Incidental Mutation 'R8910:Rbm19'
| ID |
678544 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
068701-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8910 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 120271844 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 650
(Y650N)
|
| 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: Y650N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: Y650N
| 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 |
probably damaging
Transcript: ENSMUST00000202777
AA Change: Y650N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: Y650N
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
100% (62/62) |
| 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 |
|---|
| 2210408I21Rik |
A |
G |
13: 77,471,768 (GRCm39) |
I1058V |
probably benign |
Het |
| Abca5 |
T |
C |
11: 110,189,030 (GRCm39) |
E809G |
probably damaging |
Het |
| Akap12 |
A |
T |
10: 4,263,822 (GRCm39) |
Q77L |
probably benign |
Het |
| Aldh5a1 |
A |
G |
13: 25,102,599 (GRCm39) |
V288A |
probably damaging |
Het |
| Alox5 |
C |
A |
6: 116,389,510 (GRCm39) |
E586* |
probably null |
Het |
| Anxa2r1 |
T |
A |
13: 120,508,356 (GRCm39) |
|
probably benign |
Het |
| Arid5b |
A |
G |
10: 67,934,108 (GRCm39) |
F598S |
|
Het |
| Btc |
A |
C |
5: 91,508,671 (GRCm39) |
M157R |
probably benign |
Het |
| Cadps2 |
T |
C |
6: 23,344,223 (GRCm39) |
N908S |
probably benign |
Het |
| Cd244a |
C |
A |
1: 171,386,941 (GRCm39) |
H17N |
probably damaging |
Het |
| Cdh15 |
T |
C |
8: 123,575,240 (GRCm39) |
L5P |
probably benign |
Het |
| Cep15 |
A |
G |
14: 12,285,444 (GRCm38) |
H10R |
probably benign |
Het |
| Cept1 |
A |
C |
3: 106,446,565 (GRCm39) |
S94A |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,632,497 (GRCm39) |
M507T |
probably benign |
Het |
| Cpne4 |
A |
G |
9: 104,799,706 (GRCm39) |
|
probably benign |
Het |
| Dffb |
T |
C |
4: 154,057,416 (GRCm39) |
D87G |
possibly damaging |
Het |
| Dlgap1 |
C |
T |
17: 71,093,815 (GRCm39) |
T712I |
probably damaging |
Het |
| Dnhd1 |
A |
C |
7: 105,332,904 (GRCm39) |
H155P |
possibly damaging |
Het |
| Dpyd |
A |
G |
3: 118,404,167 (GRCm39) |
K38R |
probably benign |
Het |
| Evx1 |
C |
T |
6: 52,293,746 (GRCm39) |
R305C |
probably damaging |
Het |
| Ezr |
A |
G |
17: 7,023,299 (GRCm39) |
L47P |
probably damaging |
Het |
| Fabp6 |
C |
T |
11: 43,492,335 (GRCm39) |
A2T |
possibly damaging |
Het |
| Fam78a |
G |
A |
2: 31,959,681 (GRCm39) |
T143M |
probably damaging |
Het |
| Fam83h |
C |
T |
15: 75,874,844 (GRCm39) |
G831D |
probably benign |
Het |
| Fermt2 |
G |
A |
14: 45,702,389 (GRCm39) |
A465V |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,715,855 (GRCm39) |
S358P |
probably benign |
Het |
| Frem1 |
C |
A |
4: 82,868,694 (GRCm39) |
G1429V |
probably benign |
Het |
| Fst |
T |
A |
13: 114,590,245 (GRCm39) |
|
probably benign |
Het |
| Gfpt1 |
T |
C |
6: 87,030,787 (GRCm39) |
I57T |
probably benign |
Het |
| Gimap6 |
A |
G |
6: 48,679,388 (GRCm39) |
I216T |
probably damaging |
Het |
| Gm10267 |
T |
A |
18: 44,289,511 (GRCm39) |
N73I |
possibly damaging |
Het |
| H2-M2 |
G |
A |
17: 37,792,413 (GRCm39) |
T286I |
probably damaging |
Het |
| Hgs |
T |
C |
11: 120,369,202 (GRCm39) |
|
probably null |
Het |
| Klra6 |
T |
C |
6: 129,993,647 (GRCm39) |
E208G |
probably benign |
Het |
| L3mbtl1 |
A |
T |
2: 162,812,213 (GRCm39) |
T753S |
probably benign |
Het |
| Larp6 |
A |
G |
9: 60,620,526 (GRCm39) |
E13G |
probably benign |
Het |
| Mroh2b |
A |
G |
15: 4,960,855 (GRCm39) |
I806V |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,468,009 (GRCm39) |
N142S |
possibly damaging |
Het |
| Myo3a |
A |
G |
2: 22,464,280 (GRCm39) |
T1112A |
probably benign |
Het |
| Or4b1b |
C |
A |
2: 90,126,848 (GRCm39) |
R119L |
possibly damaging |
Het |
| Pelp1 |
A |
T |
11: 70,287,461 (GRCm39) |
M449K |
probably damaging |
Het |
| Ppp4r1 |
T |
C |
17: 66,144,768 (GRCm39) |
V795A |
probably damaging |
Het |
| Ppp4r3b |
G |
T |
11: 29,146,290 (GRCm39) |
M372I |
probably null |
Het |
| Ptprk |
T |
C |
10: 28,368,993 (GRCm39) |
V655A |
possibly damaging |
Het |
| Rad51d |
T |
C |
11: 82,773,793 (GRCm39) |
R166G |
probably damaging |
Het |
| Rreb1 |
A |
G |
13: 38,132,741 (GRCm39) |
K204E |
|
Het |
| Ryr1 |
A |
G |
7: 28,771,340 (GRCm39) |
L2567P |
probably damaging |
Het |
| Scn3a |
T |
A |
2: 65,338,883 (GRCm39) |
S599C |
probably damaging |
Het |
| Slc7a15 |
T |
A |
12: 8,589,117 (GRCm39) |
|
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,182,716 (GRCm39) |
T12A |
probably benign |
Het |
| Tbc1d10b |
T |
C |
7: 126,806,938 (GRCm39) |
T200A |
probably benign |
Het |
| Tex21 |
C |
T |
12: 76,263,533 (GRCm39) |
|
probably benign |
Het |
| Thap4 |
T |
C |
1: 93,642,666 (GRCm39) |
H515R |
probably damaging |
Het |
| Tmem94 |
A |
G |
11: 115,688,252 (GRCm39) |
Q1237R |
probably damaging |
Het |
| Tppp3 |
A |
G |
8: 106,194,924 (GRCm39) |
V69A |
probably benign |
Het |
| Unc5a |
A |
G |
13: 55,151,401 (GRCm39) |
E695G |
possibly damaging |
Het |
| Wtip |
G |
A |
7: 33,832,063 (GRCm39) |
P141L |
possibly damaging |
Het |
| Wwp1 |
A |
T |
4: 19,627,741 (GRCm39) |
M718K |
possibly damaging |
Het |
| Zbtb25 |
A |
C |
12: 76,395,908 (GRCm39) |
V438G |
probably damaging |
Het |
| Zfp444 |
T |
C |
7: 6,187,026 (GRCm39) |
L46P |
probably damaging |
Het |
| Zfp521 |
T |
C |
18: 13,977,233 (GRCm39) |
H1060R |
probably benign |
Het |
| Zkscan14 |
A |
G |
5: 145,132,190 (GRCm39) |
F447S |
probably damaging |
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 |
|
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 |
|
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'- ACATTAGTGTCTGCGGGCTC -3'
(R):5'- AGTGGCCTAATGACAGTCTCC -3'
Sequencing Primer
(F):5'- CTCAGGTACCTGGTTGTACAGAG -3'
(R):5'- GCCTAATGACAGTCTCCCCCAC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation