Het |
| Traf3ip1 |
T |
C |
1: 91,448,722 (GRCm39) |
I456T |
probably benign |
Het |
| Ttll4 |
T |
A |
1: 74,728,572 (GRCm39) |
D892E |
probably damaging |
Het |
| Ubr1 |
T |
A |
2: 120,727,156 (GRCm39) |
|
probably null |
Het |
| Vmn2r74 |
T |
A |
7: 85,606,630 (GRCm39) |
I239F |
probably benign |
Het |
| Wdfy3 |
C |
T |
5: 102,100,865 (GRCm39) |
V251M |
probably damaging |
Het |
| Xylb |
T |
A |
9: 119,220,820 (GRCm39) |
L531H |
probably damaging |
Het |
| Zfp960 |
T |
A |
17: 17,308,434 (GRCm39) |
C383S |
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 |
|
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'- TATAGCCACACAGGGCAGGATG -3'
(R):5'- TCAGTTGATGACCCTGCAG -3'
Sequencing Primer
(F):5'- GCCAACCTGCCTTTTCTAAAGAC -3'
(R):5'- AGGGGCCTCACGGACAG -3'
|
| Posted On |
2018-09-12 |
Incidental Mutation