Incidental Mutation 'IGL00917:Rbms3'
| ID |
28151 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbms3
|
| Ensembl Gene |
ENSMUSG00000039607 |
| Gene Name |
RNA binding motif, single stranded interacting protein |
| Synonyms |
6720477E09Rik, 8430436O14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL00917
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
116401814-117701749 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 116939183 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 27
(S27P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133621
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044901]
[ENSMUST00000068962]
[ENSMUST00000111772]
[ENSMUST00000111773]
[ENSMUST00000164018]
[ENSMUST00000174868]
[ENSMUST00000172564]
|
| AlphaFold |
Q8BWL5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044901
AA Change: S27P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000039706
Gene: ENSMUSG00000039607
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000068962
AA Change: S27P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000066735
Gene: ENSMUSG00000039607
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
384 |
394 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000069095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000084824
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111772
AA Change: S27P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107402
Gene: ENSMUSG00000039607
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
385 |
395 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000111773
AA Change: S27P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000107403
Gene: ENSMUSG00000039607
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
low complexity region
|
401 |
411 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000164018
AA Change: S76P
|
| SMART Domains |
Protein: ENSMUSP00000131371
Gene: ENSMUSG00000039607
AA Change: S76P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
76 |
98 |
N/A |
INTRINSIC |
|
RRM
|
106 |
174 |
1.2e-17 |
SMART |
|
RRM
|
185 |
257 |
1.49e-13 |
SMART |
|
low complexity region
|
433 |
443 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174868
AA Change: S27P
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000133621
Gene: ENSMUSG00000039607
AA Change: S27P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
27 |
49 |
N/A |
INTRINSIC |
|
RRM
|
57 |
125 |
1.2e-17 |
SMART |
|
RRM
|
136 |
208 |
1.49e-13 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000174276
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172564
AA Change: S26P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000134528
Gene: ENSMUSG00000039607
AA Change: S26P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
26 |
48 |
N/A |
INTRINSIC |
|
RRM
|
56 |
124 |
1.2e-17 |
SMART |
|
RRM
|
135 |
204 |
4.78e-12 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an RNA-binding protein that belongs to the c-myc gene single-strand binding protein family. 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. These proteins have been implicated in such diverse functions as DNA replication, gene transcription, cell cycle progression and apoptosis. The encoded protein was isolated by virtue of its binding to an upstream element of the alpha2(I) collagen promoter. The observation that this protein localizes mostly in the cytoplasm suggests that it may be involved in a cytoplasmic function such as controlling RNA metabolism, rather than transcription. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc5 |
A |
T |
16: 20,241,107 (GRCm39) |
V26E |
probably benign |
Het |
| Adcy4 |
T |
A |
14: 56,011,120 (GRCm39) |
|
probably null |
Het |
| Adgrl3 |
C |
T |
5: 81,841,421 (GRCm39) |
T766I |
possibly damaging |
Het |
| Atad2b |
A |
T |
12: 5,015,837 (GRCm39) |
|
probably benign |
Het |
| Atp8b4 |
A |
T |
2: 126,216,453 (GRCm39) |
S664R |
probably benign |
Het |
| Cand1 |
A |
C |
10: 119,046,841 (GRCm39) |
I883S |
possibly damaging |
Het |
| Cfap53 |
A |
G |
18: 74,432,367 (GRCm39) |
D85G |
probably benign |
Het |
| Chd4 |
G |
A |
6: 125,081,909 (GRCm39) |
R514Q |
possibly damaging |
Het |
| Cnst |
T |
C |
1: 179,452,557 (GRCm39) |
|
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,661,453 (GRCm39) |
|
probably benign |
Het |
| Cux2 |
A |
C |
5: 122,007,168 (GRCm39) |
L831R |
probably null |
Het |
| Elf2 |
T |
A |
3: 51,215,467 (GRCm39) |
|
probably benign |
Het |
| Frey1 |
T |
A |
2: 92,213,563 (GRCm39) |
S39T |
probably benign |
Het |
| Glp1r |
A |
G |
17: 31,138,443 (GRCm39) |
|
probably benign |
Het |
| Hus1b |
A |
G |
13: 31,131,527 (GRCm39) |
M44T |
probably benign |
Het |
| Mbd6 |
A |
G |
10: 127,119,988 (GRCm39) |
|
probably benign |
Het |
| Med31 |
T |
A |
11: 72,102,905 (GRCm39) |
|
probably null |
Het |
| Mmrn1 |
C |
T |
6: 60,952,894 (GRCm39) |
Q392* |
probably null |
Het |
| Mrpl3 |
T |
G |
9: 104,934,240 (GRCm39) |
V121G |
probably damaging |
Het |
| Or10am5 |
A |
G |
7: 6,517,577 (GRCm39) |
S284P |
probably damaging |
Het |
| Or14c46 |
A |
T |
7: 85,918,649 (GRCm39) |
M116K |
probably damaging |
Het |
| Palld |
A |
G |
8: 61,968,969 (GRCm39) |
V879A |
possibly damaging |
Het |
| Pkn2 |
G |
T |
3: 142,559,386 (GRCm39) |
D46E |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,557,428 (GRCm39) |
C2244S |
probably damaging |
Het |
| Prss50 |
T |
A |
9: 110,691,474 (GRCm39) |
H259Q |
possibly damaging |
Het |
| Rab8b |
C |
T |
9: 66,761,969 (GRCm39) |
W102* |
probably null |
Het |
| Rad54l2 |
A |
T |
9: 106,587,638 (GRCm39) |
L709Q |
possibly damaging |
Het |
| Rapgef1 |
T |
C |
2: 29,592,535 (GRCm39) |
V471A |
probably benign |
Het |
| Rpl35a |
A |
G |
16: 32,879,101 (GRCm39) |
K73E |
possibly damaging |
Het |
| Sugct |
A |
T |
13: 17,032,503 (GRCm39) |
Y416* |
probably null |
Het |
| Top2b |
A |
G |
14: 16,407,354 (GRCm38) |
I713V |
probably benign |
Het |
| Unc79 |
A |
T |
12: 103,054,766 (GRCm39) |
R777S |
possibly damaging |
Het |
| Vps37a |
T |
A |
8: 40,993,779 (GRCm39) |
M258K |
probably benign |
Het |
| Zfp944 |
G |
A |
17: 22,558,765 (GRCm39) |
L161F |
probably benign |
Het |
|
| Other mutations in Rbms3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01859:Rbms3
|
APN |
9 |
116,788,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01962:Rbms3
|
APN |
9 |
116,524,879 (GRCm39) |
splice site |
probably benign |
|
|
IGL03034:Rbms3
|
APN |
9 |
117,080,879 (GRCm39) |
utr 5 prime |
probably benign |
|
|
PIT4810001:Rbms3
|
UTSW |
9 |
116,885,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0862:Rbms3
|
UTSW |
9 |
117,458,860 (GRCm39) |
splice site |
probably benign |
|
|
R0864:Rbms3
|
UTSW |
9 |
117,458,860 (GRCm39) |
splice site |
probably benign |
|
|
R0939:Rbms3
|
UTSW |
9 |
116,939,028 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1796:Rbms3
|
UTSW |
9 |
116,548,401 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1808:Rbms3
|
UTSW |
9 |
116,651,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1826:Rbms3
|
UTSW |
9 |
116,651,936 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2213:Rbms3
|
UTSW |
9 |
116,788,534 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3719:Rbms3
|
UTSW |
9 |
116,411,930 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3935:Rbms3
|
UTSW |
9 |
116,465,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4270:Rbms3
|
UTSW |
9 |
116,885,816 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4822:Rbms3
|
UTSW |
9 |
116,773,441 (GRCm39) |
intron |
probably benign |
|
|
R4943:Rbms3
|
UTSW |
9 |
116,507,573 (GRCm39) |
intron |
probably benign |
|
|
R5445:Rbms3
|
UTSW |
9 |
117,080,853 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R5997:Rbms3
|
UTSW |
9 |
116,548,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6848:Rbms3
|
UTSW |
9 |
117,080,809 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6944:Rbms3
|
UTSW |
9 |
116,939,173 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7205:Rbms3
|
UTSW |
9 |
116,415,085 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7419:Rbms3
|
UTSW |
9 |
116,651,894 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Rbms3
|
UTSW |
9 |
116,885,823 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R8984:Rbms3
|
UTSW |
9 |
116,524,886 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation