Incidental Mutation 'R6345:Rbm19'
| ID |
514102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
044499-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6345 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 120265105 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 382
(W382L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031590]
[ENSMUST00000202777]
|
| AlphaFold |
Q8R3C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031590
AA Change: W382L
PolyPhen 2
Score 0.306 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: W382L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
75 |
7.64e-20 |
SMART |
|
Pfam:RRM_u2
|
81 |
277 |
1.7e-10 |
PFAM |
|
RRM
|
294 |
364 |
9.14e-9 |
SMART |
|
RRM
|
401 |
474 |
6.4e-22 |
SMART |
|
RRM
|
585 |
652 |
1.6e-4 |
SMART |
|
coiled coil region
|
694 |
717 |
N/A |
INTRINSIC |
|
RRM
|
723 |
799 |
4.59e-23 |
SMART |
|
RRM
|
825 |
900 |
9.4e-20 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000180812
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181905
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202777
AA Change: W382L
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: W382L
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
3 |
75 |
3.3e-22 |
SMART |
|
Pfam:RRM_u2
|
81 |
269 |
1.2e-6 |
PFAM |
|
RRM
|
294 |
364 |
3.9e-11 |
SMART |
|
RRM
|
401 |
474 |
2.7e-24 |
SMART |
|
RRM
|
585 |
652 |
7e-7 |
SMART |
|
coiled coil region
|
694 |
717 |
N/A |
INTRINSIC |
|
RRM
|
723 |
799 |
2e-25 |
SMART |
|
Pfam:RRM_6
|
826 |
865 |
1.1e-3 |
PFAM |
|
Pfam:RRM_1
|
826 |
870 |
8.5e-6 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.5%
|
| Validation Efficiency |
100% (61/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nucleolar protein that contains six RNA-binding motifs. The encoded protein may be involved in regulating ribosome biogenesis. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Apr 2009]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit failure to undergo compaction, growth arrest at the morula stage, and apoptosis such that no embryos are observed at E6.5. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(10) : Gene trapped(10) |
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,061,913 (GRCm39) |
I121T |
probably benign |
Het |
| 4921524L21Rik |
T |
A |
18: 6,626,399 (GRCm39) |
M137K |
possibly damaging |
Het |
| Angpt4 |
C |
A |
2: 151,771,354 (GRCm39) |
N223K |
probably benign |
Het |
| Ankrd6 |
T |
C |
4: 32,810,266 (GRCm39) |
R437G |
probably damaging |
Het |
| Atp9a |
C |
T |
2: 168,518,093 (GRCm39) |
S264N |
probably damaging |
Het |
| AY358078 |
A |
C |
14: 52,063,749 (GRCm39) |
Y465S |
probably damaging |
Het |
| Bin3 |
G |
A |
14: 70,374,676 (GRCm39) |
R235Q |
probably benign |
Het |
| Bsn |
G |
A |
9: 107,984,554 (GRCm39) |
P3167S |
unknown |
Het |
| Camk2g |
G |
A |
14: 20,787,443 (GRCm39) |
R274C |
probably damaging |
Het |
| Ccdc61 |
A |
T |
7: 18,643,914 (GRCm39) |
|
probably null |
Het |
| Ccnjl |
A |
T |
11: 43,476,165 (GRCm39) |
T263S |
probably benign |
Het |
| Col17a1 |
G |
T |
19: 47,641,818 (GRCm39) |
P944T |
possibly damaging |
Het |
| Cyp2c39 |
A |
T |
19: 39,501,615 (GRCm39) |
|
probably null |
Het |
| Cyp2c39 |
G |
T |
19: 39,501,616 (GRCm39) |
|
probably null |
Het |
| Cyp4a32 |
T |
C |
4: 115,459,560 (GRCm39) |
V98A |
possibly damaging |
Het |
| Dnah9 |
A |
G |
11: 65,928,519 (GRCm39) |
V2050A |
probably damaging |
Het |
| F5 |
A |
G |
1: 164,019,520 (GRCm39) |
N665S |
probably benign |
Het |
| Fbxl6 |
A |
T |
15: 76,420,054 (GRCm39) |
C520S |
probably damaging |
Het |
| Fscn2 |
C |
A |
11: 120,252,853 (GRCm39) |
H107N |
probably damaging |
Het |
| Gfm2 |
C |
T |
13: 97,299,461 (GRCm39) |
T367M |
probably damaging |
Het |
| Gle1 |
C |
G |
2: 29,826,127 (GRCm39) |
P69A |
probably benign |
Het |
| Gpr156 |
A |
T |
16: 37,807,881 (GRCm39) |
D176V |
probably damaging |
Het |
| Grip2 |
A |
G |
6: 91,742,369 (GRCm39) |
S895P |
possibly damaging |
Het |
| Hfm1 |
C |
T |
5: 106,989,504 (GRCm39) |
G1404D |
probably benign |
Het |
| Ifit1bl1 |
G |
A |
19: 34,571,570 (GRCm39) |
R296* |
probably null |
Het |
| Ighv1-39 |
C |
T |
12: 114,878,479 (GRCm39) |
V31M |
possibly damaging |
Het |
| Itgav |
A |
G |
2: 83,632,380 (GRCm39) |
E956G |
probably damaging |
Het |
| Katnip |
C |
A |
7: 125,352,159 (GRCm39) |
D26E |
probably damaging |
Het |
| Lsm8 |
A |
G |
6: 18,853,644 (GRCm39) |
D86G |
probably damaging |
Het |
| Mdh1b |
T |
G |
1: 63,754,398 (GRCm39) |
H390P |
possibly damaging |
Het |
| Mtrf1l |
A |
T |
10: 5,767,468 (GRCm39) |
I216N |
possibly damaging |
Het |
| Muc16 |
G |
A |
9: 18,566,222 (GRCm39) |
T2099I |
unknown |
Het |
| Myh7 |
T |
C |
14: 55,221,149 (GRCm39) |
R925G |
probably damaging |
Het |
| Myo1h |
T |
A |
5: 114,489,769 (GRCm39) |
I658N |
probably damaging |
Het |
| Myo5a |
A |
T |
9: 75,097,195 (GRCm39) |
D81V |
possibly damaging |
Het |
| Nell1 |
G |
A |
7: 49,625,171 (GRCm39) |
C12Y |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,944,522 (GRCm39) |
Y4724C |
probably damaging |
Het |
| Or8k53 |
A |
G |
2: 86,177,892 (GRCm39) |
Y73H |
probably damaging |
Het |
| Pah |
G |
A |
10: 87,412,049 (GRCm39) |
D315N |
probably damaging |
Het |
| Per2 |
A |
G |
1: 91,376,444 (GRCm39) |
V143A |
probably damaging |
Het |
| Plcxd1 |
T |
C |
5: 110,248,165 (GRCm39) |
V38A |
probably benign |
Het |
| Pld1 |
A |
G |
3: 28,184,896 (GRCm39) |
|
probably benign |
Het |
| Plekhh2 |
A |
G |
17: 84,883,215 (GRCm39) |
N761S |
probably benign |
Het |
| Polh |
T |
C |
17: 46,493,664 (GRCm39) |
I318V |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,414,880 (GRCm39) |
Q1323R |
probably null |
Het |
| Rb1cc1 |
T |
A |
1: 6,333,481 (GRCm39) |
S1440T |
probably benign |
Het |
| Rchy1 |
T |
C |
5: 92,105,801 (GRCm39) |
D49G |
probably benign |
Het |
| Ric1 |
A |
G |
19: 29,581,485 (GRCm39) |
D1402G |
probably benign |
Het |
| S1pr3 |
G |
T |
13: 51,573,067 (GRCm39) |
A83S |
probably damaging |
Het |
| S1pr3 |
C |
A |
13: 51,573,068 (GRCm39) |
A83D |
probably damaging |
Het |
| Selplg |
G |
A |
5: 113,958,210 (GRCm39) |
P32L |
probably benign |
Het |
| Serpinb9c |
T |
C |
13: 33,333,978 (GRCm39) |
R355G |
probably damaging |
Het |
| Slx4 |
G |
C |
16: 3,808,714 (GRCm39) |
Q409E |
probably benign |
Het |
| Sntg1 |
A |
C |
1: 8,653,508 (GRCm39) |
L243R |
possibly damaging |
Het |
| Specc1l |
G |
T |
10: 75,084,322 (GRCm39) |
D682Y |
probably damaging |
Het |
| Spen |
C |
T |
4: 141,198,944 (GRCm39) |
V3228I |
possibly damaging |
Het |
| Strip1 |
T |
C |
3: 107,535,516 (GRCm39) |
E69G |
probably damaging |
Het |
| Tasp1 |
C |
A |
2: 139,793,457 (GRCm39) |
V240L |
probably damaging |
Het |
| Tdrd9 |
T |
A |
12: 112,001,042 (GRCm39) |
F787L |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,997,144 (GRCm39) |
S125P |
probably damaging |
Het |
| Wdhd1 |
A |
G |
14: 47,489,379 (GRCm39) |
M718T |
probably damaging |
Het |
|
| Other mutations in Rbm19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Rbm19
|
APN |
5 |
120,281,503 (GRCm39) |
splice site |
probably benign |
|
|
IGL01750:Rbm19
|
APN |
5 |
120,256,857 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01830:Rbm19
|
APN |
5 |
120,262,760 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02028:Rbm19
|
APN |
5 |
120,258,301 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02262:Rbm19
|
APN |
5 |
120,281,470 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03030:Rbm19
|
APN |
5 |
120,269,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03094:Rbm19
|
APN |
5 |
120,261,023 (GRCm39) |
missense |
probably damaging |
1.00 |
|
N/A:Rbm19
|
UTSW |
5 |
120,282,162 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4812001:Rbm19
|
UTSW |
5 |
120,266,315 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R0190:Rbm19
|
UTSW |
5 |
120,282,111 (GRCm39) |
missense |
probably benign |
0.30 |
|
R0350:Rbm19
|
UTSW |
5 |
120,266,372 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0594:Rbm19
|
UTSW |
5 |
120,266,381 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0924:Rbm19
|
UTSW |
5 |
120,264,269 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0930:Rbm19
|
UTSW |
5 |
120,264,269 (GRCm39) |
missense |
probably benign |
0.11 |
|
R0963:Rbm19
|
UTSW |
5 |
120,268,799 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1144:Rbm19
|
UTSW |
5 |
120,261,081 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1438:Rbm19
|
UTSW |
5 |
120,260,961 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1441:Rbm19
|
UTSW |
5 |
120,269,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1458:Rbm19
|
UTSW |
5 |
120,282,094 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1518:Rbm19
|
UTSW |
5 |
120,278,345 (GRCm39) |
small deletion |
probably benign |
|
|
R1992:Rbm19
|
UTSW |
5 |
120,271,948 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2029:Rbm19
|
UTSW |
5 |
120,258,307 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3055:Rbm19
|
UTSW |
5 |
120,271,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4356:Rbm19
|
UTSW |
5 |
120,278,427 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R4808:Rbm19
|
UTSW |
5 |
120,256,839 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4817:Rbm19
|
UTSW |
5 |
120,271,799 (GRCm39) |
intron |
probably benign |
|
|
R4857:Rbm19
|
UTSW |
5 |
120,270,898 (GRCm39) |
splice site |
probably benign |
|
|
R4963:Rbm19
|
UTSW |
5 |
120,279,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5812:Rbm19
|
UTSW |
5 |
120,279,642 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5857:Rbm19
|
UTSW |
5 |
120,271,007 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5878:Rbm19
|
UTSW |
5 |
120,270,932 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Rbm19
|
UTSW |
5 |
120,278,372 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6489:Rbm19
|
UTSW |
5 |
120,258,195 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6495:Rbm19
|
UTSW |
5 |
120,257,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7081:Rbm19
|
UTSW |
5 |
120,261,216 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7181:Rbm19
|
UTSW |
5 |
120,254,532 (GRCm39) |
unclassified |
probably benign |
|
|
R7307:Rbm19
|
UTSW |
5 |
120,324,283 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R8058:Rbm19
|
UTSW |
5 |
120,278,440 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8432:Rbm19
|
UTSW |
5 |
120,313,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8696:Rbm19
|
UTSW |
5 |
120,265,132 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8910:Rbm19
|
UTSW |
5 |
120,271,844 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9261:Rbm19
|
UTSW |
5 |
120,256,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9424:Rbm19
|
UTSW |
5 |
120,278,345 (GRCm39) |
small deletion |
probably benign |
|
|
R9507:Rbm19
|
UTSW |
5 |
120,265,232 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9695:Rbm19
|
UTSW |
5 |
120,335,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGCAGACATGATCACACATAGG -3'
(R):5'- TCAGCAGTAGAGCGCTTTGTC -3'
Sequencing Primer
(F):5'- CATGATCACACATAGGGGCAGC -3'
(R):5'- CAGTAGAGCGCTTTGTCCTGTTTC -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation