Incidental Mutation 'R0190:Rbm19'
| ID |
23162 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
038451-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0190 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120282111 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 823
(T823A)
|
| 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: T823A
PolyPhen 2
Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: T823A
| 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
AA Change: T823A
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: T823A
| 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 |
0.0790 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.6%
- 10x: 91.6%
- 20x: 72.5%
|
| Validation Efficiency |
75% (45/60) |
| 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 |
|---|
| Acsl1 |
T |
C |
8: 46,966,429 (GRCm39) |
|
probably null |
Het |
| Aff2 |
CA |
CAAA |
X: 68,892,711 (GRCm39) |
|
probably null |
Het |
| Ankrd34a |
A |
G |
3: 96,505,105 (GRCm39) |
D103G |
probably damaging |
Het |
| Atp1b2 |
T |
C |
11: 69,492,388 (GRCm39) |
D224G |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,220,730 (GRCm39) |
D22G |
possibly damaging |
Het |
| Btbd9 |
C |
T |
17: 30,493,916 (GRCm39) |
D492N |
possibly damaging |
Het |
| Caskin1 |
C |
T |
17: 24,723,596 (GRCm39) |
L795F |
possibly damaging |
Het |
| Cdk12 |
T |
C |
11: 98,132,657 (GRCm39) |
|
probably null |
Het |
| Crtc2 |
A |
G |
3: 90,166,716 (GRCm39) |
H91R |
probably damaging |
Het |
| Dbt |
A |
G |
3: 116,332,736 (GRCm39) |
|
probably null |
Het |
| Dda1 |
C |
A |
8: 71,924,877 (GRCm39) |
Y41* |
probably null |
Het |
| Dnah2 |
T |
A |
11: 69,326,075 (GRCm39) |
D3692V |
probably damaging |
Het |
| Dpep1 |
A |
G |
8: 123,927,447 (GRCm39) |
T334A |
probably benign |
Het |
| Enthd1 |
C |
T |
15: 80,418,695 (GRCm39) |
|
probably null |
Het |
| Fpr-rs6 |
T |
A |
17: 20,402,741 (GRCm39) |
I207F |
probably benign |
Het |
| Fsip2 |
T |
A |
2: 82,815,521 (GRCm39) |
S3751R |
possibly damaging |
Het |
| Gigyf2 |
A |
T |
1: 87,356,410 (GRCm39) |
|
probably benign |
Het |
| Gtf3c4 |
C |
A |
2: 28,730,140 (GRCm39) |
D34Y |
probably benign |
Het |
| Iftap |
G |
A |
2: 101,416,775 (GRCm39) |
S58L |
probably benign |
Het |
| Igfn1 |
A |
T |
1: 135,889,790 (GRCm39) |
V2419E |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,386,647 (GRCm39) |
I79L |
probably benign |
Het |
| Kif21b |
A |
G |
1: 136,098,957 (GRCm39) |
H1415R |
probably benign |
Het |
| Mad2l1 |
T |
C |
6: 66,516,862 (GRCm39) |
S185P |
possibly damaging |
Het |
| Mettl18 |
A |
G |
1: 163,823,991 (GRCm39) |
E104G |
probably damaging |
Het |
| Mrgprb2 |
G |
A |
7: 48,202,525 (GRCm39) |
H67Y |
possibly damaging |
Het |
| Mrgprd |
G |
A |
7: 144,875,439 (GRCm39) |
M103I |
probably benign |
Het |
| Nanos3 |
C |
T |
8: 84,902,763 (GRCm39) |
R133Q |
probably damaging |
Het |
| Npc1 |
G |
A |
18: 12,324,887 (GRCm39) |
T1202I |
probably damaging |
Het |
| Nucks1 |
A |
G |
1: 131,852,329 (GRCm39) |
D60G |
probably damaging |
Het |
| Or10g7 |
A |
G |
9: 39,905,840 (GRCm39) |
I245V |
probably benign |
Het |
| Or13f5 |
G |
C |
4: 52,825,613 (GRCm39) |
W72S |
probably damaging |
Het |
| Or4a72 |
T |
A |
2: 89,405,302 (GRCm39) |
Y256F |
probably damaging |
Het |
| Paqr8 |
A |
G |
1: 21,005,271 (GRCm39) |
T142A |
probably benign |
Het |
| Pdss1 |
T |
C |
2: 22,796,843 (GRCm39) |
S119P |
probably damaging |
Het |
| Plcl2 |
A |
G |
17: 50,914,671 (GRCm39) |
D560G |
probably benign |
Het |
| Ppm1b |
T |
A |
17: 85,301,531 (GRCm39) |
V137E |
probably damaging |
Het |
| Ppp1r16b |
A |
C |
2: 158,537,983 (GRCm39) |
K35Q |
probably damaging |
Het |
| Prkd2 |
A |
T |
7: 16,603,815 (GRCm39) |
E832V |
probably damaging |
Het |
| Rab34 |
G |
T |
11: 78,082,232 (GRCm39) |
K191N |
possibly damaging |
Het |
| Rad51ap2 |
A |
C |
12: 11,508,540 (GRCm39) |
T821P |
probably benign |
Het |
| Rpf2 |
T |
G |
10: 40,103,597 (GRCm39) |
H106P |
probably damaging |
Het |
| Schip1 |
A |
G |
3: 68,533,177 (GRCm39) |
M453V |
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,562,920 (GRCm39) |
N310K |
possibly damaging |
Het |
| Sf3b1 |
T |
C |
1: 55,029,465 (GRCm39) |
D1179G |
probably damaging |
Het |
| Skint2 |
A |
T |
4: 112,473,729 (GRCm39) |
T4S |
possibly damaging |
Het |
| Slc22a5 |
A |
T |
11: 53,760,241 (GRCm39) |
Y358* |
probably null |
Het |
| Slc34a1 |
T |
C |
13: 55,556,914 (GRCm39) |
M251T |
probably benign |
Het |
| Slc44a5 |
A |
G |
3: 153,944,755 (GRCm39) |
D124G |
probably null |
Het |
| Slc9b1 |
G |
A |
3: 135,063,434 (GRCm39) |
E73K |
unknown |
Het |
| Ssbp2 |
T |
C |
13: 91,817,829 (GRCm39) |
L156P |
probably damaging |
Het |
| Taar2 |
G |
A |
10: 23,817,393 (GRCm39) |
R311H |
probably benign |
Het |
| Trim47 |
A |
G |
11: 115,997,053 (GRCm39) |
V568A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,718,324 (GRCm39) |
|
probably benign |
Het |
| Ttpa |
A |
T |
4: 20,021,260 (GRCm39) |
I74F |
probably damaging |
Het |
| Vmn2r52 |
T |
C |
7: 9,905,315 (GRCm39) |
I175V |
probably benign |
Het |
| Wrn |
C |
T |
8: 33,731,011 (GRCm39) |
C1350Y |
probably benign |
Het |
| Zfp11 |
C |
T |
5: 129,735,302 (GRCm39) |
G53E |
possibly damaging |
Het |
| Zfp422 |
A |
T |
6: 116,603,572 (GRCm39) |
D142E |
probably damaging |
Het |
| Zfp473 |
A |
T |
7: 44,382,612 (GRCm39) |
C574S |
probably damaging |
Het |
| Zfp638 |
T |
A |
6: 83,905,946 (GRCm39) |
M37K |
probably damaging |
Het |
| Zfp976 |
C |
A |
7: 42,291,948 (GRCm39) |
|
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCTGGAGGCCACTTGCAATGAC -3'
(R):5'- GGACAGTGCTAAAGTACAGGCACAC -3'
Sequencing Primer
(F):5'- CTTGCAATGACCAGGAGGTG -3'
(R):5'- ATCTCTGAGATTACGGAAGCC -3'
|
| Posted On |
2013-04-16 |
Incidental Mutation