Incidental Mutation 'IGL01443:Rbm19'
| ID |
84336 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01443
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 120281503 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144339
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031590]
[ENSMUST00000202777]
|
| AlphaFold |
Q8R3C6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000031590
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
| 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 benign
Transcript: ENSMUST00000202777
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
| 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 |
|
| Validation Efficiency |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts2 |
A |
G |
11: 50,694,690 (GRCm39) |
E1159G |
possibly damaging |
Het |
| Adgrl3 |
A |
G |
5: 81,613,134 (GRCm39) |
Y189C |
probably damaging |
Het |
| AW554918 |
G |
A |
18: 25,478,012 (GRCm39) |
G446R |
probably damaging |
Het |
| Baiap3 |
A |
G |
17: 25,464,121 (GRCm39) |
F884S |
possibly damaging |
Het |
| Cd101 |
T |
C |
3: 100,910,887 (GRCm39) |
T924A |
probably benign |
Het |
| Cdk12 |
T |
A |
11: 98,136,295 (GRCm39) |
V1183E |
unknown |
Het |
| Clcc1 |
T |
C |
3: 108,578,219 (GRCm39) |
M240T |
probably benign |
Het |
| Dnmbp |
C |
A |
19: 43,891,309 (GRCm39) |
A153S |
probably damaging |
Het |
| Dus4l |
T |
C |
12: 31,702,409 (GRCm39) |
|
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,485,943 (GRCm39) |
E430G |
probably benign |
Het |
| Erc1 |
T |
C |
6: 119,801,432 (GRCm39) |
K195R |
probably damaging |
Het |
| Evpl |
T |
C |
11: 116,113,280 (GRCm39) |
E1470G |
probably damaging |
Het |
| Extl3 |
A |
T |
14: 65,314,919 (GRCm39) |
S88T |
probably damaging |
Het |
| Fam135b |
A |
T |
15: 71,335,213 (GRCm39) |
H660Q |
probably benign |
Het |
| Fat1 |
G |
A |
8: 45,493,613 (GRCm39) |
G3920S |
probably damaging |
Het |
| Fbxo38 |
A |
G |
18: 62,666,741 (GRCm39) |
V144A |
probably damaging |
Het |
| Grwd1 |
C |
T |
7: 45,479,834 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,358,796 (GRCm39) |
T252A |
probably damaging |
Het |
| Igkv3-1 |
A |
G |
6: 70,681,088 (GRCm39) |
S96G |
possibly damaging |
Het |
| Igkv4-68 |
G |
T |
6: 69,281,921 (GRCm39) |
F83L |
probably damaging |
Het |
| Klhl31 |
T |
C |
9: 77,557,542 (GRCm39) |
V86A |
possibly damaging |
Het |
| Lypd3 |
G |
A |
7: 24,336,063 (GRCm39) |
G17R |
probably benign |
Het |
| Manba |
T |
A |
3: 135,250,589 (GRCm39) |
D405E |
probably damaging |
Het |
| Map3k19 |
A |
G |
1: 127,766,244 (GRCm39) |
S227P |
probably benign |
Het |
| Nras |
T |
A |
3: 102,969,751 (GRCm39) |
C118S |
probably benign |
Het |
| Or52n20 |
A |
G |
7: 104,320,278 (GRCm39) |
D123G |
probably damaging |
Het |
| Pde8a |
T |
C |
7: 80,973,929 (GRCm39) |
F629L |
probably damaging |
Het |
| Phtf2 |
A |
G |
5: 20,987,265 (GRCm39) |
|
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 116,017,429 (GRCm39) |
F109L |
probably benign |
Het |
| Plod3 |
G |
A |
5: 137,019,075 (GRCm39) |
R320H |
probably benign |
Het |
| Ppib |
T |
C |
9: 65,972,879 (GRCm39) |
F152L |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,132,563 (GRCm39) |
S628R |
probably benign |
Het |
| Ripk1 |
A |
G |
13: 34,199,251 (GRCm39) |
D201G |
probably damaging |
Het |
| Speer4c2 |
A |
G |
5: 15,857,642 (GRCm39) |
*212Q |
probably null |
Het |
| St14 |
G |
T |
9: 31,011,489 (GRCm39) |
S434* |
probably null |
Het |
| Tbc1d9 |
A |
G |
8: 83,966,560 (GRCm39) |
D387G |
probably damaging |
Het |
| Trio |
A |
G |
15: 27,838,861 (GRCm39) |
|
probably benign |
Het |
| Ttn |
G |
A |
2: 76,544,215 (GRCm39) |
R32924C |
probably damaging |
Het |
| Vmn1r181 |
T |
C |
7: 23,684,006 (GRCm39) |
V157A |
possibly damaging |
Het |
| Zfp473 |
C |
T |
7: 44,388,987 (GRCm39) |
D45N |
probably damaging |
Het |
|
| Other mutations in Rbm19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
|
| Posted On |
2013-11-11 |
Incidental Mutation