Incidental Mutation 'R2286:Rsad2'
| ID |
243311 |
| 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 |
040285-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2286 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
12 |
| Chromosomal Location |
26492745-26506451 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 26500675 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Isoleucine
at position 204
(N204I)
|
| 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: N204I
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000020970
Gene: ENSMUSG00000020641
AA Change: N204I
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142732
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam22 |
C |
T |
5: 8,195,616 (GRCm39) |
R308H |
probably damaging |
Het |
| Alox5ap |
G |
A |
5: 149,222,240 (GRCm39) |
|
probably null |
Het |
| Ap2s1 |
T |
C |
7: 16,482,901 (GRCm39) |
V131A |
possibly damaging |
Het |
| Cdr2l |
GAA |
GA |
11: 115,283,626 (GRCm39) |
|
probably null |
Het |
| Cpsf7 |
T |
C |
19: 10,512,660 (GRCm39) |
L248P |
probably damaging |
Het |
| Dtd1 |
T |
C |
2: 144,477,786 (GRCm39) |
|
probably null |
Het |
| Eci1 |
A |
G |
17: 24,652,203 (GRCm39) |
D75G |
probably damaging |
Het |
| Kremen1 |
CGGG |
CGGGGGG |
11: 5,151,791 (GRCm39) |
|
probably benign |
Het |
| Luc7l |
A |
G |
17: 26,499,020 (GRCm39) |
|
probably benign |
Het |
| Med13 |
A |
C |
11: 86,210,515 (GRCm39) |
D542E |
probably benign |
Het |
| Myo6 |
T |
C |
9: 80,173,494 (GRCm39) |
S545P |
possibly damaging |
Het |
| Naip6 |
C |
T |
13: 100,437,108 (GRCm39) |
A472T |
probably benign |
Het |
| Or4k37 |
A |
G |
2: 111,159,252 (GRCm39) |
I163V |
probably benign |
Het |
| Setd5 |
T |
G |
6: 113,096,571 (GRCm39) |
N592K |
possibly damaging |
Het |
| Sgip1 |
G |
T |
4: 102,724,844 (GRCm39) |
S59I |
possibly damaging |
Het |
| Slc39a5 |
A |
G |
10: 128,231,929 (GRCm39) |
V532A |
probably benign |
Het |
| Smarcc2 |
G |
A |
10: 128,299,612 (GRCm39) |
M123I |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,827,551 (GRCm39) |
T185A |
probably benign |
Het |
| Tnn |
T |
C |
1: 159,938,079 (GRCm39) |
E1146G |
possibly damaging |
Het |
| Unc13a |
T |
C |
8: 72,083,203 (GRCm39) |
K1618E |
probably damaging |
Het |
| Vmn2r120 |
A |
G |
17: 57,815,958 (GRCm39) |
L799P |
probably damaging |
Het |
| Vps26c |
C |
T |
16: 94,313,112 (GRCm39) |
E60K |
possibly damaging |
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 |
|
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 |
|
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'- CCCAGAATCCTCAGTGTTCC -3'
(R):5'- GAGGCATACATGACATCCAGG -3'
Sequencing Primer
(F):5'- ACTGAGCCAAGTTTCCTGAG -3'
(R):5'- TACATGACATCCAGGACTCAGGG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation