Incidental Mutation 'R1213:Rbm12'
ID |
99469 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rbm12
|
Ensembl Gene |
ENSMUSG00000089824 |
Gene Name |
RNA binding motif protein 12 |
Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
MMRRC Submission |
039282-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.902)
|
Stock # |
R1213 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
2 |
Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
G to A
at 155939412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 287
(Q287*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139175
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000132494]
[ENSMUST00000131377]
[ENSMUST00000133921]
[ENSMUST00000142960]
[ENSMUST00000154889]
[ENSMUST00000138068]
[ENSMUST00000147627]
[ENSMUST00000153634]
[ENSMUST00000136296]
[ENSMUST00000183518]
[ENSMUST00000184265]
[ENSMUST00000184899]
[ENSMUST00000183972]
[ENSMUST00000184152]
|
AlphaFold |
Q8R4X3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000059647
AA Change: Q287*
|
SMART Domains |
Protein: ENSMUSP00000050461 Gene: ENSMUSG00000089824 AA Change: Q287*
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000079312
|
SMART Domains |
Protein: ENSMUSP00000078292 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
468 |
8.96e-2 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000109604
AA Change: Q287*
|
SMART Domains |
Protein: ENSMUSP00000105233 Gene: ENSMUSG00000089824 AA Change: Q287*
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.1e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
low complexity region
|
655 |
767 |
N/A |
INTRINSIC |
low complexity region
|
781 |
812 |
N/A |
INTRINSIC |
low complexity region
|
866 |
908 |
N/A |
INTRINSIC |
RRM
|
917 |
990 |
1.03e-7 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109607
|
SMART Domains |
Protein: ENSMUSP00000105236 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000109608
|
SMART Domains |
Protein: ENSMUSP00000105237 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
VWA
|
282 |
484 |
9.5e-15 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000127956
AA Change: Q198*
|
SMART Domains |
Protein: ENSMUSP00000114923 Gene: ENSMUSG00000098950 AA Change: Q198*
Domain | Start | End | E-Value | Type |
low complexity region
|
10 |
28 |
N/A |
INTRINSIC |
low complexity region
|
73 |
172 |
N/A |
INTRINSIC |
RRM
|
217 |
287 |
1.05e-1 |
SMART |
RRM
|
343 |
415 |
2.73e-7 |
SMART |
RRM
|
457 |
529 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000128499
|
SMART Domains |
Protein: ENSMUSP00000118067 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
6e-8 |
PDB |
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000132494
AA Change: Q287*
|
SMART Domains |
Protein: ENSMUSP00000139175 Gene: ENSMUSG00000098950 AA Change: Q287*
Domain | Start | End | E-Value | Type |
Pfam:RRM_6
|
5 |
70 |
1.5e-5 |
PFAM |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
RRM
|
305 |
375 |
1.05e-1 |
SMART |
RRM
|
431 |
503 |
2.73e-7 |
SMART |
RRM
|
545 |
617 |
8.73e-6 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000131377
AA Change: Q287*
|
SMART Domains |
Protein: ENSMUSP00000120731 Gene: ENSMUSG00000089824 AA Change: Q287*
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
1e-7 |
PDB |
Blast:RRM_2
|
4 |
72 |
4e-29 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
low complexity region
|
161 |
260 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142975
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160165
|
SMART Domains |
Protein: ENSMUSP00000124858 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
PDB:1P3W|A
|
3 |
28 |
1e-6 |
PDB |
low complexity region
|
36 |
50 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000133921
|
SMART Domains |
Protein: ENSMUSP00000122644 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
Pfam:C2
|
139 |
178 |
3.3e-3 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142960
|
SMART Domains |
Protein: ENSMUSP00000121299 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
2.4e-11 |
SMART |
C2
|
123 |
206 |
3e-2 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000154889
|
SMART Domains |
Protein: ENSMUSP00000118140 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000138068
|
SMART Domains |
Protein: ENSMUSP00000119519 Gene: ENSMUSG00000089824
Domain | Start | End | E-Value | Type |
PDB:2DB1|A
|
2 |
86 |
5e-8 |
PDB |
Blast:RRM_2
|
4 |
72 |
1e-30 |
BLAST |
low complexity region
|
98 |
116 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147627
|
SMART Domains |
Protein: ENSMUSP00000116982 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
137 |
242 |
8.76e-12 |
SMART |
Pfam:Copine
|
303 |
350 |
1.3e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162612
|
SMART Domains |
Protein: ENSMUSP00000125190 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
1e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
2e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
161 |
1e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159952
|
SMART Domains |
Protein: ENSMUSP00000124101 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
SCOP:d1eg5a_
|
3 |
82 |
2e-15 |
SMART |
PDB:1P3W|A
|
3 |
86 |
3e-34 |
PDB |
low complexity region
|
93 |
106 |
N/A |
INTRINSIC |
Blast:RRM_2
|
124 |
160 |
2e-14 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000153634
|
SMART Domains |
Protein: ENSMUSP00000115167 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
325 |
4.1e-16 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000136296
|
SMART Domains |
Protein: ENSMUSP00000122994 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
C2
|
123 |
218 |
7.88e-5 |
SMART |
Pfam:Copine
|
279 |
378 |
2.3e-41 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183518
|
SMART Domains |
Protein: ENSMUSP00000139010 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
40 |
4e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184265
|
SMART Domains |
Protein: ENSMUSP00000138888 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184899
|
SMART Domains |
Protein: ENSMUSP00000139177 Gene: ENSMUSG00000098950
Domain | Start | End | E-Value | Type |
Blast:RRM_2
|
4 |
54 |
2e-25 |
BLAST |
SCOP:d2u1a__
|
9 |
68 |
6e-3 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000183972
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000184152
|
SMART Domains |
Protein: ENSMUSP00000139035 Gene: ENSMUSG00000074643
Domain | Start | End | E-Value | Type |
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.3%
- 10x: 95.2%
- 20x: 87.9%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a protein that contains several RNA-binding motifs, potential transmembrane domains, and proline-rich regions. This gene and the gene for copine I overlap at map location 2 H2. Two alternatively spliced transcript variants have been identified for this gene. Both variants encode the same protein. [provided by RefSeq, Jul 2008] PHENOTYPE: Mice homozygous for an ENU mutation exhibit open neural tube and embryonic growth retardation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Agfg1 |
T |
C |
1: 82,853,055 (GRCm39) |
S142P |
probably damaging |
Het |
Appl1 |
G |
A |
14: 26,665,950 (GRCm39) |
A388V |
probably benign |
Het |
Atp11a |
A |
G |
8: 12,892,859 (GRCm39) |
R70G |
probably benign |
Het |
Atrnl1 |
G |
A |
19: 57,626,894 (GRCm39) |
V167I |
probably benign |
Het |
Bfar |
T |
C |
16: 13,505,308 (GRCm39) |
I106T |
possibly damaging |
Het |
Cbx8 |
T |
C |
11: 118,930,359 (GRCm39) |
|
probably null |
Het |
Cd80 |
T |
C |
16: 38,294,245 (GRCm39) |
S43P |
probably damaging |
Het |
Fat4 |
G |
A |
3: 38,944,520 (GRCm39) |
A1138T |
probably benign |
Het |
Fcgbpl1 |
T |
C |
7: 27,857,098 (GRCm39) |
S2149P |
probably damaging |
Het |
Fmo3 |
C |
A |
1: 162,795,392 (GRCm39) |
G148W |
probably damaging |
Het |
Ftdc2 |
A |
T |
16: 58,458,057 (GRCm39) |
Y81* |
probably null |
Het |
Krt78 |
T |
C |
15: 101,860,245 (GRCm39) |
M224V |
probably benign |
Het |
Moxd2 |
A |
G |
6: 40,868,831 (GRCm39) |
|
probably benign |
Het |
Or13n4 |
T |
A |
7: 106,423,404 (GRCm39) |
T110S |
possibly damaging |
Het |
Or2y14 |
T |
A |
11: 49,405,421 (GRCm39) |
*319K |
probably null |
Het |
Or6d15 |
A |
G |
6: 116,559,827 (GRCm39) |
S27P |
probably benign |
Het |
Pax6 |
G |
A |
2: 105,516,258 (GRCm39) |
G179R |
probably benign |
Het |
Rtel1 |
T |
A |
2: 180,993,128 (GRCm39) |
H703Q |
probably benign |
Het |
Spag17 |
A |
G |
3: 100,002,954 (GRCm39) |
R1893G |
probably benign |
Het |
Synpo |
A |
G |
18: 60,735,525 (GRCm39) |
V807A |
possibly damaging |
Het |
|
Other mutations in Rbm12 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00578:Rbm12
|
APN |
2 |
155,937,961 (GRCm39) |
intron |
probably benign |
|
IGL01307:Rbm12
|
APN |
2 |
155,937,302 (GRCm39) |
intron |
probably benign |
|
IGL02474:Rbm12
|
APN |
2 |
155,940,017 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02596:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02601:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02603:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02608:Rbm12
|
APN |
2 |
155,937,818 (GRCm39) |
intron |
probably benign |
|
IGL02679:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02691:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02693:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02702:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL02703:Rbm12
|
APN |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
IGL03407:Rbm12
|
APN |
2 |
155,939,484 (GRCm39) |
nonsense |
probably null |
|
IGL02991:Rbm12
|
UTSW |
2 |
155,937,480 (GRCm39) |
intron |
probably benign |
|
R0310:Rbm12
|
UTSW |
2 |
155,937,644 (GRCm39) |
intron |
probably benign |
|
R1280:Rbm12
|
UTSW |
2 |
155,938,749 (GRCm39) |
missense |
probably damaging |
1.00 |
R1511:Rbm12
|
UTSW |
2 |
155,939,456 (GRCm39) |
missense |
probably damaging |
0.98 |
R1951:Rbm12
|
UTSW |
2 |
155,939,133 (GRCm39) |
missense |
probably damaging |
0.99 |
R2131:Rbm12
|
UTSW |
2 |
155,937,430 (GRCm39) |
nonsense |
probably null |
|
R2133:Rbm12
|
UTSW |
2 |
155,937,430 (GRCm39) |
nonsense |
probably null |
|
R2883:Rbm12
|
UTSW |
2 |
155,938,995 (GRCm39) |
missense |
probably damaging |
0.98 |
R4760:Rbm12
|
UTSW |
2 |
155,939,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R4783:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4784:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4785:Rbm12
|
UTSW |
2 |
155,938,484 (GRCm39) |
missense |
possibly damaging |
0.95 |
R4794:Rbm12
|
UTSW |
2 |
155,937,489 (GRCm39) |
intron |
probably benign |
|
R5057:Rbm12
|
UTSW |
2 |
155,938,806 (GRCm39) |
missense |
probably benign |
0.18 |
R5383:Rbm12
|
UTSW |
2 |
155,945,285 (GRCm39) |
utr 5 prime |
probably benign |
|
R5599:Rbm12
|
UTSW |
2 |
155,938,713 (GRCm39) |
nonsense |
probably null |
|
R5979:Rbm12
|
UTSW |
2 |
155,939,679 (GRCm39) |
intron |
probably benign |
|
R6083:Rbm12
|
UTSW |
2 |
155,939,646 (GRCm39) |
intron |
probably benign |
|
R6769:Rbm12
|
UTSW |
2 |
155,939,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
R6771:Rbm12
|
UTSW |
2 |
155,939,375 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7233:Rbm12
|
UTSW |
2 |
155,937,894 (GRCm39) |
missense |
unknown |
|
R7424:Rbm12
|
UTSW |
2 |
155,939,223 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7483:Rbm12
|
UTSW |
2 |
155,940,138 (GRCm39) |
missense |
unknown |
|
R7643:Rbm12
|
UTSW |
2 |
155,940,137 (GRCm39) |
missense |
unknown |
|
R7848:Rbm12
|
UTSW |
2 |
155,938,136 (GRCm39) |
missense |
probably benign |
0.01 |
R8556:Rbm12
|
UTSW |
2 |
155,938,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R8866:Rbm12
|
UTSW |
2 |
155,938,693 (GRCm39) |
nonsense |
probably null |
|
R8875:Rbm12
|
UTSW |
2 |
155,938,841 (GRCm39) |
missense |
probably damaging |
1.00 |
R9054:Rbm12
|
UTSW |
2 |
155,937,481 (GRCm39) |
missense |
unknown |
|
R9115:Rbm12
|
UTSW |
2 |
155,938,030 (GRCm39) |
intron |
probably benign |
|
R9179:Rbm12
|
UTSW |
2 |
155,938,463 (GRCm39) |
missense |
probably benign |
0.05 |
R9262:Rbm12
|
UTSW |
2 |
155,939,317 (GRCm39) |
missense |
possibly damaging |
0.49 |
R9495:Rbm12
|
UTSW |
2 |
155,939,738 (GRCm39) |
missense |
unknown |
|
R9656:Rbm12
|
UTSW |
2 |
155,940,121 (GRCm39) |
missense |
unknown |
|
R9701:Rbm12
|
UTSW |
2 |
155,938,166 (GRCm39) |
missense |
probably benign |
0.01 |
R9759:Rbm12
|
UTSW |
2 |
155,938,546 (GRCm39) |
missense |
probably benign |
0.03 |
RF001:Rbm12
|
UTSW |
2 |
155,937,995 (GRCm39) |
intron |
probably benign |
|
RF021:Rbm12
|
UTSW |
2 |
155,938,026 (GRCm39) |
intron |
probably benign |
|
RF028:Rbm12
|
UTSW |
2 |
155,938,050 (GRCm39) |
frame shift |
probably null |
|
RF029:Rbm12
|
UTSW |
2 |
155,938,015 (GRCm39) |
intron |
probably benign |
|
RF033:Rbm12
|
UTSW |
2 |
155,938,002 (GRCm39) |
intron |
probably benign |
|
RF033:Rbm12
|
UTSW |
2 |
155,938,000 (GRCm39) |
intron |
probably benign |
|
RF033:Rbm12
|
UTSW |
2 |
155,937,999 (GRCm39) |
intron |
probably benign |
|
RF033:Rbm12
|
UTSW |
2 |
155,938,004 (GRCm39) |
intron |
probably benign |
|
RF033:Rbm12
|
UTSW |
2 |
155,938,003 (GRCm39) |
intron |
probably benign |
|
RF038:Rbm12
|
UTSW |
2 |
155,938,026 (GRCm39) |
intron |
probably benign |
|
|
Predicted Primers |
PCR Primer
(F):5'- TGATATGACCTCCAGCAGCTACCC -3'
(R):5'- ACCTATGACCACACTGCCTCCTATG -3'
Sequencing Primer
(F):5'- GGCAGGACTGACTTCCACATAG -3'
(R):5'- ACACTGCCTCCTATGTCAGG -3'
|
Posted On |
2014-01-15 |