Incidental Mutation 'R5057:Rbm12'
| ID |
390896 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rbm12
|
| Ensembl Gene |
ENSMUSG00000089824 |
| Gene Name |
RNA binding motif protein 12 |
| Synonyms |
SWAN, 9430070C08Rik, 5730420G12Rik |
| MMRRC Submission |
042647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.902)
|
| Stock # |
R5057 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
155933876-155953847 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 155938806 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 489
(C489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105233
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059647]
[ENSMUST00000079312]
[ENSMUST00000109604]
[ENSMUST00000109607]
[ENSMUST00000109608]
[ENSMUST00000128499]
[ENSMUST00000132494]
[ENSMUST00000131377]
[ENSMUST00000133921]
[ENSMUST00000153634]
[ENSMUST00000138068]
[ENSMUST00000147627]
[ENSMUST00000154889]
[ENSMUST00000136296]
[ENSMUST00000183518]
[ENSMUST00000142960]
[ENSMUST00000183972]
[ENSMUST00000184899]
[ENSMUST00000184265]
[ENSMUST00000184152]
|
| AlphaFold |
Q8R4X3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059647
AA Change: C489S
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000050461
Gene: ENSMUSG00000089824
AA Change: C489S
| 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 benign
Transcript: ENSMUST00000109604
AA Change: C489S
PolyPhen 2
Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105233
Gene: ENSMUSG00000089824
AA Change: C489S
| 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: C400S
|
| SMART Domains |
Protein: ENSMUSP00000114923
Gene: ENSMUSG00000098950
AA Change: C400S
| 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 benign
Transcript: ENSMUST00000132494
AA Change: C489S
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000139175
Gene: ENSMUSG00000098950
AA Change: C489S
| 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: 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: 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: 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: 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: 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: 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: 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: 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: 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: ENSMUST00000183972
AA Change: C15S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| 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: 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: ENSMUST00000184152
|
| SMART Domains |
Protein: ENSMUSP00000139035
Gene: ENSMUSG00000074643
| Domain | Start | End | E-Value | Type |
|---|
|
C2
|
6 |
112 |
3.64e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.1330 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.0%
|
| Validation Efficiency |
97% (118/122) |
| 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: 120 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933427D14Rik |
A |
T |
11: 72,057,581 (GRCm39) |
H739Q |
probably benign |
Het |
| Acad12 |
T |
A |
5: 121,748,152 (GRCm39) |
T89S |
probably benign |
Het |
| Adgb |
A |
G |
10: 10,233,722 (GRCm39) |
C1252R |
probably benign |
Het |
| Ankef1 |
A |
G |
2: 136,392,280 (GRCm39) |
|
probably null |
Het |
| Ankfy1 |
T |
C |
11: 72,650,745 (GRCm39) |
L976P |
probably damaging |
Het |
| Ankib1 |
T |
A |
5: 3,784,011 (GRCm39) |
I322F |
possibly damaging |
Het |
| Ankrd61 |
T |
A |
5: 143,831,613 (GRCm39) |
T64S |
probably benign |
Het |
| Anxa6 |
T |
G |
11: 54,892,062 (GRCm39) |
E298A |
possibly damaging |
Het |
| Apc2 |
A |
G |
10: 80,144,903 (GRCm39) |
S605G |
probably damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,515 (GRCm39) |
N39S |
unknown |
Het |
| Bicc1 |
A |
G |
10: 70,783,713 (GRCm39) |
S393P |
possibly damaging |
Het |
| Bptf |
A |
T |
11: 106,973,354 (GRCm39) |
F693L |
probably damaging |
Het |
| Cacng4 |
A |
G |
11: 107,685,197 (GRCm39) |
Y32H |
probably damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,257,092 (GRCm39) |
D252E |
probably benign |
Het |
| Ccdc92b |
C |
A |
11: 74,528,976 (GRCm39) |
T160K |
probably damaging |
Het |
| Cd163 |
C |
T |
6: 124,302,247 (GRCm39) |
T937I |
probably damaging |
Het |
| Cdh22 |
C |
A |
2: 164,958,063 (GRCm39) |
V635F |
probably damaging |
Het |
| Cenpe |
G |
T |
3: 134,926,074 (GRCm39) |
A243S |
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,233,979 (GRCm39) |
H2272Q |
probably benign |
Het |
| Cgnl1 |
A |
T |
9: 71,632,076 (GRCm39) |
V425D |
probably damaging |
Het |
| Clec4b2 |
A |
T |
6: 123,177,915 (GRCm39) |
S77C |
probably null |
Het |
| Cntnap5a |
C |
T |
1: 115,612,943 (GRCm39) |
T26I |
probably benign |
Het |
| Col6a3 |
T |
C |
1: 90,743,852 (GRCm39) |
K165R |
possibly damaging |
Het |
| Copb1 |
A |
T |
7: 113,825,997 (GRCm39) |
N662K |
probably benign |
Het |
| Crybg1 |
T |
A |
10: 43,865,104 (GRCm39) |
R1458* |
probably null |
Het |
| Cspp1 |
T |
A |
1: 10,145,186 (GRCm39) |
|
probably benign |
Het |
| Dhtkd1 |
A |
G |
2: 5,924,324 (GRCm39) |
C430R |
probably damaging |
Het |
| Dlg5 |
T |
C |
14: 24,186,690 (GRCm39) |
E1847G |
probably damaging |
Het |
| Dync2i1 |
A |
T |
12: 116,177,033 (GRCm39) |
N856K |
probably benign |
Het |
| Eif1ad16 |
A |
T |
12: 87,985,481 (GRCm39) |
S21T |
unknown |
Het |
| Ephb3 |
A |
G |
16: 21,039,197 (GRCm39) |
D351G |
probably damaging |
Het |
| Exd2 |
T |
A |
12: 80,543,564 (GRCm39) |
N582K |
probably damaging |
Het |
| Fam161a |
T |
A |
11: 22,970,397 (GRCm39) |
C192S |
probably damaging |
Het |
| Fbn1 |
A |
G |
2: 125,308,615 (GRCm39) |
V149A |
probably benign |
Het |
| Fbxw16 |
A |
G |
9: 109,270,232 (GRCm39) |
S170P |
probably damaging |
Het |
| Fndc1 |
T |
A |
17: 7,990,802 (GRCm39) |
R965* |
probably null |
Het |
| Frem2 |
T |
C |
3: 53,442,617 (GRCm39) |
D2640G |
probably benign |
Het |
| Gfm1 |
T |
C |
3: 67,380,877 (GRCm39) |
V664A |
probably damaging |
Het |
| Gm10803 |
A |
C |
2: 93,394,517 (GRCm39) |
L96F |
probably damaging |
Het |
| Gm14569 |
T |
C |
X: 35,694,470 (GRCm39) |
D1413G |
probably benign |
Het |
| Gm44501 |
A |
G |
17: 40,889,563 (GRCm39) |
T26A |
probably benign |
Het |
| Gpc4 |
G |
A |
X: 51,163,440 (GRCm39) |
R148C |
probably damaging |
Het |
| Gpsm1 |
G |
A |
2: 26,215,369 (GRCm39) |
R277Q |
probably damaging |
Het |
| Inmt |
T |
A |
6: 55,151,883 (GRCm39) |
H29L |
probably benign |
Het |
| Insrr |
T |
A |
3: 87,722,572 (GRCm39) |
C1265S |
probably benign |
Het |
| Kctd12 |
A |
G |
14: 103,219,045 (GRCm39) |
F278L |
possibly damaging |
Het |
| Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
| Lag3 |
T |
A |
6: 124,882,318 (GRCm39) |
I393F |
possibly damaging |
Het |
| Lama2 |
C |
T |
10: 27,040,982 (GRCm39) |
C1447Y |
probably damaging |
Het |
| Lama3 |
G |
A |
18: 12,665,005 (GRCm39) |
G2275S |
probably null |
Het |
| Lrrc17 |
A |
T |
5: 21,780,307 (GRCm39) |
H427L |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,856,558 (GRCm39) |
S164T |
probably damaging |
Het |
| Milr1 |
A |
G |
11: 106,657,791 (GRCm39) |
D131G |
possibly damaging |
Het |
| Myo5c |
A |
T |
9: 75,208,155 (GRCm39) |
T1630S |
probably damaging |
Het |
| Nbeal2 |
A |
T |
9: 110,460,073 (GRCm39) |
N1848K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,125,130 (GRCm39) |
V307E |
possibly damaging |
Het |
| Ndufs3 |
C |
A |
2: 90,729,004 (GRCm39) |
A161S |
probably benign |
Het |
| Neo1 |
T |
C |
9: 58,897,554 (GRCm39) |
D134G |
probably damaging |
Het |
| Nexmif |
A |
T |
X: 103,130,956 (GRCm39) |
N320K |
probably damaging |
Het |
| Nipal3 |
T |
A |
4: 135,194,167 (GRCm39) |
I289F |
probably damaging |
Het |
| Nrg4 |
A |
G |
9: 55,189,880 (GRCm39) |
|
probably benign |
Het |
| Nrxn3 |
A |
T |
12: 89,221,804 (GRCm39) |
I528F |
probably damaging |
Het |
| Or11h23 |
A |
C |
14: 50,948,669 (GRCm39) |
N294T |
probably damaging |
Het |
| Or3a10 |
T |
A |
11: 73,935,881 (GRCm39) |
D73V |
probably damaging |
Het |
| Pate2 |
T |
C |
9: 35,597,407 (GRCm39) |
|
probably benign |
Het |
| Pcnx2 |
T |
C |
8: 126,581,930 (GRCm39) |
I935M |
possibly damaging |
Het |
| Pik3c2a |
G |
T |
7: 115,975,518 (GRCm39) |
T683K |
possibly damaging |
Het |
| Pip5k1c |
G |
A |
10: 81,146,723 (GRCm39) |
|
probably null |
Het |
| Pkd1l2 |
G |
A |
8: 117,781,747 (GRCm39) |
T766I |
probably benign |
Het |
| Polr3c |
C |
A |
3: 96,619,373 (GRCm39) |
L508F |
probably damaging |
Het |
| Por |
A |
G |
5: 135,759,756 (GRCm39) |
D189G |
probably damaging |
Het |
| Potefam1 |
A |
T |
2: 111,055,766 (GRCm39) |
F207I |
probably benign |
Het |
| Prim2 |
A |
T |
1: 33,669,441 (GRCm39) |
L178* |
probably null |
Het |
| Prima1 |
C |
A |
12: 103,168,864 (GRCm39) |
|
probably null |
Het |
| Ptpn21 |
G |
A |
12: 98,645,666 (GRCm39) |
R1091C |
probably damaging |
Het |
| Ptpn23 |
G |
A |
9: 110,217,624 (GRCm39) |
T744I |
probably benign |
Het |
| Rad21 |
A |
T |
15: 51,830,102 (GRCm39) |
I503K |
probably benign |
Het |
| Rpl10a |
A |
T |
17: 28,549,607 (GRCm39) |
H140L |
probably benign |
Het |
| Rpl7-ps8 |
A |
T |
15: 59,083,004 (GRCm39) |
|
noncoding transcript |
Het |
| Rtbdn |
T |
C |
8: 85,681,638 (GRCm39) |
F143S |
probably damaging |
Het |
| Scamp3 |
T |
A |
3: 89,089,600 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
A |
G |
6: 113,114,922 (GRCm39) |
S848G |
probably damaging |
Het |
| Sez6 |
T |
C |
11: 77,863,979 (GRCm39) |
V487A |
probably damaging |
Het |
| Shc2 |
G |
A |
10: 79,459,706 (GRCm39) |
P413S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,070,618 (GRCm39) |
N966S |
probably damaging |
Het |
| Slc39a8 |
A |
G |
3: 135,554,790 (GRCm39) |
E78G |
probably benign |
Het |
| Slc8a3 |
A |
G |
12: 81,246,332 (GRCm39) |
V900A |
probably damaging |
Het |
| Slitrk3 |
T |
C |
3: 72,957,981 (GRCm39) |
T264A |
probably benign |
Het |
| Spire2 |
G |
A |
8: 124,084,940 (GRCm39) |
R260H |
probably damaging |
Het |
| Stk39 |
T |
A |
2: 68,051,292 (GRCm39) |
I518F |
probably damaging |
Het |
| Tardbp |
T |
A |
4: 148,703,813 (GRCm39) |
|
probably null |
Het |
| Tep1 |
A |
G |
14: 51,066,456 (GRCm39) |
Y2335H |
probably benign |
Het |
| Tesl1 |
G |
A |
X: 23,773,480 (GRCm39) |
G327E |
probably damaging |
Het |
| Tll2 |
A |
G |
19: 41,105,705 (GRCm39) |
V358A |
probably benign |
Het |
| Tmem268 |
C |
G |
4: 63,486,777 (GRCm39) |
S100C |
probably damaging |
Het |
| Tnfsf9 |
A |
G |
17: 57,412,444 (GRCm39) |
T5A |
probably benign |
Het |
| Trappc10 |
G |
T |
10: 78,052,994 (GRCm39) |
F260L |
possibly damaging |
Het |
| Trim5 |
A |
G |
7: 103,914,630 (GRCm39) |
Y480H |
probably damaging |
Het |
| Trmt112 |
T |
C |
19: 6,888,121 (GRCm39) |
V91A |
probably benign |
Het |
| Ttn |
T |
A |
2: 76,577,379 (GRCm39) |
K22759* |
probably null |
Het |
| Ttn |
C |
A |
2: 76,748,988 (GRCm39) |
L4020F |
probably benign |
Het |
| Ubash3b |
A |
G |
9: 40,948,755 (GRCm39) |
C187R |
possibly damaging |
Het |
| Ube3b |
T |
C |
5: 114,544,318 (GRCm39) |
F572L |
probably benign |
Het |
| Ubr5 |
A |
G |
15: 38,004,353 (GRCm39) |
V1332A |
probably damaging |
Het |
| Ubtd2 |
C |
A |
11: 32,466,320 (GRCm39) |
R180S |
probably damaging |
Het |
| Ubtf |
A |
G |
11: 102,197,913 (GRCm39) |
S673P |
probably damaging |
Het |
| Ubtfl1 |
A |
T |
9: 18,320,487 (GRCm39) |
D5V |
possibly damaging |
Het |
| Usp17la |
G |
A |
7: 104,510,330 (GRCm39) |
V312I |
possibly damaging |
Het |
| Usp17ld |
G |
T |
7: 102,899,655 (GRCm39) |
H426N |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,408,086 (GRCm39) |
|
probably benign |
Het |
| Vmn1r199 |
A |
T |
13: 22,567,575 (GRCm39) |
T290S |
possibly damaging |
Het |
| Vmn1r33 |
T |
C |
6: 66,589,089 (GRCm39) |
N155S |
probably benign |
Het |
| Vmn2r28 |
T |
A |
7: 5,489,463 (GRCm39) |
I459L |
probably benign |
Het |
| Vmn2r6 |
T |
A |
3: 64,445,207 (GRCm39) |
K839N |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,819 (GRCm39) |
I699T |
probably damaging |
Het |
| Vps16 |
A |
G |
2: 130,281,372 (GRCm39) |
S235G |
probably benign |
Het |
| Vwde |
T |
C |
6: 13,192,641 (GRCm39) |
I421V |
possibly damaging |
Het |
| Xiap |
T |
C |
X: 41,183,342 (GRCm39) |
F23L |
probably benign |
Het |
| Xkr7 |
A |
G |
2: 152,896,300 (GRCm39) |
T385A |
probably benign |
Het |
| Znfx1 |
T |
C |
2: 166,881,746 (GRCm39) |
Y217C |
probably 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 |
|
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 |
|
|
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'- GACTTTGGCAGAACTGACTTC -3'
(R):5'- AAGGTCAAAATCGCCCAGTGG -3'
Sequencing Primer
(F):5'- AGAACTGACTTCCCCCTCTGG -3'
(R):5'- CACCACATGAGGCTGGCTTTTG -3'
|
| Posted On |
2016-06-06 |
Incidental Mutation