Incidental Mutation 'R9376:Rbm33'
| ID |
709612 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm33
|
| Ensembl Gene |
ENSMUSG00000048271 |
| Gene Name |
RNA binding motif protein 33 |
| Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9376 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
28522119-28624237 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 28544164 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 140
(Y140C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030920]
[ENSMUST00000059644]
[ENSMUST00000090355]
[ENSMUST00000114884]
|
| AlphaFold |
Q9CXK9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030920
AA Change: Y140C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030920
Gene: ENSMUSG00000048271
AA Change: Y140C
| 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: Y140C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000062449
Gene: ENSMUSG00000048271
AA Change: Y140C
| 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 damaging
Transcript: ENSMUST00000090355
AA Change: Y140C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000091512
Gene: ENSMUSG00000048271
AA Change: Y140C
| 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: Y140C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110534
Gene: ENSMUSG00000048271
AA Change: Y140C
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca14 |
T |
A |
7: 119,893,438 (GRCm39) |
L1296H |
probably damaging |
Het |
| Abcb4 |
A |
T |
5: 9,008,988 (GRCm39) |
D1215V |
probably damaging |
Het |
| Ache |
A |
C |
5: 137,289,025 (GRCm39) |
I244L |
probably benign |
Het |
| Ankrd13d |
A |
T |
19: 4,332,250 (GRCm39) |
V58D |
probably damaging |
Het |
| Ano3 |
A |
G |
2: 110,496,782 (GRCm39) |
L789S |
probably damaging |
Het |
| Atp2a3 |
T |
C |
11: 72,863,290 (GRCm39) |
V129A |
probably damaging |
Het |
| Cldn11 |
T |
C |
3: 31,217,410 (GRCm39) |
S193P |
possibly damaging |
Het |
| Clpb |
A |
T |
7: 101,360,625 (GRCm39) |
R218S |
probably benign |
Het |
| Cntln |
A |
G |
4: 84,875,258 (GRCm39) |
S231G |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,639,591 (GRCm39) |
Y574H |
probably damaging |
Het |
| Col6a3 |
C |
T |
1: 90,709,523 (GRCm39) |
R2498H |
unknown |
Het |
| Ctdnep1 |
T |
C |
11: 69,875,594 (GRCm39) |
V108A |
probably damaging |
Het |
| Cyp2c67 |
A |
T |
19: 39,627,178 (GRCm39) |
N217K |
probably damaging |
Het |
| Dao |
T |
A |
5: 114,147,901 (GRCm39) |
M1K |
probably null |
Het |
| Dchs1 |
A |
G |
7: 105,414,981 (GRCm39) |
|
probably null |
Het |
| Dennd4a |
A |
T |
9: 64,819,974 (GRCm39) |
I1809L |
probably benign |
Het |
| Dnah7a |
T |
A |
1: 53,568,058 (GRCm39) |
|
probably null |
Het |
| Epn1 |
A |
T |
7: 5,086,720 (GRCm39) |
|
probably benign |
Het |
| Erich1 |
A |
G |
8: 14,080,719 (GRCm39) |
S267P |
probably damaging |
Het |
| Gm17732 |
G |
T |
18: 62,795,936 (GRCm39) |
V41L |
probably damaging |
Het |
| Gpaa1 |
C |
A |
15: 76,218,826 (GRCm39) |
T556K |
possibly damaging |
Het |
| Gpr65 |
T |
A |
12: 98,241,523 (GRCm39) |
S59T |
probably damaging |
Het |
| Hydin |
T |
C |
8: 111,124,695 (GRCm39) |
V568A |
possibly damaging |
Het |
| Ifi205 |
T |
C |
1: 173,854,221 (GRCm39) |
D144G |
probably benign |
Het |
| Itga1 |
T |
C |
13: 115,107,112 (GRCm39) |
H993R |
probably benign |
Het |
| Itgax |
T |
C |
7: 127,747,935 (GRCm39) |
L1075P |
possibly damaging |
Het |
| Itpr1 |
T |
A |
6: 108,326,638 (GRCm39) |
V120E |
probably damaging |
Het |
| Kdm3b |
T |
C |
18: 34,970,718 (GRCm39) |
S1762P |
probably damaging |
Het |
| Krt80 |
T |
A |
15: 101,247,978 (GRCm39) |
T221S |
unknown |
Het |
| Lama2 |
T |
C |
10: 26,994,620 (GRCm39) |
D1763G |
probably benign |
Het |
| Lrp5 |
T |
C |
19: 3,670,286 (GRCm39) |
D606G |
probably benign |
Het |
| Map6d1 |
T |
C |
16: 20,059,933 (GRCm39) |
D44G |
probably benign |
Het |
| Mtmr11 |
T |
A |
3: 96,072,372 (GRCm39) |
I282K |
probably benign |
Het |
| Nalcn |
G |
A |
14: 123,515,713 (GRCm39) |
T1696M |
possibly damaging |
Het |
| Nup214 |
T |
C |
2: 31,924,244 (GRCm39) |
V1591A |
probably benign |
Het |
| Oas1f |
C |
A |
5: 120,986,243 (GRCm39) |
Y65* |
probably null |
Het |
| Or1x6 |
T |
A |
11: 50,939,662 (GRCm39) |
C243S |
probably damaging |
Het |
| Or2t43 |
T |
A |
11: 58,457,683 (GRCm39) |
T163S |
possibly damaging |
Het |
| Or2t46 |
T |
C |
11: 58,472,636 (GRCm39) |
V322A |
probably benign |
Het |
| Or51f1e |
A |
T |
7: 102,746,971 (GRCm39) |
T8S |
probably benign |
Het |
| Or5p58 |
A |
T |
7: 107,694,471 (GRCm39) |
I102K |
possibly damaging |
Het |
| Palld |
C |
T |
8: 61,969,691 (GRCm39) |
R1211H |
unknown |
Het |
| Pigyl |
A |
G |
9: 22,069,324 (GRCm39) |
I12V |
probably benign |
Het |
| Pno1 |
A |
T |
11: 17,158,791 (GRCm39) |
D202E |
probably benign |
Het |
| Ppp5c |
A |
T |
7: 16,743,849 (GRCm39) |
M195K |
probably damaging |
Het |
| Prrc2a |
A |
T |
17: 35,369,598 (GRCm39) |
F1905Y |
possibly damaging |
Het |
| Ptpn11 |
C |
A |
5: 121,282,681 (GRCm39) |
D435Y |
probably damaging |
Het |
| Runx1t1 |
A |
G |
4: 13,865,225 (GRCm39) |
E339G |
possibly damaging |
Het |
| Scube3 |
G |
T |
17: 28,383,670 (GRCm39) |
K480N |
possibly damaging |
Het |
| Sephs1 |
T |
A |
2: 4,910,469 (GRCm39) |
M313K |
probably benign |
Het |
| Tcaim |
T |
C |
9: 122,655,995 (GRCm39) |
W304R |
probably damaging |
Het |
| Terf2ip |
C |
T |
8: 112,738,514 (GRCm39) |
T134I |
probably damaging |
Het |
| Terf2ip |
A |
G |
8: 112,744,528 (GRCm39) |
T282A |
probably benign |
Het |
| Tnfrsf18 |
G |
T |
4: 156,112,448 (GRCm39) |
A102S |
probably benign |
Het |
| Trim10 |
A |
T |
17: 37,184,168 (GRCm39) |
I254F |
probably benign |
Het |
| Triqk |
A |
G |
4: 12,962,987 (GRCm39) |
T9A |
probably benign |
Het |
| Tshz2 |
G |
A |
2: 169,726,013 (GRCm39) |
S203N |
probably benign |
Het |
| Zc3h13 |
G |
A |
14: 75,561,128 (GRCm39) |
V573I |
unknown |
Het |
| Zfhx4 |
A |
G |
3: 5,306,833 (GRCm39) |
K20E |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,465,395 (GRCm39) |
D1876G |
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 |
|
|
|
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 |
|
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'- ATGAGCCTCCTCTCAGTGTATC -3'
(R):5'- GGAAGCCATGTTATCTTTGGCC -3'
Sequencing Primer
(F):5'- TTGTCATCTAGTTCTCAGGGTGTCAC -3'
(R):5'- CTTTGGCCATTCAAAAGAGAAAAGAC -3'
|
| Posted On |
2022-04-18 |
Incidental Mutation