Incidental Mutation 'R4001:Rbms2'
| ID |
312482 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbms2
|
| Ensembl Gene |
ENSMUSG00000040043 |
| Gene Name |
RNA binding motif, single stranded interacting protein 2 |
| Synonyms |
Scr3, 2610315E04Rik |
| MMRRC Submission |
040844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.188)
|
| Stock # |
R4001 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
127967427-128016166 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127987169 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Asparagine
at position 13
(S13N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096742
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000092033]
[ENSMUST00000099139]
|
| AlphaFold |
Q8VC70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092033
AA Change: S41N
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000089664
Gene: ENSMUSG00000040043
AA Change: S41N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
41 |
51 |
N/A |
INTRINSIC |
|
RRM
|
59 |
127 |
3.35e-16 |
SMART |
|
RRM
|
138 |
209 |
1.94e-12 |
SMART |
|
low complexity region
|
347 |
359 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099139
AA Change: S13N
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000096742
Gene: ENSMUSG00000040043
AA Change: S13N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
23 |
N/A |
INTRINSIC |
|
RRM
|
31 |
99 |
3.35e-16 |
SMART |
|
RRM
|
110 |
181 |
1.94e-12 |
SMART |
|
low complexity region
|
319 |
331 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.6%
|
| Validation Efficiency |
100% (28/28) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of a small family of proteins which bind single stranded DNA/RNA. These proteins are characterized by the presence of two sets of ribonucleoprotein consensus sequence (RNP-CS) that contain conserved motifs, RNP1 and RNP2, originally described in RNA binding proteins, and required for DNA binding. The RBMS proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. This protein was isolated by phenotypic complementation of cdc2 and cdc13 mutants of yeast and is thought to suppress cdc2 and cdc13 mutants through the induction of translation of cdc2. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
C |
A |
8: 111,768,234 (GRCm39) |
H202N |
probably damaging |
Het |
| Aipl1 |
T |
A |
11: 71,922,428 (GRCm39) |
T94S |
probably damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,866,079 (GRCm39) |
E293V |
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,683,185 (GRCm39) |
R542C |
probably damaging |
Het |
| Clip4 |
A |
T |
17: 72,106,071 (GRCm39) |
I85L |
probably damaging |
Het |
| Cntnap5c |
G |
A |
17: 58,714,735 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
G |
2: 125,319,415 (GRCm39) |
|
probably null |
Het |
| Hivep2 |
A |
G |
10: 14,003,476 (GRCm39) |
R25G |
probably damaging |
Het |
| Klhdc7b |
A |
G |
15: 89,272,187 (GRCm39) |
N1023S |
probably damaging |
Het |
| Lipi |
T |
A |
16: 75,370,759 (GRCm39) |
R153* |
probably null |
Het |
| Lpcat4 |
A |
T |
2: 112,070,296 (GRCm39) |
Q3L |
probably benign |
Het |
| Naa16 |
C |
A |
14: 79,580,561 (GRCm39) |
|
probably null |
Het |
| Nalcn |
G |
T |
14: 123,834,006 (GRCm39) |
N56K |
probably damaging |
Het |
| Obscn |
C |
G |
11: 59,025,395 (GRCm39) |
A412P |
probably damaging |
Het |
| Or1e23 |
A |
G |
11: 73,407,812 (GRCm39) |
L71P |
probably damaging |
Het |
| Pde8a |
T |
A |
7: 80,967,104 (GRCm39) |
L415Q |
probably damaging |
Het |
| Ppp4r3c1 |
T |
C |
X: 88,974,116 (GRCm39) |
I694V |
probably benign |
Het |
| Rgsl1 |
A |
G |
1: 153,693,330 (GRCm39) |
L617P |
probably damaging |
Het |
| Sap18b |
T |
C |
8: 96,552,068 (GRCm39) |
V26A |
probably benign |
Het |
| Senp2 |
T |
C |
16: 21,847,318 (GRCm39) |
L282P |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,131,339 (GRCm39) |
M826T |
probably damaging |
Het |
| Tmc3 |
T |
C |
7: 83,269,271 (GRCm39) |
S820P |
probably benign |
Het |
| Tmprss3 |
T |
C |
17: 31,405,533 (GRCm39) |
N353S |
probably damaging |
Het |
| Tro |
G |
A |
X: 149,438,198 (GRCm39) |
T153I |
probably benign |
Het |
| Trp53bp1 |
A |
G |
2: 121,035,566 (GRCm39) |
S1562P |
probably damaging |
Het |
| Uaca |
G |
A |
9: 60,778,366 (GRCm39) |
V916I |
probably benign |
Het |
|
| Other mutations in Rbms2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02573:Rbms2
|
APN |
10 |
127,979,309 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03331:Rbms2
|
APN |
10 |
127,969,504 (GRCm39) |
unclassified |
probably benign |
|
|
Salvatore
|
UTSW |
10 |
127,979,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0143:Rbms2
|
UTSW |
10 |
127,973,823 (GRCm39) |
missense |
probably benign |
0.17 |
|
R0458:Rbms2
|
UTSW |
10 |
127,987,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0494:Rbms2
|
UTSW |
10 |
127,969,539 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1348:Rbms2
|
UTSW |
10 |
128,012,214 (GRCm39) |
splice site |
probably null |
|
|
R1809:Rbms2
|
UTSW |
10 |
127,974,055 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2059:Rbms2
|
UTSW |
10 |
127,973,387 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3709:Rbms2
|
UTSW |
10 |
127,979,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3710:Rbms2
|
UTSW |
10 |
127,979,312 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5316:Rbms2
|
UTSW |
10 |
127,981,606 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5494:Rbms2
|
UTSW |
10 |
127,973,560 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5895:Rbms2
|
UTSW |
10 |
127,981,556 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6306:Rbms2
|
UTSW |
10 |
127,987,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7779:Rbms2
|
UTSW |
10 |
127,979,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Rbms2
|
UTSW |
10 |
127,987,107 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Rbms2
|
UTSW |
10 |
127,973,857 (GRCm39) |
missense |
probably benign |
0.04 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATTCTCCCTAAGAGCATGTGGC -3'
(R):5'- GCCAGTGAGATGACCTATCTTC -3'
Sequencing Primer
(F):5'- CAAGAAGCCAGCGCCTG -3'
(R):5'- AACTGCTTTACTCCCCTTTGAG -3'
|
| Posted On |
2015-04-29 |
Incidental Mutation