Incidental Mutation 'IGL01284:Rbm33'
| ID |
72643 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rbm33
|
| Ensembl Gene |
ENSMUSG00000048271 |
| Gene Name |
RNA binding motif protein 33 |
| Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL01284
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
28522119-28624237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28615707 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 17
(T17A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122901
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059644]
[ENSMUST00000114884]
[ENSMUST00000133313]
|
| AlphaFold |
Q9CXK9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000059644
AA Change: T1170A
|
| SMART Domains |
Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: T1170A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
191 |
202 |
N/A |
INTRINSIC |
|
low complexity region
|
241 |
253 |
N/A |
INTRINSIC |
|
low complexity region
|
282 |
301 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
327 |
N/A |
INTRINSIC |
|
low complexity region
|
362 |
407 |
N/A |
INTRINSIC |
|
low complexity region
|
444 |
460 |
N/A |
INTRINSIC |
|
low complexity region
|
625 |
707 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
837 |
N/A |
INTRINSIC |
|
coiled coil region
|
846 |
891 |
N/A |
INTRINSIC |
|
RRM
|
1160 |
1227 |
1.12e-3 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000114884
AA Change: T1130A
|
| SMART Domains |
Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: T1130A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
14 |
N/A |
INTRINSIC |
|
low complexity region
|
36 |
55 |
N/A |
INTRINSIC |
|
low complexity region
|
59 |
81 |
N/A |
INTRINSIC |
|
low complexity region
|
109 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
201 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
242 |
261 |
N/A |
INTRINSIC |
|
low complexity region
|
267 |
287 |
N/A |
INTRINSIC |
|
low complexity region
|
322 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
404 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
585 |
667 |
N/A |
INTRINSIC |
|
low complexity region
|
777 |
797 |
N/A |
INTRINSIC |
|
coiled coil region
|
806 |
851 |
N/A |
INTRINSIC |
|
RRM
|
1120 |
1187 |
4.7e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000133313
AA Change: T17A
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000122901
Gene: ENSMUSG00000048271
AA Change: T17A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RRM_1
|
8 |
65 |
3.2e-6 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000144967
AA Change: T321A
|
| SMART Domains |
Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271
AA Change: T321A
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
119 |
186 |
1.12e-3 |
SMART |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
A |
T |
6: 86,827,035 (GRCm39) |
M1L |
possibly damaging |
Het |
| Agr2 |
A |
G |
12: 36,045,580 (GRCm39) |
D22G |
possibly damaging |
Het |
| C9orf72 |
A |
T |
4: 35,218,808 (GRCm39) |
I17N |
probably damaging |
Het |
| Cck |
G |
T |
9: 121,319,236 (GRCm39) |
N82K |
probably benign |
Het |
| Cdh23 |
A |
T |
10: 60,301,876 (GRCm39) |
I402N |
possibly damaging |
Het |
| Cfap157 |
T |
C |
2: 32,671,491 (GRCm39) |
D105G |
possibly damaging |
Het |
| Dhx9 |
C |
A |
1: 153,340,644 (GRCm39) |
L665F |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,196,265 (GRCm39) |
E1621G |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,203,009 (GRCm39) |
Y713C |
probably damaging |
Het |
| Fbp2 |
T |
C |
13: 62,988,099 (GRCm39) |
S271G |
probably benign |
Het |
| Gp5 |
G |
T |
16: 30,128,028 (GRCm39) |
S215R |
probably benign |
Het |
| Kpnb1 |
A |
G |
11: 97,056,928 (GRCm39) |
M647T |
probably damaging |
Het |
| Masp2 |
A |
G |
4: 148,698,464 (GRCm39) |
E515G |
probably damaging |
Het |
| Mfge8 |
A |
G |
7: 78,786,530 (GRCm39) |
S290P |
probably damaging |
Het |
| Negr1 |
C |
T |
3: 156,851,854 (GRCm39) |
P219S |
probably damaging |
Het |
| Nkx2-6 |
T |
C |
14: 69,409,326 (GRCm39) |
S26P |
probably benign |
Het |
| Or10a49 |
C |
T |
7: 108,467,482 (GRCm39) |
R293K |
possibly damaging |
Het |
| Pdzd9 |
A |
C |
7: 120,259,494 (GRCm39) |
Y165D |
possibly damaging |
Het |
| Pik3ca |
C |
T |
3: 32,516,733 (GRCm39) |
A987V |
probably damaging |
Het |
| Pomp |
T |
A |
5: 147,797,491 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,058,664 (GRCm39) |
|
probably benign |
Het |
| Slc4a4 |
G |
A |
5: 89,277,532 (GRCm39) |
A334T |
probably benign |
Het |
| Tecta |
A |
G |
9: 42,256,916 (GRCm39) |
F1587L |
probably damaging |
Het |
| Tex29 |
C |
A |
8: 11,894,231 (GRCm39) |
Y46* |
probably null |
Het |
| Tgm5 |
A |
G |
2: 120,883,028 (GRCm39) |
S410P |
possibly damaging |
Het |
| Tmtc2 |
A |
G |
10: 105,107,372 (GRCm39) |
Y714H |
possibly damaging |
Het |
| Tubgcp6 |
C |
T |
15: 88,994,258 (GRCm39) |
R468Q |
probably damaging |
Het |
|
| Other mutations in Rbm33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01470:Rbm33
|
APN |
5 |
28,592,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01565:Rbm33
|
APN |
5 |
28,596,077 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02119:Rbm33
|
APN |
5 |
28,544,015 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02740:Rbm33
|
APN |
5 |
28,536,121 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02869:Rbm33
|
APN |
5 |
28,615,753 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03355:Rbm33
|
APN |
5 |
28,596,059 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03381:Rbm33
|
APN |
5 |
28,599,390 (GRCm39) |
missense |
unknown |
|
|
FR4449:Rbm33
|
UTSW |
5 |
28,599,166 (GRCm39) |
small deletion |
probably benign |
|
|
FR4548:Rbm33
|
UTSW |
5 |
28,599,199 (GRCm39) |
small deletion |
probably benign |
|
|
R0091:Rbm33
|
UTSW |
5 |
28,557,604 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R0725:Rbm33
|
UTSW |
5 |
28,599,481 (GRCm39) |
missense |
unknown |
|
|
R1522:Rbm33
|
UTSW |
5 |
28,542,002 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1918:Rbm33
|
UTSW |
5 |
28,592,915 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2186:Rbm33
|
UTSW |
5 |
28,599,228 (GRCm39) |
missense |
unknown |
|
|
R2448:Rbm33
|
UTSW |
5 |
28,547,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4151:Rbm33
|
UTSW |
5 |
28,592,938 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Rbm33
|
UTSW |
5 |
28,613,280 (GRCm39) |
unclassified |
probably benign |
|
|
R4787:Rbm33
|
UTSW |
5 |
28,547,435 (GRCm39) |
splice site |
probably null |
|
|
R4954:Rbm33
|
UTSW |
5 |
28,544,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5013:Rbm33
|
UTSW |
5 |
28,547,409 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5141:Rbm33
|
UTSW |
5 |
28,557,687 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5248:Rbm33
|
UTSW |
5 |
28,542,050 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5259:Rbm33
|
UTSW |
5 |
28,557,772 (GRCm39) |
splice site |
probably null |
|
|
R5695:Rbm33
|
UTSW |
5 |
28,544,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5790:Rbm33
|
UTSW |
5 |
28,544,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6591:Rbm33
|
UTSW |
5 |
28,557,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6668:Rbm33
|
UTSW |
5 |
28,547,498 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6691:Rbm33
|
UTSW |
5 |
28,557,544 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6930:Rbm33
|
UTSW |
5 |
28,557,504 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6931:Rbm33
|
UTSW |
5 |
28,615,743 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7034:Rbm33
|
UTSW |
5 |
28,599,496 (GRCm39) |
missense |
unknown |
|
|
R7056:Rbm33
|
UTSW |
5 |
28,599,001 (GRCm39) |
unclassified |
probably benign |
|
|
R7224:Rbm33
|
UTSW |
5 |
28,599,322 (GRCm39) |
missense |
|
|
|
R7579:Rbm33
|
UTSW |
5 |
28,573,264 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7839:Rbm33
|
UTSW |
5 |
28,573,397 (GRCm39) |
splice site |
probably null |
|
|
R7961:Rbm33
|
UTSW |
5 |
28,599,606 (GRCm39) |
missense |
|
|
|
R8009:Rbm33
|
UTSW |
5 |
28,599,606 (GRCm39) |
missense |
|
|
|
R8051:Rbm33
|
UTSW |
5 |
28,557,623 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8265:Rbm33
|
UTSW |
5 |
28,599,322 (GRCm39) |
missense |
|
|
|
R8461:Rbm33
|
UTSW |
5 |
28,592,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8734:Rbm33
|
UTSW |
5 |
28,557,874 (GRCm39) |
intron |
probably benign |
|
|
R9206:Rbm33
|
UTSW |
5 |
28,557,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9233:Rbm33
|
UTSW |
5 |
28,544,239 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9376:Rbm33
|
UTSW |
5 |
28,544,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9731:Rbm33
|
UTSW |
5 |
28,544,242 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF011:Rbm33
|
UTSW |
5 |
28,599,179 (GRCm39) |
small deletion |
probably benign |
|
|
RF026:Rbm33
|
UTSW |
5 |
28,599,179 (GRCm39) |
small deletion |
probably benign |
|
|
RF047:Rbm33
|
UTSW |
5 |
28,599,160 (GRCm39) |
small insertion |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation