Incidental Mutation 'R6668:Rbm33'
| ID |
527059 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm33
|
| Ensembl Gene |
ENSMUSG00000048271 |
| Gene Name |
RNA binding motif protein 33 |
| Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
| MMRRC Submission |
044788-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6668 (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 A
at 28547498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 223
(S223T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000062449
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030920]
[ENSMUST00000059644]
[ENSMUST00000090355]
[ENSMUST00000114884]
|
| AlphaFold |
Q9CXK9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030920
AA Change: S223T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: S223T
| 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: S223T
PolyPhen 2
Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: S223T
| 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
|
| SMART Domains |
Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
| 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
|
| SMART Domains |
Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 94.8%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aanat |
G |
T |
11: 116,486,868 (GRCm39) |
|
probably benign |
Het |
| Adam26b |
A |
T |
8: 43,973,727 (GRCm39) |
V425D |
possibly damaging |
Het |
| Ahctf1 |
A |
G |
1: 179,579,972 (GRCm39) |
S2077P |
probably benign |
Het |
| Amacr |
A |
G |
15: 10,983,468 (GRCm39) |
T93A |
probably benign |
Het |
| Arsb |
T |
A |
13: 93,930,728 (GRCm39) |
|
probably null |
Het |
| Bcas3 |
G |
A |
11: 85,692,677 (GRCm39) |
R354Q |
probably damaging |
Het |
| Chia1 |
C |
T |
3: 106,038,264 (GRCm39) |
L387F |
probably damaging |
Het |
| Cyp24a1 |
A |
T |
2: 170,327,805 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
G |
A |
9: 64,794,247 (GRCm39) |
G689S |
probably damaging |
Het |
| Elovl4 |
G |
A |
9: 83,688,039 (GRCm39) |
A18V |
probably benign |
Het |
| Fam135a |
A |
T |
1: 24,067,929 (GRCm39) |
V80E |
probably damaging |
Het |
| Fmo2 |
T |
A |
1: 162,704,617 (GRCm39) |
T430S |
probably benign |
Het |
| Fpgs |
T |
C |
2: 32,577,618 (GRCm39) |
I213V |
probably benign |
Het |
| Gm10134 |
A |
T |
2: 28,396,263 (GRCm39) |
R53* |
probably null |
Het |
| Gpat2 |
G |
C |
2: 127,273,838 (GRCm39) |
G294R |
possibly damaging |
Het |
| Ift172 |
T |
C |
5: 31,412,683 (GRCm39) |
N1524S |
probably benign |
Het |
| Kif1b |
G |
A |
4: 149,297,864 (GRCm39) |
S1104F |
probably benign |
Het |
| Map3k21 |
T |
C |
8: 126,652,852 (GRCm39) |
V326A |
possibly damaging |
Het |
| Mlst8 |
A |
G |
17: 24,696,453 (GRCm39) |
|
probably null |
Het |
| Muc16 |
A |
T |
9: 18,551,681 (GRCm39) |
S4871T |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,474,701 (GRCm39) |
|
probably benign |
Het |
| Ndufa3 |
A |
G |
7: 3,622,465 (GRCm39) |
Y41C |
probably damaging |
Het |
| Nfkbid |
T |
A |
7: 30,123,866 (GRCm39) |
L142Q |
probably benign |
Het |
| Or8b38 |
T |
A |
9: 37,973,066 (GRCm39) |
M150K |
possibly damaging |
Het |
| Peg10 |
T |
A |
6: 4,754,502 (GRCm39) |
D94E |
probably benign |
Het |
| Phactr3 |
A |
T |
2: 177,974,657 (GRCm39) |
I492F |
probably damaging |
Het |
| Plxna2 |
T |
C |
1: 194,492,396 (GRCm39) |
V1751A |
possibly damaging |
Het |
| Prss16 |
T |
C |
13: 22,190,918 (GRCm39) |
E238G |
probably null |
Het |
| Rad51ap2 |
T |
C |
12: 11,507,647 (GRCm39) |
V523A |
probably benign |
Het |
| Ryk |
T |
A |
9: 102,746,475 (GRCm39) |
F137I |
possibly damaging |
Het |
| Sars2 |
G |
A |
7: 28,446,429 (GRCm39) |
E194K |
probably benign |
Het |
| Spata2l |
T |
C |
8: 123,960,167 (GRCm39) |
D374G |
probably damaging |
Het |
| Tenm2 |
A |
G |
11: 35,937,592 (GRCm39) |
|
probably null |
Het |
| Ubr4 |
A |
G |
4: 139,192,652 (GRCm39) |
K1097E |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 121,017,408 (GRCm39) |
V690E |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,410,659 (GRCm39) |
N2703S |
probably damaging |
Het |
| Zfp273 |
C |
G |
13: 67,973,243 (GRCm39) |
L124V |
probably damaging |
Het |
| Zfp608 |
A |
G |
18: 55,031,091 (GRCm39) |
S950P |
probably damaging |
Het |
| Zfp994 |
A |
T |
17: 22,420,081 (GRCm39) |
H289Q |
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 |
|
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'- ATGTGCTCTGTCAGGGCATC -3'
(R):5'- GAACTCACTTCTCTAGGCCC -3'
Sequencing Primer
(F):5'- GGCATCCCCACAGTAGAATG -3'
(R):5'- CAGGCTTGGGCTTCTACTACAAG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation