Incidental Mutation 'R5976:Rbm19'
ID |
471753 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm19
|
Ensembl Gene |
ENSMUSG00000029594 |
Gene Name |
RNA binding motif protein 19 |
Synonyms |
1200009A02Rik |
MMRRC Submission |
044158-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5976 (G1)
|
Quality Score |
224 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
120254578-120337036 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 120278372 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Arginine
at position 718
(S718R)
|
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: S718R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000031590 Gene: ENSMUSG00000029594 AA Change: S718R
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 benign
Transcript: ENSMUST00000202777
AA Change: S718R
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000144339 Gene: ENSMUSG00000029594 AA Change: S718R
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: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.2%
|
Validation Efficiency |
|
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankar |
T |
C |
1: 72,682,450 (GRCm39) |
T1154A |
probably benign |
Het |
Ankrd26 |
A |
T |
6: 118,494,855 (GRCm39) |
|
probably null |
Het |
Arih2 |
A |
T |
9: 108,485,172 (GRCm39) |
*54R |
probably null |
Het |
AW146154 |
T |
G |
7: 41,129,721 (GRCm39) |
K465T |
probably damaging |
Het |
Bend3 |
A |
G |
10: 43,386,540 (GRCm39) |
Y311C |
probably benign |
Het |
Bltp2 |
G |
A |
11: 78,174,955 (GRCm39) |
A1697T |
probably benign |
Het |
Ccdc110 |
A |
T |
8: 46,396,536 (GRCm39) |
Y809F |
possibly damaging |
Het |
Ccnh |
C |
T |
13: 85,338,982 (GRCm39) |
P76L |
probably damaging |
Het |
Chaf1a |
T |
A |
17: 56,371,115 (GRCm39) |
C667S |
probably damaging |
Het |
Clca3a1 |
A |
T |
3: 144,452,636 (GRCm39) |
Y616N |
probably damaging |
Het |
Cldn4 |
A |
G |
5: 134,975,410 (GRCm39) |
C64R |
probably damaging |
Het |
Crybg2 |
TGGAGGAGGAGGAGGAGGAG |
TGGAGGAGGAGGAGGAG |
4: 133,801,837 (GRCm39) |
|
probably benign |
Het |
Dclk2 |
C |
A |
3: 86,694,532 (GRCm39) |
R752L |
possibly damaging |
Het |
Dzank1 |
C |
A |
2: 144,343,409 (GRCm39) |
G318W |
probably damaging |
Het |
Edem1 |
T |
A |
6: 108,819,923 (GRCm39) |
I236K |
probably damaging |
Het |
Eif4e1b |
T |
C |
13: 54,932,635 (GRCm39) |
F75L |
probably damaging |
Het |
Elmo3 |
A |
G |
8: 106,034,279 (GRCm39) |
Y266C |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,092,773 (GRCm39) |
S509P |
probably damaging |
Het |
Exoc8 |
A |
G |
8: 125,623,392 (GRCm39) |
M325T |
probably benign |
Het |
Fah |
A |
G |
7: 84,243,949 (GRCm39) |
M270T |
probably benign |
Het |
Gabbr1 |
T |
C |
17: 37,378,754 (GRCm39) |
L532P |
probably damaging |
Het |
Gm10770 |
T |
A |
2: 150,021,320 (GRCm39) |
K66* |
probably null |
Het |
Gprc5c |
A |
T |
11: 114,755,313 (GRCm39) |
Q330L |
possibly damaging |
Het |
Grin3a |
T |
A |
4: 49,792,602 (GRCm39) |
H377L |
probably damaging |
Het |
Hipk3 |
T |
C |
2: 104,301,529 (GRCm39) |
E221G |
probably damaging |
Het |
Hsd17b6 |
T |
A |
10: 127,827,308 (GRCm39) |
M255L |
probably benign |
Het |
Ighv1-7 |
T |
A |
12: 114,502,379 (GRCm39) |
E29D |
probably benign |
Het |
Ing3 |
T |
A |
6: 21,971,173 (GRCm39) |
S326T |
probably benign |
Het |
Ipo7 |
T |
C |
7: 109,648,014 (GRCm39) |
L632P |
probably damaging |
Het |
Kdm6b |
A |
G |
11: 69,294,614 (GRCm39) |
|
probably null |
Het |
Kif21a |
T |
G |
15: 90,820,015 (GRCm39) |
D1583A |
probably damaging |
Het |
Lama2 |
C |
T |
10: 27,066,672 (GRCm39) |
V1070I |
probably benign |
Het |
Lrp1 |
A |
T |
10: 127,419,770 (GRCm39) |
S946R |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,389,897 (GRCm39) |
S1843P |
possibly damaging |
Het |
Ltbp1 |
T |
C |
17: 75,597,078 (GRCm39) |
Y517H |
probably damaging |
Het |
Map2k4 |
T |
A |
11: 65,600,778 (GRCm39) |
N51I |
probably benign |
Het |
Mfsd2b |
G |
T |
12: 4,916,522 (GRCm39) |
A216D |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,761,268 (GRCm39) |
T2025A |
probably benign |
Het |
Neb |
A |
G |
2: 52,106,928 (GRCm39) |
V4162A |
possibly damaging |
Het |
Nr3c1 |
A |
T |
18: 39,554,602 (GRCm39) |
F599I |
probably damaging |
Het |
Nsun2 |
T |
G |
13: 69,771,271 (GRCm39) |
|
probably null |
Het |
Or10ab4 |
T |
A |
7: 107,655,005 (GRCm39) |
M272K |
possibly damaging |
Het |
Or8b37 |
G |
T |
9: 37,958,997 (GRCm39) |
V160F |
possibly damaging |
Het |
Otoa |
T |
A |
7: 120,726,936 (GRCm39) |
W524R |
probably benign |
Het |
Paip1 |
T |
A |
13: 119,593,533 (GRCm39) |
D182E |
probably damaging |
Het |
Pde1a |
G |
A |
2: 79,698,586 (GRCm39) |
Q415* |
probably null |
Het |
Pfkfb2 |
T |
A |
1: 130,635,816 (GRCm39) |
K72* |
probably null |
Het |
Pigg |
A |
G |
5: 108,480,057 (GRCm39) |
E444G |
probably null |
Het |
Plec |
T |
C |
15: 76,073,237 (GRCm39) |
Y669C |
probably damaging |
Het |
Ptp4a3 |
T |
C |
15: 73,627,885 (GRCm39) |
V94A |
possibly damaging |
Het |
Ptprg |
A |
G |
14: 12,211,625 (GRCm38) |
E969G |
probably damaging |
Het |
R3hcc1l |
T |
A |
19: 42,551,789 (GRCm39) |
V262E |
probably benign |
Het |
Ranbp3l |
T |
G |
15: 9,030,916 (GRCm39) |
F65C |
possibly damaging |
Het |
Recql4 |
C |
A |
15: 76,593,624 (GRCm39) |
R162L |
probably benign |
Het |
Rest |
T |
C |
5: 77,416,119 (GRCm39) |
L111P |
probably benign |
Het |
Rgma |
T |
C |
7: 73,059,216 (GRCm39) |
S13P |
probably damaging |
Het |
Rogdi |
T |
A |
16: 4,831,175 (GRCm39) |
I31F |
probably benign |
Het |
Serpinb9e |
T |
A |
13: 33,439,112 (GRCm39) |
D179E |
probably benign |
Het |
Slc1a5 |
T |
C |
7: 16,529,807 (GRCm39) |
C409R |
probably damaging |
Het |
Slc25a38 |
A |
G |
9: 119,945,613 (GRCm39) |
T38A |
probably damaging |
Het |
Spag17 |
C |
T |
3: 100,003,107 (GRCm39) |
Q1897* |
probably null |
Het |
St7 |
C |
A |
6: 17,694,221 (GRCm39) |
A4E |
possibly damaging |
Het |
Tbcel |
T |
A |
9: 42,350,499 (GRCm39) |
I263F |
possibly damaging |
Het |
Tmtc3 |
A |
G |
10: 100,312,534 (GRCm39) |
V103A |
probably benign |
Het |
Tnc |
G |
A |
4: 63,936,403 (GRCm39) |
P178S |
probably benign |
Het |
Vwf |
A |
G |
6: 125,580,426 (GRCm39) |
D558G |
|
Het |
Zfp541 |
A |
G |
7: 15,810,344 (GRCm39) |
K127R |
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 |
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 |
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'- CAGCATCTCAGGACCCCTTTAATC -3'
(R):5'- AGCCACTACTGGTCCCTTAC -3'
Sequencing Primer
(F):5'- GGACCCCTTTAATCTAGCAAGTTTTG -3'
(R):5'- ACTGGTCCCTTACGTGAACCAG -3'
|
Posted On |
2017-03-31 |