Incidental Mutation 'R4783:Rbm12'
| ID |
366703 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
| MMRRC Submission |
042416-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R4783 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 155938484 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 596
(D596G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000132494]
[ENSMUST00000154889]
[ENSMUST00000153634]
[ENSMUST00000183518]
[ENSMUST00000133921]
[ENSMUST00000142960]
[ENSMUST00000138068]
[ENSMUST00000147627]
[ENSMUST00000136296]
[ENSMUST00000131377]
[ENSMUST00000184899]
[ENSMUST00000184152]
[ENSMUST00000184265]
[ENSMUST00000183972]
|
| AlphaFold |
Q8R4X3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059647
AA Change: D596G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: D596G
| 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 |
possibly damaging
Transcript: ENSMUST00000109604
AA Change: D596G
PolyPhen 2
Score 0.950 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: D596G
| 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 |
unknown
Transcript: ENSMUST00000127956
AA Change: D507G
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: D507G
| 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 |
possibly damaging
Transcript: ENSMUST00000132494
AA Change: D596G
PolyPhen 2
Score 0.631 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: D596G
| 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 |
noncoding transcript
Transcript: ENSMUST00000142975
|
| 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: 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000131377
|
| SMART Domains |
Protein: ENSMUSP00000120731
Gene: ENSMUSG00000089824
| 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 |
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: ENSMUST00000184152
|
| SMART Domains |
Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| 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: ENSMUST00000183972
|
| Meta Mutation Damage Score |
0.2278 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.6%
|
| Validation Efficiency |
100% (99/99) |
| 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: 95 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3110082J24Rik |
G |
A |
5: 30,310,198 (GRCm39) |
R54* |
probably null |
Het |
| Acsl6 |
A |
T |
11: 54,227,819 (GRCm39) |
M350L |
probably damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,243,564 (GRCm39) |
T6279A |
probably damaging |
Het |
| Ago3 |
A |
T |
4: 126,262,296 (GRCm39) |
M418K |
probably benign |
Het |
| Ascc2 |
G |
A |
11: 4,596,653 (GRCm39) |
R58H |
probably benign |
Het |
| Brinp3 |
A |
G |
1: 146,603,378 (GRCm39) |
|
probably benign |
Het |
| Carmil3 |
T |
C |
14: 55,738,778 (GRCm39) |
|
probably null |
Het |
| Ccdc47 |
T |
A |
11: 106,094,430 (GRCm39) |
H7L |
probably benign |
Het |
| Ccndbp1 |
A |
T |
2: 120,839,003 (GRCm39) |
T5S |
probably benign |
Het |
| Cdr2 |
A |
T |
7: 120,557,644 (GRCm39) |
F294I |
probably benign |
Het |
| Chd8 |
C |
A |
14: 52,442,825 (GRCm39) |
C575F |
probably damaging |
Het |
| Ctsll3 |
G |
A |
13: 60,948,209 (GRCm39) |
T156I |
probably damaging |
Het |
| Dgcr8 |
G |
A |
16: 18,076,174 (GRCm39) |
R4* |
probably null |
Het |
| Dnah1 |
T |
A |
14: 30,985,436 (GRCm39) |
K3818N |
probably damaging |
Het |
| Dok2 |
C |
T |
14: 71,015,314 (GRCm39) |
P347L |
probably benign |
Het |
| Elf1 |
T |
A |
14: 79,818,183 (GRCm39) |
N567K |
probably benign |
Het |
| Emsy |
T |
C |
7: 98,295,686 (GRCm39) |
N72S |
possibly damaging |
Het |
| Fam76a |
A |
G |
4: 132,643,501 (GRCm39) |
Y78H |
probably damaging |
Het |
| Fam76a |
A |
T |
4: 132,629,428 (GRCm39) |
|
probably null |
Het |
| Fbn1 |
A |
T |
2: 125,166,839 (GRCm39) |
C2026S |
probably damaging |
Het |
| Fbxo4 |
T |
C |
15: 3,998,523 (GRCm39) |
T312A |
probably benign |
Het |
| Fhip1a |
G |
T |
3: 85,595,877 (GRCm39) |
T115K |
probably damaging |
Het |
| Flnb |
A |
T |
14: 7,905,701 (GRCm38) |
E1150D |
probably benign |
Het |
| Galt |
T |
C |
4: 41,758,189 (GRCm39) |
V318A |
probably damaging |
Het |
| Git1 |
T |
G |
11: 77,390,663 (GRCm39) |
L133R |
probably damaging |
Het |
| Gm11168 |
G |
A |
9: 3,006,915 (GRCm39) |
M213I |
probably benign |
Het |
| Gm7233 |
A |
G |
14: 43,037,423 (GRCm39) |
E25G |
probably benign |
Het |
| Golga2 |
T |
A |
2: 32,187,168 (GRCm39) |
N89K |
probably damaging |
Het |
| Grin1 |
T |
A |
2: 25,182,393 (GRCm39) |
H956L |
possibly damaging |
Het |
| Hlcs |
C |
T |
16: 94,069,398 (GRCm39) |
V164I |
possibly damaging |
Het |
| Hmgcr |
G |
A |
13: 96,802,701 (GRCm39) |
T66M |
probably damaging |
Het |
| Ifi206 |
A |
T |
1: 173,308,432 (GRCm39) |
H521Q |
probably benign |
Het |
| Lgals3bp |
G |
A |
11: 118,284,340 (GRCm39) |
T413I |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,832,850 (GRCm39) |
|
probably null |
Het |
| Mapk11 |
T |
C |
15: 89,033,691 (GRCm39) |
Y9C |
probably damaging |
Het |
| Mccc1 |
C |
A |
3: 36,030,022 (GRCm39) |
M429I |
probably damaging |
Het |
| Metrnl |
A |
G |
11: 121,598,750 (GRCm39) |
E40G |
probably benign |
Het |
| Mrgpra1 |
A |
G |
7: 46,985,218 (GRCm39) |
S154P |
probably damaging |
Het |
| Myh13 |
A |
T |
11: 67,232,096 (GRCm39) |
I459F |
probably damaging |
Het |
| Nalf1 |
T |
C |
8: 9,258,026 (GRCm39) |
Y374C |
probably damaging |
Het |
| Nedd4l |
C |
A |
18: 65,305,998 (GRCm39) |
D424E |
probably damaging |
Het |
| Nid1 |
C |
T |
13: 13,674,326 (GRCm39) |
R902W |
probably damaging |
Het |
| Nphp4 |
G |
A |
4: 152,639,003 (GRCm39) |
R878K |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,773 (GRCm39) |
T1997A |
probably damaging |
Het |
| Nutm1 |
G |
A |
2: 112,079,281 (GRCm39) |
A878V |
probably benign |
Het |
| Nxf1 |
G |
A |
19: 8,744,162 (GRCm39) |
A339T |
probably benign |
Het |
| Oas1b |
C |
A |
5: 120,952,578 (GRCm39) |
Q90K |
probably benign |
Het |
| Optn |
T |
C |
2: 5,059,438 (GRCm39) |
M27V |
probably benign |
Het |
| Or1r1 |
A |
G |
11: 73,874,834 (GRCm39) |
F200S |
probably damaging |
Het |
| Or2t35 |
A |
C |
14: 14,407,729 (GRCm38) |
Y167S |
possibly damaging |
Het |
| Or4f56 |
A |
T |
2: 111,703,395 (GRCm39) |
D268E |
possibly damaging |
Het |
| Or5ac17 |
G |
T |
16: 59,036,222 (GRCm39) |
F251L |
probably damaging |
Het |
| Or5d45 |
A |
G |
2: 88,153,500 (GRCm39) |
I183T |
probably damaging |
Het |
| Or5g29 |
A |
G |
2: 85,421,282 (GRCm39) |
T133A |
probably benign |
Het |
| Or5h18 |
G |
T |
16: 58,848,260 (GRCm39) |
D3E |
probably benign |
Het |
| Oxgr1 |
T |
C |
14: 120,259,776 (GRCm39) |
I144V |
probably benign |
Het |
| Pax5 |
T |
A |
4: 44,570,086 (GRCm39) |
T127S |
probably damaging |
Het |
| Pcsk2 |
T |
C |
2: 143,529,599 (GRCm39) |
|
probably null |
Het |
| Pdxk |
A |
G |
10: 78,300,626 (GRCm39) |
V19A |
possibly damaging |
Het |
| Pik3c2a |
A |
T |
7: 116,017,060 (GRCm39) |
S232R |
probably damaging |
Het |
| Ppip5k1 |
T |
C |
2: 121,171,329 (GRCm39) |
D620G |
possibly damaging |
Het |
| Ppp4r4 |
T |
A |
12: 103,557,117 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
A |
G |
1: 86,006,434 (GRCm39) |
N267D |
probably damaging |
Het |
| Pudp |
A |
G |
18: 50,701,136 (GRCm39) |
V199A |
probably damaging |
Het |
| Rasal3 |
T |
A |
17: 32,615,755 (GRCm39) |
D361V |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,730,102 (GRCm39) |
D182G |
probably damaging |
Het |
| Rif1 |
T |
C |
2: 52,002,759 (GRCm39) |
V2071A |
probably damaging |
Het |
| Rilp |
C |
T |
11: 75,401,467 (GRCm39) |
A110V |
possibly damaging |
Het |
| Rprd2 |
A |
G |
3: 95,681,645 (GRCm39) |
V332A |
probably benign |
Het |
| Sbpl |
T |
A |
17: 24,172,304 (GRCm39) |
D205V |
unknown |
Het |
| Scn9a |
T |
C |
2: 66,370,967 (GRCm39) |
I538V |
probably benign |
Het |
| Serpina1d |
T |
C |
12: 103,734,083 (GRCm39) |
S74G |
possibly damaging |
Het |
| Serpina3n |
T |
C |
12: 104,375,369 (GRCm39) |
I147T |
possibly damaging |
Het |
| Serpinb8 |
A |
G |
1: 107,532,472 (GRCm39) |
N188S |
probably benign |
Het |
| Sipa1l3 |
A |
G |
7: 29,077,066 (GRCm39) |
V902A |
probably damaging |
Het |
| Slc25a47 |
T |
A |
12: 108,821,260 (GRCm39) |
L123Q |
probably damaging |
Het |
| Slc30a2 |
A |
T |
4: 134,071,317 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
G |
T |
4: 139,027,312 (GRCm39) |
H343Q |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,148,285 (GRCm39) |
D271E |
probably damaging |
Het |
| Tbc1d9b |
A |
G |
11: 50,062,125 (GRCm39) |
N1211S |
probably benign |
Het |
| Tdrd3 |
T |
A |
14: 87,709,537 (GRCm39) |
I67N |
probably damaging |
Het |
| Thbs1 |
T |
C |
2: 117,945,273 (GRCm39) |
V282A |
probably benign |
Het |
| Tmc8 |
A |
G |
11: 117,682,431 (GRCm39) |
|
probably null |
Het |
| Trim11 |
T |
A |
11: 58,879,750 (GRCm39) |
F284Y |
probably null |
Het |
| Ttn |
G |
T |
2: 76,552,141 (GRCm39) |
Y29419* |
probably null |
Het |
| Ttn |
A |
G |
2: 76,599,947 (GRCm39) |
Y19076H |
probably damaging |
Het |
| Ubr4 |
T |
C |
4: 139,149,044 (GRCm39) |
S448P |
possibly damaging |
Het |
| Ugt2b34 |
T |
C |
5: 87,039,332 (GRCm39) |
E443G |
probably damaging |
Het |
| Usp29 |
A |
G |
7: 6,964,390 (GRCm39) |
T78A |
probably damaging |
Het |
| Vmn1r227 |
A |
G |
17: 20,955,396 (GRCm39) |
|
noncoding transcript |
Het |
| Vmn1r85 |
A |
T |
7: 12,818,788 (GRCm39) |
W119R |
probably damaging |
Het |
| Vmn2r12 |
A |
T |
5: 109,234,379 (GRCm39) |
V611E |
probably damaging |
Het |
| Vmn2r97 |
A |
T |
17: 19,149,550 (GRCm39) |
M313L |
probably benign |
Het |
| Zap70 |
T |
C |
1: 36,818,254 (GRCm39) |
Y314H |
probably damaging |
Het |
| Zfp667 |
T |
A |
7: 6,308,684 (GRCm39) |
F451I |
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 |
|
|
R1213:Rbm12
|
UTSW |
2 |
155,939,412 (GRCm39) |
nonsense |
probably null |
|
|
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 |
|
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'- CCTGCACTAGGTATCACTGG -3'
(R):5'- ACTTCAGCTATGACCAGAGGG -3'
Sequencing Primer
(F):5'- CACTAGGTATCACTGGTACTGCAG -3'
(R):5'- CTTCAGCTATGACCAGAGGGAACTG -3'
|
| Posted On |
2015-12-29 |
Incidental Mutation