Incidental Mutation 'R5878:Rbm19'
ID |
455648 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm19
|
Ensembl Gene |
ENSMUSG00000029594 |
Gene Name |
RNA binding motif protein 19 |
Synonyms |
1200009A02Rik |
MMRRC Submission |
044084-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5878 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120270932 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 585
(V585E)
|
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: V585E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000031590 Gene: ENSMUSG00000029594 AA Change: V585E
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: V585E
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000144339 Gene: ENSMUSG00000029594 AA Change: V585E
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 |
0.7517 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
99% (66/67) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
A |
T |
1: 71,385,792 (GRCm39) |
N275K |
possibly damaging |
Het |
Abhd6 |
G |
A |
14: 8,028,286 (GRCm38) |
V6I |
probably benign |
Het |
Afap1l2 |
T |
C |
19: 56,904,107 (GRCm39) |
T727A |
probably benign |
Het |
Aggf1 |
T |
C |
13: 95,506,065 (GRCm39) |
E174G |
probably benign |
Het |
Ahnak |
T |
G |
19: 8,985,706 (GRCm39) |
L2330R |
probably damaging |
Het |
Arb2a |
T |
A |
13: 78,100,186 (GRCm39) |
V129E |
probably damaging |
Het |
Arfgef2 |
A |
G |
2: 166,712,137 (GRCm39) |
T1205A |
probably benign |
Het |
Ccdc3 |
T |
C |
2: 5,233,827 (GRCm39) |
L217P |
probably benign |
Het |
Cfap54 |
T |
C |
10: 92,800,423 (GRCm39) |
D1595G |
probably benign |
Het |
Cps1 |
G |
T |
1: 67,197,037 (GRCm39) |
|
probably null |
Het |
Fam120b |
A |
G |
17: 15,622,502 (GRCm39) |
D160G |
probably damaging |
Het |
Fezf1 |
C |
A |
6: 23,247,580 (GRCm39) |
R165L |
possibly damaging |
Het |
Fkbp15 |
A |
T |
4: 62,225,145 (GRCm39) |
L838H |
probably benign |
Het |
Frmd3 |
G |
A |
4: 74,071,847 (GRCm39) |
G243D |
probably damaging |
Het |
Gldc |
A |
T |
19: 30,120,867 (GRCm39) |
|
probably null |
Het |
Gm10188 |
T |
C |
1: 132,156,940 (GRCm39) |
|
probably benign |
Het |
Gm5190 |
T |
A |
12: 113,360,859 (GRCm39) |
|
noncoding transcript |
Het |
Gria1 |
T |
C |
11: 57,208,628 (GRCm39) |
|
probably null |
Het |
Hdhd5 |
A |
G |
6: 120,491,485 (GRCm39) |
L206P |
probably damaging |
Het |
Herc2 |
A |
G |
7: 55,773,996 (GRCm39) |
N1149S |
probably benign |
Het |
Inca1 |
G |
A |
11: 70,586,808 (GRCm39) |
|
probably benign |
Het |
Iqch |
G |
A |
9: 63,455,272 (GRCm39) |
S175F |
probably damaging |
Het |
Itpr3 |
T |
G |
17: 27,329,836 (GRCm39) |
D1543E |
probably benign |
Het |
Khk |
T |
A |
5: 31,088,219 (GRCm39) |
|
probably null |
Het |
Kiz |
C |
T |
2: 146,731,521 (GRCm39) |
S337L |
probably damaging |
Het |
Lzts3 |
G |
A |
2: 130,478,459 (GRCm39) |
T213I |
probably damaging |
Het |
Mab21l2 |
T |
A |
3: 86,454,025 (GRCm39) |
D325V |
probably damaging |
Het |
Mctp2 |
A |
G |
7: 71,863,856 (GRCm39) |
S336P |
probably benign |
Het |
Me3 |
T |
A |
7: 89,497,214 (GRCm39) |
L405Q |
probably benign |
Het |
Mgst2 |
A |
T |
3: 51,568,651 (GRCm39) |
|
probably benign |
Het |
Myh2 |
A |
G |
11: 67,083,330 (GRCm39) |
E1431G |
probably damaging |
Het |
Naip6 |
A |
G |
13: 100,436,181 (GRCm39) |
S781P |
probably damaging |
Het |
Nr3c2 |
A |
G |
8: 77,634,897 (GRCm39) |
|
probably null |
Het |
Or10ab5 |
A |
T |
7: 108,244,946 (GRCm39) |
L279Q |
probably damaging |
Het |
Or6s1 |
A |
G |
14: 51,308,449 (GRCm39) |
Y134H |
probably damaging |
Het |
Or6x1 |
C |
T |
9: 40,098,867 (GRCm39) |
T152I |
probably benign |
Het |
Otop1 |
G |
T |
5: 38,435,166 (GRCm39) |
R132L |
possibly damaging |
Het |
Parg |
T |
A |
14: 31,939,619 (GRCm39) |
D548E |
possibly damaging |
Het |
Pcdhga4 |
G |
T |
18: 37,820,739 (GRCm39) |
G763W |
probably benign |
Het |
Pde10a |
A |
G |
17: 9,168,204 (GRCm39) |
N9S |
possibly damaging |
Het |
Pi4k2a |
T |
C |
19: 42,089,080 (GRCm39) |
I147T |
probably benign |
Het |
Polh |
T |
A |
17: 46,505,251 (GRCm39) |
T122S |
probably damaging |
Het |
Ptpn13 |
T |
C |
5: 103,624,984 (GRCm39) |
V96A |
possibly damaging |
Het |
Ptpn6 |
C |
A |
6: 124,705,748 (GRCm39) |
C132F |
probably damaging |
Het |
Relch |
T |
A |
1: 105,620,685 (GRCm39) |
S387T |
probably benign |
Het |
Rp1l1 |
C |
T |
14: 64,266,355 (GRCm39) |
P647L |
probably benign |
Het |
Rrp1b |
A |
G |
17: 32,266,649 (GRCm39) |
E72G |
probably damaging |
Het |
Shcbp1 |
A |
T |
8: 4,798,742 (GRCm39) |
H392Q |
probably benign |
Het |
Skic2 |
C |
T |
17: 35,065,093 (GRCm39) |
R371Q |
possibly damaging |
Het |
Slc13a5 |
G |
A |
11: 72,144,217 (GRCm39) |
T287I |
possibly damaging |
Het |
Slc22a27 |
T |
A |
19: 7,904,122 (GRCm39) |
E5V |
probably benign |
Het |
Slc38a2 |
A |
G |
15: 96,590,465 (GRCm39) |
V293A |
probably damaging |
Het |
Slco6d1 |
T |
A |
1: 98,391,561 (GRCm39) |
|
probably benign |
Het |
Sri |
G |
C |
5: 8,109,353 (GRCm39) |
D46H |
probably damaging |
Het |
Tango6 |
A |
G |
8: 107,415,800 (GRCm39) |
D207G |
possibly damaging |
Het |
Tigd4 |
T |
C |
3: 84,501,749 (GRCm39) |
M222T |
probably benign |
Het |
Tmem229a |
T |
C |
6: 24,955,172 (GRCm39) |
D194G |
probably benign |
Het |
Trank1 |
T |
C |
9: 111,195,753 (GRCm39) |
V1259A |
possibly damaging |
Het |
Trdv5 |
T |
C |
14: 54,386,255 (GRCm39) |
D70G |
probably benign |
Het |
Trim52 |
T |
A |
14: 106,344,375 (GRCm39) |
M11K |
probably damaging |
Het |
Wdr62 |
A |
G |
7: 29,940,772 (GRCm39) |
M882T |
probably benign |
Het |
Ybx3 |
A |
G |
6: 131,344,726 (GRCm39) |
|
probably null |
Het |
Zfand2b |
A |
G |
1: 75,147,154 (GRCm39) |
|
probably benign |
Het |
Zfp91 |
T |
A |
19: 12,747,684 (GRCm39) |
T480S |
possibly 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 |
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'- AAGCGTATTTGCTAGGAGCCC -3'
(R):5'- GGGGCAACTCTAACTCTTGGAG -3'
Sequencing Primer
(F):5'- ATTTGCTAGGAGCCCGAATG -3'
(R):5'- CCATACCTTAGAATAGGCCAGGTG -3'
|
Posted On |
2017-02-10 |