Incidental Mutation 'N/A:Rbm19'
| ID |
40 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
N/A
of strain
294
|
| Quality Score |
|
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 120282162 bp (GRCm39)
|
| Zygosity |
Homozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 840
(I840F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031590]
[ENSMUST00000202777]
|
| AlphaFold |
Q8R3C6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031590
AA Change: I840F
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: I840F
| 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 |
probably damaging
Transcript: ENSMUST00000202777
AA Change: I840F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: I840F
| 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 |
|
| Meta Mutation Damage Score |
0.7786 |
| Coding Region Coverage |
|
| Validation Efficiency |
91% (106/116) |
| 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: 18 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700016P04Rik |
T |
A |
6: 13,415,772 (GRCm39) |
|
noncoding transcript |
Homo |
| Aif1 |
A |
G |
17: 35,391,496 (GRCm39) |
L7S |
possibly damaging |
Homo |
| Ankrd26 |
T |
C |
6: 118,506,535 (GRCm39) |
D646G |
probably benign |
Homo |
| Cacna1s |
A |
G |
1: 136,001,247 (GRCm39) |
I233V |
probably benign |
Homo |
| Cfap92 |
A |
T |
6: 87,667,773 (GRCm39) |
|
noncoding transcript |
Homo |
| Chchd4 |
T |
C |
6: 91,442,187 (GRCm39) |
Y77C |
probably damaging |
Homo |
| Crocc |
G |
A |
4: 140,749,057 (GRCm39) |
R1419C |
probably damaging |
Homo |
| Cyp4f39 |
A |
C |
17: 32,687,655 (GRCm39) |
M74L |
probably benign |
Homo |
| Fgf9 |
C |
A |
14: 58,327,421 (GRCm39) |
|
probably benign |
Homo |
| Gimap6 |
T |
C |
6: 48,679,349 (GRCm39) |
D229G |
probably damaging |
Homo |
| Glp1r |
T |
C |
17: 31,150,257 (GRCm39) |
F393S |
probably damaging |
Homo |
| Lrrc7 |
T |
G |
3: 157,865,977 (GRCm39) |
I1255L |
probably benign |
Homo |
| Mtrr |
C |
A |
13: 68,723,516 (GRCm39) |
|
probably benign |
Homo |
| Pde6b |
A |
T |
5: 108,576,969 (GRCm39) |
|
probably benign |
Homo |
| Serpina3c |
A |
C |
12: 104,115,864 (GRCm39) |
S227A |
probably benign |
Homo |
| Spag17 |
G |
A |
3: 99,889,570 (GRCm39) |
|
probably benign |
Homo |
| Spmip3 |
G |
A |
1: 177,561,100 (GRCm39) |
R13H |
probably damaging |
Homo |
| Zbtb8b |
T |
C |
4: 129,326,361 (GRCm39) |
D268G |
probably benign |
Homo |
|
| 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 |
|
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 |
|
R6345:Rbm19
|
UTSW |
5 |
120,265,105 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
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 |
|
| Nature of Mutation |
 DNA sequencing using the SOLiD technique identified an A to T transversion at position 2619 of the Rbm19 transcript, in exon 21 of 24 total exons. Two transcripts of Rbm19 are displayed on Ensembl. The mutated nucleotide causes an isoleucine to phenylalanine substitution at amino acid 840 of isoform 1 of the encoded protein. The mutation has been confirmed by DNA sequencing using the Sanger method (Figure 1).
|
| Protein Function and Prediction |
Rbm19 encodes the 952 amino acid RNA-binding motif protein 19 (RBM19). RBM19 contains six RNA recognition motifs (RRMs) between amino acids 2-904 (Uniprot Q8R3C6). Mice homozygous for a gene trap allele exhibit early embryonic lethality prior to embryonic day (E) 6.5.
The I840F change is located in the sixth RRM, and predicted to be possibly damaging by the PolyPhen program. |
| Posted On |
2009-11-11 |
Incidental Mutation