Incidental Mutation 'R1144:Rbm19'
| ID |
102251 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
039217-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1144 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 120261081 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 235
(D235G)
|
| 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: D235G
PolyPhen 2
Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: D235G
| 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: ENSMUST00000201527
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202388
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000202777
AA Change: D235G
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: D235G
| 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 |
0.0664 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
| Validation Efficiency |
100% (64/64) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca15 |
C |
T |
7: 119,960,083 (GRCm39) |
|
probably benign |
Het |
| Abcc5 |
A |
T |
16: 20,241,188 (GRCm39) |
|
probably benign |
Het |
| Acsl5 |
A |
C |
19: 55,280,275 (GRCm39) |
D516A |
probably damaging |
Het |
| Adcy1 |
G |
A |
11: 7,087,400 (GRCm39) |
A425T |
probably damaging |
Het |
| Aebp1 |
A |
G |
11: 5,818,475 (GRCm39) |
T107A |
probably benign |
Het |
| Arhgef33 |
T |
C |
17: 80,662,473 (GRCm39) |
S219P |
probably benign |
Het |
| Atm |
T |
G |
9: 53,422,998 (GRCm39) |
|
probably benign |
Het |
| C1ql2 |
A |
C |
1: 120,270,266 (GRCm39) |
Y276S |
probably damaging |
Het |
| Cacna2d1 |
T |
C |
5: 16,527,595 (GRCm39) |
|
probably null |
Het |
| Cmbl |
A |
G |
15: 31,582,020 (GRCm39) |
N6D |
probably benign |
Het |
| Cntn3 |
A |
G |
6: 102,219,087 (GRCm39) |
V511A |
possibly damaging |
Het |
| Coq9 |
C |
A |
8: 95,569,251 (GRCm39) |
R28S |
probably benign |
Het |
| Creld1 |
T |
C |
6: 113,460,922 (GRCm39) |
F20S |
probably benign |
Het |
| Dcstamp |
A |
G |
15: 39,623,764 (GRCm39) |
K404E |
possibly damaging |
Het |
| Dip2b |
T |
A |
15: 100,052,131 (GRCm39) |
I244K |
probably benign |
Het |
| Dnhd1 |
G |
A |
7: 105,362,238 (GRCm39) |
E3700K |
probably damaging |
Het |
| Dnmt3l |
T |
A |
10: 77,887,739 (GRCm39) |
C110S |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr1 |
T |
G |
8: 26,048,159 (GRCm39) |
V172G |
probably damaging |
Het |
| Frem3 |
C |
A |
8: 81,338,513 (GRCm39) |
Q269K |
probably benign |
Het |
| Frmd6 |
C |
A |
12: 70,923,942 (GRCm39) |
H67N |
probably damaging |
Het |
| Fry |
A |
G |
5: 150,341,929 (GRCm39) |
T1532A |
possibly damaging |
Het |
| Git2 |
G |
T |
5: 114,891,375 (GRCm39) |
S243R |
probably benign |
Het |
| Grid1 |
A |
G |
14: 35,284,633 (GRCm39) |
|
probably benign |
Het |
| Grp |
A |
G |
18: 66,013,041 (GRCm39) |
D69G |
probably damaging |
Het |
| Hmbox1 |
A |
T |
14: 65,063,132 (GRCm39) |
L347Q |
probably damaging |
Het |
| Hsh2d |
C |
T |
8: 72,947,436 (GRCm39) |
|
probably benign |
Het |
| Itpr3 |
G |
A |
17: 27,333,897 (GRCm39) |
S2018N |
probably benign |
Het |
| Kif13b |
T |
A |
14: 64,951,566 (GRCm39) |
V69D |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lmcd1 |
T |
A |
6: 112,287,712 (GRCm39) |
|
probably benign |
Het |
| Megf9 |
C |
A |
4: 70,452,861 (GRCm39) |
A67S |
probably benign |
Het |
| Myo5b |
G |
A |
18: 74,758,658 (GRCm39) |
R213H |
probably damaging |
Het |
| Myo5c |
T |
A |
9: 75,193,730 (GRCm39) |
Y1162N |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,181,103 (GRCm39) |
|
probably benign |
Het |
| Ntrk1 |
G |
A |
3: 87,688,849 (GRCm39) |
T568I |
probably damaging |
Het |
| Pcmtd1 |
A |
G |
1: 7,190,705 (GRCm39) |
H58R |
probably damaging |
Het |
| Plaat5 |
A |
G |
19: 7,590,695 (GRCm39) |
D74G |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,174,091 (GRCm39) |
I1168N |
possibly damaging |
Het |
| Ppm1h |
A |
G |
10: 122,777,183 (GRCm39) |
D483G |
probably benign |
Het |
| Prdm15 |
G |
A |
16: 97,609,908 (GRCm39) |
R579C |
probably damaging |
Het |
| Prickle1 |
T |
A |
15: 93,410,342 (GRCm39) |
R41W |
probably damaging |
Het |
| Smco2 |
A |
G |
6: 146,772,638 (GRCm39) |
|
probably benign |
Het |
| Sned1 |
G |
C |
1: 93,208,298 (GRCm39) |
G785R |
probably damaging |
Het |
| Stat4 |
A |
G |
1: 52,123,288 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,013,298 (GRCm39) |
F2830I |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,963,200 (GRCm39) |
D304G |
possibly damaging |
Het |
| Thsd7a |
G |
A |
6: 12,471,026 (GRCm39) |
|
probably benign |
Het |
| Tmem63b |
T |
A |
17: 45,977,353 (GRCm39) |
K383N |
probably benign |
Het |
| Trp53rka |
C |
A |
2: 165,334,961 (GRCm39) |
|
probably benign |
Het |
| Trub1 |
G |
A |
19: 57,473,563 (GRCm39) |
V207M |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,690,886 (GRCm39) |
C551S |
possibly damaging |
Het |
| Urb1 |
A |
T |
16: 90,573,206 (GRCm39) |
|
probably null |
Het |
| Vmn1r219 |
C |
A |
13: 23,347,383 (GRCm39) |
Q191K |
probably damaging |
Het |
| Vmn2r1 |
A |
T |
3: 63,997,541 (GRCm39) |
D399V |
probably damaging |
Het |
| Vmn2r87 |
A |
G |
10: 130,312,098 (GRCm39) |
|
probably benign |
Het |
| Wars1 |
A |
T |
12: 108,854,291 (GRCm39) |
L41* |
probably null |
Het |
| Washc2 |
G |
A |
6: 116,201,495 (GRCm39) |
E64K |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,416,194 (GRCm39) |
R828Q |
probably damaging |
Het |
| Wdr59 |
A |
T |
8: 112,213,576 (GRCm39) |
M313K |
probably benign |
Het |
| Wscd2 |
G |
A |
5: 113,699,151 (GRCm39) |
|
probably null |
Het |
| Zdhhc20 |
A |
C |
14: 58,094,135 (GRCm39) |
L176V |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-01-15 |
Incidental Mutation