Incidental Mutation 'R6591:Rbm33'
| ID |
524559 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm33
|
| Ensembl Gene |
ENSMUSG00000048271 |
| Gene Name |
RNA binding motif protein 33 |
| Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
| MMRRC Submission |
044715-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6591 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
28522119-28624237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 28557544 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 252
(E252D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030920]
[ENSMUST00000059644]
[ENSMUST00000090355]
[ENSMUST00000114884]
|
| AlphaFold |
Q9CXK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030920
AA Change: E252D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: E252D
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059644
AA Change: E252D
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: E252D
| 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 |
possibly damaging
Transcript: ENSMUST00000090355
AA Change: E212D
PolyPhen 2
Score 0.913 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
AA Change: E212D
| 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 |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114884
AA Change: E212D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: E212D
| 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 |
|
| Meta Mutation Damage Score |
0.0751 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.2%
|
| Validation Efficiency |
100% (34/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300009A05Rik |
A |
G |
9: 63,306,236 (GRCm39) |
Y90H |
probably damaging |
Het |
| Agk |
A |
G |
6: 40,369,624 (GRCm39) |
D337G |
probably benign |
Het |
| Amn |
A |
G |
12: 111,241,831 (GRCm39) |
H299R |
possibly damaging |
Het |
| Angptl4 |
A |
G |
17: 33,999,755 (GRCm39) |
|
probably null |
Het |
| AU040320 |
G |
A |
4: 126,730,463 (GRCm39) |
M563I |
possibly damaging |
Het |
| Cachd1 |
T |
C |
4: 100,846,683 (GRCm39) |
M1042T |
probably benign |
Het |
| Cd209c |
T |
A |
8: 3,995,680 (GRCm39) |
I41L |
probably benign |
Het |
| Ceacam12 |
T |
A |
7: 17,803,149 (GRCm39) |
V185D |
possibly damaging |
Het |
| Chpt1 |
A |
T |
10: 88,321,762 (GRCm39) |
|
probably benign |
Het |
| Clca3a1 |
G |
C |
3: 144,719,644 (GRCm39) |
A442G |
probably damaging |
Het |
| Cldn8 |
T |
C |
16: 88,359,423 (GRCm39) |
I167M |
possibly damaging |
Het |
| Cln3 |
A |
G |
7: 126,178,606 (GRCm39) |
V143A |
possibly damaging |
Het |
| Dusp11 |
T |
C |
6: 85,938,507 (GRCm39) |
H4R |
possibly damaging |
Het |
| Ephb3 |
T |
A |
16: 21,033,223 (GRCm39) |
F69Y |
probably damaging |
Het |
| Gm11099 |
A |
T |
2: 58,749,485 (GRCm39) |
|
probably benign |
Het |
| Grik2 |
A |
T |
10: 49,149,021 (GRCm39) |
Y521* |
probably null |
Het |
| Igf2r |
A |
G |
17: 12,907,895 (GRCm39) |
L2143P |
probably damaging |
Het |
| Kcnk1 |
T |
C |
8: 126,751,970 (GRCm39) |
V192A |
probably benign |
Het |
| Or4a81 |
A |
T |
2: 89,619,332 (GRCm39) |
Y121* |
probably null |
Het |
| Or8k53 |
A |
C |
2: 86,177,763 (GRCm39) |
S116A |
probably damaging |
Het |
| Parp3 |
A |
G |
9: 106,350,891 (GRCm39) |
S329P |
probably benign |
Het |
| Pld3 |
A |
T |
7: 27,231,741 (GRCm39) |
N483K |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,609,609 (GRCm39) |
T4406A |
probably benign |
Het |
| Sgsm3 |
A |
G |
15: 80,893,063 (GRCm39) |
D380G |
possibly damaging |
Het |
| Sorl1 |
G |
T |
9: 41,913,863 (GRCm39) |
D1355E |
probably damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,063,984 (GRCm39) |
S1945P |
probably damaging |
Het |
| Ube2m |
A |
T |
7: 12,770,396 (GRCm39) |
F70I |
probably damaging |
Het |
| Ube3b |
A |
G |
5: 114,546,185 (GRCm39) |
I664V |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,378 (GRCm39) |
E179G |
possibly damaging |
Het |
| Vps50 |
T |
C |
6: 3,504,939 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
T |
C |
11: 23,236,875 (GRCm39) |
L718P |
probably damaging |
Het |
| Zfp354c |
A |
G |
11: 50,705,602 (GRCm39) |
I491T |
probably benign |
Het |
|
| Other mutations in Rbm33 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01284:Rbm33
|
APN |
5 |
28,615,707 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGGTTTCACATAGCCTTTTACCAG -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'
Sequencing Primer
(F):5'- ACCAGGCACTTTGAGCTGTAC -3'
(R):5'- GCACCAGCCTCACTTATACCATG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation