Incidental Mutation 'IGL03331:Rbms2'
| ID |
416888 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbms2
|
| Ensembl Gene |
ENSMUSG00000040043 |
| Gene Name |
RNA binding motif, single stranded interacting protein 2 |
| Synonyms |
Scr3, 2610315E04Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.140)
|
| Stock # |
IGL03331
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
127967427-128016166 bp(-) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
T to A
at 127969504 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151961
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045621]
[ENSMUST00000092033]
[ENSMUST00000099139]
[ENSMUST00000170054]
[ENSMUST00000217851]
[ENSMUST00000220049]
|
| AlphaFold |
Q8VC70 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045621
|
| SMART Domains |
Protein: ENSMUSP00000044359
Gene: ENSMUSG00000040054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
342 |
353 |
N/A |
INTRINSIC |
|
low complexity region
|
421 |
475 |
N/A |
INTRINSIC |
|
low complexity region
|
518 |
529 |
N/A |
INTRINSIC |
|
MBD
|
539 |
614 |
3.87e-35 |
SMART |
|
AT_hook
|
639 |
651 |
2.38e0 |
SMART |
|
AT_hook
|
660 |
672 |
1.65e0 |
SMART |
|
low complexity region
|
697 |
710 |
N/A |
INTRINSIC |
|
coiled coil region
|
736 |
776 |
N/A |
INTRINSIC |
|
DDT
|
837 |
902 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
939 |
988 |
4.8e-8 |
PFAM |
|
low complexity region
|
1001 |
1013 |
N/A |
INTRINSIC |
|
AT_hook
|
1174 |
1186 |
6.23e1 |
SMART |
|
AT_hook
|
1388 |
1400 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1423 |
1464 |
1e-9 |
PFAM |
|
PHD
|
1662 |
1708 |
1.47e-11 |
SMART |
|
low complexity region
|
1741 |
1753 |
N/A |
INTRINSIC |
|
BROMO
|
1773 |
1881 |
7.71e-41 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000092033
|
| SMART Domains |
Protein: ENSMUSP00000089664
Gene: ENSMUSG00000040043
| 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
|
| SMART Domains |
Protein: ENSMUSP00000096742
Gene: ENSMUSG00000040043
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170054
|
| SMART Domains |
Protein: ENSMUSP00000129803
Gene: ENSMUSG00000040054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
73 |
82 |
N/A |
INTRINSIC |
|
low complexity region
|
181 |
192 |
N/A |
INTRINSIC |
|
low complexity region
|
343 |
354 |
N/A |
INTRINSIC |
|
low complexity region
|
422 |
476 |
N/A |
INTRINSIC |
|
low complexity region
|
519 |
530 |
N/A |
INTRINSIC |
|
MBD
|
540 |
615 |
3.87e-35 |
SMART |
|
AT_hook
|
640 |
652 |
2.38e0 |
SMART |
|
AT_hook
|
661 |
673 |
1.65e0 |
SMART |
|
low complexity region
|
698 |
711 |
N/A |
INTRINSIC |
|
coiled coil region
|
737 |
777 |
N/A |
INTRINSIC |
|
DDT
|
838 |
903 |
3.75e-18 |
SMART |
|
Pfam:WHIM1
|
940 |
989 |
4.8e-8 |
PFAM |
|
low complexity region
|
1002 |
1014 |
N/A |
INTRINSIC |
|
AT_hook
|
1175 |
1187 |
6.23e1 |
SMART |
|
AT_hook
|
1389 |
1401 |
4.21e0 |
SMART |
|
Pfam:WHIM3
|
1424 |
1462 |
5.5e-19 |
PFAM |
|
PHD
|
1663 |
1709 |
1.47e-11 |
SMART |
|
low complexity region
|
1742 |
1754 |
N/A |
INTRINSIC |
|
BROMO
|
1774 |
1882 |
7.71e-41 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217722
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217750
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000217851
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000220049
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218884
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akap11 |
C |
A |
14: 78,751,305 (GRCm39) |
D361Y |
probably damaging |
Het |
| Arhgap10 |
T |
C |
8: 78,146,711 (GRCm39) |
N231S |
probably damaging |
Het |
| Asb15 |
A |
T |
6: 24,556,523 (GRCm39) |
D6V |
possibly damaging |
Het |
| C1qb |
G |
A |
4: 136,607,604 (GRCm39) |
A253V |
probably damaging |
Het |
| Ccdc178 |
G |
T |
18: 21,944,640 (GRCm39) |
|
probably null |
Het |
| Chst15 |
A |
G |
7: 131,864,442 (GRCm39) |
L387P |
probably damaging |
Het |
| Clca3b |
T |
A |
3: 144,533,724 (GRCm39) |
E550D |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,420,086 (GRCm39) |
K3795E |
probably damaging |
Het |
| Dppa2 |
T |
C |
16: 48,134,242 (GRCm39) |
|
probably benign |
Het |
| Epb41l5 |
T |
C |
1: 119,545,149 (GRCm39) |
Y220C |
probably damaging |
Het |
| Fkbpl |
C |
T |
17: 34,864,661 (GRCm39) |
T143I |
probably damaging |
Het |
| Gbe1 |
T |
G |
16: 70,230,466 (GRCm39) |
Y155D |
probably damaging |
Het |
| Gm1979 |
T |
C |
5: 26,207,008 (GRCm39) |
K69R |
probably damaging |
Het |
| Gna14 |
G |
A |
19: 16,586,832 (GRCm39) |
V336M |
probably damaging |
Het |
| Gpr37 |
A |
G |
6: 25,669,728 (GRCm39) |
V372A |
probably benign |
Het |
| H2bc12 |
T |
C |
13: 22,220,443 (GRCm39) |
|
probably benign |
Het |
| Herc2 |
C |
A |
7: 55,785,015 (GRCm39) |
|
probably benign |
Het |
| Krt20 |
T |
C |
11: 99,326,256 (GRCm39) |
|
probably null |
Het |
| Lman1 |
T |
C |
18: 66,126,275 (GRCm39) |
T284A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,345,503 (GRCm39) |
D170V |
probably damaging |
Het |
| Morc1 |
C |
A |
16: 48,432,731 (GRCm39) |
|
probably benign |
Het |
| Necap1 |
T |
A |
6: 122,857,376 (GRCm39) |
S34T |
probably benign |
Het |
| Nt5c3b |
T |
C |
11: 100,327,041 (GRCm39) |
Y85C |
probably damaging |
Het |
| Or2t6 |
C |
A |
14: 14,176,017 (GRCm38) |
A22S |
probably benign |
Het |
| Or5b102 |
T |
A |
19: 13,041,231 (GRCm39) |
L152H |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,830,435 (GRCm39) |
M1016V |
probably benign |
Het |
| Pld1 |
T |
C |
3: 28,139,994 (GRCm39) |
F605L |
probably damaging |
Het |
| Rps6kb1 |
A |
T |
11: 86,423,656 (GRCm39) |
V108E |
probably damaging |
Het |
| Scap |
T |
C |
9: 110,209,304 (GRCm39) |
|
probably null |
Het |
| Serpina1f |
T |
C |
12: 103,657,150 (GRCm39) |
I307M |
probably benign |
Het |
| Tchh |
A |
G |
3: 93,350,725 (GRCm39) |
D55G |
probably damaging |
Het |
| Tnfaip3 |
G |
T |
10: 18,887,349 (GRCm39) |
Q59K |
possibly damaging |
Het |
| Vcan |
A |
G |
13: 89,810,051 (GRCm39) |
C2287R |
probably damaging |
Het |
| Vmn2r6 |
T |
C |
3: 64,445,428 (GRCm39) |
N766D |
probably damaging |
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 |
|
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 |
|
R4001:Rbms2
|
UTSW |
10 |
127,987,169 (GRCm39) |
missense |
probably benign |
0.03 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation