Incidental Mutation 'IGL01104:Rsad1'
| ID |
52301 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsad1
|
| Ensembl Gene |
ENSMUSG00000039096 |
| Gene Name |
radical S-adenosyl methionine domain containing 1 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.114)
|
| Stock # |
IGL01104
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
94430624-94440081 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 94434466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 323
(T323A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037361
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040487]
|
| AlphaFold |
Q5SUV1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040487
AA Change: T323A
PolyPhen 2
Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000037361
Gene: ENSMUSG00000039096
AA Change: T323A
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132274
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143299
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148888
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap1 |
T |
A |
1: 89,653,797 (GRCm39) |
|
probably benign |
Het |
| AU015836 |
A |
T |
X: 93,015,493 (GRCm39) |
D15V |
probably damaging |
Het |
| Capns2 |
G |
T |
8: 93,628,383 (GRCm39) |
D91Y |
probably damaging |
Het |
| Chd6 |
C |
T |
2: 160,803,847 (GRCm39) |
R2071Q |
probably damaging |
Het |
| Col4a4 |
G |
T |
1: 82,444,266 (GRCm39) |
P1334T |
unknown |
Het |
| Dusp12 |
T |
G |
1: 170,702,042 (GRCm39) |
H319P |
probably damaging |
Het |
| Emilin3 |
A |
T |
2: 160,751,703 (GRCm39) |
V112E |
probably damaging |
Het |
| Eya3 |
T |
A |
4: 132,439,240 (GRCm39) |
F455L |
probably damaging |
Het |
| F10 |
G |
A |
8: 13,105,686 (GRCm39) |
G417D |
probably damaging |
Het |
| Fat3 |
A |
C |
9: 16,287,024 (GRCm39) |
V833G |
possibly damaging |
Het |
| Fat3 |
A |
T |
9: 15,909,756 (GRCm39) |
L2082H |
probably damaging |
Het |
| Golga5 |
T |
A |
12: 102,460,073 (GRCm39) |
M667K |
probably damaging |
Het |
| Gpr50 |
T |
A |
X: 70,710,833 (GRCm39) |
L305H |
probably damaging |
Het |
| Grhl1 |
A |
G |
12: 24,634,453 (GRCm39) |
K217R |
probably damaging |
Het |
| Itgb2 |
A |
G |
10: 77,383,028 (GRCm39) |
|
probably null |
Het |
| Jag1 |
T |
A |
2: 136,926,298 (GRCm39) |
I1035L |
probably benign |
Het |
| Kdm2a |
A |
G |
19: 4,406,766 (GRCm39) |
|
probably benign |
Het |
| Lima1 |
A |
C |
15: 99,741,581 (GRCm39) |
S32A |
probably damaging |
Het |
| Lmod1 |
C |
T |
1: 135,292,522 (GRCm39) |
T459I |
probably damaging |
Het |
| Mtch1 |
T |
C |
17: 29,555,196 (GRCm39) |
D284G |
probably damaging |
Het |
| Mtus2 |
C |
T |
5: 148,013,819 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
A |
G |
8: 85,957,813 (GRCm39) |
T230A |
probably benign |
Het |
| Ppl |
T |
C |
16: 4,912,355 (GRCm39) |
Q742R |
probably benign |
Het |
| Reln |
T |
C |
5: 22,191,965 (GRCm39) |
R1492G |
probably damaging |
Het |
| Slc22a8 |
A |
G |
19: 8,585,329 (GRCm39) |
T293A |
possibly damaging |
Het |
| Smc4 |
T |
C |
3: 68,934,917 (GRCm39) |
I677T |
possibly damaging |
Het |
| Ufd1 |
T |
C |
16: 18,633,587 (GRCm39) |
F4S |
probably damaging |
Het |
| Usp9x |
T |
C |
X: 13,027,142 (GRCm39) |
V16A |
probably damaging |
Het |
| Vmn2r31 |
A |
T |
7: 7,399,565 (GRCm39) |
C131S |
probably damaging |
Het |
| Vmn2r65 |
A |
G |
7: 84,589,996 (GRCm39) |
I640T |
possibly damaging |
Het |
| Vwf |
T |
C |
6: 125,660,519 (GRCm39) |
C2676R |
probably damaging |
Het |
|
| Other mutations in Rsad1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
R9714:Rsad1
|
UTSW |
11 |
94,435,298 (GRCm39) |
missense |
probably benign |
0.00 |
|
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 |
|
|
| Posted On |
2013-06-21 |
Incidental Mutation