Incidental Mutation 'R9714:Rsad1'
| ID |
730357 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsad1
|
| Ensembl Gene |
ENSMUSG00000039096 |
| Gene Name |
radical S-adenosyl methionine domain containing 1 |
| Synonyms |
|
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
R9714 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
94430624-94440081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 94435298 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 263
(V263A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040487]
|
| AlphaFold |
Q5SUV1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040487
AA Change: V263A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000037361
Gene: ENSMUSG00000039096
AA Change: V263A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
24 |
N/A |
INTRINSIC |
|
Elp3
|
39 |
259 |
6.54e-40 |
SMART |
|
Pfam:HemN_C
|
346 |
414 |
7.7e-13 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
C |
7: 120,030,383 (GRCm39) |
D165A |
probably benign |
Het |
| Abca3 |
T |
A |
17: 24,595,702 (GRCm39) |
C352S |
probably benign |
Het |
| AC157566.4 |
T |
C |
15: 76,418,354 (GRCm39) |
T52A |
probably benign |
Het |
| Cd19 |
T |
C |
7: 126,010,230 (GRCm39) |
I381V |
probably benign |
Het |
| Col17a1 |
C |
T |
19: 47,636,634 (GRCm39) |
V1374I |
unknown |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Dok1 |
A |
G |
6: 83,008,275 (GRCm39) |
V469A |
probably benign |
Het |
| Glg1 |
A |
G |
8: 111,924,301 (GRCm39) |
L229S |
probably damaging |
Het |
| Hsd3b6 |
A |
G |
3: 98,713,645 (GRCm39) |
F218S |
probably benign |
Het |
| Kif1c |
T |
C |
11: 70,615,660 (GRCm39) |
V588A |
probably benign |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Med13l |
T |
A |
5: 118,866,438 (GRCm39) |
D497E |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,935,410 (GRCm39) |
F869L |
possibly damaging |
Het |
| Myo19 |
A |
G |
11: 84,773,542 (GRCm39) |
M1V |
probably null |
Het |
| Notum |
T |
C |
11: 120,551,019 (GRCm39) |
E49G |
probably benign |
Het |
| Nup153 |
G |
A |
13: 46,866,435 (GRCm39) |
T203I |
possibly damaging |
Het |
| Parvb |
G |
T |
15: 84,167,041 (GRCm39) |
G119C |
probably damaging |
Het |
| Pcdh10 |
G |
A |
3: 45,336,010 (GRCm39) |
A775T |
probably damaging |
Het |
| Pla2g4f |
C |
T |
2: 120,142,900 (GRCm39) |
R70Q |
probably benign |
Het |
| Plxna1 |
A |
T |
6: 89,296,440 (GRCm39) |
L1868Q |
probably damaging |
Het |
| Pmm2 |
T |
C |
16: 8,473,506 (GRCm39) |
L240P |
probably damaging |
Het |
| Ptprc |
T |
A |
1: 138,008,687 (GRCm39) |
T667S |
probably damaging |
Het |
| Sardh |
C |
T |
2: 27,079,641 (GRCm39) |
V884M |
possibly damaging |
Het |
| Slc35a5 |
T |
C |
16: 44,964,426 (GRCm39) |
E269G |
probably damaging |
Het |
| Slc35f3 |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
8: 127,115,781 (GRCm39) |
|
probably benign |
Het |
| Styk1 |
CTCTTCATGATTTTCTT |
CTCTT |
6: 131,278,612 (GRCm39) |
|
probably benign |
Het |
| Taf11 |
T |
C |
17: 28,122,136 (GRCm39) |
E116G |
probably damaging |
Het |
| Tbc1d10a |
G |
T |
11: 4,163,683 (GRCm39) |
A312S |
probably damaging |
Het |
| Tiam1 |
T |
A |
16: 89,694,647 (GRCm39) |
H270L |
probably benign |
Het |
| Vmn2r31 |
T |
A |
7: 7,387,367 (GRCm39) |
I735F |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
Het |
|
| Other mutations in Rsad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01104:Rsad1
|
APN |
11 |
94,434,466 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL01915:Rsad1
|
APN |
11 |
94,439,803 (GRCm39) |
splice site |
probably null |
|
|
R0271:Rsad1
|
UTSW |
11 |
94,439,290 (GRCm39) |
splice site |
probably benign |
|
|
R0619:Rsad1
|
UTSW |
11 |
94,433,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Rsad1
|
UTSW |
11 |
94,434,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1147:Rsad1
|
UTSW |
11 |
94,434,966 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2069:Rsad1
|
UTSW |
11 |
94,439,951 (GRCm39) |
start gained |
probably benign |
|
|
R3831:Rsad1
|
UTSW |
11 |
94,434,130 (GRCm39) |
missense |
probably benign |
0.45 |
|
R3833:Rsad1
|
UTSW |
11 |
94,434,130 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4152:Rsad1
|
UTSW |
11 |
94,439,449 (GRCm39) |
intron |
probably benign |
|
|
R4467:Rsad1
|
UTSW |
11 |
94,435,356 (GRCm39) |
missense |
probably benign |
|
|
R4672:Rsad1
|
UTSW |
11 |
94,434,444 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5452:Rsad1
|
UTSW |
11 |
94,434,515 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6190:Rsad1
|
UTSW |
11 |
94,439,062 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6608:Rsad1
|
UTSW |
11 |
94,433,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6749:Rsad1
|
UTSW |
11 |
94,434,166 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7821:Rsad1
|
UTSW |
11 |
94,435,288 (GRCm39) |
missense |
probably benign |
|
|
R8818:Rsad1
|
UTSW |
11 |
94,439,100 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8984:Rsad1
|
UTSW |
11 |
94,439,010 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0024:Rsad1
|
UTSW |
11 |
94,439,807 (GRCm39) |
critical splice donor site |
probably null |
|
|
Z1177:Rsad1
|
UTSW |
11 |
94,433,811 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAAAGGTCTCAGTCCCTTGG -3'
(R):5'- TTTTCCCTGGCAGAGTGTCG -3'
Sequencing Primer
(F):5'- AGTCCCTTGGTCAGTCTCAAC -3'
(R):5'- CTGGGGTTACCGGCACAGAAG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation