Incidental Mutation 'R8009:Rbm33'
| ID |
616791 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm33
|
| Ensembl Gene |
ENSMUSG00000048271 |
| Gene Name |
RNA binding motif protein 33 |
| Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
| MMRRC Submission |
046049-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8009 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
28522119-28624237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 28599606 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Arginine
at position 185
(G185R)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059644]
[ENSMUST00000114884]
|
| AlphaFold |
Q9CXK9 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000059644
AA Change: G1033R
|
| SMART Domains |
Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: G1033R
| 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: G993R
|
| SMART Domains |
Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: G993R
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000121879
Gene: ENSMUSG00000048271
AA Change: G185R
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
119 |
186 |
1.12e-3 |
SMART |
|
| Meta Mutation Damage Score |
0.0852 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (54/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
A |
5: 8,878,870 (GRCm39) |
N751K |
possibly damaging |
Het |
| Akap13 |
G |
A |
7: 75,380,213 (GRCm39) |
R462H |
probably damaging |
Het |
| Baz1a |
A |
T |
12: 54,941,816 (GRCm39) |
Y1466* |
probably null |
Het |
| Ccng1 |
G |
A |
11: 40,642,096 (GRCm39) |
H229Y |
probably benign |
Het |
| Cenpn |
C |
A |
8: 117,663,976 (GRCm39) |
T256N |
probably benign |
Het |
| Ciart |
A |
G |
3: 95,788,629 (GRCm39) |
V70A |
possibly damaging |
Het |
| Clcc1 |
A |
G |
3: 108,568,774 (GRCm39) |
N36S |
probably damaging |
Het |
| Dmrt1 |
T |
A |
19: 25,523,245 (GRCm39) |
S199T |
possibly damaging |
Het |
| Dmrt3 |
T |
C |
19: 25,588,272 (GRCm39) |
V37A |
possibly damaging |
Het |
| Dock1 |
T |
A |
7: 134,346,786 (GRCm39) |
D239E |
possibly damaging |
Het |
| Dyrk3 |
A |
G |
1: 131,063,995 (GRCm39) |
|
probably null |
Het |
| Esyt1 |
T |
C |
10: 128,347,354 (GRCm39) |
E1057G |
probably benign |
Het |
| Fsip2 |
A |
G |
2: 82,818,793 (GRCm39) |
E4842G |
possibly damaging |
Het |
| Gadd45b |
G |
A |
10: 80,766,984 (GRCm39) |
V90I |
probably benign |
Het |
| Gfi1 |
T |
A |
5: 107,871,667 (GRCm39) |
H79L |
probably damaging |
Het |
| Golm2 |
T |
C |
2: 121,737,242 (GRCm39) |
V261A |
probably benign |
Het |
| Idh2 |
T |
C |
7: 79,748,001 (GRCm39) |
H233R |
probably benign |
Het |
| Itsn2 |
G |
A |
12: 4,714,553 (GRCm39) |
A950T |
probably benign |
Het |
| Kcna5 |
A |
G |
6: 126,510,517 (GRCm39) |
L537P |
probably benign |
Het |
| Krtap5-4 |
C |
T |
7: 141,857,671 (GRCm39) |
Q114* |
probably null |
Het |
| Loxl3 |
T |
C |
6: 83,027,790 (GRCm39) |
F734S |
possibly damaging |
Het |
| Lpcat1 |
C |
T |
13: 73,659,498 (GRCm39) |
T420I |
probably damaging |
Het |
| Lrch3 |
A |
T |
16: 32,826,083 (GRCm39) |
D720V |
possibly damaging |
Het |
| Lrrk1 |
T |
C |
7: 65,915,222 (GRCm39) |
D1622G |
possibly damaging |
Het |
| Meioc |
G |
C |
11: 102,567,569 (GRCm39) |
A788P |
probably damaging |
Het |
| Mmp1a |
A |
T |
9: 7,467,236 (GRCm39) |
T271S |
possibly damaging |
Het |
| Nrp2 |
C |
T |
1: 62,784,567 (GRCm39) |
R239C |
probably damaging |
Het |
| Ntrk3 |
T |
A |
7: 78,103,076 (GRCm39) |
D408V |
probably benign |
Het |
| Odf1 |
A |
G |
15: 38,226,840 (GRCm39) |
I247V |
unknown |
Het |
| Or14j5 |
A |
T |
17: 38,161,693 (GRCm39) |
D70V |
probably damaging |
Het |
| Or8k39 |
A |
G |
2: 86,563,848 (GRCm39) |
L36P |
probably damaging |
Het |
| Pcsk1 |
T |
C |
13: 75,274,958 (GRCm39) |
S516P |
probably benign |
Het |
| Phactr3 |
A |
C |
2: 177,974,737 (GRCm39) |
R523S |
probably damaging |
Het |
| Pikfyve |
A |
G |
1: 65,294,293 (GRCm39) |
D1411G |
probably damaging |
Het |
| Ppcs |
A |
T |
4: 119,276,262 (GRCm39) |
S281T |
probably benign |
Het |
| Prkcg |
A |
G |
7: 3,362,708 (GRCm39) |
D294G |
probably benign |
Het |
| Psg28 |
T |
A |
7: 18,156,922 (GRCm39) |
I438L |
probably damaging |
Het |
| Pspc1 |
G |
A |
14: 57,009,304 (GRCm39) |
Q177* |
probably null |
Het |
| Rps6ka5 |
T |
C |
12: 100,544,048 (GRCm39) |
E350G |
probably damaging |
Het |
| Satb2 |
A |
G |
1: 56,910,917 (GRCm39) |
S243P |
probably benign |
Het |
| Serinc5 |
T |
C |
13: 92,797,699 (GRCm39) |
|
probably null |
Het |
| Sgce |
T |
C |
6: 4,691,636 (GRCm39) |
D313G |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,433,794 (GRCm39) |
V486I |
probably damaging |
Het |
| Stxbp5 |
A |
G |
10: 9,692,046 (GRCm39) |
V366A |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,061,687 (GRCm39) |
S2610P |
possibly damaging |
Het |
| Tlr3 |
G |
A |
8: 45,853,819 (GRCm39) |
T167M |
not run |
Het |
| Tmem200a |
A |
G |
10: 25,869,904 (GRCm39) |
S122P |
probably damaging |
Het |
| Tmprss15 |
C |
T |
16: 78,887,751 (GRCm39) |
V19M |
probably damaging |
Het |
| Tnks2 |
T |
A |
19: 36,829,901 (GRCm39) |
M194K |
probably benign |
Het |
| Trav14d-3-dv8 |
A |
C |
14: 53,316,224 (GRCm39) |
Q28P |
probably damaging |
Het |
| Trpm5 |
T |
C |
7: 142,634,106 (GRCm39) |
E700G |
probably benign |
Het |
| Ubqln3 |
T |
A |
7: 103,791,797 (GRCm39) |
I98L |
probably benign |
Het |
| Uso1 |
A |
T |
5: 92,314,439 (GRCm39) |
E115D |
probably benign |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,178 (GRCm39) |
V7A |
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 |
|
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 |
|
|
|
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'- GCGGTAAACTTTGTCCCACC -3'
(R):5'- AGGTTTGGTTAATCTACGTGACTC -3'
Sequencing Primer
(F):5'- TGCTAACGTGCAGCATCAAG -3'
(R):5'- GGTTAATCTACGTGACTCTACCAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation