Incidental Mutation 'R4356:Rbm19'
| ID |
327542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm19
|
| Ensembl Gene |
ENSMUSG00000029594 |
| Gene Name |
RNA binding motif protein 19 |
| Synonyms |
1200009A02Rik |
| MMRRC Submission |
041669-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4356 (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 120278427 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 737
(T737A)
|
| 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: T737A
PolyPhen 2
Score 0.152 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000031590
Gene: ENSMUSG00000029594
AA Change: T737A
| 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 |
possibly damaging
Transcript: ENSMUST00000202777
AA Change: T737A
PolyPhen 2
Score 0.724 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000144339
Gene: ENSMUSG00000029594
AA Change: T737A
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
100% (58/58) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl2fm1 |
T |
A |
3: 59,843,701 (GRCm39) |
Y132N |
probably damaging |
Het |
| Adam21 |
T |
C |
12: 81,605,594 (GRCm39) |
T723A |
probably damaging |
Het |
| Alox5 |
C |
T |
6: 116,397,219 (GRCm39) |
V322I |
probably benign |
Het |
| Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
| Ankhd1 |
A |
T |
18: 36,776,096 (GRCm39) |
K1482* |
probably null |
Het |
| Cacna1e |
A |
C |
1: 154,319,727 (GRCm39) |
D1324E |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,392,213 (GRCm39) |
D657G |
probably damaging |
Het |
| Celsr1 |
A |
G |
15: 85,863,028 (GRCm39) |
S1335P |
probably damaging |
Het |
| Cfhr4 |
T |
A |
1: 139,660,048 (GRCm39) |
K621N |
probably damaging |
Het |
| Cspg5 |
A |
G |
9: 110,085,245 (GRCm39) |
D391G |
probably damaging |
Het |
| Defa30 |
A |
T |
8: 21,624,821 (GRCm39) |
D48V |
possibly damaging |
Het |
| E2f7 |
T |
C |
10: 110,595,712 (GRCm39) |
Y136H |
probably damaging |
Het |
| Fam3d |
A |
G |
14: 8,349,314 (GRCm38) |
L212P |
probably damaging |
Het |
| Fbxw25 |
A |
T |
9: 109,491,153 (GRCm39) |
C122S |
probably damaging |
Het |
| Fgg |
A |
T |
3: 82,920,250 (GRCm39) |
D343V |
probably damaging |
Het |
| Flnb |
T |
A |
14: 7,922,700 (GRCm38) |
M1712K |
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,588,683 (GRCm39) |
S485P |
probably damaging |
Het |
| Ftsj3 |
G |
A |
11: 106,144,502 (GRCm39) |
A134V |
probably benign |
Het |
| Gast |
C |
A |
11: 100,227,373 (GRCm39) |
S22Y |
probably damaging |
Het |
| Gm20834 |
T |
A |
Y: 10,322,962 (GRCm39) |
H158L |
possibly damaging |
Het |
| Ids |
C |
A |
X: 69,389,950 (GRCm39) |
G506C |
probably damaging |
Het |
| Ifna15 |
G |
T |
4: 88,476,079 (GRCm39) |
T135N |
probably benign |
Het |
| Igsf9b |
G |
A |
9: 27,220,774 (GRCm39) |
V47I |
possibly damaging |
Het |
| Impg2 |
C |
T |
16: 56,080,527 (GRCm39) |
T777I |
probably damaging |
Het |
| Kif11 |
C |
A |
19: 37,399,883 (GRCm39) |
T790K |
probably benign |
Het |
| Kif24 |
A |
G |
4: 41,413,827 (GRCm39) |
|
probably null |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lrp10 |
C |
T |
14: 54,705,823 (GRCm39) |
R338C |
probably damaging |
Het |
| Mib1 |
A |
G |
18: 10,751,844 (GRCm39) |
N242S |
probably benign |
Het |
| Nectin1 |
A |
G |
9: 43,703,802 (GRCm39) |
D264G |
probably benign |
Het |
| Nipsnap3a |
T |
C |
4: 52,995,979 (GRCm39) |
|
probably null |
Het |
| Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
| Or5w14 |
G |
A |
2: 87,542,229 (GRCm39) |
S7F |
possibly damaging |
Het |
| P3h4 |
A |
G |
11: 100,304,452 (GRCm39) |
F263S |
probably damaging |
Het |
| Pcdhga4 |
C |
T |
18: 37,820,664 (GRCm39) |
H738Y |
probably damaging |
Het |
| Prickle2 |
A |
T |
6: 92,388,490 (GRCm39) |
I304K |
probably damaging |
Het |
| Ptprq |
A |
T |
10: 107,444,225 (GRCm39) |
Y1460N |
probably damaging |
Het |
| Rbl2 |
A |
G |
8: 91,833,735 (GRCm39) |
D812G |
probably damaging |
Het |
| Rbsn |
G |
A |
6: 92,184,029 (GRCm39) |
L95F |
possibly damaging |
Het |
| Sall4 |
T |
C |
2: 168,597,400 (GRCm39) |
E480G |
probably benign |
Het |
| Scfd1 |
T |
A |
12: 51,486,068 (GRCm39) |
N541K |
probably benign |
Het |
| Scube3 |
G |
A |
17: 28,383,283 (GRCm39) |
G442S |
probably benign |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Smarcc1 |
A |
G |
9: 110,025,324 (GRCm39) |
D667G |
probably damaging |
Het |
| Sned1 |
A |
T |
1: 93,193,113 (GRCm39) |
|
probably null |
Het |
| Spsb1 |
T |
C |
4: 149,991,232 (GRCm39) |
H112R |
probably damaging |
Het |
| Sun3 |
A |
G |
11: 8,966,328 (GRCm39) |
V231A |
probably damaging |
Het |
| Vmn2r106 |
A |
T |
17: 20,499,910 (GRCm39) |
D108E |
probably benign |
Het |
| Xdh |
A |
G |
17: 74,222,685 (GRCm39) |
V560A |
probably benign |
Het |
| Zfp352 |
T |
A |
4: 90,112,071 (GRCm39) |
H70Q |
possibly damaging |
Het |
| Zfp40 |
C |
A |
17: 23,396,164 (GRCm39) |
C73F |
probably benign |
Het |
| Zfp975 |
A |
C |
7: 42,311,251 (GRCm39) |
L454R |
probably damaging |
Het |
| Zik1 |
A |
T |
7: 10,224,268 (GRCm39) |
C276* |
probably null |
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 |
|
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'- GTGAGTTTGCAGTGTCACCATG -3'
(R):5'- CCCACTTTGGAAAACACCTG -3'
Sequencing Primer
(F):5'- TGCAGTGTCACCATGTAACG -3'
(R):5'- CTTTGGAAAACACCTGCAAAAG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation