Incidental Mutation 'R1393:Rsad2'
| ID |
162708 |
| 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 |
039455-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1393 (G1)
|
| Quality Score |
205 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
26492745-26506451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 26506376 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 15
(S15G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121791
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020970]
[ENSMUST00000137792]
|
| AlphaFold |
Q8CBB9 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000020970
AA Change: S15G
PolyPhen 2
Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000020970
Gene: ENSMUSG00000020641
AA Change: S15G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
13 |
28 |
N/A |
INTRINSIC |
|
Elp3
|
74 |
282 |
8.55e-12 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000137792
AA Change: S15G
PolyPhen 2
Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000121791
Gene: ENSMUSG00000020641
AA Change: S15G
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142732
|
| Meta Mutation Damage Score |
0.1416 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 88.7%
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf3 |
A |
G |
16: 20,379,180 (GRCm39) |
N682S |
probably benign |
Het |
| Acta2 |
G |
A |
19: 34,219,192 (GRCm39) |
R337C |
probably damaging |
Het |
| Anxa5 |
G |
A |
3: 36,507,658 (GRCm39) |
T194I |
probably damaging |
Het |
| Atf1 |
A |
G |
15: 100,130,647 (GRCm39) |
T6A |
possibly damaging |
Het |
| Atg4d |
T |
A |
9: 21,182,129 (GRCm39) |
Y317N |
probably damaging |
Het |
| Bcl6 |
A |
G |
16: 23,796,316 (GRCm39) |
V37A |
probably damaging |
Het |
| Bsn |
T |
C |
9: 107,987,716 (GRCm39) |
|
probably benign |
Het |
| Cd300ld2 |
G |
A |
11: 114,903,404 (GRCm39) |
|
probably benign |
Het |
| Cdh15 |
G |
C |
8: 123,584,234 (GRCm39) |
E112Q |
probably damaging |
Het |
| Chad |
A |
T |
11: 94,456,140 (GRCm39) |
M73L |
probably benign |
Het |
| Copz1 |
A |
G |
15: 103,203,171 (GRCm39) |
N95S |
probably benign |
Het |
| Cwf19l2 |
T |
C |
9: 3,456,818 (GRCm39) |
V717A |
probably benign |
Het |
| Dock3 |
C |
T |
9: 106,788,548 (GRCm39) |
G140R |
probably damaging |
Het |
| Gm14226 |
A |
T |
2: 154,866,111 (GRCm39) |
S23C |
probably damaging |
Het |
| Gria2 |
T |
C |
3: 80,614,405 (GRCm39) |
E545G |
probably damaging |
Het |
| Nxpe2 |
T |
C |
9: 48,237,914 (GRCm39) |
T114A |
probably damaging |
Het |
| Or6c215 |
A |
G |
10: 129,637,801 (GRCm39) |
F198L |
probably benign |
Het |
| Patj |
G |
A |
4: 98,312,648 (GRCm39) |
V329I |
probably benign |
Het |
| Ptcd3 |
T |
A |
6: 71,866,605 (GRCm39) |
T404S |
probably benign |
Het |
| Rasa1 |
A |
G |
13: 85,371,641 (GRCm39) |
C867R |
probably damaging |
Het |
| Rps24 |
A |
G |
14: 24,541,830 (GRCm39) |
T6A |
probably damaging |
Het |
| Serpina12 |
T |
C |
12: 104,004,009 (GRCm39) |
I208V |
possibly damaging |
Het |
| Spock1 |
A |
T |
13: 58,055,268 (GRCm39) |
L45Q |
probably damaging |
Het |
| Stat3 |
A |
T |
11: 100,779,591 (GRCm39) |
|
probably null |
Het |
| Zfp810 |
T |
C |
9: 22,191,810 (GRCm39) |
D90G |
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 |
|
R1392:Rsad2
|
UTSW |
12 |
26,495,439 (GRCm39) |
missense |
probably benign |
0.00 |
|
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'- GTGAAGTGGTAGTTGACACTCACGG -3'
(R):5'- AAGGTTCAGTCTTGGCTCTGGTCC -3'
Sequencing Primer
(F):5'- TGACACTCACGGGGGTTG -3'
(R):5'- GGTCCAACTTTCATTTTCAGAAAAC -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation