Incidental Mutation 'R1392:Rsad2'
| ID |
200892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsad2
|
| Ensembl Gene |
ENSMUSG00000020641 |
| Gene Name |
radical S-adenosyl methionine domain containing 2 |
| Synonyms |
cig5, 2510004L01Rik, Vig1, viperin |
| MMRRC Submission |
039454-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1392 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
26492745-26506451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 26495439 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 352
(V352A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020970
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020970]
[ENSMUST00000137792]
|
| AlphaFold |
Q8CBB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020970
AA Change: V352A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000020970
Gene: ENSMUSG00000020641
AA Change: V352A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
Elp3
|
74 |
282 |
8.55e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000137792
|
| SMART Domains |
Protein: ENSMUSP00000121791
Gene: ENSMUSG00000020641
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
Pfam:Fer4_12
|
69 |
174 |
1.3e-10 |
PFAM |
|
Pfam:Fer4_14
|
78 |
172 |
7.7e-11 |
PFAM |
|
Pfam:Radical_SAM
|
78 |
178 |
9.5e-12 |
PFAM |
|
| Coding Region Coverage |
- 1x: 97.6%
- 3x: 97.1%
- 10x: 95.8%
- 20x: 94.0%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit impaired T-helper 2 differentitation. [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 |
|---|
| A930005H10Rik |
T |
C |
3: 115,681,653 (GRCm39) |
|
probably benign |
Het |
| Cenpj |
T |
C |
14: 56,772,311 (GRCm39) |
|
probably benign |
Het |
| Csf1 |
A |
G |
3: 107,663,946 (GRCm39) |
V74A |
probably benign |
Het |
| Dsg4 |
T |
A |
18: 20,579,304 (GRCm39) |
|
probably benign |
Het |
| Hnrnpm |
A |
T |
17: 33,877,389 (GRCm39) |
S325T |
possibly damaging |
Het |
| Hunk |
T |
C |
16: 90,269,352 (GRCm39) |
S299P |
probably damaging |
Het |
| Kcnk4 |
C |
T |
19: 6,905,031 (GRCm39) |
V207I |
possibly damaging |
Het |
| Myo15a |
A |
G |
11: 60,368,800 (GRCm39) |
H520R |
possibly damaging |
Het |
| Nlrp2 |
A |
G |
7: 5,332,014 (GRCm39) |
|
probably benign |
Het |
| Or14c46 |
A |
T |
7: 85,918,063 (GRCm39) |
F311L |
probably benign |
Het |
| Or1n1 |
A |
T |
2: 36,750,187 (GRCm39) |
Y58N |
probably damaging |
Het |
| Pgap4 |
A |
G |
4: 49,586,919 (GRCm39) |
L83P |
probably damaging |
Het |
| Phc2 |
A |
G |
4: 128,638,880 (GRCm39) |
H607R |
possibly damaging |
Het |
| Rtn4rl2 |
A |
G |
2: 84,710,856 (GRCm39) |
L136P |
probably damaging |
Het |
| Smc1b |
T |
C |
15: 84,991,271 (GRCm39) |
|
probably benign |
Het |
| Spef2 |
C |
T |
15: 9,647,349 (GRCm39) |
V993I |
probably benign |
Het |
| Tiam2 |
A |
G |
17: 3,464,472 (GRCm39) |
H67R |
possibly damaging |
Het |
| Tmt1b |
T |
C |
10: 128,796,567 (GRCm39) |
T81A |
possibly damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,596,624 (GRCm39) |
S144T |
probably benign |
Het |
| Vmn2r77 |
A |
G |
7: 86,450,830 (GRCm39) |
T239A |
probably benign |
Het |
|
| Other mutations in Rsad2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Rsad2
|
APN |
12 |
26,498,666 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02237:Rsad2
|
APN |
12 |
26,506,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0077:Rsad2
|
UTSW |
12 |
26,506,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0472:Rsad2
|
UTSW |
12 |
26,504,167 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1368:Rsad2
|
UTSW |
12 |
26,497,147 (GRCm39) |
splice site |
probably null |
|
|
R1392:Rsad2
|
UTSW |
12 |
26,495,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1393:Rsad2
|
UTSW |
12 |
26,506,376 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1860:Rsad2
|
UTSW |
12 |
26,500,616 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2286:Rsad2
|
UTSW |
12 |
26,500,675 (GRCm39) |
missense |
probably benign |
0.20 |
|
R3430:Rsad2
|
UTSW |
12 |
26,506,418 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
|
R5304:Rsad2
|
UTSW |
12 |
26,500,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6000:Rsad2
|
UTSW |
12 |
26,497,150 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6052:Rsad2
|
UTSW |
12 |
26,500,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6084:Rsad2
|
UTSW |
12 |
26,504,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6193:Rsad2
|
UTSW |
12 |
26,506,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7019:Rsad2
|
UTSW |
12 |
26,506,418 (GRCm39) |
start codon destroyed |
possibly damaging |
0.89 |
|
R7158:Rsad2
|
UTSW |
12 |
26,500,779 (GRCm39) |
splice site |
probably null |
|
|
R7229:Rsad2
|
UTSW |
12 |
26,504,122 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8330:Rsad2
|
UTSW |
12 |
26,506,405 (GRCm39) |
missense |
probably benign |
|
|
R9557:Rsad2
|
UTSW |
12 |
26,495,521 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9788:Rsad2
|
UTSW |
12 |
26,500,577 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACCTTGCTCCTCTGAGAACCGAAC -3'
(R):5'- ACCATGCTTGGGATGTCGGAAATAC -3'
Sequencing Primer
(F):5'- GAGAACCGAACTCTCTCCTGTG -3'
(R):5'- GGATACCCTCCATTGAGTTTTACAG -3'
|
| Posted On |
2014-05-23 |
Incidental Mutation