Incidental Mutation 'R8051:Rbm33'
ID |
619044 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm33
|
Ensembl Gene |
ENSMUSG00000048271 |
Gene Name |
RNA binding motif protein 33 |
Synonyms |
3200001K10Rik, 6430512A10Rik, Prr8 |
MMRRC Submission |
067488-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8051 (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 G
at 28557623 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 279
(N279D)
|
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: N279D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000030920 Gene: ENSMUSG00000048271 AA Change: N279D
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: N279D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000062449 Gene: ENSMUSG00000048271 AA Change: N279D
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: N239D
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000091512 Gene: ENSMUSG00000048271 AA Change: N239D
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: N239D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000110534 Gene: ENSMUSG00000048271 AA Change: N239D
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: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (49/49) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acan |
T |
A |
7: 78,750,527 (GRCm39) |
L1766Q |
probably damaging |
Het |
Adgrl3 |
A |
G |
5: 81,613,113 (GRCm39) |
Y114C |
probably damaging |
Het |
Ano9 |
T |
A |
7: 140,684,445 (GRCm39) |
I472F |
probably damaging |
Het |
Arhgap10 |
A |
G |
8: 78,244,309 (GRCm39) |
F35S |
probably damaging |
Het |
Bltp2 |
G |
A |
11: 78,164,238 (GRCm39) |
|
probably benign |
Het |
Btnl2 |
T |
A |
17: 34,582,473 (GRCm39) |
D346E |
probably damaging |
Het |
C4bp |
A |
T |
1: 130,583,705 (GRCm39) |
C88S |
probably damaging |
Het |
Cavin2 |
A |
T |
1: 51,340,283 (GRCm39) |
Q320L |
probably benign |
Het |
Chtf18 |
C |
A |
17: 25,942,453 (GRCm39) |
V462L |
probably benign |
Het |
Crisp3 |
A |
T |
17: 40,543,451 (GRCm39) |
S134R |
probably benign |
Het |
Dlg4 |
C |
A |
11: 69,922,468 (GRCm39) |
|
probably benign |
Het |
Dsc3 |
A |
T |
18: 20,114,270 (GRCm39) |
M328K |
probably damaging |
Het |
Efemp2 |
T |
A |
19: 5,526,095 (GRCm39) |
D73E |
probably damaging |
Het |
Fbn1 |
C |
T |
2: 125,148,383 (GRCm39) |
A2622T |
possibly damaging |
Het |
Flt1 |
T |
C |
5: 147,519,501 (GRCm39) |
H938R |
probably benign |
Het |
Flt3 |
T |
G |
5: 147,295,765 (GRCm39) |
|
probably benign |
Het |
Fnbp4 |
T |
C |
2: 90,608,083 (GRCm39) |
V935A |
possibly damaging |
Het |
Frem2 |
T |
C |
3: 53,442,776 (GRCm39) |
N2587S |
probably benign |
Het |
Gabbr2 |
C |
T |
4: 46,736,349 (GRCm39) |
|
probably null |
Het |
Gm36864 |
A |
T |
7: 43,891,976 (GRCm39) |
I385F |
probably benign |
Het |
Il17re |
G |
T |
6: 113,436,328 (GRCm39) |
R47L |
probably benign |
Het |
Il27ra |
A |
G |
8: 84,760,578 (GRCm39) |
|
probably null |
Het |
Irf4 |
A |
G |
13: 30,945,456 (GRCm39) |
I401V |
probably damaging |
Het |
Kat6a |
T |
C |
8: 23,400,265 (GRCm39) |
L342S |
probably damaging |
Het |
Klc1 |
T |
A |
12: 111,748,384 (GRCm39) |
C390S |
possibly damaging |
Het |
Klhl22 |
A |
T |
16: 17,610,443 (GRCm39) |
I565F |
probably damaging |
Het |
Krt26 |
A |
T |
11: 99,228,672 (GRCm39) |
L20Q |
probably damaging |
Het |
Lamb3 |
T |
C |
1: 193,012,375 (GRCm39) |
V384A |
possibly damaging |
Het |
Lmo2 |
T |
A |
2: 103,801,045 (GRCm39) |
L80Q |
possibly damaging |
Het |
Lrrc37a |
T |
G |
11: 103,393,952 (GRCm39) |
E491A |
possibly damaging |
Het |
Ninj1 |
T |
A |
13: 49,347,288 (GRCm39) |
M51K |
probably damaging |
Het |
Or11g26 |
C |
A |
14: 50,753,100 (GRCm39) |
N146K |
probably benign |
Het |
Or12d17 |
G |
A |
17: 37,777,213 (GRCm39) |
G39R |
probably damaging |
Het |
Plppr3 |
T |
A |
10: 79,702,838 (GRCm39) |
T142S |
probably damaging |
Het |
Rab2b |
T |
C |
14: 52,506,153 (GRCm39) |
D103G |
probably damaging |
Het |
Rap1gap2 |
G |
T |
11: 74,286,651 (GRCm39) |
R550S |
probably damaging |
Het |
Rhox9 |
C |
T |
X: 36,990,253 (GRCm39) |
G40R |
probably benign |
Het |
Selplg |
G |
A |
5: 113,957,502 (GRCm39) |
T268I |
probably damaging |
Het |
Slc20a1 |
T |
C |
2: 129,050,120 (GRCm39) |
M426T |
possibly damaging |
Het |
Spata18 |
A |
T |
5: 73,827,063 (GRCm39) |
Y220F |
|
Het |
Spns1 |
T |
C |
7: 125,971,708 (GRCm39) |
T281A |
probably benign |
Het |
Sptan1 |
C |
T |
2: 29,920,171 (GRCm39) |
R2288C |
probably damaging |
Het |
Tacstd2 |
T |
C |
6: 67,512,383 (GRCm39) |
D103G |
probably damaging |
Het |
Tmem121 |
C |
T |
12: 113,152,487 (GRCm39) |
A235V |
probably benign |
Het |
Try4 |
A |
G |
6: 41,281,996 (GRCm39) |
D194G |
probably damaging |
Het |
Tyrp1 |
C |
A |
4: 80,755,897 (GRCm39) |
T222K |
probably damaging |
Het |
Zfp57 |
T |
A |
17: 37,320,785 (GRCm39) |
V213D |
probably damaging |
Het |
Zfy2 |
A |
T |
Y: 2,117,380 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
G |
A |
13: 21,668,823 (GRCm39) |
G454R |
not run |
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 |
|
|
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'- CCAGGCACTTTGAGCTGTAC -3'
(R):5'- TGAGCATAGCACAACTGGGC -3'
Sequencing Primer
(F):5'- AAGTGACTGTGTACTCATTCTCTC -3'
(R):5'- GCACCAGCCTCACTTATACCATG -3'
|
Posted On |
2020-01-23 |