Incidental Mutation 'R5857:Rbm19'
| ID |
454950 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
044069-MU
|
| Accession Numbers |
Genbank: NM_028762 ; MGI: 1921361 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5857 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120116465-120198981 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120132942 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 610
(L610Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000031590
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031590]
[ENSMUST00000202777]
|
| AlphaFold |
Q8R3C6 |
| PDB Structure |
Solution structure of the N-terminal RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the second RNA binding domain from hypothetical protein BAB23448 [SOLUTION NMR]
Solution structure of the penultimate RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
Solution structure of the C-terminal RNA recognition motif of hypothetical RNA-binding protein RBM19 [SOLUTION NMR]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031590
AA Change: L610Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: L610Q
| 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: L610Q
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: L610Q
| 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 |
0.9552 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.6%
|
| Validation Efficiency |
95% (55/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030K09Rik |
A |
G |
8: 72,449,525 (GRCm38) |
I266V |
probably benign |
Het |
| Anks6 |
C |
T |
4: 47,039,736 (GRCm38) |
A492T |
possibly damaging |
Het |
| Ano1 |
A |
T |
7: 144,637,103 (GRCm38) |
C415S |
probably benign |
Het |
| Anxa3 |
T |
A |
5: 96,828,792 (GRCm38) |
|
probably null |
Het |
| Apob |
T |
C |
12: 8,015,397 (GRCm38) |
V4089A |
probably benign |
Het |
| Arhgap23 |
C |
T |
11: 97,451,579 (GRCm38) |
A229V |
possibly damaging |
Het |
| Atad5 |
T |
C |
11: 80,131,329 (GRCm38) |
F1447L |
probably benign |
Het |
| Btbd8 |
T |
A |
5: 107,461,532 (GRCm38) |
D212E |
probably damaging |
Het |
| Ccdc38 |
G |
T |
10: 93,562,833 (GRCm38) |
A58S |
possibly damaging |
Het |
| Cep112 |
T |
C |
11: 108,531,471 (GRCm38) |
|
probably benign |
Het |
| Col4a2 |
G |
A |
8: 11,425,442 (GRCm38) |
G622D |
probably damaging |
Het |
| Crhbp |
T |
A |
13: 95,442,232 (GRCm38) |
Q134L |
probably benign |
Het |
| Ctnnbl1 |
T |
C |
2: 157,789,098 (GRCm38) |
S145P |
probably damaging |
Het |
| Cyp4f16 |
T |
A |
17: 32,537,024 (GRCm38) |
L9Q |
probably damaging |
Het |
| Dchs2 |
T |
G |
3: 83,270,313 (GRCm38) |
I891S |
possibly damaging |
Het |
| Disp3 |
A |
T |
4: 148,249,183 (GRCm38) |
V1066D |
probably benign |
Het |
| Dlgap1 |
A |
G |
17: 70,815,393 (GRCm38) |
|
probably benign |
Het |
| Dnah3 |
TTCCTC |
TTC |
7: 119,951,021 (GRCm38) |
|
probably benign |
Het |
| Efl1 |
T |
A |
7: 82,763,189 (GRCm38) |
C929S |
probably benign |
Het |
| Fam129b |
T |
A |
2: 32,909,908 (GRCm38) |
N82K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,575,932 (GRCm38) |
F82S |
probably damaging |
Het |
| Gk5 |
C |
A |
9: 96,119,455 (GRCm38) |
S2* |
probably null |
Het |
| Gpr135 |
G |
A |
12: 72,070,840 (GRCm38) |
A51V |
probably benign |
Het |
| Hoxa9 |
T |
A |
6: 52,224,297 (GRCm38) |
N255Y |
probably damaging |
Het |
| Igkv8-18 |
T |
C |
6: 70,355,920 (GRCm38) |
V15A |
probably benign |
Het |
| Ism2 |
T |
C |
12: 87,280,061 (GRCm38) |
D368G |
probably damaging |
Het |
| Krtap6-2 |
A |
T |
16: 89,419,642 (GRCm38) |
S146T |
unknown |
Het |
| Lama1 |
T |
A |
17: 67,807,843 (GRCm38) |
L2329H |
probably damaging |
Het |
| Llgl2 |
T |
A |
11: 115,850,281 (GRCm38) |
I507N |
probably damaging |
Het |
| Lmna |
GCTGCCCACAC |
GC |
3: 88,482,531 (GRCm38) |
|
probably benign |
Het |
| Lrfn3 |
A |
T |
7: 30,359,438 (GRCm38) |
I454N |
possibly damaging |
Het |
| Mdn1 |
C |
A |
4: 32,670,646 (GRCm38) |
T437K |
probably benign |
Het |
| Nat8f3 |
T |
C |
6: 85,761,753 (GRCm38) |
Y9C |
probably damaging |
Het |
| Nlrp4d |
C |
A |
7: 10,382,377 (GRCm38) |
G156V |
noncoding transcript |
Het |
| Npnt |
A |
T |
3: 132,908,349 (GRCm38) |
C167S |
probably damaging |
Het |
| Nr3c2 |
A |
G |
8: 76,908,867 (GRCm38) |
N199S |
possibly damaging |
Het |
| Olfr248 |
T |
G |
1: 174,391,108 (GRCm38) |
I13R |
possibly damaging |
Het |
| Olfr870 |
C |
T |
9: 20,171,239 (GRCm38) |
D111N |
probably damaging |
Het |
| Olfr884 |
T |
G |
9: 38,047,753 (GRCm38) |
V177G |
probably benign |
Het |
| Pabpc1l |
T |
A |
2: 164,044,255 (GRCm38) |
|
probably null |
Het |
| Pi4ka |
A |
G |
16: 17,358,984 (GRCm38) |
I366T |
probably benign |
Het |
| Prl7a1 |
A |
T |
13: 27,640,701 (GRCm38) |
D50E |
probably damaging |
Het |
| Rad52 |
T |
G |
6: 119,911,007 (GRCm38) |
|
probably null |
Het |
| Rnd2 |
C |
T |
11: 101,468,999 (GRCm38) |
L57F |
probably damaging |
Het |
| Scube1 |
G |
T |
15: 83,607,260 (GRCm38) |
|
probably benign |
Het |
| Sptbn4 |
G |
T |
7: 27,418,713 (GRCm38) |
R314S |
possibly damaging |
Het |
| Togaram1 |
T |
A |
12: 64,995,557 (GRCm38) |
I1130K |
possibly damaging |
Het |
| Tsc2 |
T |
C |
17: 24,600,007 (GRCm38) |
E1352G |
probably damaging |
Het |
| Ube2d2a |
A |
G |
18: 35,805,543 (GRCm38) |
T142A |
probably benign |
Het |
| Vps18 |
T |
C |
2: 119,297,533 (GRCm38) |
Y946H |
probably damaging |
Het |
|
| Other mutations in Rbm19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01443:Rbm19
|
APN |
5 |
120,143,438 (GRCm38) |
splice site |
probably benign |
|
|
IGL01750:Rbm19
|
APN |
5 |
120,118,792 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL01830:Rbm19
|
APN |
5 |
120,124,695 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
IGL02028:Rbm19
|
APN |
5 |
120,120,236 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02262:Rbm19
|
APN |
5 |
120,143,405 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03030:Rbm19
|
APN |
5 |
120,131,246 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03094:Rbm19
|
APN |
5 |
120,122,958 (GRCm38) |
missense |
probably damaging |
1.00 |
|
N/A:Rbm19
|
UTSW |
5 |
120,144,097 (GRCm38) |
missense |
probably damaging |
0.99 |
|
PIT4812001:Rbm19
|
UTSW |
5 |
120,128,250 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R0190:Rbm19
|
UTSW |
5 |
120,144,046 (GRCm38) |
missense |
probably benign |
0.30 |
|
R0350:Rbm19
|
UTSW |
5 |
120,128,307 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R0594:Rbm19
|
UTSW |
5 |
120,128,316 (GRCm38) |
critical splice donor site |
probably null |
|
|
R0924:Rbm19
|
UTSW |
5 |
120,126,204 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0930:Rbm19
|
UTSW |
5 |
120,126,204 (GRCm38) |
missense |
probably benign |
0.11 |
|
R0963:Rbm19
|
UTSW |
5 |
120,130,734 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R1144:Rbm19
|
UTSW |
5 |
120,123,016 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R1438:Rbm19
|
UTSW |
5 |
120,122,896 (GRCm38) |
missense |
probably benign |
0.01 |
|
R1441:Rbm19
|
UTSW |
5 |
120,131,176 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1458:Rbm19
|
UTSW |
5 |
120,144,029 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1518:Rbm19
|
UTSW |
5 |
120,140,280 (GRCm38) |
small deletion |
probably benign |
|
|
R1992:Rbm19
|
UTSW |
5 |
120,133,883 (GRCm38) |
critical splice donor site |
probably null |
|
|
R2029:Rbm19
|
UTSW |
5 |
120,120,242 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R3055:Rbm19
|
UTSW |
5 |
120,133,010 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4356:Rbm19
|
UTSW |
5 |
120,140,362 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
R4808:Rbm19
|
UTSW |
5 |
120,118,774 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R4817:Rbm19
|
UTSW |
5 |
120,133,734 (GRCm38) |
intron |
probably benign |
|
|
R4857:Rbm19
|
UTSW |
5 |
120,132,833 (GRCm38) |
splice site |
probably benign |
|
|
R4963:Rbm19
|
UTSW |
5 |
120,141,566 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5812:Rbm19
|
UTSW |
5 |
120,141,577 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5878:Rbm19
|
UTSW |
5 |
120,132,867 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5976:Rbm19
|
UTSW |
5 |
120,140,307 (GRCm38) |
missense |
probably benign |
0.01 |
|
R6345:Rbm19
|
UTSW |
5 |
120,127,040 (GRCm38) |
missense |
possibly damaging |
0.87 |
|
R6489:Rbm19
|
UTSW |
5 |
120,120,130 (GRCm38) |
missense |
probably benign |
0.06 |
|
R6495:Rbm19
|
UTSW |
5 |
120,119,680 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7081:Rbm19
|
UTSW |
5 |
120,123,151 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7181:Rbm19
|
UTSW |
5 |
120,116,467 (GRCm38) |
unclassified |
probably benign |
|
|
R7307:Rbm19
|
UTSW |
5 |
120,186,218 (GRCm38) |
missense |
possibly damaging |
0.55 |
|
R8058:Rbm19
|
UTSW |
5 |
120,140,375 (GRCm38) |
critical splice donor site |
probably null |
|
|
R8432:Rbm19
|
UTSW |
5 |
120,175,926 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8696:Rbm19
|
UTSW |
5 |
120,127,067 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R8910:Rbm19
|
UTSW |
5 |
120,133,779 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9261:Rbm19
|
UTSW |
5 |
120,118,745 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9424:Rbm19
|
UTSW |
5 |
120,140,280 (GRCm38) |
small deletion |
probably benign |
|
|
R9507:Rbm19
|
UTSW |
5 |
120,127,167 (GRCm38) |
critical splice donor site |
probably null |
|
|
R9695:Rbm19
|
UTSW |
5 |
120,197,921 (GRCm38) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGCTGAGGTCACCTTTCTG -3'
(R):5'- CCTGGGAAACTCATATCTGCTG -3'
Sequencing Primer
(F):5'- GCTGAGGTCACCTTTCTGTTGTC -3'
(R):5'- AGGTACAGCCGTAATGCCC -3'
|
| Posted On |
2017-02-10 |
Incidental Mutation