Incidental Mutation 'R6930:Rbm33'
ID |
539930 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm33
|
Ensembl Gene |
ENSMUSG00000048271 |
Gene Name |
RNA binding motif protein 33 |
Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
MMRRC Submission |
045046-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6930 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
28522119-28624237 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 28557504 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 199
(I199T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000110534
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030920]
[ENSMUST00000059644]
[ENSMUST00000090355]
[ENSMUST00000114884]
|
AlphaFold |
Q9CXK9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030920
AA Change: I239T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000030920 Gene: ENSMUSG00000048271 AA Change: I239T
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 benign
Transcript: ENSMUST00000059644
AA Change: I239T
PolyPhen 2
Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000062449 Gene: ENSMUSG00000048271 AA Change: I239T
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 |
probably benign
Transcript: ENSMUST00000090355
AA Change: I199T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000091512 Gene: ENSMUSG00000048271 AA Change: I199T
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 benign
Transcript: ENSMUST00000114884
AA Change: I199T
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000110534 Gene: ENSMUSG00000048271 AA Change: I199T
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 |
0.0862 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 99.0%
- 20x: 96.5%
|
Validation Efficiency |
100% (63/63) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
A |
T |
11: 23,466,563 (GRCm39) |
D156E |
probably benign |
Het |
Adam17 |
A |
T |
12: 21,403,949 (GRCm39) |
V99E |
probably damaging |
Het |
Akr1e1 |
T |
C |
13: 4,652,714 (GRCm39) |
D41G |
probably damaging |
Het |
Alcam |
T |
C |
16: 52,126,018 (GRCm39) |
I100V |
probably benign |
Het |
Atr |
T |
C |
9: 95,748,688 (GRCm39) |
I411T |
probably benign |
Het |
Bbs4 |
T |
C |
9: 59,230,764 (GRCm39) |
S453G |
probably benign |
Het |
Brdt |
C |
T |
5: 107,507,081 (GRCm39) |
L494F |
probably benign |
Het |
Ccser1 |
T |
C |
6: 62,357,009 (GRCm39) |
S816P |
probably benign |
Het |
Cdk10 |
T |
C |
8: 123,957,347 (GRCm39) |
I157T |
probably damaging |
Het |
Ceacam5 |
G |
A |
7: 17,484,759 (GRCm39) |
|
probably null |
Het |
Chst15 |
T |
C |
7: 131,870,759 (GRCm39) |
I259V |
possibly damaging |
Het |
Cracdl |
A |
T |
1: 37,664,026 (GRCm39) |
I624N |
possibly damaging |
Het |
Csmd1 |
A |
T |
8: 16,142,409 (GRCm39) |
M1498K |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,135,151 (GRCm39) |
D1343G |
probably damaging |
Het |
Denr |
T |
C |
5: 124,046,250 (GRCm39) |
Y27H |
probably benign |
Het |
Dop1a |
T |
C |
9: 86,413,825 (GRCm39) |
|
probably null |
Het |
Epg5 |
T |
C |
18: 78,057,378 (GRCm39) |
F1819S |
probably damaging |
Het |
Flg2 |
T |
A |
3: 93,108,642 (GRCm39) |
Y223* |
probably null |
Het |
Fry |
T |
C |
5: 150,351,695 (GRCm39) |
L1733P |
probably benign |
Het |
Gabrb2 |
T |
C |
11: 42,488,440 (GRCm39) |
V302A |
probably damaging |
Het |
Gimap9 |
G |
A |
6: 48,654,601 (GRCm39) |
D53N |
probably damaging |
Het |
Gje1 |
G |
T |
10: 14,593,886 (GRCm39) |
L3I |
possibly damaging |
Het |
Gm49383 |
G |
T |
12: 69,239,586 (GRCm39) |
A645E |
probably damaging |
Het |
Gm8947 |
G |
A |
1: 151,068,347 (GRCm39) |
G60D |
probably damaging |
Het |
Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
Gys2 |
A |
G |
6: 142,405,106 (GRCm39) |
|
probably null |
Het |
Hace1 |
A |
G |
10: 45,494,598 (GRCm39) |
H136R |
probably damaging |
Het |
Herc3 |
T |
G |
6: 58,893,444 (GRCm39) |
V902G |
probably damaging |
Het |
Hspbp1 |
T |
C |
7: 4,687,606 (GRCm39) |
R2G |
probably benign |
Het |
Iqch |
T |
A |
9: 63,387,856 (GRCm39) |
K811N |
possibly damaging |
Het |
Kmt2a |
A |
G |
9: 44,753,962 (GRCm39) |
|
probably benign |
Het |
Lonrf2 |
A |
T |
1: 38,843,417 (GRCm39) |
V372D |
probably benign |
Het |
Lpin2 |
T |
C |
17: 71,551,786 (GRCm39) |
Y729H |
probably damaging |
Het |
Lrrc32 |
A |
G |
7: 98,148,471 (GRCm39) |
N417S |
possibly damaging |
Het |
Malrd1 |
T |
A |
2: 15,802,478 (GRCm39) |
C1064S |
unknown |
Het |
Mast3 |
G |
A |
8: 71,252,115 (GRCm39) |
R20* |
probably null |
Het |
Mypn |
A |
C |
10: 62,952,718 (GRCm39) |
I174S |
probably damaging |
Het |
Nrg1 |
G |
A |
8: 32,308,534 (GRCm39) |
T505M |
probably damaging |
Het |
Or13p8 |
A |
G |
4: 118,584,338 (GRCm39) |
K298R |
probably damaging |
Het |
Or6y1 |
A |
G |
1: 174,276,677 (GRCm39) |
I163V |
probably damaging |
Het |
Or7a42 |
A |
G |
10: 78,791,615 (GRCm39) |
D192G |
possibly damaging |
Het |
Or7e178 |
A |
G |
9: 20,225,395 (GRCm39) |
Y266H |
probably damaging |
Het |
Phf3 |
T |
C |
1: 30,850,958 (GRCm39) |
E1132G |
probably damaging |
Het |
Pla2g4d |
A |
T |
2: 120,101,114 (GRCm39) |
M521K |
probably damaging |
Het |
Plekhg1 |
A |
G |
10: 3,913,770 (GRCm39) |
H1164R |
possibly damaging |
Het |
Plxnb2 |
A |
G |
15: 89,044,592 (GRCm39) |
V1218A |
probably benign |
Het |
Pold1 |
A |
G |
7: 44,191,630 (GRCm39) |
S119P |
probably benign |
Het |
Pole |
T |
A |
5: 110,441,156 (GRCm39) |
D203E |
probably benign |
Het |
Rapgefl1 |
T |
A |
11: 98,737,947 (GRCm39) |
L387Q |
probably damaging |
Het |
Rsrc1 |
C |
T |
3: 66,901,982 (GRCm39) |
P44L |
unknown |
Het |
Rufy1 |
C |
A |
11: 50,289,207 (GRCm39) |
R545L |
probably benign |
Het |
Ryr3 |
T |
A |
2: 112,690,699 (GRCm39) |
D1117V |
probably damaging |
Het |
Sap130 |
T |
C |
18: 31,815,141 (GRCm39) |
V621A |
possibly damaging |
Het |
Sparcl1 |
T |
A |
5: 104,234,940 (GRCm39) |
Y525F |
probably damaging |
Het |
Spon2 |
A |
G |
5: 33,373,771 (GRCm39) |
V180A |
probably benign |
Het |
Trav10n |
G |
A |
14: 53,359,947 (GRCm39) |
V75M |
probably benign |
Het |
Ttc34 |
T |
C |
4: 154,923,543 (GRCm39) |
L84P |
probably damaging |
Het |
Vmn1r23 |
C |
T |
6: 57,903,130 (GRCm39) |
R216K |
probably benign |
Het |
Vmn2r61 |
A |
G |
7: 41,949,364 (GRCm39) |
T595A |
probably benign |
Het |
Vmn2r66 |
T |
A |
7: 84,661,216 (GRCm39) |
I5F |
possibly damaging |
Het |
Zfp879 |
C |
T |
11: 50,723,839 (GRCm39) |
G406R |
probably damaging |
Het |
Zic2 |
A |
T |
14: 122,713,869 (GRCm39) |
D261V |
probably damaging |
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 |
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'- AACTGTAGGCAGGAGTTTGC -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'
Sequencing Primer
(F):5'- CAGGAGTTTGCAGGTTTTTCCCTAC -3'
(R):5'- GGTGGGGGAATTTAATTAATTTACCC -3'
|
Posted On |
2018-11-06 |